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Discovering predisposing genes for hereditary breast cancer using deep learning.
- Published in:
- Briefings in Bioinformatics, 2024, v. 25, n. 4, p. 1, doi. 10.1093/bib/bbae346
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- Publication type:
- Article
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01276-2
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- Publication type:
- Article
Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis.
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- European Journal of Endocrinology, 2023, v. 189, n. 3, p. K7, doi. 10.1093/ejendo/lvad127
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- Publication type:
- Article
Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies.
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- Cancers, 2022, v. 14, n. 24, p. 6113, doi. 10.3390/cancers14246113
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- Publication type:
- Article
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3110, doi. 10.1002/ajmg.a.62943
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- Publication type:
- Article
Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors.
- Published in:
- Familial Cancer, 2021, v. 20, n. 3, p. 189, doi. 10.1007/s10689-020-00216-y
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- Publication type:
- Article
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
- Published in:
- Molecular Genetics & Genomics, 2021, v. 296, n. 3, p. 653, doi. 10.1007/s00438-021-01772-3
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- Publication type:
- Article
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two “Mild” Mutations.
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- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. e680, doi. 10.1210/clinem/dgaa875
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- Publication type:
- Article
NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.
- Published in:
- 2020
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- Publication type:
- journal article
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005652
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- Publication type:
- Article
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 259, doi. 10.1007/s10048-020-00615-4
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- Publication type:
- Article
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
- Published in:
- Endocrine (1355008X), 2020, v. 69, n. 3, p. 650, doi. 10.1007/s12020-020-02327-z
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- Publication type:
- Article
Israeli Position Paper: Triage Decisions for Severely Ill Patients During the COVID-19 Pandemic. Joint Commission of the Israel National Bioethics Council, the Ethics Bureau of the Israel Medical Association and Representatives from the Israeli Ministry of Health
- Published in:
- Rambam Maimonides Medical Journal, 2020, v. 11, n. 3, p. 1, doi. 10.5041/RMMJ.10411
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- Publication type:
- Article
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1268, doi. 10.1002/ajmg.a.61538
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- Publication type:
- Article
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 178, n. 1, p. 231, doi. 10.1007/s10549-019-05379-6
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- Publication type:
- Article
Analysis of the genetic basis of height in large Jewish nuclear families.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.pgen.1008082
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- Publication type:
- Article
Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers.
- Published in:
- 2019
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- Publication type:
- journal article
American Funding Cutback to East Jerusalem Hospitals: A Blow to the Health of the City.
- Published in:
- 2018
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- Publication type:
- Editorial
Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0046-7
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- Publication type:
- Article
Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34396-6
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- Publication type:
- Article
Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29215-x
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- Publication type:
- Article
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
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- International Journal of Cancer, 2017, v. 141, n. 4, p. 750, doi. 10.1002/ijc.30771
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- Publication type:
- Article
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
- Published in:
- 2015
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- Publication type:
- journal article
Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0138893
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- Publication type:
- Article
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
- Published in:
- 2015
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- Publication type:
- journal article
TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0134120
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- Publication type:
- Article
VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle.
- Published in:
- Scientific Reports, 2015, p. 10543, doi. 10.1038/srep10543
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- Publication type:
- Article
Proposed Shift in Screening for Breast Cancer.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
Proposed shift in screening for breast cancer--reply.
- Published in:
- 2015
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- Publication type:
- commentary
The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 3, p. 936, doi. 10.1523/JNEUROSCI.1998-14.2015
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- Publication type:
- Article
Precision medicine meets public health: population screening for BRCA1 and BRCA2.
- Published in:
- 2015
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- Publication type:
- editorial
Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2014, v. 107, n. 1, p. 1, doi. 10.1093/jnci/dju420
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- Publication type:
- Article
Population-Based Screening for BRCA1 and BRCA2.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 11, p. 1091, doi. 10.1001/jama.2014.12483
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- Publication type:
- Article
Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award.
- Published in:
- 2014
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- Publication type:
- journal article
Testicular differentiation factor SF-1 is required for human spleen development.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 5, p. 2071, doi. 10.1172/JCI73186
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- Publication type:
- Article
Testicular differentiation factor SF-1 is required for human spleen development.
- Published in:
- 2014
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- Publication type:
- journal article
Parkin acts as a transcription factor modulating presenilin-1 and presenilin-2 promoter transactivations.
- Published in:
- 2013
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- Publication type:
- Abstract
Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long-Range PCR in the Single-Cell Assay.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 792, doi. 10.1002/humu.22298
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- Publication type:
- Article
Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription.
- Published in:
- Journal of Molecular Cell Biology, 2013, v. 5, n. 2, p. 132, doi. 10.1093/jmcb/mjt003
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- Publication type:
- Article
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 2, p. 209, doi. 10.1530/EJE-12-0127
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- Publication type:
- Article
Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 371, doi. 10.1093/hmg/ddr472
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- Publication type:
- Article
Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis.
- Published in:
- Molecular Biology International, 2012, p. 1, doi. 10.1155/2012/797342
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- Publication type:
- Article
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2801, doi. 10.1002/ajmg.a.34240
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- Publication type:
- Article
Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2154, doi. 10.1002/ajmg.a.34155
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- Publication type:
- Article
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 2, doi. 10.1186/gb-2011-12-9-r89
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- Publication type:
- Article
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 9, p. 853, doi. 10.1002/pd.2786
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- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) - prevention of the birth of children affected with endocrine diseases.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 7/8, p. 543, doi. 10.1515/jpem.2011.262
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- Publication type:
- Article
A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 938, doi. 10.1002/ajmg.a.33871
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- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 3, p. 233, doi. 10.1007/s10815-010-9508-2
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- Publication type:
- Article
PGD for fragile X syndrome: ovarian function is the main determinant of success.
- Published in:
- Human Reproduction, 2010, v. 25, n. 10, p. 2629, doi. 10.1093/humrep/deq203
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- Publication type:
- Article