P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly by Nichole Owen, Liesbeth Vossaert, Lorraine Potocki, Elizabeth Mizerik

Get full text

P700: Heterozygous deletion of valine at position 2321 of RYR2 in two siblings with sudden cardiac death by Eric Kao, Elizabeth Mizerik, Yishay Ben Moshe, Nichole Owen, Liesbeth Vossaert

Get full text

P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 by Chelsi Rose, Elizabeth Mizerik, Nichole Owen, Casey Thornton, Chaya Murali, Lorraine Potocki

Get full text

P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome by Matthew Hoi Kin Chau, Elizabeth Mizerik, Laurie Robak, Pengfei Liu, Liesbeth Vossaert, Nichole Owen

Get full text

P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease by Katharina Schulze, Matthew Hoi Kin Chau, Hongzheng Dai, Elizabeth Mizerik, Keren Machol, Nichole Owen

Get full text

P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly by Casey Thornton, Nichole Owen, Elizabeth Mizerik, Chelsi Rose, Seema Lalani, Emily Waskow, Keren Machol

Get full text

P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat by Emily Waskow, Elizabeth Mizerik, Nichole Owen, Matthew Hoi Kin Chau, Rachel Franciskovich, Kevin Glinton, Keren Machol

Get full text

P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy by Casey Thornton, Elizabeth Mizerik, Dan Brooks, Chaya Murali, Christian Parobek, Lorraine Potocki, Pengfei Liu, Nichole Owen, Liesbeth Vossaert

Get full text

P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome by Liesbeth Vossaert, Nichole Owen, Hongzheng Dai, Eric Kao, Xiaonan Zhao, Seema Lalani, Monika Weisz-Hubshman, Lorraine Potocki, Elizabeth Mizerik

Get full text

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss by Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani

Get full text

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population by Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project

Get full text

Altered cohesin gene dosage affects Mammalian meiotic chromosome structure and behavior. by Brenda Murdoch, Nichole Owen, Michelle Stevense, Helen Smith, So Nagaoka, Terry Hassold, Michael McKay, Huiling Xu, Jun Fu, Ekaterina Revenkova, Rolf Jessberger, Patricia Hunt

Get full text

P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders by Amir Hossein Saeidian, Liesbeth Vossaert, Elizabeth Mizerik, Wilson CW. Wu, Hongzheng Dai, Nichole Owen, Janice Smith, Linyan Meng, Christine Eng, Fan Xia, Weimin Bi, Xiaonan Zhao

Get full text

P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis by Matthew Hoi Kin Chau, Stephanie Anderson, Rodger Song, Lance Cooper, Patricia Ward, Bo Yuan, Pawel Stankiewicz, Sau Cheung, Liesbeth Vossaert, Yue Wang, Nichole Owen, Janice Smith, Carlos Bacino, Katharina Schulze, Weimin Bi

Get full text

P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases by Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler

Get full text