List of works - Ohad Wormser

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

scientific article published on 8 October 2017

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

scientific article published on 12 February 2020

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

scientific article published on 12 April 2019

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

scientific article published on 11 December 2017

Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis

scientific article published on 11 June 2020

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

scientific article published on 10 March 2020

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

scientific article published on 26 October 2021

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

scientific article published on 30 April 2018

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

scientific article published on 04 December 2018

Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency

scientific article published on 26 November 2019

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

scientific article published on 01 December 2019

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

scientific article published on 01 March 2019

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

scientific article published on 01 November 2018

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome

scientific article published on 31 March 2020

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

scientific article published on 10 May 2017

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

scientific article published on 05 February 2019

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

scientific article published on 21 November 2018

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

scientific article published on 04 April 2019

List of works by Ohad Wormser