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Nature Genetics|March 12, 2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disabilityKatrina Tatton-Brown, Sheila Seal, Elise Ruark, et al.Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.Brain : a Journal of Neurology|April 27, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesMarie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, et al.Clinical Genetics|June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorderJonathan Lévy, Bérénice Schell, Hala Nasser, et al.Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.Annals of Neurology|December 19, 2003
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)Katja Grohmann, Raymonda Varon, Piroschka Stolz, et al.Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.Pediatric Research|September 27, 2005
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah A McDermott, Michael C Bressan, Jie He, et al.Haematologica|June 7, 2021
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndromeAyala Tovy, Carina Rosas, Amos S Gaikwad, et al.Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.Pageof 13