Ohad Shmuel Birk

32PUBLICATIONS
69CO-AUTHORS
Cell development, proliferation and deathEpigenetics (incl. genome methylation and epigenomics)Psychosocial aspects of childbirth and perinatal mental healthProcedural content generationNeurology and neuromuscular diseases
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Publications (32)

|Jun 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Tomer Poleg, Noam Hadar, Eyal Kristal

|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli

|Mar 14, 2025
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Tomer Poleg, Noam Hadar, Gali Heimer

|Jan 10, 2025
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer

|Dec 27, 2024
GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.

Grisha Weintraub, Noam Hadar, Ehud Gudes

|Nov 05, 2024
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.

Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz

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Frequent Collaborators

12 joint publications

Yuval Yogev

10 joint publications

Noam Hadar

7 joint publications

Marina Eskin-Schwartz

6 joint publications

Max Drabkin