Amr, Sami
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first name: Sami
last name: Amr
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full name: Sami Samir Amr, Ph.D.
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selected publications: Authorship 1771874
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Authorship 1058908
type: Authorship
author rank in publication: 6
linked author: Amr, Sami
linked information resource: Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.
PubMed Identifier: 29655801
author list: Austin-Tse CA, Mandelker DL, Oza AM, Mason-Suares H, Rehm HL, Amr SS
published in: European journal of medical genetics
information resource reference: Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants. Eur J Med Genet. 2018 Oct; 61(10):621-626.
journal title abbreviation: Eur J Med Genet
publication date: 2018-04-12T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1077409
type: Authorship
author rank in publication: 7
linked author: Amr, Sami
linked information resource: Mediastinal Ectopic Pancreas with Abundant Endocrine Cells Coexisting with Mediastinal Cyst and Thymic Hyperplasia.

Mediastinal Ectopic Pancreas with Abundant Endocrine Cells Coexisting with Mediastinal Cyst and Thymic Hyperplasia.
PubMed Identifier: 29977637
author list: Snak Y, Dwianingsih EK, Sumpono ASB, Panji R, Rahman A, Ghozali A, Amr SS
published in: Case reports in pathology
information resource reference: Mediastinal Ectopic Pancreas with Abundant Endocrine Cells Coexisting with Mediastinal Cyst and Thymic Hyperplasia. Case Rep Pathol. 2018; 2018:8270516.
journal title abbreviation: Case Rep Pathol
publication date: 2018-05-27T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
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Authorship 1087242
type: Authorship
author rank in publication: 10
linked author: Amr, Sami
linked information resource: Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
PubMed Identifier: 30096381
author list: DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN
published in: The Journal of molecular diagnostics : JMD
information resource reference: Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. J Mol Diagn. 2018 11; 20(6):789-801.
journal title abbreviation: J Mol Diagn
publication date: 2018-08-08T00:00:00
year: 2018
type: Academic Article
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Authorship 1103608
type: Authorship
author rank in publication: 25
linked author: Amr, Sami
linked information resource: The eMERGE genotype set of 83,717 subjects imputed to ~40?million variants genome wide and association with the herpes zoster medical record phenotype.

Authorship 1102903
type: Authorship
author rank in publication: 21
linked author: Amr, Sami
linked information resource: Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Authorship 1105789
type: Authorship
author rank in publication: 3
linked author: Amr, Sami
linked information resource: Gallbladder cancer in Eastern Province of Saudi Arabia: A retrospective cohort study.

Authorship 1100715
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author rank in publication: 3
linked author: Amr, Sami
linked information resource: Primary squamous cell carcinoma of the gallbladder: Report of a rare neoplasm from the Eastern Province of Saudi Arabia.

Gallbladder cancer in Eastern Province of Saudi Arabia: A retrospective cohort study.
PubMed Identifier: 30294442
author list: Aldossary MY, Alayed AA, Amr SS, Alqahtani S, Alnahawi M, Alqahtani MS
published in: Annals of medicine and surgery (2012)
information resource reference: Gallbladder cancer in Eastern Province of Saudi Arabia: A retrospective cohort study. Ann Med Surg (Lond). 2018 Nov; 35:117-123.
journal title abbreviation: Ann Med Surg (Lond)
publication date: 2018-09-26T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
PubMed Identifier: 30311386
author list: Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN
published in: Human mutation
information resource reference: Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 11; 39(11):1593-1613.
journal title abbreviation: Hum Mutat
publication date: 2018-11-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

The eMERGE genotype set of 83,717 subjects imputed to ~40?million variants genome wide and association with the herpes zoster medical record phenotype.
PubMed Identifier: 30298529
author list: Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP, Crosslin DR
published in: Genetic epidemiology
information resource reference: The eMERGE genotype set of 83,717 subjects imputed to ~40?million variants genome wide and association with the herpes zoster medical record phenotype. Genet Epidemiol. 2019 02; 43(1):63-81.
journal title abbreviation: Genet Epidemiol
publication date: 2018-10-08T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Primary squamous cell carcinoma of the gallbladder: Report of a rare neoplasm from the Eastern Province of Saudi Arabia.
PubMed Identifier: 30176555
author list: Aldossary MY, Alayed AA, Amr S, Alqahtani MS
published in: International journal of surgery case reports
information resource reference: Primary squamous cell carcinoma of the gallbladder: Report of a rare neoplasm from the Eastern Province of Saudi Arabia. Int J Surg Case Rep. 2018; 51:186-189.
journal title abbreviation: Int J Surg Case Rep
publication date: 2018-08-30T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1118938
type: Authorship
author rank in publication: 6
linked author: Amr, Sami
linked information resource: Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.

Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.
PubMed Identifier: 30545357
author list: Fowler C, Cserti-Gazdewich C, Dhabangi A, Musoke C, Sharma H, Amr SS, Dzik W
published in: Malaria journal
information resource reference: Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study. Malar J. 2018 Dec 13; 17(1):467.
journal title abbreviation: Malar J
publication date: 2018-12-13T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1127732
type: Authorship
author rank in publication: 3
linked author: Amr, Sami
linked information resource: Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.
PubMed Identifier: 30677751
author list: Nadol JB, Hedley-Whyte ET, Amr SS, O Apos Malley JT, Kamakura T
published in: Audiology & neuro-otology
information resource reference: Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene. Audiol Neurootol. 2018; 23(6):326-334.
journal title abbreviation: Audiol Neurootol
publication date: 2019-01-24T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1130019
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author rank in publication: 2
linked author: Amr, Sami
linked information resource: Gastrointestinal stromal tumors. A clinicopathological study.

Gastrointestinal stromal tumors. A clinicopathological study.
PubMed Identifier: 30723856
author list: Alghamdi HM, Amr SS, Shawarby MA, Sheikh SS, Alsayyah AA, Alamri AM, Ismail MH, Almarhabi A, Alrefaee MA, Ahmed MI
published in: Saudi medical journal
information resource reference: Gastrointestinal stromal tumors. A clinicopathological study. Saudi Med J. 2019 Feb; 40(2):126-130.
journal title abbreviation: Saudi Med J
publication date: 2019-02-01T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Otolaryngology Head and Neck Surgery
type: Department
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Authorship 1135401
type: Authorship
author rank in publication: 3
linked author: Amr, Sami
linked information resource: Carcinosarcoma of the Gallbladder with Chondrosarcomatous Differentiation and Intracytoplasmic Eosinophilic Hyaline Globules (Thanatosomes): A Report of a Case and Review of the Literature.

Carcinosarcoma of the Gallbladder with Chondrosarcomatous Differentiation and Intracytoplasmic Eosinophilic Hyaline Globules (Thanatosomes): A Report of a Case and Review of the Literature.
PubMed Identifier: 30881717
author list: Alratroot JA, Joudeh AA, Amr SS
published in: Case reports in pathology
information resource reference: Carcinosarcoma of the Gallbladder with Chondrosarcomatous Differentiation and Intracytoplasmic Eosinophilic Hyaline Globules (Thanatosomes): A Report of a Case and Review of the Literature. Case Rep Pathol. 2019; 2019:9697235.
journal title abbreviation: Case Rep Pathol
publication date: 2019-02-06T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Deafness
MeSH DescriptorUI: D003638
MeSH semantic group name: Disorders
number of authors: 218
number of publications: 445
uniqueness weight: 0.716561
type: Concept

Connexins
MeSH DescriptorUI: D017630
MeSH semantic group name: Chemicals & Drugs
number of authors: 136
number of publications: 372
uniqueness weight: 0.834996
type: Concept

DNA Copy Number Variations
MeSH DescriptorUI: D056915
MeSH semantic group name: Physiology
number of authors: 861
number of publications: 2146
uniqueness weight: 0.520062
type: Concept

Hemolysis
MeSH DescriptorUI: D006461
MeSH semantic group name: Disorders
number of authors: 258
number of publications: 401
uniqueness weight: 0.839026
type: Concept

Authorship 1146911
type: Authorship
author rank in publication: 20
linked author: Amr, Sami
linked information resource: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
PubMed Identifier: 30894701
author list: DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247.
journal title abbreviation: Genet Med
publication date: 2019-03-21T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Hearing Loss
MeSH DescriptorUI: D034381
MeSH semantic group name: Disorders
number of authors: 345
number of publications: 839
uniqueness weight: 0.56768
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Medicine
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Pathology
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Pediatrics
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Rheumatology
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Genetics
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Channing Division of Network Medicine
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Brigham and Women's Hospital
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Boston Children's Hospital
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Massachusetts General Hospital
type: Organization

Weiss, Scott
eCommons Login: STW1
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has faculty rank: Full Professor
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Mitchell, Richard
eCommons Login: RNM1
first name: Richard
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Authorship 1156017
type: Authorship
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linked author: Amr, Sami
linked information resource: Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
PubMed Identifier: 31114025
author list: DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct; 21(10):2409.
journal title abbreviation: Genet Med
publication date: 2019-10-01T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Giersch, Anne
eCommons Login: ABS4
first name: Anne
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Pan, Li
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Garcia-Cardena, Guillermo
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Rehm, Heidi
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Kenna, Margaret
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person in primary position: Professor of Otolaryngology Head and Neck Surgery
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Watts, Gerald
eCommons Login: GW42
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person in primary position: Research Associate in Medicine
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Kho, Alvin
eCommons Login: ATK1
first name: Alvin
last name: Kho
full name: Alvin Thong-Juak Kho, Ph.D.
has faculty rank: Assistant Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 56065
person in primary position: Assistant Professor of Pediatrics
type: Agent
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preferred title: Assistant Professor of Pediatrics

Authorship 1158822
type: Authorship
author rank in publication: 38
linked author: Amr, Sami
linked information resource: Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
PubMed Identifier: 31160754
author list: Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genet Med. 2019 11; 21(11):2442-2452.
journal title abbreviation: Genet Med
publication date: 2019-06-04T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Alkuraya, Fowzan
eCommons Login: FSA2
first name: Fowzan
last name: Alkuraya
full name: Fowzan Sami Alkuraya, M.B.,B.S.
has faculty rank: Instructor
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person in primary position: Instructor in Pediatrics
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McGeachie, Michael
eCommons Login: MJM28
first name: Michael
last name: McGeachie
full name: Michael John McGeachie, Ph.D.
has faculty rank: Assistant Professor
latitude: 42.33669100000000
longitude: -71.10208900000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
Person ID: 40902
person in primary position: Assistant Professor of Medicine
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preferred title: Assistant Professor of Medicine

Lebo, Matthew
eCommons Login: ML210
first name: Matthew
last name: Lebo
full name: Matthew Lebo, Ph.D.
has faculty rank: Associate Professor
latitude: 42.36070000000000
longitude: -71.10090000000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
Person ID: 68284
person in primary position: Associate Professor of Pathology
type: Agent
type: Person
preferred title: Associate Professor of Pathology

Feany, Mel
eCommons Login: MBF1
first name: Mel
last name: Feany
full name: Mel B. Feany, M.D., Ph.D.
has faculty rank: Full Professor
latitude: 42.33837200000000
longitude: -71.10326900000000
Person ID: 44560
person in primary position: Professor of Pathology
type: Agent
type: Person
preferred title: Professor of Pathology

Authorship 1198968
type: Authorship
author rank in publication: 7
linked author: Amr, Sami
linked information resource: Sex-Dependent Changes in miRNA Expression in the Bed Nucleus of the Stria Terminalis Following Stress.

Sex-Dependent Changes in miRNA Expression in the Bed Nucleus of the Stria Terminalis Following Stress.
PubMed Identifier: 31636537
author list: Mavrikaki M, Pantano L, Potter D, Rogers-Grazado MA, Anastasiadou E, Slack FJ, Amr SS, Ressler KJ, Daskalakis NP, Chartoff E
published in: Frontiers in molecular neuroscience
information resource reference: Sex-Dependent Changes in miRNA Expression in the Bed Nucleus of the Stria Terminalis Following Stress. Front Mol Neurosci. 2019; 12:236.
journal title abbreviation: Front Mol Neurosci
publication date: 2019-10-04T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Assistant Professor of Pathology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Pathology
position in organization: Brigham and Women's Hospital

Associate Professor of Pathology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Associate Professor of Pathology
position in organization: Brigham and Women's Hospital

Professor of Pathology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Pathology
position in organization: Brigham and Women's Hospital

Authorship 1232296
type: Authorship
author rank in publication: 6
linked author: Amr, Sami
linked information resource: COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis.

COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis.
PubMed Identifier: 32165660
author list: Li J, Kho AT, Chase RP, Pantano L, Farnam L, Amr SS, Tantisira KG
published in: Scientific reports
information resource reference: COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis. Sci Rep. 2020 03 12; 10(1):4552.
journal title abbreviation: Sci Rep
publication date: 2020-03-12T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1243201
type: Authorship
author rank in publication: 7
linked author: Amr, Sami
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/151798059

https://connects.catalyst.harvard.edu/Profiles/profile/151798059
PubMed Identifier: 32347951
author list: Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV
published in: JAMA network open
information resource reference: Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open. 2020 04 01; 3(4):e203959.
journal title abbreviation: JAMA Netw Open
publication date: 2020-04-01T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
PubMed Identifier: 33281559
author list: Parzefall T, Frohne A, Koenighofer M, Neesen J, Laccone F, Eckl-Dorna J, Waters JJ, Schreiner M, Amr SS, Ashton E, Schoefer C, Gstœttner W, Frei K, Lucas T
published in: Frontiers in cellular neuroscience
information resource reference: A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation. Front Cell Neurosci. 2020; 14:585669.
journal title abbreviation: Front Cell Neurosci
publication date: 2020-11-12T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1313378
type: Authorship
author rank in publication: 9
linked author: Amr, Sami
linked information resource: A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Authorship 1323763
type: Authorship
author rank in publication: 4
linked author: Amr, Sami
linked information resource: Gastric Plexiform Fibromyxoma Arising in the Cardia in an Adolescent Male: A Rare Tumor with an Unusual Location.

Gastric Plexiform Fibromyxoma Arising in the Cardia in an Adolescent Male: A Rare Tumor with an Unusual Location.
PubMed Identifier: 33489405
author list: Nasralla A, Alwabari M, Alsaif O, Amr SS
published in: Case reports in surgery
information resource reference: Gastric Plexiform Fibromyxoma Arising in the Cardia in an Adolescent Male: A Rare Tumor with an Unusual Location. Case Rep Surg. 2020; 2020:9037960.
journal title abbreviation: Case Rep Surg
publication date: 2020-11-05T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1344796
type: Authorship
author rank in publication: 2
linked author: Amr, Sami
linked information resource: Malignant Glandular Triton Tumor Arising in the Radial Nerve with Prolonged Survival: A Case Report and Review of the Literature.

Malignant Glandular Triton Tumor Arising in the Radial Nerve with Prolonged Survival: A Case Report and Review of the Literature.
PubMed Identifier: 33791136
author list: AlAli BM, Amr SS
published in: Case reports in pathology
information resource reference: Malignant Glandular Triton Tumor Arising in the Radial Nerve with Prolonged Survival: A Case Report and Review of the Literature. Case Rep Pathol. 2021; 2021:4614185.
journal title abbreviation: Case Rep Pathol
publication date: 2021-03-18T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1348994
type: Authorship
author rank in publication: 15
linked author: Amr, Sami
linked information resource: Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort.

Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort.
PubMed Identifier: 33872788
author list: LaBelle J, Bowser M, Brown A, Farnam L, Kho A, Li J, McGeachie M, Chase R, Piehl S, Allen K, Hobbs BD, Weiss ST, Hersh C, Tantisira K, Amr SS
published in: The Journal of molecular diagnostics : JMD
information resource reference: Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort. J Mol Diagn. 2021 06; 23(6):671-682.
journal title abbreviation: J Mol Diagn
publication date: 2021-04-17T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1353230
type: Authorship
author rank in publication: 30
linked author: Amr, Sami
linked information resource: Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.
PubMed Identifier: 33958783
author list: Liu G, Peng J, Liao Z, Locascio JJ, Corvol JC, Zhu F, Dong X, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Mangone G, Growdon JH, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Herrington TM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, Amr SS, van Hilten JJ, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker RA, Williams-Gray CH, Marinus J, Scherzer CR
published in: Nature genetics
information resource reference: Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease. Nat Genet. 2021 06; 53(6):787-793.
journal title abbreviation: Nat Genet
publication date: 2021-05-06T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1372548
type: Authorship
author rank in publication: 22
linked author: Amr, Sami
linked information resource: Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
PubMed Identifier: 34230634
author list: Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med. 2021 11; 23(11):2208-2212.
journal title abbreviation: Genet Med
publication date: 2021-07-06T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1398049
type: Authorship
author rank in publication: 5
linked author: Amr, Sami
linked information resource: Lung function, airway and peripheral basophils and eosinophils are associated with molecular pharmacogenomic endotypes of steroid response in severe asthma.

Lung function, airway and peripheral basophils and eosinophils are associated with molecular pharmacogenomic endotypes of steroid response in severe asthma.
PubMed Identifier: 34580195
author list: Kho AT, McGeachie MJ, Li J, Chase RP, Amr SS, Hastie AT, Hawkins GA, Li X, Chupp GL, Meyers DA, Bleecker ER, Weiss ST, Tantisira KG
published in: Thorax
information resource reference: Lung function, airway and peripheral basophils and eosinophils are associated with molecular pharmacogenomic endotypes of steroid response in severe asthma. Thorax. 2022 05; 77(5):452-460.
journal title abbreviation: Thorax
publication date: 2021-09-27T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Automated Pharmacogenomic Reports for Clinical Genome Sequencing.
PubMed Identifier: 35041930
author list: Klanderman BJ, Koch C, Machini K, Parpattedar SS, Bandyadka S, Lin CF, Hynes E, Lebo MS, Amr SS
published in: The Journal of molecular diagnostics : JMD
information resource reference: Automated Pharmacogenomic Reports for Clinical Genome Sequencing. J Mol Diagn. 2022 03; 24(3):205-218.
journal title abbreviation: J Mol Diagn
publication date: 2022-01-15T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Snakebites in Jordan: A clinical and epidemiological study.
PubMed Identifier: 35026216
author list: Abu Baker MA, Al-Saraireh M, Amr Z, Amr SS, Warrell DA
published in: Toxicon : official journal of the International Society on Toxinology
information resource reference: Snakebites in Jordan: A clinical and epidemiological study. Toxicon. 2022 Mar; 208:18-30.
journal title abbreviation: Toxicon
publication date: 2022-01-10T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1426235
type: Authorship
author rank in publication: 4
linked author: Amr, Sami
linked information resource: Snakebites in Jordan: A clinical and epidemiological study.

Authorship 1426539
type: Authorship
author rank in publication: 9
linked author: Amr, Sami
linked information resource: Automated Pharmacogenomic Reports for Clinical Genome Sequencing.

Authorship 1437954
type: Authorship
author rank in publication: 8
linked author: Amr, Sami
linked information resource: Soft Tissue Sarcomas: A 16-Year Experience of a Tertiary Referral Hospital in North Jordan.

Soft Tissue Sarcomas: A 16-Year Experience of a Tertiary Referral Hospital in North Jordan.
PubMed Identifier: 35208522
author list: Alorjani MS, Matalka II, Alfaqih MA, Jahmani RA, Alsinglawi BS, Nimri FM, Matalka MI, Amr SS
published in: Medicina (Kaunas, Lithuania)
information resource reference: Soft Tissue Sarcomas: A 16-Year Experience of a Tertiary Referral Hospital in North Jordan. Medicina (Kaunas). 2022 Jan 27; 58(2).
journal title abbreviation: Medicina (Kaunas)
publication date: 2022-01-27T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1448658
type: Authorship
author rank in publication: 5
linked author: Amr, Sami
linked information resource: Blood miRNAs Are Linked to Frequent Asthma Exacerbations in Childhood Asthma and Adult COPD.

Blood miRNAs Are Linked to Frequent Asthma Exacerbations in Childhood Asthma and Adult COPD.
PubMed Identifier: 35447890
author list: Tiwari A, Hobbs BD, Li J, Kho AT, Amr S, Celedón JC, Weiss ST, Hersh CP, Tantisira KG, McGeachie MJ
published in: Non-coding RNA
information resource reference: Blood miRNAs Are Linked to Frequent Asthma Exacerbations in Childhood Asthma and Adult COPD. Noncoding RNA. 2022 Apr 03; 8(2).
journal title abbreviation: Noncoding RNA
publication date: 2022-04-03T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Research Associate in Pathology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Research Associate in Pathology
position in organization: Brigham and Women's Hospital

Authorship 1466555
type: Authorship
author rank in publication: 16
linked author: Amr, Sami
linked information resource: Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
PubMed Identifier: 35870179
author list: Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M
published in: Human mutation
information resource reference: Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Hum Mutat. 2022 12; 43(12):1837-1843.
journal title abbreviation: Hum Mutat
publication date: 2022-08-02T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1506210
type: Authorship
author rank in publication: 3
linked author: Amr, Sami
linked information resource: Giant Ectopic Parathyroid Adenoma Arising in the Posterior Mediastinum. Report of Case and a Review.

Giant Ectopic Parathyroid Adenoma Arising in the Posterior Mediastinum. Report of Case and a Review.
PubMed Identifier: 36407056
author list: Amr YS, Saleh MM, Amr SS
published in: Case reports in surgery
information resource reference: Giant Ectopic Parathyroid Adenoma Arising in the Posterior Mediastinum. Report of Case and a Review. Case Rep Surg. 2022; 2022:6473197.
journal title abbreviation: Case Rep Surg
publication date: 2022-11-09T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1525012
type: Authorship
author rank in publication: 3
linked author: Amr, Sami
linked information resource: Perivascular Epithelioid Cell Tumor (PEComa) of the Pancreas in a Patient with Ulcerative Colitis: A Case Report and Review of the Literature.

Perivascular Epithelioid Cell Tumor (PEComa) of the Pancreas in a Patient with Ulcerative Colitis: A Case Report and Review of the Literature.
PubMed Identifier: 36833081
author list: Almousa MA, Alnashwan YA, Amr SS
published in: Healthcare (Basel, Switzerland)
information resource reference: Perivascular Epithelioid Cell Tumor (PEComa) of the Pancreas in a Patient with Ulcerative Colitis: A Case Report and Review of the Literature. Healthcare (Basel). 2023 Feb 12; 11(4).
journal title abbreviation: Healthcare (Basel)
publication date: 2023-02-12T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

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 1563743
type: Authorship
author rank in publication: 8
linked author: Amr, Sami
linked information resource: Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.

Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.
PubMed Identifier: 37186683
author list: Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SS, Lebo MS, Nagy A, Peloso GM, Natarajan P, Rotter JI, Willer C, Boerwinkle E, Ballantyne CM, Lutsey PL, Fornage M, Lloyd-Jones DM, Hou L, Psaty BM, Bis JC, Floyd JS, Vasan RS, Heard-Costa NL, Carson AP, Hall ME, Rich SS, Guo X, Kazi DS, de Ferranti SD, Moran AE
published in: Circulation
information resource reference: Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease. Circulation. 2023 05 16; 147(20):1556-1559.
journal title abbreviation: Circulation
publication date: 2023-05-15T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1611608
type: Authorship
author rank in publication: 8
linked author: Amr, Sami
linked information resource: Massive Localized Lymphedema: Two Case Studies and Diagnostic Challenges.

Massive Localized Lymphedema: Two Case Studies and Diagnostic Challenges.
PubMed Identifier: 38021692
author list: Ba-Shammakh SA, Haj-Freej HM, Al-Naggar YS, Ghanem W, Haij MZ, Al-Mohd F, Hijazi E, Amr SS
published in: Cureus
information resource reference: Massive Localized Lymphedema: Two Case Studies and Diagnostic Challenges. Cureus. 2023 Oct; 15(10):e47092.
journal title abbreviation: Cureus
publication date: 2023-10-16T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1626303
type: Authorship
author rank in publication: 8
linked author: Amr, Sami
linked information resource: Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.

Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
PubMed Identifier: 38294787
author list: Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SS, Lebo MS, Nagy A, Peloso GM, Natarajan P, Rotter JI, Willer C, Boerwinkle E, Ballantyne CM, Lutsey PL, Fornage M, Lloyd-Jones DM, Hou L, Psaty BM, Bis JC, Floyd JS, Vasan RS, Heard-Costa NL, Carson AP, Hall ME, Rich SS, Guo X, Kazi DS, de Ferranti SD, Moran AE
published in: JAMA cardiology
information resource reference: Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol. JAMA Cardiol. 2024 Mar 01; 9(3):263-271.
journal title abbreviation: JAMA Cardiol
publication date: 2024-03-01T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Professor of Pathology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Pathology
position in organization: Massachusetts General Hospital

Professor of Pathology and Health Sciences and Technology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Pathology and Health Sciences and Technology
position in organization: Brigham and Women's Hospital

Associate Professor of Pathology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Associate Professor of Pathology
position in organization: Brigham and Women's Hospital

Assistant Professor of Pathology
is primary position: true
position in department: Pathology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Pathology
position in organization: Brigham and Women's Hospital

Research Associate in Medicine
is primary position: true
position in department: Medicine
position in division: Rheumatology
sort order: 1
type: Position
HR job title: Research Associate in Medicine
position in organization: Brigham and Women's Hospital

Assistant Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Channing Division of Network Medicine
sort order: 1
type: Position
HR job title: Assistant Professor of Medicine
position in organization: Brigham and Women's Hospital

Authorship 1701965
type: Authorship
author rank in publication: 9
linked author: Amr, Sami
linked information resource: ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
PubMed Identifier: 39401966
author list: Almontashiri NAM, Alharby E, Saleh M, Abu-Farha M, Alasmari A, Gebbia M, Hiesl C, Peake RWA, Amr SS, Boles E, Roth FP, Abubaker J
published in: Clinical genetics
information resource reference: ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder. Clin Genet. 2025 Feb; 107(2):201-207.
journal title abbreviation: Clin Genet
publication date: 2024-10-14T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1734243
type: Authorship
author rank in publication: 6
linked author: Amr, Sami
linked information resource: Perforin-2 is overexpressed in Kikuchi-Fujimoto disease.

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
PubMed Identifier: 39987489
author list: Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time. Genet Med. 2025 May; 27(5):101392.
journal title abbreviation: Genet Med
publication date: 2025-02-19T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Perforin-2 is overexpressed in Kikuchi-Fujimoto disease.
PubMed Identifier: 39915303
author list: Lyapichev KA, Medeiros LJ, Sukswai N, Ng SB, Sheikh SS, Amr S, Shembade ND, Khoury JD
published in: Virchows Archiv : an international journal of pathology
information resource reference: Perforin-2 is overexpressed in Kikuchi-Fujimoto disease. Virchows Arch. 2025 Sep; 487(3):535-541.
journal title abbreviation: Virchows Arch
publication date: 2025-02-07T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 697245
type: Authorship
author rank in publication: 2
linked author: Amr, Sami
linked information resource: SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.

Authorship 697246
type: Authorship
author rank in publication: 1
linked author: Amr, Sami
linked information resource: A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
PubMed Identifier: 17846994
author list: Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R
published in: American journal of human genetics
information resource reference: A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007 Oct; 81(4):673-83.
journal title abbreviation: Am J Hum Genet
publication date: 2007-08-20T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
PubMed Identifier: 24019301
author list: An Y, Amr SS, Torres A, Weissman L, Raffalli P, Cox G, Sheng X, Lip V, Bi W, Patel A, Stankiewicz P, Wu BL, Shen Y
published in: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
information resource reference: SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162B(8):832-40.
journal title abbreviation: Am J Med Genet B Neuropsychiatr Genet
publication date: 2013-09-06T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 729476
type: Authorship
author rank in publication: 2
linked author: Amr, Sami
linked information resource: Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.
PubMed Identifier: 24705017
author list: Jones MA, Amr S, Ferebee A, Huynh P, Rosenfeld JA, Miles MF, Davies AG, Korey CA, Warrick JM, Shiang R, Elsea SH, Girirajan S, Grotewiel M
published in: Biology open
information resource reference: Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. Biol Open. 2014 Apr 04; 3(5):342-52.
journal title abbreviation: Biol Open
publication date: 2014-04-04T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1771874
type: Authorship
author rank in publication: 43
linked author: Amr, Sami
linked information resource: ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

General Pediatrics
type: Division
type: Organization

Mary Ellen Avery Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: General Pediatrics
sort order: 1
type: Position
HR job title: Mary Ellen Avery Professor of Pediatrics
position in organization: Boston Children's Hospital

Assistant Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Informatics
sort order: 1
type: Position
HR job title: Assistant Professor of Pediatrics
position in organization: Boston Children's Hospital

Professor of Otolaryngology Head and Neck Surgery
is primary position: true
position in department: Otolaryngology Head and Neck Surgery
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Otolaryngology Head and Neck Surgery
position in organization: Boston Children's Hospital

Instructor in Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Genetics
sort order: 1
type: Position
HR job title: Instructor in Pediatrics
position in organization: Boston Children's Hospital

Professor of Medicine
is primary position: true
position in department: Medicine
position in division: Channing Division of Network Medicine
sort order: 1
type: Position
HR job title: Professor of Medicine
position in organization: Brigham and Women's Hospital

Authorship 757049
type: Authorship
author rank in publication: 2
linked author: Amr, Sami
linked information resource: Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
PubMed Identifier: 25157971
author list: Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH
published in: The Journal of molecular diagnostics : JMD
information resource reference: Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. J Mol Diagn. 2014 Nov; 16(6):639-47.
journal title abbreviation: J Mol Diagn
publication date: 2014-08-23T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Informatics
type: Division
type: Organization

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
PubMed Identifier: 26444186
author list: Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS
published in: Human mutation
information resource reference: Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. Hum Mutat. 2016 Jan; 37(1):119-26.
journal title abbreviation: Hum Mutat
publication date: 2015-10-29T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 841764
type: Authorship
author rank in publication: 9
linked author: Amr, Sami
linked information resource: Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Authorship 841765
type: Authorship
author rank in publication: 3
linked author: Amr, Sami
linked information resource: Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.

Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.
PubMed Identifier: 26496673
author list: Nadol JB, Handzel O, Amr S
published in: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
information resource reference: Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5. Otol Neurotol. 2015 Dec; 36(10):1616-21.
journal title abbreviation: Otol Neurotol
publication date: 2015-12-01T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 856968
type: Authorship
author rank in publication: 8
linked author: Amr, Sami
linked information resource: Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Authorship 856969
type: Authorship
author rank in publication: 2
linked author: Amr, Sami
linked information resource: VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.
PubMed Identifier: 26681316
author list: Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genet Med. 2016 07; 18(7):712-9.
journal title abbreviation: Genet Med
publication date: 2015-12-17T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.
PubMed Identifier: 26562227
author list: Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med. 2016 06; 18(6):545-53.
journal title abbreviation: Genet Med
publication date: 2015-11-12T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 867642
type: Authorship
author rank in publication: 4
linked author: Amr, Sami
linked information resource: The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.

The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.
PubMed Identifier: 26927185
author list: Blau A, Brown A, Mahanta L, Amr SS
published in: Journal of personalized medicine
information resource reference: The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine. J Pers Med. 2016 Feb 26; 6(1).
journal title abbreviation: J Pers Med
publication date: 2016-02-26T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 876631
type: Authorship
author rank in publication: 8
linked author: Amr, Sami
linked information resource: Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Authorship 877022
type: Authorship
author rank in publication: 3
linked author: Amr, Sami
linked information resource: HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay.

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
PubMed Identifier: 27066507
author list: Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH
published in: Molecular genetics & genomic medicine
information resource reference: Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies. Mol Genet Genomic Med. 2016 Mar; 4(2):143-51.
journal title abbreviation: Mol Genet Genomic Med
publication date: 2015-12-16T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay.
PubMed Identifier: 26912621
author list: Sunshine S, Kirchner R, Amr SS, Mansur L, Shakhbatyan R, Kim M, Bosque A, Siliciano RF, Planelles V, Hofmann O, Ho Sui S, Li JZ
published in: Journal of virology
information resource reference: HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay. J Virol. 2016 May; 90(9):4511-4519.
journal title abbreviation: J Virol
publication date: 2016-04-14T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Assistant Professor
sort order: 2
type: Faculty Rank

Associate Professor
sort order: 1
type: Faculty Rank

Full Professor
sort order: 0
type: Faculty Rank

Instructor
sort order: 4
type: Faculty Rank

Other Faculty
sort order: 5
type: Faculty Rank

Authorship 945930
type: Authorship
author rank in publication: 16
linked author: Amr, Sami
linked information resource: Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss.

Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss.
PubMed Identifier: 27662439
author list: Basaria S, Jasuja R, Huang G, Wharton W, Pan H, Pencina K, Li Z, Travison TG, Bhawan J, Gonthier R, Labrie F, Dury AY, Serra C, Papazian A, O'Leary M, Amr S, Storer TW, Stern E, Bhasin S
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss. J Clin Endocrinol Metab. 2016 12; 101(12):4669-4680.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2016-09-23T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 965478
type: Authorship
author rank in publication: 1
linked author: Amr, Sami
linked information resource: Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.
PubMed Identifier: 27657688
author list: Amr SS, Al Turki SH, Lebo M, Sarmady M, Rehm HL, Abou Tayoun AN
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation. Genet Med. 2017 05; 19(5):496-504.
journal title abbreviation: Genet Med
publication date: 2016-09-22T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

65 Landsdowne St
type: Address
address line 1: Partners Research Building
address line 3: 65 Landsdowne St
city: Cambridge
postal code: 02139
state or province: MA

Authorship 1017544
type: Authorship
author rank in publication: 8
linked author: Amr, Sami
linked information resource: Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Authorship 1017545
type: Authorship
author rank in publication: 9
linked author: Amr, Sami
linked information resource: Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.

Authorship 1017547
type: Authorship
linked author: Amr, Sami
linked information resource: Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans

Authorship 1017548
type: Authorship
linked author: Amr, Sami
linked information resource: Clinical Genomics Edited by:Shashikant Kulkarni and John Pfeifer

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
PubMed Identifier: 29048421
author list: Almontashiri NAM, Alswaid A, Oza A, Al-Mazrou KA, Elrehim O, Tayoun AA, Rehm HL, Amr SS
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. Genet Med. 2018 04; 20(5):536-544.
journal title abbreviation: Genet Med
publication date: 2017-10-19T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
PubMed Identifier: 28649516
author list: Azab B, Dardas Z, Hamarsheh M, Alsalem M, Kilani Z, Kilani F, Awidi A, Jafar H, Amr S
published in: Molecular genetics and metabolism reports
information resource reference: Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree. Mol Genet Metab Rep. 2017 Sep; 12:76-79.
journal title abbreviation: Mol Genet Metab Rep
publication date: 2017-06-09T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical Genomics Edited by:Shashikant Kulkarni and John Pfeifer
author list: Sami S. Amr, Birgit Funke
published in: Chapter 16 - Targeted Hybrid Capture for Inherited Disease Panels,
information resource reference: Clinical Genomics Edited by:Shashikant Kulkarni and John Pfeifer. Chapter 16 - Targeted Hybrid Capture for Inherited Disease Panels,. 2014; 1(1):251-269.
publication date: 2014-11-14T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans
author list: Juan J. Carmona, William P. Accomando Jr., Alexandra M. Binder, John N. Hutchinson, Lorena Pantano, Benedetta Izzi, Allan C. Just, Xihong Lin, Joel Schwartz, Pantel S. Vokonas, Sami S. Amr, Andrea A. Baccarelli & Karin B. Michels
published in: npj Genomic Medicine
information resource reference: Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans. npj Genomic Medicine. 2017; 13(2):online.
publication date: 2017-04-19T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1018454
type: Authorship
author rank in publication: 1
linked author: Amr, Sami
linked information resource: Low levels of apolipoprotein A1 are not contributors to the low lecithin-cholesterol acyl transferase activity in premature newborn infants.

Authorship 1020585
type: Authorship
author rank in publication: 2
linked author: Amr, Sami
linked information resource: Intramuscular myxoma.

Authorship 1018455
type: Authorship
author rank in publication: 5
linked author: Amr, Sami
linked information resource: Ketamine hydrochloride as sole anesthetic for open liver biopsy.

Low levels of apolipoprotein A1 are not contributors to the low lecithin-cholesterol acyl transferase activity in premature newborn infants.
PubMed Identifier: 3186331
author list: Amr S, Chowdhry P, Hamosh P, Hamosh M
published in: Pediatric research
information resource reference: Low levels of apolipoprotein A1 are not contributors to the low lecithin-cholesterol acyl transferase activity in premature newborn infants. Pediatr Res. 1988 Aug; 24(2):191-3.
journal title abbreviation: Pediatr Res
publication date: 1988-08-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Ketamine hydrochloride as sole anesthetic for open liver biopsy.
PubMed Identifier: 3211082
author list: Abu Khalaf A, Takrouri M, Toukan A, Abu Khalaf M, Amr S
published in: Middle East journal of anaesthesiology
information resource reference: Ketamine hydrochloride as sole anesthetic for open liver biopsy. Middle East J Anaesthesiol. 1988 Oct; 9(6):537-43.
journal title abbreviation: Middle East J Anaesthesiol
publication date: 1988-10-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Intramuscular myxoma.
PubMed Identifier: 3069040
author list: Jaser NA, Amr SS
published in: Annales chirurgiae et gynaecologiae
information resource reference: Intramuscular myxoma. Ann Chir Gynaecol. 1988; 77(2):78-80.
journal title abbreviation: Ann Chir Gynaecol
publication date: 1988-01-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1034091
type: Authorship
author rank in publication: 11
linked author: Amr, Sami
linked information resource: Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.

Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.
PubMed Identifier: 29263828
author list: Carmona JJ, Accomando WP, Binder AM, Hutchinson JN, Pantano L, Izzi B, Just AC, Lin X, Schwartz J, Vokonas PS, Amr SS, Baccarelli AA, Michels KB
published in: NPJ genomic medicine
information resource reference: Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans. NPJ Genom Med. 2017; 2:13.
journal title abbreviation: NPJ Genom Med
publication date: 2017-04-19T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1038527
type: Authorship
author rank in publication: 1
linked author: Amr, Sami
linked information resource: Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.
PubMed Identifier: 29339441
author list: Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN
published in: Clinical chemistry
information resource reference: Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin. Clin Chem. 2018 04; 64(4):705-714.
journal title abbreviation: Clin Chem
publication date: 2018-01-16T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource