Limb girdle muscular disease caused by <i>HMGCR</i> mutation and statin myopathy treatable with mevalonolactone

Yuval Yogev, Zamir Shorer, Arie Koifman, +12

Proceedings of the National Academy of Sciences

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

Ohad Wormser, Libe Gradstein, Yuval Yogev, +18

European Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsPathogenesis +7

<i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndrome

Daniel Halpérin, Rotem Kadir, Yonatan Perez, +13

Journal of Medical Genetics

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

Yonatan Perez, Reut Bar-Yaacov, Rotem Kadir, +5

Brain

Microtubule ExtensionsCytoskeletonMap11 AssociatesCell CycleMicrotubule-associated Protein Map11 +18

Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase

Max Drabkin, Yuval Yogev, Lior Zeller, +9

Journal of Clinical Investigation

UrologyRenal FunctionBiochemistryMedicineD-lactate Dehydrogenase +12

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice

Daniel Halpérin, Alexandra Stavsky, Rotem Kadir, +14

Nature Communications

AdhdCdh2 MutationDevelopmental BiologyGenetic DisorderAttention-deficit Hyperactivity Disorder +13

Nocturnal Atrial Fibrillation Caused by Mutation in <i>KCND2</i> , Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel

Max Drabkin, Noam Zilberberg, Sasson Menahem, +9

Circulation Genomic and Precision Medicine

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

Yuval Yogev, Yonatan Perez, Iris Noyman, +13

European Journal of Human Genetics

Developmental AnomalyRare DiseasesKinesiologyMendelian DisorderGenetic Disorder +6

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

Mor Hanany, Gilad Allon, Adva Kimchi, +9

European Journal of Human Genetics

Ocular DiseaseCarrier Frequency AnalysisIsraeli PopulationOphthalmologyRetina +5

A novel homozygous <i>SLC25A1</i> mutation with impaired mitochondrial complex V: Possible phenotypic expansion

Idan Cohen, Orna Staretz‐Chacham, Ohad Wormser, +4

American Journal of Medical Genetics Part A