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: rs887199

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_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: rs887199

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs887199

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ARVCF: 1961-193T>C; rs887199

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs887199

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Effect of catechol-o-methyltransferase-gene (COMT) variants on experimental and acute postoperative pain in 1,000 women undergoing surgery for breast cancer.

Anesthesiology

Kambur, Oleg O; Kaunisto, Mari A MA; Tikkanen, Emmi E; Leal, Suzanne M SM; Ripatti, Samuli S; Kalso, Eija A EA

Publication Date: 2013-12

Variant appearance in text: rs887199

PubMed Link: 24343288

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction of early environment, gender and genes of monoamine neurotransmission in the aetiology of depression in a large population-based Finnish birth cohort.

Bmj Open

Nyman, Emma S ES; Sulkava, Sonja S; Soronen, Pia P; Miettunen, Jouko J; Loukola, Anu A; Leppä, Virpi V; Joukamaa, Matti M; Mäki, Pirjo P; Järvelin, Marjo-Riitta MR; Freimer, Nelson N; Peltonen, Leena L; Veijola, Juha J; Paunio, Tiina T

Publication Date: 2011-08-27

Variant appearance in text: rs887199

PubMed Link: 22021758

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs887199

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

View BVdb publication page

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A functional variant provided further evidence for the association of ARVCF with schizophrenia.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Mas, Sergi S; Bernardo, Miquel M; Gassó, Patricia P; Alvarez, Santi S; Garcia-Rizo, Clemente C; Bioque, Miquel M; Kirkpatrick, Brian B; Lafuente, Amalia A

Publication Date: 2010-07

Variant appearance in text: rs887199

PubMed Link: 20333729

Variant Present in the following documents:

• Main text

View BVdb publication page

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The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.

Molecular Psychiatry

Mukherjee, N N; Kidd, K K KK; Pakstis, A J AJ; Speed, W C WC; Li, H H; Tarnok, Z Z; Barta, C C; Kajuna, S L B SL; Kidd, J R JR

Publication Date: 2010-02

Variant appearance in text: rs887199

PubMed Link: 18574484

Variant Present in the following documents:

• Main text

View BVdb publication page

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