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European Journal of Human Genetics : EJHG|November 13, 2014
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4ADina Fine, Hagit Flusser, Barak Markus, et al.American Journal of Human Genetics|November 25, 2010
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutationMiora Feinstein, Barak Markus, Iris Noyman, et al.Clinical Genetics|April 20, 2022
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3Daniel Halperin, Nadav Agam, Maher Hallak, et al.Genes|January 21, 2022
Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in IsraelRotem Tal-Ben Ishay, Apurba Shil, Shirley Solomon, et al.Autism Research : Official Journal of the International Society for Autism Research|October 2, 2020
Young Autism Spectrum Disorder Children in Special and Mainstream Education Settings Have Similar Behavioral CharacteristicsMichal Ilan, Gal Meiri, Liora Manelis-Baram, et al.Journal of Medical Genetics|March 1, 2014
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)Miora Feinstein, Hagit Flusser, Tally Lerman-Sagie, et al.Journal of Autism and Developmental Disorders|June 21, 2017
Brief Report: The Negev Hospital-University-Based (HUB) Autism DatabaseGal Meiri, Ilan Dinstein, Analya Michaelowski, et al.American Journal of Human Genetics|October 6, 2010
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophyOrly Agamy, Bruria Ben Zeev, Dorit Lev, et al.European Journal of Human Genetics : EJHG|May 11, 2017
Progressive hereditary spastic paraplegia caused by a homozygous KY mutationYuval Yogev, Yonatan Perez, Iris Noyman, et al.Journal of Medical Genetics|November 23, 2018
<i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndromeDaniel Halperin, Rotem Kadir, Yonatan Perez, et al.Pageof 5