Ohad Shmuel Birk

34PUBLICATIONS
71CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Cell development, proliferation and deathPsychosocial aspects of childbirth and perinatal mental healthProcedural content generationNeurology and neuromuscular diseases
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Publications (34)

|Sep 21, 2026
NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.

|Aug 27, 2026
Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement.

|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

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Frequent Collaborators

12 joint publications

Yuval Yogev

11 joint publications

Noam Hadar

7 joint publications

Marina Eskin-Schwartz

6 joint publications

Max Drabkin