Publications:

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: ABCA4: 5640T>A; Phe1880Leu; rs374811709

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 3

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Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Cold Spring Harbor Molecular Case Studies

Scott, Hilary A HA; Place, Emily M EM; Ferenchak, Kevin K; Zampaglione, Erin E; Wagner, Naomi E NE; Chao, Katherine R KR; DiTroia, Stephanie P SP; Navarro-Gomez, Daniel D; Mukai, Shizuo S; Huckfeldt, Rachel M RM; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-02

Variant appearance in text: ABCA4: 5640T>A; Phe1880Leu

PubMed Link: 32014858

Variant Present in the following documents:

• Main text
• supp_mcs.a004754_Supplemental_Material.pdf
• MCS004754Sco.pdf

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Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Psychiatry And Clinical Neurosciences

Ganesh, Suhas S; Ahmed P, Husayn H; Nadella, Ravi K RK; More, Ravi P RP; Seshadri, Manasa M; Viswanath, Biju B; Rao, Mahendra M; Jain, Sanjeev S; , ; Mukherjee, Odity O

Publication Date: 2019-01

Variant appearance in text: ABCA4: F1880L; rs374811709

PubMed Link: 30367527

Variant Present in the following documents:

• PCN-73-11-s002.xlsx, sheet 2

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: ABCA4: 5640T>A; Phe1880Leu; rs374811709

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page