Showing 1–7 of 7 results
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Research | | Open
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Correspondence |
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
- Ian M. Campbell
- , Svetlana A. Yatsenko
- , Patricia Hixson
- , Tyler Reimschisel
- , Matthew Thomas
- , William Wilson
- , Usha Dayal
- , James W. Wheless
- , Amy Crunk
- , Cynthia Curry
- , Nicole Parkinson
- , Leona Fishman
- , James J. Riviello
- , Malgorzata J.M. Nowaczyk
- , Susan Zeesman
- , Jill A. Rosenfeld
- , Bassem A. Bejjani
- , Lisa G. Shaffer
- , Sau Wai Cheung
- , James R. Lupski
- , Pawel Stankiewicz
- & Fernando Scaglia
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Research |
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Research | | Open
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
- Melissa A Kelly
- , Colleen Caleshu
- , Ana Morales
- , Jillian Buchan
- , Zena Wolf
- , Steven M Harrison
- , Stuart Cook
- , Mitchell W Dillon
- , John Garcia
- , Eden Haverfield
- , Jan D H Jongbloed
- , Daniela Macaya
- , Arjun Manrai
- , Kate Orland
- , Gabriele Richard
- , Katherine Spoonamore
- , Matthew Thomas
- , Kate Thomson
- , Lisa M Vincent
- , Roddy Walsh
- , Hugh Watkins
- , Nicola Whiffin
- , Jodie Ingles
- , J Peter van Tintelen
- , Christopher Semsarian
- , James S Ware
- , Ray Hershberger
- & Birgit Funke
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Research |
