Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 445A>T

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: GC: R149W

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Frontiers In Endocrinology

Nanba, Kazutaka K; Rainey, William E WE; Udager, Aaron M AM

Publication Date: 2021

Variant appearance in text: GC: 445A>T

PubMed Link: 34267727

Variant Present in the following documents:

• fendo-12-683588.pdf

View BVdb publication page

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Human Lung Adenocarcinoma-Derived Organoid Models for Drug Screening.

Iscience

Li, Zhichao Z; Qian, Youhui Y; Li, Wujiao W; Liu, Lisa L; Yu, Lei L; Liu, Xia X; Wu, Guodong G; Wang, Youyu Y; Luo, Weibin W; Fang, Fuyuan F; Liu, Yuchen Y; Song, Fei F; Cai, Zhiming Z; Chen, Wei W; Huang, Weiren W

Publication Date: 2020-08-21

Variant appearance in text: GC: Arg149Trp

PubMed Link: 32771979

Variant Present in the following documents:

• mmc2.xls, sheet 1

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: GC: Arg149Trp

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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XRCC1 Arg399Gln and Arg194Trp polymorphisms and risk of systemic lupus erythematosus in an Iranian population: a pilot study.

Biomed Research International

Salimi, Saeedeh S; Mohammadoo-Khorasani, Milad M; Tabatabai, Ehsan E; Sandoughi, Mahnaz M; Zakeri, Zahra Z; Naghavi, Anoosh A

Publication Date: 2014

Variant appearance in text: GC: Arg149Trp

PubMed Link: 24971336

Variant Present in the following documents:

• BMRI2014-492956.pdf

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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Human Molecular Genetics

Herdewyn, Sarah S; Zhao, Hui H; Moisse, Matthieu M; Race, Valérie V; Matthijs, Gert G; Reumers, Joke J; Kusters, Benno B; Schelhaas, Helenius J HJ; van den Berg, Leonard H LH; Goris, An A; Robberecht, Wim W; Lambrechts, Diether D; Van Damme, Philip P

Publication Date: 2012-06-01

Variant appearance in text: GC: R149W

PubMed Link: 22343411

Variant Present in the following documents:

• Main text

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