Publications:

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Plos Genetics

Biswas, Pooja P; Villanueva, Adda L AL; Soto-Hermida, Angel A; Duncan, Jacque L JL; Matsui, Hiroko H; Borooah, Shyamanga S; Kurmanov, Berzhan B; Richard, Gabriele G; Khan, Shahid Y SY; Branham, Kari K; Huang, Bonnie B; Suk, John J; Bakall, Benjamin B; Goldberg, Jeffrey L JL; Gabriel, Luis L; Khan, Naheed W NW; Raghavendra, Pongali B PB; Zhou, Jason J; Devalaraja, Sindhu S; Huynh, Andrew A; Alapati, Akhila A; Zawaydeh, Qais Q; Weleber, Richard G RG; Heckenlively, John R JR; Hejtmancik, J Fielding JF; Riazuddin, Sheikh S; Sieving, Paul A PA; Riazuddin, S Amer SA; Frazer, Kelly A KA; Ayyagari, Radha R

Publication Date: 2021-10

Variant appearance in text: USH2A: 12067-2A>G; rs397517978

PubMed Link: 34662339

Variant Present in the following documents:

• Main text
• pgen.1009848.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: USH2A: 12067-2A>G; rs397517978

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: USH2A: 12067-2A>G; rs397517978

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

View BVdb publication page