Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in <i>PIGN</i>

G. Maydan, Iris Noyman, Adi Har‐Zahav, +9

Journal of Medical Genetics

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel‐Vanagaite, Bruno Dallapiccola, Ramiro Ramírez‐Solis, +33

The American Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic Disease +4

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Guntram Borck, Byung‐Sik Shin, Barbara Stiller, +21

Molecular Cell

Translational BiologyGenetic DisorderGeneticsTranslational RelevanceTranslational Research +6

apoB and apobec1, two genes key to lipid metabolism, are transcriptionally regulated by p53

Osnat Ashur‐Fabian, Adi Har‐Zahav, Aviv Shaish, +7

Cell Cycle

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

Shlomit Hellman-Aharony, Pola Smirin‐Yosef, Ayelet Halevy, +9

Pediatric Neurology

Neurological DisorderMutated Taf2NeuroscienceNeurologyNeuropathology +2

Extrahepatic cholangiocyte obstruction is mediated by decreased glutathione, Wnt and Notch signaling pathways in a toxic model of biliary atresia

Sophia Fried, Dafna Gilboa, Adi Har‐Zahav, +7

Scientific Reports

SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System

Efrat Birk, Adi Har‐Zahav, M. Chiara Manzini, +18

The American Journal of Human Genetics

Neurodevelopmental DisordersNeurodegenerative DiseasesMendelian DisorderNeurological DisorderGenetic Disorder +10

The Wnt/β‐catenin pathway determines the predisposition and efficiency of liver‐to‐pancreas reprogramming

Helit Cohen, Hila Barash, Irit Meivar‐Levy, +12

Hepatology

Human vascularized bile duct-on-a chip: a multi-cellular micro-physiological system for studying cholestatic liver disease

Yu Du, Iris E. M. de Jong, Kapish Gupta, +9

Biofabrication

Periductal bile acid exposure causes cholangiocyte injury and fibrosis

Miri Dotan, Sophia Fried, Adi Har‐Zahav, +3

PLoS ONE