Deletion Within Chromosome 22 is Common in Patients With Absent Pulmonary Valve Syndrome by Johnson, Mark C., Strauss, Arnold W., Dowton, S. Bruce, Spray, Thomas L., Huddleston, Charles B., Wood, Mary K., Slaugh, Rachel A., Watson, Michael S.

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A MILDER PHENOTYPE OF ASPARAGINE SYNTHETASE DEFICIENCY AND INITAL RESPONSE TO ASPARAGINE AND GLUTAMINE SUPPLEMENTATION by Lee, Angela, Slaugh, Rachel, Toolan, Elizabeth, Wiltrout, Kimberly, Weisenberg, Judith, Nguyen, Hoanh

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features by Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Yang, Jun, Juusola, Jane

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features by Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Juusola, Jane, Yang, Jun

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Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome by Starosta, Rodrigo Tzovenos, Jensen, Nathaniel, Couteranis, Sophia, Slaugh, Rachel, Easterlin, Dawn, Tate, Victoria, Sams, Eleanor I, Valle, Kostandin, Akinwe, Titilope, Hou, Ying-Chen Claire, Turner, Tychele N, Cole, F Sessions, Milbrandt, Jeffrey, Dickson, Patricia

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features by Pan, Xueyang, Tao, Alice M., Lu, Shenzhao, Ma, Mengqi, Hannan, Shabab B., Slaugh, Rachel, Drewes Williams, Sarah, O'Grady, Lauren, Kanca, Oguz, Person, Richard, Carter, Melissa T., Platzer, Konrad, Schnabel, Franziska, Abou Jamra, Rami, Roberts, Amy E., Newburger, Jane W., Revah-Politi, Anya, Granadillo, Jorge L., Stegmann, Alexander P.A., Sinnema, Margje, Accogli, Andrea, Salpietro, Vincenzo, Capra, Valeria, Ghaloul-Gonzalez, Lina, Brueckner, Martina, Simon, Marleen E.H., Sweetser, David A., Glinton, Kevin E., Kirk, Susan E., Burrage, Lindsay C., Heaney, Jason D., Kim, Seon-Young, Lanza, Denise G., Liu, Zhandong, Mao, Dongxue, Milosavljevic, Aleksander, Nagamani, Sandesh C.S., Posey, Jennifer E., Ramamurthy, Uma, Ramanathan, Vivek, Rogers, Jeffrey, Rosenfeld, Jill A., Roth, Matthew, Zahedi Darshoori, Ramin, Wangler, Michael F., Yamamoto, Shinya, Chung, Wendy K., Bellen, Hugo J.

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PTPN4 germline variants result in aberrant neurodevelopment and growth by Chmielewska, Joanna J., Burkardt, Deepika, Granadillo, Jorge Luis, Slaugh, Rachel, Morgan, Shamile, Rotenberg, Joshua, Keren, Boris, Mignot, Cyril, Escobar, Luis, Turnpenny, Peter, Zuteck, Melissa, Seaver, Laurie H., Ploski, Rafal, Dziembowska, Magdalena, Wynshaw-Boris, Anthony, Adegbola, Abidemi

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Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly... by Tarpey, Patrick S., Raymond, F. Lucy, O’Meara, Sarah, Edkins, Sarah, Teague, Jon, Butler, Adam, Dicks, Ed, Stevens, Claire, Tofts, Calli, Avis, Tim, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Jenkinson, Andrew, Jones, David, Menzies, Andrew, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, West, Sofie, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Holder, Susan, Smithson, Sarah F., Hurst, Jane A., Clayton-Smith, Jill, Kerr, Bronwyn, Boyle, Jackie, Shaw, Marie, Vandeleur, Lucianne, Rodriguez, Jayson, Slaugh, Rachel, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Srivastava, Anand K., Stevenson, Roger E., Schwartz, Charles E., Turner, Gillian, Gecz, Jozef, Futreal, P. Andrew, Stratton, Michael R., Partington, Michael

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A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25 by Cabezas, David A, Slaugh, Rachel, Abidi, Fatima, Arena, J Fernando, Stevenson, Roger E, Schwartz, Charles E, Lubs, Herbert A

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Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs by Martin, Rick A., Slaugh, Rachel, Natowicz, Marvin, Pearlman, Kayla, Orvisky, Eduard, Krasnewich, Donna, Kleta, Robert, Huizing, Marjan, Gahl, William A.

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A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death by Brackett, J C, Sims, H F, Steiner, R D, Nunge, M, Zimmerman, E M, deMartinville, B, Rinaldo, P, Slaugh, R, Strauss, A W

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GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease by Pehlivan, Tugce, Pober, Barbara R., Brueckner, Martina, Garrett, Stacey, Slaugh, Rachel, Van Rheeden, Richard, Wilson, David B., Watson, Michael S., Hing, Anne V.

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