Publications:

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: NF1: T841P

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-12

Variant appearance in text: NF1: 2521A>C; Thr841Pro

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-06-03

Variant appearance in text: NF1: 2521A>C; Thr841Pro

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

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Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Genes

Yao, Ruen R; Yu, Tingting T; Xu, Yufei Y; Yu, Li L; Wang, Jiwen J; Wang, Xiumin X; Wang, Jian J; Shen, Yiping Y

Publication Date: 2019-10-26

Variant appearance in text: NF1: 2521A>C; T841P

PubMed Link: 31717729

Variant Present in the following documents:

• Main text
• genes-10-00847.pdf

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

American Journal Of Human Genetics

Koczkowska, Magdalena M; Chen, Yunjia Y; Callens, Tom T; Gomes, Alicia A; Sharp, Angela A; Johnson, Sherrell S; Hsiao, Meng-Chang MC; Chen, Zhenbin Z; Balasubramanian, Meena M; Barnett, Christopher P CP; Becker, Troy A TA; Ben-Shachar, Shay S; Bertola, Debora R DR; Blakeley, Jaishri O JO; Burkitt-Wright, Emma M M EMM; Callaway, Alison A; Crenshaw, Melissa M; Cunha, Karin S KS; Cunningham, Mitch M; D'Agostino, Maria D MD; Dahan, Karin K; De Luca, Alessandro A; Destrée, Anne A; Dhamija, Radhika R; Eoli, Marica M; Evans, D Gareth R DGR; Galvin-Parton, Patricia P; George-Abraham, Jaya K JK; Gripp, Karen W KW; Guevara-Campos, Jose J; Hanchard, Neil A NA; Hernández-Chico, Concepcion C; Immken, LaDonna L; Janssens, Sandra S; Jones, Kristi J KJ; Keena, Beth A BA; Kochhar, Aaina A; Liebelt, Jan J; Martir-Negron, Arelis A; Mahoney, Maurice J MJ; Maystadt, Isabelle I; McDougall, Carey C; McEntagart, Meriel M; Mendelsohn, Nancy N; Miller, David T DT; Mortier, Geert G; Morton, Jenny J; Pappas, John J; Plotkin, Scott R SR; Pond, Dinel D; Rosenbaum, Kenneth K; Rubin, Karol K; Russell, Laura L; Rutledge, Lane S LS; Saletti, Veronica V; Schonberg, Rhonda R; Schreiber, Allison A; Seidel, Meredith M; Siqveland, Elizabeth E; Stockton, David W DW; Trevisson, Eva E; Ullrich, Nicole J NJ; Upadhyaya, Meena M; van Minkelen, Rick R; Verhelst, Helene H; Wallace, Margaret R MR; Yap, Yoon-Sim YS; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen K; Martin, Yolanda Y; Korf, Bruce R BR; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2018-01-04

Variant appearance in text: NF1: 2521A>C; Thr841Pro

PubMed Link: 29290338

Variant Present in the following documents:

• mmc3.pdf
• mmc1.pdf

View BVdb publication page