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: V33889I; rs34924609

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

American Journal Of Human Genetics

Wyrwoll, Margot J MJ; Gaasbeek, Channah M CM; Golubickaite, Ieva I; Stakaitis, Rytis R; Oud, Manon S MS; Nagirnaja, Liina L; Dion, Camille C; Sindi, Emad B EB; Leitch, Harry G HG; Jayasena, Channa N CN; Sironen, Anu A; Dicke, Ann-Kristin AK; Rotte, Nadja N; Stallmeyer, Birgit B; Kliesch, Sabine S; Grangeiro, Carlos H P CHP; Araujo, Thaís F TF; Lasko, Paul P; , ; D'Hauwers, Kathleen K; Smits, Roos M RM; Ramos, Liliana L; Xavier, Miguel J MJ; Conrad, Don F DF; Almstrup, Kristian K; Veltman, Joris A JA; Tüttelmann, Frank F; van der Heijden, Godfried W GW

Publication Date: 2022-10-06

Variant appearance in text: TTN: 101665G>A; Val33889Ile

PubMed Link: 36150389

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: TTN: V33889I; rs34924609

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TTN: V33889I; rs34924609

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page