Reclassification of the BRAF p.Ile208Val variant by case-level data sharing

por Grant, Andrew R., Hemphill, Sarah E., Vincent, Lisa M., Rehm, Heidi L.
Publicado 2018

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

por Harrison, Steven M., Dolinsky, Jill S., Knight Johnson, Amy E., Pesaran, Tina, Azzariti, Danielle R., Bale, Sherri, Chao, Elizabeth C., Das, Soma, Vincent, Lisa, Rehm, Heidi L.
Publicado 2017

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

por Gelb, Bruce D., Cavé, Hélène, Dillon, Mitchell W., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Williams, Bradley, Zenker, Martin, Vincent, Lisa M.
Publicado 2018

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

por Walker, Logan C., de la Hoya, Miguel, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T, Canson, Daffodil M, Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B, Pesaran, Tina, Karam, Rachid, Harrison, Steven, Spurdle, Amanda B
Publicado 2023

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp...

por Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit
Publicado 2018