Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

Ortal Barel, Stavit A. Shalev, Rivka Ofir, +8

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsMolecular GeneticsMedical Genetics +3

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva, +50

Journal of Clinical Investigation

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

Ortal Barel, Zamir Shorer, Hagit Flusser, +7

The American Journal of Human Genetics

Protein Quality ControlMendelian DisorderMitochondrial FunctionGenetic DisorderNatural Sciences +8

Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects

Atar Lev, Yong Zhang, Batia Weiss, +29

The Journal of Experimental Medicine

Gastrointestinal BleedingGenome InstabilityThalidomide TreatmentGenetic DisorderGenetics +10

Somatic NRAS mutation in patient with generalized lymphatic anomaly

Eugenia Manevitz-Mendelson, Gil S. Leichner, Ortal Barel, +12

Angiogenesis

Lymphoid NeoplasiaAutoimmune DiseaseSomatic Nras MutationHistopathologyPathology +4

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in <i>ARPC1B</i>

Raz Somech, Atar Lev, Yu Nee Lee, +16

The Journal of Immunology

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, +35

The American Journal of Human Genetics

CardiomyopathyHeart FailureMendelian DisorderEncoding Phosphopantothenoylcysteine SynthetaseGenetics +4

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, +43

The American Journal of Human Genetics

Developmental AnomalySclerostinDevelopmental BiologyBone Morphogenic ProteinGenetics +7

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Ortal Barel, May Christine V. Malicdan, Bruria Ben‐Zeev, +31

Brain

MitophagyCellular DistributionGeneticsCause Fatal EncephalopathyCell Death +16

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Sara Reynhout, Sandra Jansen, Dorien Haesen, +33

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyMendelian DisorderBrain DevelopmentGenetic Disorder +9