Publications:

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Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.

Genome Medicine

Sandholm, Niina N; Hotakainen, Ronja R; Haukka, Jani K JK; Jansson Sigfrids, Fanny F; Dahlström, Emma H EH; Antikainen, Anni A AA; Valo, Erkka E; Syreeni, Anna A; Kilpeläinen, Elina E; Kytölä, Anastasia A; Palotie, Aarno A; Harjutsalo, Valma V; Forsblom, Carol C; Groop, Per-Henrik PH; ,

Publication Date: 2022-11-23

Variant appearance in text: rs3829462

PubMed Link: 36419110

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1135.pdf

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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: rs3829462

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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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: rs3829462

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs3829462

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs3829462

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs3829462

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs3829462

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3829462

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs3829462

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms in fatty acid metabolism genes and colorectal cancer.

Mutagenesis

Crous-Bou, M M; Rennert, G G; Salazar, R R; Rodriguez-Moranta, F F; Rennert, H S HS; Lejbkowicz, F F; Kopelovich, L L; Lipkin, S M SM; Gruber, S B SB; Moreno, V V

Publication Date: 2012-03

Variant appearance in text: rs3829462

PubMed Link: 22294764

Variant Present in the following documents:

• Main text

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Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology

Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL

Publication Date: 2011-07-10

Variant appearance in text: rs3829462

PubMed Link: 22229114

Variant Present in the following documents:

• Main text

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Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population.

Journal Of Lipid Research

Hodoglugil, Ugur U; Williamson, David W DW; Mahley, Robert W RW

Publication Date: 2010-02

Variant appearance in text: rs3829462

PubMed Link: 19734193

Variant Present in the following documents:

• Main text

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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology

Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F

Publication Date: 2009-03

Variant appearance in text: rs3829462

PubMed Link: 19041386

Variant Present in the following documents:

• Main text

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The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.

European Journal Of Human Genetics : Ejhg

Henneman, Peter P; van der Sman-de Beer, Femke F; Moghaddam, Payman Hanifi PH; Huijts, Petra P; Stalenhoef, Anton F H AF; Kastelein, John J P JJ; van Duijn, Cornelia M CM; Havekes, Louis M LM; Frants, Rune R RR; van Dijk, Ko Willems KW; Smelt, Augustinus H M AH

Publication Date: 2009-05

Variant appearance in text: rs3829462

PubMed Link: 19034316

Variant Present in the following documents:

• Main text

View BVdb publication page

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