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: TTN: R32936H; rs774296358

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Oral Squamous Cell Carcinoma in Young Patients Show Higher Rates of EGFR Amplification: Implications for Novel Personalized Therapy.

Frontiers In Oncology

Satgunaseelan, Laveniya L; Porazinski, Sean S; Strbenac, Dario D; Istadi, Aji A; Willet, Cali C; Chew, Tracy T; Sadsad, Rosemarie R; Palme, Carsten E CE; Lee, Jenny H JH; Boyer, Michael M; Yang, Jean Y H JYH; Clark, Jonathan R JR; Pajic, Marina M; Gupta, Ruta R

Publication Date: 2021

Variant appearance in text: TTN: R32936H

PubMed Link: 34912708

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Bmc Medical Genetics

Khan, Amjad A; Wang, Rongrong R; Han, Shirui S; Umair, Muhammad M; Abbas, Safdar S; Khan, Muhammad Ismail MI; Alshabeeb, Mohammad A MA; Alfadhel, Majid M; Zhang, Xue X

Publication Date: 2019-10-29

Variant appearance in text: TTN: 98807G>A; Arg32936His; rs774296358

PubMed Link: 31664938

Variant Present in the following documents:

• Main text
• 12881_2019_Article_895.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: TTN: R32936H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page