Search Results - "Rudy, Natasha"

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG) by Gonzales, Patrick R., Andersen, Erica F., Brown, Teneille R., Horner, Vanessa L., Horwitz, Juli, Rehder, Catherine W., Rudy, Natasha L., Robin, Nathaniel H., Thorland, Erik C., on behalf of the ACMG Laboratory Quality Assurance Committee

“…Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)–based chromosomal microarray and exome and genome sequencing,…”
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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology by Banka, Siddharth, Bennington, Abigail, Baker, Martin J, Rijckmans, Ellen, Clemente, Giuliana D, Ansor, Nurhuda Mohamad, Sito, Hilary, Prasad, Pritha, Anyane-Yeboa, Kwame, Badalato, Lauren, Dimitrov, Boyan, Fitzpatrick, David, Hurst, Anna C E, Jansen, Anna C, Kelly, Melissa A, Krantz, Ian, Rieubland, Claudine, Ross, Meredith, Rudy, Natasha L, Sanz, Javier, Stouffs, Katrien, Xu, Zhuo Luan, Malliri, Angeliki, Kazanietz, Marcelo G, Millard, Tom H

“…RAC1 is a highly conserved Rho GTPase critical for many cellular and developmental processes. De novo missense RAC1 variants cause a highly variable…”
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Experiences of Family Communication and Cascade Genetic Testing for Hereditary Cancer in Medically Underserved Populations-A Qualitative Study by Bednar, Erica M, Rauh-Hain, J Alejandro, Garcia, Jose J, de Aguinaga, Norma, Powell, Mary Anne, Peral, Sylvia L, Nitecki, Roni, Jorgensen, Kirsten, Rudy, Natasha L, Lu, Karen H, Leath, 3rd, Charles A, Scarinci, Isabel C

“…We sought to explore the intrafamilial communication and cascade genetic testing (CGT) experiences of patients with hereditary cancer from diverse, medically…”
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A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C by Upadia, Jariya, Gonzales, Patrick R., Atkinson, T. Prescott, Schroeder, Harry W., Robin, Nathaniel H., Rudy, Natasha L., Mikhail, Fady M.

“…Phelan‐McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q13. This…”
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Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency by Rudy, Natasha, Aoki, Kazuhiro, Ananth, Amitha, Holloway, Lynda, Skinner, Cindy, Hurst, Anna, Tiemeyer, Michael, Steet, Richard

“…GM3 synthase deficiency (GM3SD) is caused by biallelic variants in ST3GAL5. The ganglioside GM3, enriched in neuronal tissues, is a component of lipid rafts…”
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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway by Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

“…CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein kinase II (CK2), which is known to mediate diverse cellular pathways…”
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Genetic testing hearing loss: The challenge of non syndromic mimics by Gooch, Catherine, Rudy, Natasha, Smith, Richard JH, Robin, Nathaniel H.

“…Congenital hearing loss is a common cause of morbidity in early childhood. There are multiple reasons for congenital hearing impairment, with genetic…”
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Keratoconus in a patient with B3GALT6‐related disorder by Descartes, Maria, Melenevsky, Yulia V., Rudy, Natasha, Smith, Kirstin, Callaway, Kaitlin, Parker, Jack S.

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Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome by Belnap, Newell, Price‐Smith, Aiai, Ramsey, Keri, Leka, Kamawela, Abraham, Anna, Lieberman, Emma, Hassett, Katie, Potu, Sai, Rudy, Natasha, Smith, Kirstin, Mikhail, Fady M., Monaghan, Kirstin G., Hendershot, Andrea, Mourmans, Jeroen, Descartes, Maria, Huentelman, Matthew J., Sills, Jennifer, Rangasamy, Sampath, Narayanan, Vinodh

“…Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in…”
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability by Schalk, Audrey, Cousin, Margot A, Dsouza, Nikita R, Challman, Thomas D, Wain, Karen E, Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C, Kemppainen, Jennifer L, Innes, Micheil, Kooy, Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, Francois, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth, El Achkar, Christelle Moufawad, Park, Meredith, Hamdan, Fadi F, Michaud, Jacques L, Lewis, Ann J, Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen, Brilstra, Eva H, Itzikowitz, Gina, O'Heir, Emily, Allen, Jake, Donald, Kirsten A, Korf, Bruce Richard, Skelton, Tammi, Thompson, Michelle, Robin, Nathaniel H, Rudy, Natasha L, Dobyns, William B, Foss, Kimberly, Zarate, Yuri Alexander, Bosanko, Katherine A, Alembik, Yves, Durand, Benjamin, Tran Mau-Them, Frederic, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E, McWalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari, Zimmermann, Michael T, Klee, Eric W, Piton, Amelie, Gerard, Benedicte

“…High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD). This study describes the…”
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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype by Isidor, Bertrand, Ebstein, Frédéric, Hurst, Anna, Vincent, Marie, Bader, Ingrid, Rudy, Natasha L., Cogne, Benjamin, Mayr, Johannes, Brehm, Anja, Bupp, Caleb, Warren, Kathryn, Bacino, Carlos A., Gerard, Amanda, Ranells, Judith D., Metcalfe, Kay A., van Bever, Yolande, Jiang, Yong-Hui, Mendelssohn, Bryce A., Cope, Heidi, Rosenfeld, Jill A., Blackburn, Patrick R., Goodenberger, McKinsey L., Kearney, Hutton M., Kennedy, Joanna, Scurr, Ingrid, Szczaluba, Krzysztof, Ploski, Rafal, de Saint Martin, Anne, Alembik, Yves, Piton, Amélie, Bruel, Ange-Line, Thauvin-Robinet, Christel, Strong, Alanna, Diderich, Karin E.M., Bourgeois, Dominique, Dahan, Karin, Vignard, Virginie, Bonneau, Dominique, Colin, Estelle, Barth, Magalie, Camby, Caroline, Baujat, Geneviève, Briceño, Ignacio, Gómez, Alberto, Deb, Wallid, Conrad, Solène, Besnard, Thomas, Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Stankiewicz, PaweƗ

“…Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability…”
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The Informational and Emotional Support Needs of Grandparents of Children with Pompe Disease by Rudy, Natasha Louise

“…The complex roles and experiences of grandparents of children with various diagnoses have been described, but previous studies have not investigated the roles…”
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Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency by Rudy, Natasha, Aoki, Kazuhiro, Ananth, Amitha, Holloway, Lynda, Skinner, Cindy, Hurst, Anna, Tiemeyer, Michael, Steet, Richard

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Keratoconus in a patient with B3GALT6-related disorder by Descartes, Maria, Melenevsky, Yulia V, Rudy, Natasha, Smith, Kirstin, Callaway, Kaitlin, Parker, Jack S

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