P345: Atypical presentations of Shwachman-Diamond syndrome diagnosed by whole exome sequencing and literature review by Wang, Hua, Ramanathan, Subhadra

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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome by Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas

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P463: A novel de novo microdeletion at 9q33.3, including LHX2, in a patient with developmental delay and autism spectrum disorder by Gagnon, Marie-France, Barnett, Sarah, Ramanathan, Subhadra, Clark, Robin, Hoppman, Nicole

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SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly by Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Martinez, Ariel F., Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian

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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay by Muller, Eric A., Aradhya, Swaroop, Atkin, Joan F., Carmany, Erin P., Elliott, Alison M., Chudley, Albert E., Clark, Robin D., Everman, David B., Garner, Shannon, Hall, Bryan D., Herman, Gail E., Kivuva, Emma, Ramanathan, Subhadra, Stevenson, David A., Stockton, David W., Hudgins, Louanne

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eP244 - Xp21 deletion syndrome in a female with intellectual disability by Ramanathan, Subhadra, Liu, Taryn, Clark, Robin

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Xp21 deletion syndrome in a female with intellectual disability by Ramanathan, Subhadra, Liu, Taryn, Clark, Robin

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eP243 - A low penetrance, late-truncating SALL1 variant is associated with a mild phenotype of Townes-Brock syndrome in heterozygotes by Ramanathan, Subhadra, Shallow, Natalie, Trapane, Pamela, Clark, Robin

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A low penetrance, late-truncating SALL1 variant is associated with a mild phenotype of Townes-Brock syndrome in heterozygotes by Ramanathan, Subhadra, Shallow, Natalie, Trapane, Pamela, Clark, Robin

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A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB)... by Ramanathan, Subhadra, Woodroffe, Abigail, Flodman, Pamela L, Mays, Lee Z, Hanouni, Mona, Modahl, Charlotte B, Steinberg-Epstein, Robin, Bocian, Maureen E, Spence, M Anne, Smith, Moyra

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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum by Palmer, Elizabeth E., Whitton, Chloe, Hashem, Mais O., Clark, Robin D., Ramanathan, Subhadra, Starr, Lois J., Velasco, Danita, De Dios, John Karl, Singh, Emily, Cormier‐Daire, Valerie, Chopra, Maya, Rodan, Lance H., Nellaker, Christoffer, Lakhani, Shenela, Mallack, Eric J., Panzer, Karin, Sidhu, Alpa, Wentzensen, Ingrid M., Lacombe, Didier, Michaud, Vincent, Alkuraya, Fowzan S.

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Microdeletion 9q22.3 Syndrome Includes Metopic Craniosynostosis, Hydrocephalus, Macrosomia, and Developmental Delay by MULLER, Eric A, ARADHYA, Swaroop, HERMAN, Gail E, KIVUVA, Emma, RAMANATHAN, Subhadra, STEVENSON, David A, STOCKTON, David W, HUDGINS, Louanne, ATKIN, Joan F, CARMANY, Erin P, ELLIOTT, Alison M, CHUDLEY, Albert E, CLARK, Robin D, EVERMAN, David B, GARNER, Shannon, HALL, Bryan D

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