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: GFAP: E223Q; rs56679084

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

European Journal Of Medical Research

Heshmatzad, Katayoun K; Naderi, Niloofar N; Masoumi, Tannaz T; Pouraliakbar, Hamidreza H; Kalayinia, Samira S

Publication Date: 2022-09-10

Variant appearance in text: GFAP: E223Q

PubMed Link: 36088400

Variant Present in the following documents:

• 40001_2022_Article_799.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: GFAP: E223Q

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.

Frontiers In Oncology

Cao, Jian J; Yang, Chun-He CH; Han, Wei-Qing WQ; Xie, Yu Y; Liu, Zhi-Zhong ZZ; Jiang, Shu-Suan SS

Publication Date: 2021

Variant appearance in text: GFAP: 667G>C; E223Q; rs56679084

PubMed Link: 34150614

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Does genetic anticipation occur in familial Alexander disease?

Neurogenetics

Hunt, Camille K CK; Al Khleifat, Ahmad A; Burchill, Ella E; Ederle, Joerg J; Al-Chalabi, Ammar A; Sreedharan, Jemeen J

Publication Date: 2021-07

Variant appearance in text: GFAP: E223Q

PubMed Link: 34046764

Variant Present in the following documents:

• 10048_2021_Article_642.pdf

View BVdb publication page

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GFAP at 50.

Asn Neuro

Messing, Albee A; Brenner, Michael M

Publication Date: 2020

Variant appearance in text: GFAP: Glu223Gln

PubMed Link: 32811163

Variant Present in the following documents:

• Main text
• 10.1177_1759091420949680.pdf

View BVdb publication page

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Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

Balkan Journal Of Medical Genetics : Bjmg

Paprocka, J J; Rzepka-Migut, B B; Rzepka, N N; Jezela-Stanek, A A; Morava, E E

Publication Date: 2019-12

Variant appearance in text: GFAP: Glu223Gln

PubMed Link: 31942421

Variant Present in the following documents:

• bjmg-22-077.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: GFAP: 667G>C; Glu223Gln; rs56679084

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: GFAP: E223Q; rs56679084

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: GFAP: E223Q; rs56679084

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: GFAP: E223Q; rs56679084

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

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: rs56679084

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GFAP: E223Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: rs56679084

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.

Iranian Journal Of Pediatrics

Ashrafi, Mahmoud-Reza MR; Tavasoli, Alireza A; Aryani, Omid O; Alizadeh, Hooman H; Houshmand, Massoud M

Publication Date: 2013-08

Variant appearance in text: GFAP: Glu223Gln

PubMed Link: 24427505

Variant Present in the following documents:

• Main text
• IJPD-23-481.pdf

View BVdb publication page

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Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

Bmc Neurology

Namekawa, Michito M; Takiyama, Yoshihisa Y; Honda, Junko J; Shimazaki, Haruo H; Sakoe, Kumi K; Nakano, Imaharu I

Publication Date: 2010-04-01

Variant appearance in text: GFAP: E223Q

PubMed Link: 20359319

Variant Present in the following documents:

• Main text
• 1471-2377-10-21.pdf

View BVdb publication page

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An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.

Journal Of Neurology

Dotti, Maria Teresa MT; Buccoliero, Rosaria R; Lee, Andrew A; Gorospe, J Raphael JR; Flint, Daniel D; Galluzzi, Paolo P; Bianchi, Silvia S; D'Eramo, Camilla C; Naidu, Sakkubai S; Federico, Antonio A; Brenner, Michael M

Publication Date: 2009-04

Variant appearance in text: GFAP: 667G>C; Glu223Gln

PubMed Link: 19444543

Variant Present in the following documents:

• Main text

View BVdb publication page

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GFAP and its role in Alexander disease.

Experimental Cell Research

Quinlan, Roy A RA; Brenner, Michael M; Goldman, James E JE; Messing, Albee A

Publication Date: 2007-06-10

Variant appearance in text: GFAP: E223Q

PubMed Link: 17498694

Variant Present in the following documents:

• Main text

View BVdb publication page

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