Nurit Assia Batzir

5PUBLICATIONS
77CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Immunogenetics (incl. genetic immunology)Genetics not elsewhere classifiedGene expression (incl. microarray and other genome-wide approaches)
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Publications (5)

|Sep 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.

Asier Iturrate, Nurit Assia Batzir, Ranit Jaron

|Nov 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie

|Sep 13, 2024
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.

Anne Molitor, Alexandre Lederle, Mirjana Radosavljevic

|Sep 24, 2021
A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.

Noa Ruhrman-Shahar, Nurit Assia Batzir, Gabriel Arie Lidzbarsky

|Nov 30, 2019
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Nurit Assia Batzir, Jennifer E Posey, Xiaofei Song

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Frequent Collaborators

1 joint publications

Jennifer E Posey

1 joint publications

Hilary J Vernon

1 joint publications

Anne Molitor

1 joint publications

Alexandre Lederle