Nurit Assia Batzir

Therapeutic Genome Editing and its Potential Enhancement through CRISPR Guide RNA and Cas9 Modifications.

Nurit Assia Batzir, Adi Tovin, Ayal Hendel, 2017, Pediatric endocrinology reviews : PER.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Nurit Assia Batzir, C. Shaw, J. Lupski, 2021, medRxiv.

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Nurit Assia Batzir, N. Orenstein, J. Denecke, 2021, Annals of neurology.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Nurit Assia Batzir, B. Menten, B. Sadikovic, 2023, medRxiv.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2020 .

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Nurit Assia Batzir, H. Fuchs, A. Köttgen, 2023, Kidney international.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease

Nurit Assia Batzir, S. Ehl, R. Hite, 2024, Science advances.