Publications:

A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: E518K

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs369860406

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Bmc Ophthalmology

Wang, Xinjing X; Zein, Wadih M WM; D'Souza, Leera L; Roberson, Chimere C; Wetherby, Keith K; He, Hong H; Villarta, Angela A; Turriff, Amy A; Johnson, Kory R KR; Fann, Yang C YC

Publication Date: 2017-08-24

Variant appearance in text: ABCA4: 1552G>A; E518K

PubMed Link: 28838317

Variant Present in the following documents:

• 12886_2017_549_MOESM3_ESM.pdf

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Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

American Journal Of Human Genetics

Leslie, Elizabeth J EJ; Taub, Margaret A MA; Liu, Huan H; Steinberg, Karyn Meltz KM; Koboldt, Daniel C DC; Zhang, Qunyuan Q; Carlson, Jenna C JC; Hetmanski, Jacqueline B JB; Wang, Hang H; Larson, David E DE; Fulton, Robert S RS; Kousa, Youssef A YA; Fakhouri, Walid D WD; Naji, Ali A; Ruczinski, Ingo I; Begum, Ferdouse F; Parker, Margaret M MM; Busch, Tamara T; Standley, Jennifer J; Rigdon, Jennifer J; Hecht, Jacqueline T JT; Scott, Alan F AF; Wehby, George L GL; Christensen, Kaare K; Czeizel, Andrew E AE; Deleyiannis, Frederic W-B FW; Schutte, Brian C BC; Wilson, Richard K RK; Cornell, Robert A RA; Lidral, Andrew C AC; Weinstock, George M GM; Beaty, Terri H TH; Marazita, Mary L ML; Murray, Jeffrey C JC

Publication Date: 2015-03-05

Variant appearance in text: rs369860406

PubMed Link: 25704602

Variant Present in the following documents:

• Main text

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