Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: CBS: 215A>T; Lys72Ile

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

Molecular Genetics & Genomic Medicine

Men, Shuai S; Liu, Shuang S; Zheng, Qin Q; Yang, Shuting S; Mao, Huafen H; Wang, Zhiwei Z; Gu, Ying Y; Tang, Xinxin X; Wang, Leilei L

Publication Date: 2023-02-14

Variant appearance in text: CBS: 215A>T

PubMed Link: 36787440

Variant Present in the following documents:

• MGG3-11-e2152.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: CBS: K72I; rs192232907

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CBS: 215A>T; K72I

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: CBS: 215A>T; K72I; rs192232907

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: CBS: K72I; rs192232907

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1
• AJMG-179-1260-s005.xlsx, sheet 1

View BVdb publication page

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