FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Michal Avitzour, Hagar Mor‐Shaked, Shira Yanovsky‐Dagan, +8

Stem Cell Reports

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin, +94

The American Journal of Human Genetics

Neurodevelopmental DisordersDifferent Neurodevelopmental DisordersNeurodegenerative DiseasesDevelopmental BiologyMendelian Disorder +13

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady, +81

Nature Communications

Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

Alex Gileles‐Hillel, Hagar Mor‐Shaked, David Shoseyov, +9

ERJ Open Research

The G-rich Repeats in <i>FMR1</i> and <i>C9orf72</i> Loci Are Hotspots for Local Unpairing of DNA

Manar Abu Diab, Hagar Mor‐Shaked, Eliora Cohen, +4

Genetics

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Jessica X. Chong, Jared C. Talbot, Emily M. Teets, +28

The American Journal of Human Genetics

Novel Segmental AmyoplasiaDistal ArthrogryposisGeneticsPathologyMorphogenesis +3

Exome sequencing for structurally normal fetuses—yields and ethical issues

Hagit Daum, Tamar Harel, Talya Millo, +13

European Journal of Human Genetics

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry, Frédéric Ebstein, Alice Mollé, +55

The American Journal of Human Genetics

Developmental BiologyMolecular NeuroscienceSyndromic Neurodevelopmental DisorderBrain DevelopmentGenetic Disorder +7

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing

Tova Wagner, Duha Fahham, Ayala Frumkin, +7

Prenatal Diagnosis

Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencing

Hagar Mor‐Shaked, Emuna Paz‐Ebstein, Adily Basal, +13

Brain Communications