Showing 1 - 6 results of 6 for search 'Michelle M. Morrow', query time: 0.03s
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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
Published 2025-04-01Get full text
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MGA-related syndrome: A proposed novel disorder by Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka
Published 2025-01-01Get full text
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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants. by Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis, Thomas Nalpathamkalam, Jimmy Nguyen, Celine Salhab, Bhooma Thiruvahindrapuram, Jade Zhang, Madeline Couse, Taila Hartley, Michelle M Morrow, E Magda Price, Susan Walker, David Malkin, Frederick P Roth, Gregory Costain
Published 2025-01-01Get full text
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4
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
Published 2025-07-01Get full text
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Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing by Alexandra C. Keefe, Dana M. Jensen, Meranda M. Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M. Morrow, Paul Kruszka, Divya Vats, Bianca E. Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O’Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D. Sperry, Barbara E. Hallinan, Rebecca Tryon, Troy C. Lund, Florian S. Eichler, Angela Sun, James T. Bennett
Published 2025-05-01Get full text
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FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder by Christopher W Fell, Astrid Hagelkruys, Ana Cicvaric, Marion Horrer, Lucy Liu, Joshua Shing Shun Li, Johannes Stadlmann, Anton A Polyansky, Stefan Mereiter, Miguel Angel Tejada, Tomislav Kokotović, Venkat Swaroop Achuta, Angelica Scaramuzza, Kimberly A Twyman, Michelle M Morrow, Jane Juusola, Huifang Yan, Jingmin Wang, Margit Burmeister, Biswa Choudhury, Thomas Levin Andersen, Gerald Wirnsberger, Uffe Holmskov, Norbert Perrimon, Bojan Žagrović, Francisco J Monje, Jesper Bonnet Moeller, Josef M Penninger, Vanja Nagy
Published 2022-08-01Get full text
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