Professor of the Practice in the Department of Pediatrics
Williard DE, Nwankwo JO, Kaduce TL, Harmon SD, Irons M, Moser HW, Raymond GV, Spector AA
Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. J Lipid Res. 2001 Apr; 42(4):501-8.
Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts.
Irons M, Elias ER, Salen G, Tint GS, Batta AK
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993 May 29; 341(8857):1414.
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH
American journal of medical genetics. Part A
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.
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis. Curr Opin Pediatr. 2003 Dec; 15(6):594-7.
Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis.
Rahbar R, Litrovnik BG, Vargas SO, Robson CD, Nuss RC, Irons MB, McGill TJ, Healy GB
Archives of otolaryngology--head & neck surgery
The biology and management of laryngeal neurofibroma. Arch Otolaryngol Head Neck Surg. 2004 Dec; 130(12):1400-6.
The biology and management of laryngeal neurofibroma.
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
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81.
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
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
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.
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Ullrich NJ, Ayr L, Leaffer E, Irons MB, Rey-Casserly C
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.
Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1.
Mueller C, Patel S, Irons M, Antshel K, Salen G, Tint GS, Bay C
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.
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
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
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn. 2006 Sep; 26(9):842-9.
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
Hsich GE, Robertson RL, Irons M, Soul JS, du Plessis AJ
Cerebral infarction in Menkes' disease. Pediatr Neurol. 2000 Nov; 23(5):425-8.
American journal of medical genetics. Part C, Seminars in medical genetics
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 2012 Nov 15; 160C(4):250-62.
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R
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.
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
Lockwood C, Irons M, Troiani J, Kawada C, Chaudhury A, Cetrulo C
American journal of obstetrics and gynecology
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.
The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion.
Zarowski M, Vendrame M, Irons M, Kothare SV
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2011 Jul; 155A(7):1558-62.
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salen G
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.
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.
Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. J Pediatr. 1985 Aug; 107(2):261-3.
Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance.
Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, Goumnerova LC, Irons MB, Ullrich NJ
Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer. 2010 Jul 01; 54(7):890-6.
Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1.
Arrington DK, Danehy AR, Peleggi A, Proctor MR, Irons MB, Ullrich NJ
Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2013 Apr; 11(4):410-6.
Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1.
Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M
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.
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
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
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A. 2004 Aug 01; 128A(4):340-51.
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
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
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009 Nov 18; 302(19):2111-8.
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M
Genetics in medicine : official journal of the American College of Medical Genetics
Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6.
Chromosomal microarray testing influences medical management.
Competencies for the physician medical geneticist in the 21st century. Genet Med. 2011 Nov; 13(11):911-2.
Competencies for the physician medical geneticist in the 21st century.
Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ
Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol. 2002 Apr; 17(4):239-42.
Utility of hemodialysis in maple syrup urine disease.
Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB
Archives of ophthalmology (Chicago, Ill. : 1960)
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec; 121(12):1738-43.
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.
Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M
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.
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.
Screening for metabolic disorders. How are we doing? Pediatr Clin North Am. 1993 Oct; 40(5):1073-85.
Screening for metabolic disorders. How are we doing?
Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH
Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet. 1997 Oct 17; 72(2):210-5.
Skeletal anomalies and deformities in patients with deletions of 22q11.
Ullrich NJ, Raja AI, Irons MB, Kieran MW, Goumnerova L
Brainstem lesions in neurofibromatosis type 1. Neurosurgery. 2007 Oct; 61(4):762-6; discussion 766-7.
Brainstem lesions in neurofibromatosis type 1.
Tsai LL, Drubach L, Fahey F, Irons M, Voss S, Ullrich NJ
[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.
[18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation.
Metabolic syndromes with dermatologic manifestations. Clin Rev Allergy. 1986 Feb; 4(1):101-24.
Metabolic syndromes with dermatologic manifestations.
Bullard Professor of Pediatrics and Neurology
William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology
Mary Ellen Avery Professor of Pediatrics
Crigger E, Reinbold K, Hanson C, Kao A, Blake K, Irons M
Trustworthy Augmented Intelligence in Health Care. J Med Syst. 2022 Jan 12; 46(2):12.
Trustworthy Augmented Intelligence in Health Care.
Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R
Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med. 2021 05; 23(5):813-815.
Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Price DW, Swanson DB, Irons MB, Hawkins RE
Longitudinal assessments in continuing specialty certification and lifelong learning. Med Teach. 2018 09; 40(9):917-919.
Longitudinal assessments in continuing specialty certification and lifelong learning.
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
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60.
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
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
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants. Am J Med Genet A. 2025 Aug; 197(8):e64048.
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.
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
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. HGG Adv. 2025 Jul 10; 6(3):100438.
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.
Madara J, Miyamoto S, Farley JE, Gong M, Gorham M, Humphrey H, Irons M, Mehrotra A, Resneck J, Rushton C, Shanafelt T
Clinicians and Professional Societies COVID-19 Impact Assessment: Lessons Learned and Compelling Needs. NAM Perspect. 2021; 2021.
Clinicians and Professional Societies COVID-19 Impact Assessment: Lessons Learned and Compelling Needs.
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
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. HGG Adv. 2026 Apr 09; 7(2):100582.
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
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
Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.
Copy number variation plays an important role in clinical epilepsy.
Maintenance of certification 2.0--strong start, continued evolution. N Engl J Med. 2015 Jan 08; 372(2):104-6.
Maintenance of certification 2.0--strong start, continued evolution.
Academic medicine : journal of the Association of American Medical Colleges
Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification. Acad Med. 2016 Jan; 91(1):16-9.
Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification.
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
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
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
The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats. Acad Med. 2016 11; 91(11):1509-1515.
The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats.
Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J Lipid Res. 1996 Jun; 37(6):1169-80.
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4.
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.
Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Ital J Gastroenterol. 1995 Dec; 27(9):506-8.
Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS
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.
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
Elias ER, Irons MB, Hurley AD, Tint GS, Salen G
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.
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
Lawson-Yuen A, Berend SA, Soul JS, Irons M
Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol. 2006 Oct; 15(4):217-220.
Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.
Bradley LA, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS
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.
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.
Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics. 2001 Jun; 107(6):E103.
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.
Alkuraya FS, Picker J, Irons MB, Kimonis VE
Birth defects research. Part A, Clinical and molecular teratology
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.
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Irons MB, Bianchi DW, Geggel RL, Marx GR, Bhan I
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.
Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.
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
Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29.
Further delineation of cardiac abnormalities in Costello syndrome.
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.
Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726.
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
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997 Sep; 17(1):18-9.
Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
Lin AE, Terry SF, Lerner B, Anderson R, Irons M
Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet A. 2003 May 15; 119A(1):89-92.
Participation by clinical geneticists in genetic advocacy groups.
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.
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.
Albers S, Levy HL, Irons M, Strauss AW, Marsden D
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2001 Jun; 24(3):417-8.
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31; 68(3):311-4.
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8.
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
Irons M, Levy HL, O'Flynn ME, Stack CV, Langlais PJ, Butler IJ, Milstien S, Kaufman S
Folinic acid therapy in treatment of dihydropteridine reductase deficiency. J Pediatr. 1987 Jan; 110(1):61-7.
Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE
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.
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
Thayer B, Braddock B, Spitzer K, Irons M, Miller W, Bailey I, Rosenbaum B, Blatt RJ
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.
Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality.
Stewart TL, Irons MB, Cowan JM, Bianchi DW
Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology. 1999 Jan; 59(1):20-2.
Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.
Irons MB, Nores J, Stewart TL, Craigo SD, Bianchi DW, D'Alton ME, Tint GS, Salen G, Bradley LA
Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther. 1999 May-Jun; 14(3):133-7.
Antenatal therapy of Smith-Lemli-Opitz syndrome.
Alkuraya FS, Lin AE, Irons MB, Kimonis VE
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30.
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A. 2007 Nov 01; 143A(21):2523-33.
Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.
Lee C, Murray MF, Miron PM, Marsden D, Irons M, Wilkins-Haug LE, Morton CC
Clinical picture: Multicolour karyotyping. Lancet. 2001 Apr 21; 357(9264):1240.
Clinical picture: Multicolour karyotyping.
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
Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
Toriello-Carey syndrome: delineation and review.
Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14.
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.
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
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF
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.
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009 Jun; 11(6):465-70.
ACMG practice guideline: genetic evaluation of short stature.
Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB
Documenta ophthalmologica. Advances in ophthalmology
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91.
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
Prosnitz AR, Leopold J, Irons M, Jenkins K, Roberts AE
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul; 12(4):475-483.
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn. 1998 Apr; 18(4):369-72.
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
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
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.
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
The genetics clinic: where does the time go? Genet Med. 2008 Sep; 10(9):657-8.
The genetics clinic: where does the time go?
Ullrich NJ, Zimmerman M, Smith E, Irons M, Marcus K, Kieran MW
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.
Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1.
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
European journal of human genetics : EJHG
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8.
The phenotype of recurrent 10q22q23 deletions and duplications.
Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Am J Med Genet. 2000 Oct 23; 94(5):405-8.
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
The call from the newborn screening laboratory: frustration in the afternoon. Pediatr Clin North Am. 2004 Jun; 51(3):803-18, xii.
The call from the newborn screening laboratory: frustration in the afternoon.
Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O
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.
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M
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.
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.
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
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.
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Robin NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L
The development and implementation of an in-service exam for medical genetics residency programs. Genet Med. 2012 May; 14(5):552-7.
The development and implementation of an in-service exam for medical genetics residency programs.
Koss M, Scott RM, Irons MB, Smith ER, Ullrich NJ
Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization. J Neurosurg Pediatr. 2013 Apr; 11(4):417-25.
Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization.
Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, Fishman SJ, Irons MB
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007 Sep; 44(9):594-602.
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13; 330(2):107-13.
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
Tint GS, Batta AK, Xu G, Shefer S, Honda A, Irons M, Elias ER, Salen G
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.
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.