Publications:

Exome-based investigation of the genetic basis of human pigmentary glaucoma.

Bmc Genomics

van der Heide, Carly C; Goar, Wes W; Meyer, Kacie J KJ; Alward, Wallace L M WLM; Boese, Erin A EA; Sears, Nathan C NC; Roos, Ben R BR; Kwon, Young H YH; DeLuca, Adam P AP; Siggs, Owen M OM; Gonzaga-Jauregui, Claudia C; Sheffield, Val C VC; Wang, Kai K; Stone, Edwin M EM; Mullins, Robert F RF; Anderson, Michael G MG; Fan, Bao Jian BJ; Ritch, Robert R; Craig, Jamie E JE; Wiggs, Janey L JL; Scheetz, Todd E TE; Fingert, John H JH

Publication Date: 2021-06-26

Variant appearance in text: GPNMB: 310_323delAGATGCCAAAAGGA

PubMed Link: 34174832

Variant Present in the following documents:

• Main text

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GPNMB: 319_332delAAGGAAGATGCCAA

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: GPNMB: 319_332delAAGGAAGATGCCAA

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: GPNMB: 319_332delAAGGAAGATGCCAA; Lys107fs

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page