Publications:

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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: FUCA1: P10L; rs2070956

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Potential Role of Cannabinoid Type 2 Receptors in Neuropsychiatric and Neurodegenerative Disorders.

Frontiers In Psychiatry

Ishiguro, Hiroki H; Kibret, Berhanu Geresu BG; Horiuchi, Yasue Y; Onaivi, Emmanuel S ES

Publication Date: 2022

Variant appearance in text: rs2070956

PubMed Link: 35774086

Variant Present in the following documents:

• Main text
• fpsyt-13-828895.pdf

View BVdb publication page

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New Insights and Potential Therapeutic Targeting of CB2 Cannabinoid Receptors in CNS Disorders.

International Journal Of Molecular Sciences

Kibret, Berhanu Geresu BG; Ishiguro, Hiroki H; Horiuchi, Yasue Y; Onaivi, Emmanuel S ES

Publication Date: 2022-01-17

Variant appearance in text: rs2070956

PubMed Link: 35055161

Variant Present in the following documents:

• Main text
• ijms-23-00975.pdf

View BVdb publication page

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New Insights and Potential Therapeutic Targeting of CB2 Cannabinoid Receptors in CNS Disorders.

International Journal Of Molecular Sciences

Kibret, Berhanu Geresu BG; Ishiguro, Hiroki H; Horiuchi, Yasue Y; Onaivi, Emmanuel S ES

Publication Date: 2022-01-17

Variant appearance in text: rs2070956

PubMed Link: 35055161

Variant Present in the following documents:

• Main text
• ijms-23-00975.pdf

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: rs2070956

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genetic variation in the endocannabinoid system and response to Cognitive Behavior Therapy for child anxiety disorders.

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

Lester, Kathryn J KJ; Coleman, Jonathan R I JR; Roberts, Susanna S; Keers, Robert R; Breen, Gerome G; Bögels, Susan S; Creswell, Cathy C; Hudson, Jennifer L JL; McKinnon, Anna A; Nauta, Maaike M; Rapee, Ronald M RM; Schneider, Silvia S; Silverman, Wendy K WK; Thastum, Mikael M; Waite, Polly P; Wergeland, Gro Janne H GJ; Eley, Thalia C TC

Publication Date: 2017-03

Variant appearance in text: rs2070956

PubMed Link: 27346075

Variant Present in the following documents:

• Main text
• AJMG-174-144.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: rs2070956

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs2070956

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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