P224: Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism by Carolina Montano, Luke Morina, Elizabeth Wohler, Winston Timp, Nara Sobreira

Get full text

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome by Molly B. Sheridan, Elizabeth Wohler, Denise A. S. Batista, Carolyn Applegate, Julie Hoover-Fong

Get full text

Identification and analyses of exonic and copy number variants in spastic paraplegia by Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth Wohler, P. Dane Witmer, Nara Sobreira, Sadaf Naz

Get full text

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex by Angie C. Jelin, Angie C. Jelin, Nikolai Sopko, Nara Sobreira, Nara Sobreira, Simeon A. Boyadjiev, Elizabeth Wohler, Christian Morrill, P. Dane Witmer, Jason Michaud, David Valle, John Gearhart, Heather Dicarlo

Get full text

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. by Sarah R Poll, Renan Martin, Elizabeth Wohler, Elizabeth S Partan, Elizabeth Walek, Shaima Salman, Daniel Groepper, Lisa Kratz, Mirlene Cernach, Reynaldo Jesus-Garcia, Chad Haldeman-Englert, Yoon Jae Choi, Carol D Morris, Bernard Cohen, Julie Hoover-Fong, David Valle, Gregg L Semenza, Nara L M Sobreira

Get full text