Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: TUBB1: Q43Q

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: N/A

PubMed Link: 36075891

Variant Present in the following documents:

View BVdb publication page

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Resistance to paclitaxel is associated with a variant of the gene BCL2 in multiple tumor types.

Npj Precision Oncology

Ben-Hamo, Rotem R; Zilberberg, Alona A; Cohen, Helit H; Bahar-Shany, Keren K; Wachtel, Chaim C; Korach, Jacob J; Aviel-Ronen, Sarit S; Barshack, Iris I; Barash, Danny D; Levanon, Keren K; Efroni, Sol S

Publication Date: 2019

Variant appearance in text: rs415064

PubMed Link: 31044156

Variant Present in the following documents:

• 41698_2019_Article_84.pdf

View BVdb publication page

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Interrogation of human hematopoiesis at single-cell and single-variant resolution.

Nature Genetics

Ulirsch, Jacob C JC; Lareau, Caleb A CA; Bao, Erik L EL; Ludwig, Leif S LS; Guo, Michael H MH; Benner, Christian C; Satpathy, Ansuman T AT; Kartha, Vinay K VK; Salem, Rany M RM; Hirschhorn, Joel N JN; Finucane, Hilary K HK; Aryee, Martin J MJ; Buenrostro, Jason D JD; Sankaran, Vijay G VG

Publication Date: 2019-04

Variant appearance in text: rs415064

PubMed Link: 30858613

Variant Present in the following documents:

• Main text
• nihms-1519831.pdf

View BVdb publication page

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Genetic Polymorphisms Associated with Spontaneous Intracerebral Hemorrhage.

International Journal Of Molecular Sciences

Chen, Yi-Chun YC; Chang, Kuo-Hsuan KH; Chen, Chiung-Mei CM

Publication Date: 2018-12-04

Variant appearance in text: rs415064

PubMed Link: 30518145

Variant Present in the following documents:

• Main text
• ijms-19-03879.pdf

View BVdb publication page

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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: rs415064

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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High-throughput allele-specific expression across 250 environmental conditions.

Genome Research

Moyerbrailean, Gregory A GA; Richards, Allison L AL; Kurtz, Daniel D; Kalita, Cynthia A CA; Davis, Gordon O GO; Harvey, Chris T CT; Alazizi, Adnan A; Watza, Donovan D; Sorokin, Yoram Y; Hauff, Nancy N; Zhou, Xiang X; Wen, Xiaoquan X; Pique-Regi, Roger R; Luca, Francesca F

Publication Date: 2016-12

Variant appearance in text: rs415064

PubMed Link: 27934696

Variant Present in the following documents:

• supp_gr.209759.116_Supplemental_Materials.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs415064

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: rs415064

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics

Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G

Publication Date: 2014-06

Variant appearance in text: rs415064

PubMed Link: 24777453

Variant Present in the following documents:

• NIHMS581495-supplement-1.pdf

View BVdb publication page

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