Not logged in The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders Dragojlovic, Nick; van Karnebeek, Clara D. M.; Ghani, Aisha; Genereaux, Dallas; Kim, Ellen; Birch, Patricia; Adam, Shelin; Elliott, Alison M.; Friedman, Jan M.; Lynd, Larry D.; Mwenifumbo, Jill; Nelson, Tanya N. Share Save
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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability Zahir, Farah R.; Mwenifumbo, Jill C.; Chun, Hye-Jung E.; Lim, Emilia L.; Van Karnebeek, Clara D. M.; Couse, Madeline; Mungall, Karen L.; Lee, Leora; Makela, Nancy; Armstrong, Linlea; Boerkoel, Cornelius F.; Langlois, Sylvie L.; McGillivray, Barbara M.; Jones, Steven J. M.; Friedman, Jan M.; Marra, Marco A. Share Save
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection Ulrick, Nicole; Goldstein, Amy; Simons, Cas; Taft, Ryan J.; Heiman, Guy; Pizzino, Amy; Bloom, Miriam; Vogt, Julie; Pysden, Karen; Diodato, Dania; Martinelli, Diego; Monavari, Ahmad; Buhas, Daniela; van Karnebeek, Clara D. M.; Dorboz, Imen; Boespflug-Tanguy, Odile; Rodriguez, Diana; Tetreault, Martine; Majewski, Jacek; Bernard, Genevieve; Ng, Yi Shiau; McFarland, Robert; Vanderver, Adeline Share Save
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development van Karnebeek, Clara D. M.; Bonafe, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J.; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J.; Van Allen, Margot I.; Rossi, Andrea; Engelke, Udo F.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W.; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J.; Wevers, Ron A.; Superti-Furga, Andrea Share Save
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability Stray-Pedersen, Asbjorg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tetreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo-Graovac, Maja; van Karnebeek, Clara D. M.; Lupski, James R.; Ren, Dejian; Yoon, Grace Share Save
Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements Jaggumantri, Sravan; Dunbar, Mary; Edgar, Vanessa; Mignone, Cristina; Newlove, Theresa; Elango, Rajavel; Collet, Jean Paul; Sargent, Michael; Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D. M. Share Save
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