Population-based screening for breast and ovarian cancer risk due to<i>BRCA1</i>and<i>BRCA2</i>

Efrat Gabai-Kapara, Amnon Lahad, Bella Kaufman, +13

Proceedings of the National Academy of Sciences

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, +50

Human Mutation

Endocrine Outcome in Long-Term Survivors of Childhood Brain Tumors

Shlomit Shalitin, Moran Gal, Yacob Goshen, +3

Hormone Research in Paediatrics

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders

Jasmine Jacob‐Hirsch, Eran Eyal, Binyamin A. Knisbacher, +13

Cell Research

Developmental BiologyBrain RetrotranspositionBrain DevelopmentGenetic DisorderGenetics +8

Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells

Paul Renbaum, Rachel Beeri, Efrat Gabai, +4

Gene

Alzheimer's DiseaseAutophagyCell DeathNeuroprotectionNeurology +7

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm

Moran Gal, Daniella Magen, Younan Zahran, +6

European Journal of Medical Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseSevere Intellectual Disability +8

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Alessandro Esposito, Antonio Falace, Matias Wagner, +25

Brain

MitophagyGeneticsPathologyDisease Gene IdentificationEpigenetics +18

Association between the Absolute Baseline Lymphocyte Count and Response to Neoadjuvant Platinum-based Chemotherapy in Muscle-invasive Bladder Cancer

Raya Leibowitz‐Amit, Ariel Israel, Moran Gal, +9

Clinical Oncology

Neoadjuvant Platinum-based ChemotherapyUrologyGenitourinary CancerMedicineMuscle-invasive Bladder Cancer +5

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Ben Pode‐Shakked, Ortal Barel, Amihood Singer, +33

Scientific Reports

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra‐familial phenotypic variability

Moran Gal, Erez Y. Levanon, Yasir Hujeirat, +3

American Journal of Medical Genetics Part A