A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures by Alison M. Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink, Lily Tran, Bobbi McGivern

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P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients* by Melanie Napier, Elizabeth Williams, Shamila Yusuff, Adi Reich, Hua Gao, Jacob Zyskind, Julianna Spangler, Katie Schafer, Bethany Friedman, Paul Kruszka, Joseph Devaney, Britt Johnson

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

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Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies by Michelle M. Morrow, Erin Torti, Bobbi McGivern, Ryan Gates, Mir Reza Bekheirnia, Nasim Bekheirnia, Leandra Folk, Shannon Holtrop, Timothy Blake Palculict, Olivia L. Redlich, Adi Reich, Maria J. Guillen Sacoto, Lisong Shi, Ingrid M. Wentzensen, Kirsty McWalter

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Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation by Bobbi McGivern, Tess Holling, Maria J. Guillen Sacoto, Hákon Gudbjartsson, Ibrahim M. Abdelrazek, Malik Alawi, Yan Bai, Olaf Bodamer, Amy Crunk, Amy E. Dameron, Lisa M. Dyer, Lindsay B. Henderson, Mira Irons, Kerstin Kutsche, Caroline McGowan, Kristin G. Monaghan, Kaitlyn O’Connor, Asma Rashid, Olivia L. Redlich, Adi Reich, Christopher Simotas, Sara Welner, Ingrid M. Wentzensen

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