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Brain : a Journal of Neurology|March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathySietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.American Journal of Human Genetics|March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyLise Barbé, Stella Lanni, Arturo López-Castel, et al.Neurology|September 22, 2017
UFM1 founder mutation in the Roma population causes recessive variant of H-ABCEline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.Gastroenterology|February 24, 2010
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)Jane Louise Hartley, Nicholas C Zachos, Ban Dawood, et al.Diabetes|November 10, 2020
Pancreatic β-Cell-Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin SecretionChristian H Burns, Belinda Yau, Anjelica Rodriguez, et al.Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.American Journal of Human Genetics|January 1, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasiaJennifer E Below, Dawn L Earl, Kathryn M Shively, et al.Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.Pageof 53