Irons, Mira
first name: Mira
last name: Irons
coauthor of: Ullrich, Nicole
coauthor of: Roberts, Amy
coauthor of: Tan, Wen-Hann
coauthor of: Rockowitz, Shira
coauthor of: Chung, Wendy
full name: Mira Bjelotomich Irons, M.D.
has faculty rank: Full Professor
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person in primary position: Professor of the Practice in the Department of Pediatrics
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similar to: Alkuraya, Fowzan
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selected publications: Authorship 1814856
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Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts.
PubMed Identifier: 11290821
author list: Williard DE, Nwankwo JO, Kaduce TL, Harmon SD, Irons M, Moser HW, Raymond GV, Spector AA
published in: Journal of lipid research
information resource reference: Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. J Lipid Res. 2001 Apr; 42(4):501-8.
journal title abbreviation: J Lipid Res
publication date: 2001-04-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 106386
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Cerebral infarction in Menkes' disease.

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
PubMed Identifier: 7684480
author list: Irons M, Elias ER, Salen G, Tint GS, Batta AK
published in: Lancet (London, England)
information resource reference: Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993 May 29; 341(8857):1414.
journal title abbreviation: Lancet
publication date: 1993-05-29T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
PubMed Identifier: 17506099
author list: Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH
published in: American journal of medical genetics. Part A
information resource reference: A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. Am J Med Genet A. 2007 Jun 15; 143A(12):1282-6.
journal title abbreviation: Am J Med Genet A
publication date: 2007-06-15T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis.
PubMed Identifier: 14631205
author list: Irons M
published in: Current opinion in pediatrics
information resource reference: Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis. Curr Opin Pediatr. 2003 Dec; 15(6):594-7.
journal title abbreviation: Curr Opin Pediatr
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

The biology and management of laryngeal neurofibroma.
PubMed Identifier: 15611399
author list: Rahbar R, Litrovnik BG, Vargas SO, Robson CD, Nuss RC, Irons MB, McGill TJ, Healy GB
published in: Archives of otolaryngology--head & neck surgery
information resource reference: The biology and management of laryngeal neurofibroma. Arch Otolaryngol Head Neck Surg. 2004 Dec; 130(12):1400-6.
journal title abbreviation: Arch Otolaryngol Head Neck Surg
publication date: 2004-12-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
PubMed Identifier: 20186804
author list: Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T
published in: American journal of medical genetics. Part A
information resource reference: 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81.
journal title abbreviation: Am J Med Genet A
publication date: 2010-03-01T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
PubMed Identifier: 19232556
author list: Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
published in: American journal of human genetics
information resource reference: Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15.
journal title abbreviation: Am J Hum Genet
publication date: 2009-02-19T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1.
PubMed Identifier: 20139412
author list: Ullrich NJ, Ayr L, Leaffer E, Irons MB, Rey-Casserly C
published in: Journal of child neurology
information resource reference: Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1. J Child Neurol. 2010 Oct; 25(10):1195-202.
journal title abbreviation: J Child Neurol
publication date: 2010-02-05T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
PubMed Identifier: 14556255
author list: Mueller C, Patel S, Irons M, Antshel K, Salen G, Tint GS, Bay C
published in: American journal of medical genetics. Part A
information resource reference: Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. Am J Med Genet A. 2003 Nov 15; 123A(1):100-6.
journal title abbreviation: Am J Med Genet A
publication date: 2003-11-15T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
PubMed Identifier: 16832833
author list: Craig WY, Haddow JE, Palomaki GE, Kelley RI, Kratz LE, Shackleton CH, Marcos J, Stephen Tint G, MacRae AR, Nowaczyk MJ, Kloza EM, Irons MB, Roberson M
published in: Prenatal diagnosis
information resource reference: Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn. 2006 Sep; 26(9):842-9.
journal title abbreviation: Prenat Diagn
publication date: 2006-09-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Cerebral infarction in Menkes' disease.
PubMed Identifier: 11118799
author list: Hsich GE, Robertson RL, Irons M, Soul JS, du Plessis AJ
published in: Pediatric neurology
information resource reference: Cerebral infarction in Menkes' disease. Pediatr Neurol. 2000 Nov; 23(5):425-8.
journal title abbreviation: Pediatr Neurol
publication date: 2000-11-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
PubMed Identifier: 23059950
author list: Nowaczyk MJ, Irons MB
published in: American journal of medical genetics. Part C, Seminars in medical genetics
information resource reference: Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 2012 Nov 15; 160C(4):250-62.
journal title abbreviation: Am J Med Genet C Semin Med Genet
publication date: 2012-10-11T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
PubMed Identifier: 7608816
author list: Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R
published in: The Journal of pediatrics
information resource reference: Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995 Jul; 127(1):82-7.
journal title abbreviation: J Pediatr
publication date: 1995-07-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion.
PubMed Identifier: 3044117
author list: Lockwood C, Irons M, Troiani J, Kawada C, Chaudhury A, Cetrulo C
published in: American journal of obstetrics and gynecology
information resource reference: The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. Am J Obstet Gynecol. 1988 Aug; 159(2):474-6.
journal title abbreviation: Am J Obstet Gynecol
publication date: 1988-08-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
PubMed Identifier: 21626671
author list: Zarowski M, Vendrame M, Irons M, Kothare SV
published in: American journal of medical genetics. Part A
information resource reference: Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2011 Jul; 155A(7):1558-62.
journal title abbreviation: Am J Med Genet A
publication date: 2011-05-27T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.
PubMed Identifier: 7706951
author list: Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salen G
published in: Journal of lipid research
information resource reference: Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J Lipid Res. 1995 Jan; 36(1):89-95.
journal title abbreviation: J Lipid Res
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance.
PubMed Identifier: 3839528
author list: Irons M, Levy HL, Pueschel S, Castree K
published in: The Journal of pediatrics
information resource reference: Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. J Pediatr. 1985 Aug; 107(2):261-3.
journal title abbreviation: J Pediatr
publication date: 1985-08-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1.
PubMed Identifier: 20310005
author list: Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, Goumnerova LC, Irons MB, Ullrich NJ
published in: Pediatric blood & cancer
information resource reference: Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer. 2010 Jul 01; 54(7):890-6.
journal title abbreviation: Pediatr Blood Cancer
publication date: 2010-07-01T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1.
PubMed Identifier: 23414129
author list: Arrington DK, Danehy AR, Peleggi A, Proctor MR, Irons MB, Ullrich NJ
published in: Journal of neurosurgery. Pediatrics
information resource reference: Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2013 Apr; 11(4):410-6.
journal title abbreviation: J Neurosurg Pediatr
publication date: 2013-02-15T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
PubMed Identifier: 8209913
author list: Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M
published in: American journal of medical genetics
information resource reference: Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994 May 01; 50(4):347-52.
journal title abbreviation: Am J Med Genet
publication date: 1994-05-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
PubMed Identifier: 15264279
author list: Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID
published in: American journal of medical genetics. Part A
information resource reference: Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A. 2004 Aug 01; 128A(4):340-51.
journal title abbreviation: Am J Med Genet A
publication date: 2004-08-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
PubMed Identifier: 19920235
author list: Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E
published in: JAMA
information resource reference: Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009 Nov 18; 302(19):2111-8.
journal title abbreviation: JAMA
publication date: 2009-11-18T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosomal microarray testing influences medical management.
PubMed Identifier: 21716121
author list: Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6.
journal title abbreviation: Genet Med
publication date: 2011-09-01T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Competencies for the physician medical geneticist in the 21st century.
PubMed Identifier: 22075526
author list: Korf BR, Irons M, Watson MS
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Competencies for the physician medical geneticist in the 21st century. Genet Med. 2011 Nov; 13(11):911-2.
journal title abbreviation: Genet Med
publication date: 2011-11-01T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Utility of hemodialysis in maple syrup urine disease.
PubMed Identifier: 11956873
author list: Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ
published in: Pediatric nephrology (Berlin, Germany)
information resource reference: Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol. 2002 Apr; 17(4):239-42.
journal title abbreviation: Pediatr Nephrol
publication date: 2002-04-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.
PubMed Identifier: 14662594
author list: Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec; 121(12):1738-43.
journal title abbreviation: Arch Ophthalmol
publication date: 2003-12-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.
PubMed Identifier: 15372522
author list: Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M
published in: American journal of medical genetics. Part A
information resource reference: Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 01; 130A(2):204-7.
journal title abbreviation: Am J Med Genet A
publication date: 2004-10-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Screening for metabolic disorders. How are we doing?
PubMed Identifier: 8414711
author list: Irons M
published in: Pediatric clinics of North America
information resource reference: Screening for metabolic disorders. How are we doing? Pediatr Clin North Am. 1993 Oct; 40(5):1073-85.
journal title abbreviation: Pediatr Clin North Am
publication date: 1993-10-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Skeletal anomalies and deformities in patients with deletions of 22q11.
PubMed Identifier: 9382145
author list: Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH
published in: American journal of medical genetics
information resource reference: Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet. 1997 Oct 17; 72(2):210-5.
journal title abbreviation: Am J Med Genet
publication date: 1997-10-17T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Brainstem lesions in neurofibromatosis type 1.
PubMed Identifier: 17986937
author list: Ullrich NJ, Raja AI, Irons MB, Kieran MW, Goumnerova L
published in: Neurosurgery
information resource reference: Brainstem lesions in neurofibromatosis type 1. Neurosurgery. 2007 Oct; 61(4):762-6; discussion 766-7.
journal title abbreviation: Neurosurgery
publication date: 2007-10-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

[18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation.
PubMed Identifier: 22407214
author list: Tsai LL, Drubach L, Fahey F, Irons M, Voss S, Ullrich NJ
published in: Journal of neuro-oncology
information resource reference: [18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation. J Neurooncol. 2012 Jul; 108(3):469-75.
journal title abbreviation: J Neurooncol
publication date: 2012-03-11T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Metabolic syndromes with dermatologic manifestations.
PubMed Identifier: 3516355
author list: Irons M, Levy HL
published in: Clinical reviews in allergy
information resource reference: Metabolic syndromes with dermatologic manifestations. Clin Rev Allergy. 1986 Feb; 4(1):101-24.
journal title abbreviation: Clin Rev Allergy
publication date: 1986-02-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Certification
MeSH DescriptorUI: D002568
MeSH semantic group name: Activities & Behaviors
MeSH semantic group name: Concepts & Ideas
number of authors: 290
number of publications: 413
uniqueness weight: 0.765304
type: Concept

Developmental Disabilities
MeSH DescriptorUI: D002658
MeSH semantic group name: Disorders
number of authors: 649
number of publications: 1625
uniqueness weight: 0.514744
type: Concept

Abnormalities, Multiple
MeSH DescriptorUI: D000015
MeSH semantic group name: Disorders
number of authors: 548
number of publications: 1391
uniqueness weight: 0.583615
type: Concept

Smith-Lemli-Opitz Syndrome
MeSH DescriptorUI: D019082
MeSH semantic group name: Disorders
number of authors: 22
number of publications: 48
uniqueness weight: 0.963813
type: Concept

Cholesterol
MeSH DescriptorUI: D002784
MeSH semantic group name: Chemicals & Drugs
number of authors: 1173
number of publications: 2927
uniqueness weight: 0.512488
type: Concept

Neurology
type: Department
type: Organization

Obstetrics Gynecology & Repro. Bio.
type: Department
type: Organization

Pediatrics
type: Department
type: Organization

Cardiology
type: Division
type: Organization

Genetics
type: Division
type: Organization

Brigham and Women's Hospital
type: Organization

Boston Children's Hospital
type: Organization

Massachusetts General Hospital
type: Organization

Cox, Gerald
eCommons Login: GFC2
first name: Gerald
last name: Cox
full name: Gerald Frank Cox, M.D.,Ph.D.
has faculty rank: Instructor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 52522
person in primary position: Instructor in Pediatrics, Part-time
type: Agent
type: Person
preferred title: Instructor in Pediatrics, Part-time

Holm, Ingrid
eCommons Login: IAH1
first name: Ingrid
last name: Holm
full name: Ingrid Adele Holm, M.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 87841
person in primary position: Professor of Pediatrics
type: Agent
type: Person
preferred title: Professor of Pediatrics

Ullrich, Nicole
eCommons Login: NU1
first name: Nicole
last name: Ullrich
full name: Nicole J Ullrich, M.D., Ph.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 15549
person in primary position: Professor of Neurology
type: Agent
type: Person
preferred title: Professor of Neurology

Walsh, Christopher
eCommons Login: CW11
first name: Christopher
last name: Walsh
full name: Christopher A. Walsh, M.D., Ph.D.
has faculty rank: Full Professor
latitude: 42.33849900000000
longitude: -71.10446000000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
Person ID: 9592
person in primary position: Bullard Professor of Pediatrics and Neurology
type: Agent
type: Person
preferred title: Bullard Professor of Pediatrics and Neurology

Lin, Angela
eCommons Login: AEL7
first name: Angela
last name: Lin
full name: Angela Elizabeth Lin, M.D.
has faculty rank: Full Professor
latitude: 42.36125700000000
longitude: -71.06552700000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
Person ID: 82932
person in primary position: Professor of Pediatrics, Part-time
type: Agent
type: Person
preferred title: Professor of Pediatrics, Part-time

Morton, Cynthia
eCommons Login: CCM2
first name: Cynthia
last name: Morton
full name: Cynthia Casson Morton, Ph.D.
has faculty rank: Full Professor
latitude: 42.33837200000000
longitude: -71.10326900000000
Person ID: 49558
person in primary position: William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology
type: Agent
type: Person
preferred title: William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology

selected publications
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similar to
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predicate: similar to
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Lyon, Helen
first name: Helen
last name: Lyon
full name: Helen N Lyon, M.D.
has faculty rank: Other Faculty
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 5836
person in primary position: Member of the Faculty of Pediatrics
type: Agent
type: Person
preferred title: Member of the Faculty of Pediatrics

Alkuraya, Fowzan
eCommons Login: FSA2
first name: Fowzan
last name: Alkuraya
full name: Fowzan Sami Alkuraya, M.B.,B.S.
has faculty rank: Instructor
latitude: 42.33837200000000
longitude: -71.10326900000000
Person ID: 41121
person in primary position: Instructor in Pediatrics
type: Agent
type: Person
preferred title: Instructor in Pediatrics

Harris, David
eCommons Login: DJH5
first name: David
last name: Harris
full name: David J. Harris, M.D.
has faculty rank: Lecturer
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 47104
person in primary position: Lecturer on Pediatrics
type: Agent
type: Person
preferred title: Lecturer on Pediatrics

Roberts, Amy
eCommons Login: AER8
first name: Amy
last name: Roberts
full name: Amy Elizabeth Roberts, M.D.
has faculty rank: Associate Professor
latitude: 42.33837200000000
longitude: -71.10326900000000
Person ID: 52201
person in primary position: Associate Professor of Pediatrics
type: Agent
type: Person
preferred title: Associate Professor of Pediatrics

Tan, Wen-Hann
eCommons Login: WT8
first name: Wen-Hann
last name: Tan
full name: Wen-Hann Tan, M.D.
has faculty rank: Associate Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 68891
person in primary position: Associate Professor of Pediatrics
type: Agent
type: Person
preferred title: Associate Professor of Pediatrics

Authorship 114743
type: Authorship
author rank in publication: 10
linked author: Irons, Mira
linked information resource: Further delineation of cardiac abnormalities in Costello syndrome.

Authorship 153676
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

Authorship 188528
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.

Authorship 194404
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Participation by clinical geneticists in genetic advocacy groups.

Authorship 243016
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1.

Authorship 170284
type: Authorship
author rank in publication: 8
linked author: Irons, Mira
linked information resource: MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.

Authorship 311377
type: Authorship
author rank in publication: 8
linked author: Irons, Mira
linked information resource: Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Authorship 311705
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis.

Authorship 415779
type: Authorship
author rank in publication: 10
linked author: Irons, Mira
linked information resource: Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.

Authorship 461836
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

Rockowitz, Shira
eCommons Login: SR384
first name: Shira
last name: Rockowitz
full name: Shira Rockowitz, Ph.D.
has faculty rank: Instructor
Person ID: 165932
person in primary position: Instructor in Pediatrics
type: Agent
type: Person
preferred title: Instructor in Pediatrics

Authorship 245206
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

Authorship 201189
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.

Chung, Wendy
eCommons Login: wec138
first name: Wendy
last name: Chung
full name: Wendy Chung, M.D., Ph.D.
has faculty rank: Full Professor
Person ID: 214837
person in primary position: Mary Ellen Avery Professor of Pediatrics
type: Agent
type: Person
preferred title: Mary Ellen Avery Professor of Pediatrics

Authorship 186731
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Authorship 48995
type: Authorship
author rank in publication: 6
linked author: Irons, Mira
linked information resource: The biology and management of laryngeal neurofibroma.

Authorship 1626928
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Focused Revision: ACMG practice resource: Genetic evaluation of short stature.

Authorship 1626938
type: Authorship
author rank in publication: 63
linked author: Irons, Mira
linked information resource: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authorship 1626919
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats.

Authorship 1628247
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.

Authorship 1627690
type: Authorship
author rank in publication: 6
linked author: Irons, Mira
linked information resource: Trustworthy Augmented Intelligence in Health Care.

Authorship 1627664
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Longitudinal assessments in continuing specialty certification and lifelong learning.

Trustworthy Augmented Intelligence in Health Care.
PubMed Identifier: 35020064
author list: Crigger E, Reinbold K, Hanson C, Kao A, Blake K, Irons M
published in: Journal of medical systems
information resource reference: Trustworthy Augmented Intelligence in Health Care. J Med Syst. 2022 Jan 12; 46(2):12.
journal title abbreviation: J Med Syst
publication date: 2022-01-12T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
PubMed Identifier: 33514815
author list: Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med. 2021 05; 23(5):813-815.
journal title abbreviation: Genet Med
publication date: 2021-01-29T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Longitudinal assessments in continuing specialty certification and lifelong learning.
PubMed Identifier: 29793376
author list: Price DW, Swanson DB, Irons MB, Hawkins RE
published in: Medical teacher
information resource reference: Longitudinal assessments in continuing specialty certification and lifelong learning. Med Teach. 2018 09; 40(9):917-919.
journal title abbreviation: Med Teach
publication date: 2018-05-24T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 55036
type: Authorship
author rank in publication: 7
linked author: Irons, Mira
linked information resource: Skeletal anomalies and deformities in patients with deletions of 22q11.

Authorship 363995
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.

William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology
is primary position: true
position in department: Obstetrics Gynecology & Repro. Bio.
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
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HR job title: William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology
position in organization: Brigham and Women's Hospital

Authorship 43489
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.

Authorship 252085
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Screening for metabolic disorders. How are we doing?

Authorship 35482
type: Authorship
author rank in publication: 11
linked author: Irons, Mira
linked information resource: The phenotype of recurrent 10q22q23 deletions and duplications.

Authorship 187740
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1.

Authorship 1710894
type: Authorship
author rank in publication: 13
linked author: Irons, Mira
linked information resource: Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
PubMed Identifier: 39622807
author list: French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P
published in: NPJ genomic medicine
information resource reference: Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60.
journal title abbreviation: NPJ Genom Med
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Authorship 537119
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: The genetics clinic: where does the time go?

Authorship 250483
type: Authorship
author rank in publication: 9
linked author: Irons, Mira
linked information resource: Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Authorship 159144
type: Authorship
author rank in publication: 12
linked author: Irons, Mira
linked information resource: Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.

Authorship 27473
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Clinical picture: Multicolour karyotyping.

Authorship 358571
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Folinic acid therapy in treatment of dihydropteridine reductase deficiency.

Authorship 1743190
type: Authorship
author rank in publication: 6
linked author: Irons, Mira
linked information resource: Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.
PubMed Identifier: 40156476
author list: Douiev L, Alvarez PF, Frank M, Hanington L, Hoffman TL, Irons MB, Kim J, Kumar A, Lasa-Aranzasti A, Le Duc D, Livesey H, Murch O, Shears D, Walther BK, Harel T
published in: American journal of medical genetics. Part A
information resource reference: Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants. Am J Med Genet A. 2025 Aug; 197(8):e64048.
journal title abbreviation: Am J Med Genet A
publication date: 2025-03-29T00:00:00
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type: Article
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Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.
PubMed Identifier: 40219605
author list: McGivern B, Holling T, Guillen Sacoto MJ, Gudbjartsson H, Abdelrazek IM, Alawi M, Bai Y, Bodamer O, Crunk A, Dameron AE, Dyer LM, Henderson LB, Irons M, Kutsche K, McGowan C, Monaghan KG, O'Connor K, Rashid A, Redlich OL, Reich A, Simotas C, Welner S, Wentzensen IM
published in: HGG advances
information resource reference: Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. HGG Adv. 2025 Jul 10; 6(3):100438.
journal title abbreviation: HGG Adv
publication date: 2025-04-11T00:00:00
year: 2025
type: Academic Article
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Authorship 266245
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Authorship 266389
type: Authorship
author rank in publication: 6
linked author: Irons, Mira
linked information resource: The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.

Authorship 66840
type: Authorship
author rank in publication: 7
linked author: Irons, Mira
linked information resource: Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.

Authorship 332589
type: Authorship
author rank in publication: 12
linked author: Irons, Mira
linked information resource: Toriello-Carey syndrome: delineation and review.

Authorship 258724
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).

Authorship 231067
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.

Authorship 352120
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

Authorship 373398
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.

Authorship 1767346
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

Authorship 1773597
type: Authorship
author rank in publication: 13
linked author: Irons, Mira
linked information resource: Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

Authorship 1814856
type: Authorship
author rank in publication: 11
linked author: Irons, Mira
linked information resource: Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Authorship 1841963
type: Authorship
author rank in publication: 7
linked author: Irons, Mira
linked information resource: Clinicians and Professional Societies COVID-19 Impact Assessment: Lessons Learned and Compelling Needs.

Clinicians and Professional Societies COVID-19 Impact Assessment: Lessons Learned and Compelling Needs.
PubMed Identifier: 34532690
author list: Madara J, Miyamoto S, Farley JE, Gong M, Gorham M, Humphrey H, Irons M, Mehrotra A, Resneck J, Rushton C, Shanafelt T
published in: NAM perspectives
information resource reference: Clinicians and Professional Societies COVID-19 Impact Assessment: Lessons Learned and Compelling Needs. NAM Perspect. 2021; 2021.
journal title abbreviation: NAM Perspect
publication date: 2021-05-17T00:00:00
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type: Article
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Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
PubMed Identifier: 41715921
author list: Rockowitz S, Shao W, French C, Truong TK, Hagen J, McGonigle R, Geltzeiler A, Sheidley B, Smith L, D'Gama AM, Irons M, Chou J, Stoler J, Kritzer A, Rodan L, Shimamura A, Bodamer O, Sacharow S, Soul JS, Srivastava S, Kennedy AR, Abu-El-Haija A, Lai A, Olson H, Juusola J, Ryan E, Friedman B, Singh A, Li C, Mallik R, Strickland G, Prinzing G, Mo A, O'Donnell-Luria A, Bolton J, Boone PM, Brucker W, Duyzend M, Mahida S, Miller DT, Omorodion J, Petit J, Picker J, Poduri A, Carlston C, Wojcik MH, Sliz P, Chung WK
published in: HGG advances
information resource reference: Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. HGG Adv. 2026 Apr 09; 7(2):100582.
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General Pediatrics
type: Division
type: Organization

Professor of Pediatrics, Part-time
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position in department: Pediatrics
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sort order: 1
type: Position
HR job title: Professor of Pediatrics, Part-time
position in organization: Massachusetts General Hospital

Authorship 739498
type: Authorship
author rank in publication: 13
linked author: Irons, Mira
linked information resource: Copy number variation plays an important role in clinical epilepsy.

Copy number variation plays an important role in clinical epilepsy.
PubMed Identifier: 24811917
author list: Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A
published in: Annals of neurology
information resource reference: Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.
journal title abbreviation: Ann Neurol
publication date: 2014-06-13T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Mary Ellen Avery Professor of Pediatrics
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HR job title: Mary Ellen Avery Professor of Pediatrics
position in organization: Boston Children's Hospital

Instructor in Pediatrics
is primary position: true
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position in division: Genetics
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type: Position
HR job title: Instructor in Pediatrics
position in organization: Boston Children's Hospital

Professor of Neurology
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position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
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HR job title: Professor of Neurology
position in organization: Boston Children's Hospital

Professor of the Practice in the Department of Pediatrics
is primary position: true
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position in organization: Boston Children's Hospital

Associate Professor of Pediatrics
is primary position: true
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position in organization: Boston Children's Hospital

Instructor in Pediatrics
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HR job title: Instructor in Pediatrics
position in organization: Boston Children's Hospital

Member of the Faculty of Pediatrics
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HR job title: Member of the Faculty of Pediatrics
position in organization: Boston Children's Hospital

Professor of Pediatrics
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Instructor in Pediatrics, Part-time
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Lecturer on Pediatrics
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HR job title: Lecturer on Pediatrics
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Associate Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Cardiology
sort order: 1
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HR job title: Associate Professor of Pediatrics
position in organization: Boston Children's Hospital

Bullard Professor of Pediatrics and Neurology
is primary position: true
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sort order: 1
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HR job title: Bullard Professor of Pediatrics and Neurology
position in organization: Boston Children's Hospital

Authorship 35376
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

Authorship 403318
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: [18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation.

Authorship 238864
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization.

Authorship 445732
type: Authorship
author rank in publication: 11
linked author: Irons, Mira
linked information resource: Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.

Authorship 497438
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Utility of hemodialysis in maple syrup urine disease.

Authorship 778469
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Maintenance of certification 2.0--strong start, continued evolution.

Maintenance of certification 2.0--strong start, continued evolution.
PubMed Identifier: 25564894
author list: Irons MB, Nora LM
published in: The New England journal of medicine
information resource reference: Maintenance of certification 2.0--strong start, continued evolution. N Engl J Med. 2015 Jan 08; 372(2):104-6.
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publication date: 2015-01-08T00:00:00
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type: Academic Article
type: Article
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type: Information Resource

Authorship 536110
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Authorship 552844
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1.

Authorship 304686
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Antenatal therapy of Smith-Lemli-Opitz syndrome.

Authorship 384942
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

Authorship 214608
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author rank in publication: 3
linked author: Irons, Mira
linked information resource: Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.

Authorship 454675
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Metabolic syndromes with dermatologic manifestations.

Authorship 425838
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality.

Authorship 175007
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Authorship 22606
type: Authorship
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linked author: Irons, Mira
linked information resource: Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

Authorship 242867
type: Authorship
author rank in publication: 19
linked author: Irons, Mira
linked information resource: Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Authorship 34967
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: ACMG practice guideline: genetic evaluation of short stature.

Authorship 312337
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Brainstem lesions in neurofibromatosis type 1.

Authorship 386525
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.

Authorship 405369
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Competencies for the physician medical geneticist in the 21st century.

Authorship 213275
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.

Authorship 406354
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.

Authorship 455752
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author rank in publication: 1
linked author: Irons, Mira
linked information resource: Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

Authorship 57003
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author rank in publication: 2
linked author: Irons, Mira
linked information resource: The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion.

Authorship 528925
type: Authorship
author rank in publication: 7
linked author: Irons, Mira
linked information resource: Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Authorship 574907
type: Authorship
author rank in publication: 6
linked author: Irons, Mira
linked information resource: Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.

Authorship 288201
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance.

Authorship 340109
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.

Authorship 48099
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.

Authorship 456790
type: Authorship
author rank in publication: 7
linked author: Irons, Mira
linked information resource: Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Authorship 287880
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.

Authorship 389285
type: Authorship
author rank in publication: 6
linked author: Irons, Mira
linked information resource: Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

Authorship 855370
type: Authorship
author rank in publication: 3
linked author: Irons, Mira
linked information resource: Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification.

Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification.
PubMed Identifier: 26445083
author list: Nora LM, Pouwels MV, Irons M
published in: Academic medicine : journal of the Association of American Medical Colleges
information resource reference: Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification. Acad Med. 2016 Jan; 91(1):16-9.
journal title abbreviation: Acad Med
publication date: 2016-01-01T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 553076
type: Authorship
author rank in publication: 4
linked author: Irons, Mira
linked information resource: Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

Associate Professor
sort order: 1
type: Faculty Rank

Full Professor
sort order: 0
type: Faculty Rank

Instructor
sort order: 4
type: Faculty Rank

Lecturer
sort order: 3
type: Faculty Rank

Other Faculty
sort order: 5
type: Faculty Rank

Authorship 73250
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.

Authorship 507397
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: The call from the newborn screening laboratory: frustration in the afternoon.

Authorship 531614
type: Authorship
author rank in publication: 8
linked author: Irons, Mira
linked information resource: Chromosomal microarray testing influences medical management.

Authorship 6498
type: Authorship
author rank in publication: 8
linked author: Irons, Mira
linked information resource: Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1.

Authorship 79722
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts.

Authorship 506393
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Authorship 369478
type: Authorship
author rank in publication: 1
linked author: Irons, Mira
linked information resource: Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726.

Authorship 379447
type: Authorship
author rank in publication: 2
linked author: Irons, Mira
linked information resource: Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
PubMed Identifier: 27841880
author list: Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME
published in: Nature genetics
information resource reference: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.
journal title abbreviation: Nat Genet
publication date: 2016-11-14T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 550437
type: Authorship
author rank in publication: 18
linked author: Irons, Mira
linked information resource: Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats.
PubMed Identifier: 27355778
author list: Hawkins RE, Irons MB, Welcher CM, Pouwels MV, Holmboe ES, Reisdorff EJ, Cohen JM, Dentzer S, Nichols DG, Lien CA, Horn TD, Noone RB, Lipner RS, Eva KW, Norcini JJ, Nora LM, Gold JP
published in: Academic medicine : journal of the Association of American Medical Colleges
information resource reference: The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats. Acad Med. 2016 11; 91(11):1509-1515.
journal title abbreviation: Acad Med
publication date: 2016-11-01T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 88091
type: Authorship
author rank in publication: 17
linked author: Irons, Mira
linked information resource: Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Authorship 277566
type: Authorship
author rank in publication: 6
linked author: Irons, Mira
linked information resource: Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.

Authorship 343557
type: Authorship
author rank in publication: 13
linked author: Irons, Mira
linked information resource: 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Authorship 466857
type: Authorship
author rank in publication: 5
linked author: Irons, Mira
linked information resource: The development and implementation of an in-service exam for medical genetics residency programs.

300 Longwood Ave
type: Address
address line 1: Children's Hospital
address line 2: Genetics--Hunnewell 5
address line 3: 300 Longwood Ave
city: Boston
postal code: 02115
state or province: MA

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
PubMed Identifier: 8808751
author list: Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER
published in: Journal of lipid research
information resource reference: Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J Lipid Res. 1996 Jun; 37(6):1169-80.
journal title abbreviation: J Lipid Res
publication date: 1996-06-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.
PubMed Identifier: 8776024
author list: Elias ER, Irons M
published in: Current opinion in pediatrics
information resource reference: Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4.
journal title abbreviation: Curr Opin Pediatr
publication date: 1995-12-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
PubMed Identifier: 8919321
author list: Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER
published in: The Italian journal of gastroenterology
information resource reference: Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Ital J Gastroenterol. 1995 Dec; 27(9):506-8.
journal title abbreviation: Ital J Gastroenterol
publication date: 1995-12-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
PubMed Identifier: 10814720
author list: Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS
published in: Human molecular genetics
information resource reference: Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000 May 22; 9(9):1385-91.
journal title abbreviation: Hum Mol Genet
publication date: 2000-05-22T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
PubMed Identifier: 9024564
author list: Elias ER, Irons MB, Hurley AD, Tint GS, Salen G
published in: American journal of medical genetics
information resource reference: Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet. 1997 Jan 31; 68(3):305-10.
journal title abbreviation: Am J Med Genet
publication date: 1997-01-31T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.
PubMed Identifier: 16957476
author list: Lawson-Yuen A, Berend SA, Soul JS, Irons M
published in: Clinical dysmorphology
information resource reference: Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol. 2006 Oct; 15(4):217-220.
journal title abbreviation: Clin Dysmorphol
publication date: 2006-10-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.
PubMed Identifier: 10051173
author list: Bradley LA, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS
published in: American journal of medical genetics
information resource reference: Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet. 1999 Feb 12; 82(4):355-8.
journal title abbreviation: Am J Med Genet
publication date: 1999-02-12T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.
PubMed Identifier: 11389301
author list: Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M
published in: Pediatrics
information resource reference: Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics. 2001 Jun; 107(6):E103.
journal title abbreviation: Pediatrics
publication date: 2001-06-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
PubMed Identifier: 15965973
author list: Alkuraya FS, Picker J, Irons MB, Kimonis VE
published in: Birth defects research. Part A, Clinical and molecular teratology
information resource reference: Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):569-71.
journal title abbreviation: Birth Defects Res A Clin Mol Teratol
publication date: 2005-08-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.
PubMed Identifier: 8957515
author list: Irons MB, Bianchi DW, Geggel RL, Marx GR, Bhan I
published in: American journal of medical genetics
information resource reference: Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. Am J Med Genet. 1996 Dec 02; 66(1):69-71.
journal title abbreviation: Am J Med Genet
publication date: 1996-12-02T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Further delineation of cardiac abnormalities in Costello syndrome.
PubMed Identifier: 12210337
author list: Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, Nicholson L
published in: American journal of medical genetics
information resource reference: Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29.
journal title abbreviation: Am J Med Genet
publication date: 2002-08-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726.
PubMed Identifier: 15496612
author list: Irons MB
published in: Pediatric research
information resource reference: Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726. Pediatr Res. 2004 Nov; 56(5):679-81.
journal title abbreviation: Pediatr Res
publication date: 2004-11-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
PubMed Identifier: 17172942
author list: del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
journal title abbreviation: Genet Med
publication date: 2006-12-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
PubMed Identifier: 9288091
author list: Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML
published in: Nature genetics
information resource reference: Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997 Sep; 17(1):18-9.
journal title abbreviation: Nat Genet
publication date: 1997-09-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Participation by clinical geneticists in genetic advocacy groups.
PubMed Identifier: 12707968
author list: Lin AE, Terry SF, Lerner B, Anderson R, Irons M
published in: American journal of medical genetics. Part A
information resource reference: Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet A. 2003 May 15; 119A(1):89-92.
journal title abbreviation: Am J Med Genet A
publication date: 2003-05-15T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.
PubMed Identifier: 12910486
author list: Wu BL, Kenna M, Lip V, Irons M, Platt O
published in: American journal of medical genetics. Part A
information resource reference: Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A. 2003 Aug 30; 121A(2):102-8.
journal title abbreviation: Am J Med Genet A
publication date: 2003-08-30T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
PubMed Identifier: 11486912
author list: Albers S, Levy HL, Irons M, Strauss AW, Marsden D
published in: Journal of inherited metabolic disease
information resource reference: Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2001 Jun; 24(3):417-8.
journal title abbreviation: J Inherit Metab Dis
publication date: 2001-06-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
PubMed Identifier: 9024565
author list: Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G
published in: American journal of medical genetics
information resource reference: Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31; 68(3):311-4.
journal title abbreviation: Am J Med Genet
publication date: 1997-01-31T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
PubMed Identifier: 9706645
author list: Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G
published in: Prenatal diagnosis
information resource reference: Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8.
journal title abbreviation: Prenat Diagn
publication date: 1998-07-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
PubMed Identifier: 2878984
author list: Irons M, Levy HL, O'Flynn ME, Stack CV, Langlais PJ, Butler IJ, Milstien S, Kaufman S
published in: The Journal of pediatrics
information resource reference: Folinic acid therapy in treatment of dihydropteridine reductase deficiency. J Pediatr. 1987 Jan; 110(1):61-7.
journal title abbreviation: J Pediatr
publication date: 1987-01-01T00:00:00
year: 1987
type: Academic Article
type: Article
type: Document
type: Information Resource

Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
PubMed Identifier: 22040220
author list: Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE
published in: Clinical genetics
information resource reference: Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. Clin Genet. 2011 Dec; 80(6):600-1.
journal title abbreviation: Clin Genet
publication date: 2011-12-01T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality.
PubMed Identifier: 2092835
author list: Thayer B, Braddock B, Spitzer K, Irons M, Miller W, Bailey I, Rosenbaum B, Blatt RJ
published in: Birth defects original article series
information resource reference: Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality. Birth Defects Orig Artic Ser. 1990; 26(3):149-56.
journal title abbreviation: Birth Defects Orig Artic Ser
publication date: 1990-01-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.
PubMed Identifier: 9988879
author list: Stewart TL, Irons MB, Cowan JM, Bianchi DW
published in: Teratology
information resource reference: Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology. 1999 Jan; 59(1):20-2.
journal title abbreviation: Teratology
publication date: 1999-01-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Antenatal therapy of Smith-Lemli-Opitz syndrome.
PubMed Identifier: 10364662
author list: Irons MB, Nores J, Stewart TL, Craigo SD, Bianchi DW, D'Alton ME, Tint GS, Salen G, Bradley LA
published in: Fetal diagnosis and therapy
information resource reference: Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther. 1999 May-Jun; 14(3):133-7.
journal title abbreviation: Fetal Diagn Ther
publication date: 1999-05-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
PubMed Identifier: 15580636
author list: Alkuraya FS, Lin AE, Irons MB, Kimonis VE
published in: American journal of medical genetics. Part A
information resource reference: Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30.
journal title abbreviation: Am J Med Genet A
publication date: 2005-01-15T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.
PubMed Identifier: 17910064
author list: Baris HN, Tan WH, Kimonis VE, Irons MB
published in: American journal of medical genetics. Part A
information resource reference: Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A. 2007 Nov 01; 143A(21):2523-33.
journal title abbreviation: Am J Med Genet A
publication date: 2007-11-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical picture: Multicolour karyotyping.
PubMed Identifier: 11458963
author list: Lee C, Murray MF, Miron PM, Marsden D, Irons M, Wilkins-Haug LE, Morton CC
published in: Lancet (London, England)
information resource reference: Clinical picture: Multicolour karyotyping. Lancet. 2001 Apr 21; 357(9264):1240.
journal title abbreviation: Lancet
publication date: 2001-04-21T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Toriello-Carey syndrome: delineation and review.
PubMed Identifier: 14556252
author list: Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E
published in: American journal of medical genetics. Part A
information resource reference: Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
journal title abbreviation: Am J Med Genet A
publication date: 2003-11-15T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.
PubMed Identifier: 14605787
author list: Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB
published in: Neuroradiology
information resource reference: MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14.
journal title abbreviation: Neuroradiology
publication date: 2003-11-05T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
PubMed Identifier: 20468056
author list: Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
publication date: 2010-06-05T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
PubMed Identifier: 7560069
author list: Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF
published in: The Journal of clinical investigation
information resource reference: Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest. 1995 Oct; 96(4):1779-85.
journal title abbreviation: J Clin Invest
publication date: 1995-10-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

ACMG practice guideline: genetic evaluation of short stature.
PubMed Identifier: 19451827
author list: Seaver LH, Irons M
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009 Jun; 11(6):465-70.
journal title abbreviation: Genet Med
publication date: 2009-06-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
PubMed Identifier: 20440536
author list: Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB
published in: Documenta ophthalmologica. Advances in ophthalmology
information resource reference: Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91.
journal title abbreviation: Doc Ophthalmol
publication date: 2010-05-04T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
PubMed Identifier: 28719049
author list: Prosnitz AR, Leopold J, Irons M, Jenkins K, Roberts AE
published in: Congenital heart disease
information resource reference: Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul; 12(4):475-483.
journal title abbreviation: Congenit Heart Dis
publication date: 2017-07-18T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
PubMed Identifier: 9602484
author list: Irons MB, Tint GS
published in: Prenatal diagnosis
information resource reference: Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn. 1998 Apr; 18(4):369-72.
journal title abbreviation: Prenat Diagn
publication date: 1998-04-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
PubMed Identifier: 16892302
author list: Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE
published in: American journal of medical genetics. Part A
information resource reference: Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006 Sep 01; 140A(17):1876-9.
journal title abbreviation: Am J Med Genet A
publication date: 2006-09-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

The genetics clinic: where does the time go?
PubMed Identifier: 18978676
author list: Irons M
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: The genetics clinic: where does the time go? Genet Med. 2008 Sep; 10(9):657-8.
journal title abbreviation: Genet Med
publication date: 2008-09-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1.
PubMed Identifier: 20823033
author list: Ullrich NJ, Zimmerman M, Smith E, Irons M, Marcus K, Kieran MW
published in: Journal of child neurology
information resource reference: Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1. J Child Neurol. 2011 Feb; 26(2):228-30.
journal title abbreviation: J Child Neurol
publication date: 2010-09-07T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

The phenotype of recurrent 10q22q23 deletions and duplications.
PubMed Identifier: 21248748
author list: van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB
published in: European journal of human genetics : EJHG
information resource reference: The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8.
journal title abbreviation: Eur J Hum Genet
publication date: 2011-01-19T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
PubMed Identifier: 11050627
author list: Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P
published in: American journal of medical genetics
information resource reference: Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Am J Med Genet. 2000 Oct 23; 94(5):405-8.
journal title abbreviation: Am J Med Genet
publication date: 2000-10-23T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

The call from the newborn screening laboratory: frustration in the afternoon.
PubMed Identifier: 15157599
author list: Rhead WJ, Irons M
published in: Pediatric clinics of North America
information resource reference: The call from the newborn screening laboratory: frustration in the afternoon. Pediatr Clin North Am. 2004 Jun; 51(3):803-18, xii.
journal title abbreviation: Pediatr Clin North Am
publication date: 2004-06-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
PubMed Identifier: 12172394
author list: Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug; 4(4):279-88.
journal title abbreviation: Genet Med
publication date: 2002-07-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.
PubMed Identifier: 15264280
author list: Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M
published in: American journal of medical genetics. Part A
information resource reference: Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 01; 128A(4):352-63.
journal title abbreviation: Am J Med Genet A
publication date: 2004-08-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
PubMed Identifier: 15852040
author list: Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG
published in: European journal of human genetics : EJHG
information resource reference: Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May; 13(5):528-40.
journal title abbreviation: Eur J Hum Genet
publication date: 2005-05-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
PubMed Identifier: 17901113
author list: Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL
published in: Clinical chemistry
information resource reference: Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
journal title abbreviation: Clin Chem
publication date: 2007-09-27T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

The development and implementation of an in-service exam for medical genetics residency programs.
PubMed Identifier: 22281936
author list: Robin NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: The development and implementation of an in-service exam for medical genetics residency programs. Genet Med. 2012 May; 14(5):552-7.
journal title abbreviation: Genet Med
publication date: 2012-01-26T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization.
PubMed Identifier: 23373626
author list: Koss M, Scott RM, Irons MB, Smith ER, Ullrich NJ
published in: Journal of neurosurgery. Pediatrics
information resource reference: Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization. J Neurosurg Pediatr. 2013 Apr; 11(4):417-25.
journal title abbreviation: J Neurosurg Pediatr
publication date: 2013-02-01T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
PubMed Identifier: 17526801
author list: Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, Fishman SJ, Irons MB
published in: Journal of medical genetics
information resource reference: The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007 Sep; 44(9):594-602.
journal title abbreviation: J Med Genet
publication date: 2007-05-25T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
PubMed Identifier: 8259166
author list: Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G
published in: The New England journal of medicine
information resource reference: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13; 330(2):107-13.
journal title abbreviation: N Engl J Med
publication date: 1994-01-13T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.
PubMed Identifier: 9090293
author list: Tint GS, Batta AK, Xu G, Shefer S, Honda A, Irons M, Elias ER, Salen G
published in: Sub-cellular biochemistry
information resource reference: The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Subcell Biochem. 1997; 28:117-44.
journal title abbreviation: Subcell Biochem
publication date: 1997-01-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 100100
type: Authorship
author rank in publication: 8
linked author: Irons, Mira
linked information resource: The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.