Search details
1.
Expanded targeted preconception screening panel in Israel: findings and insights.
J Med Genet
; 2024 May 06.
Article
in English
| MEDLINE | ID: mdl-38719349
2.
Chiral molecule candidates for trapped ion spectroscopy by ab initio calculations: From state preparation to parity violation.
J Chem Phys
; 159(11)2023 Sep 21.
Article
in English
| MEDLINE | ID: mdl-37724734
3.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.
Nature
; 538(7624): 201-206, 2016 Oct 13.
Article
in English
| MEDLINE | ID: mdl-27654912
4.
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Mol Genet Genomics
; 296(3): 653-663, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33694043
5.
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Am J Med Genet A
; 185(11): 3390-3400, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34435747
6.
Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.
Genet Med
; 22(3): 646-653, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31624327
7.
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Genet Med
; 22(10): 1703-1709, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32616942
8.
Adolescent BMI and early-onset type 2 diabetes among Ethiopian immigrants and their descendants: a nationwide study.
Cardiovasc Diabetol
; 19(1): 168, 2020 10 06.
Article
in English
| MEDLINE | ID: mdl-33023586
9.
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Hum Mutat
; 40(11): e1-e23, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31209999
10.
Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families.
Am J Hum Genet
; 99(1): 163-73, 2016 07 07.
Article
in English
| MEDLINE | ID: mdl-27392075
11.
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.
J Med Genet
; 55(3): 166-172, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29331982
12.
Reconstructing the demographic history of the Himalayan and adjoining populations.
Hum Genet
; 137(2): 129-139, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29356938
13.
Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.
Hum Hered
; 82(3-4): 87-102, 2016.
Article
in English
| MEDLINE | ID: mdl-28910803
14.
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Harefuah
; 156(4): 212-216, 2017 Apr.
Article
in Hebrew
| MEDLINE | ID: mdl-28551919
15.
Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.
Genet Res (Camb)
; 98: e8, 2016 05 13.
Article
in English
| MEDLINE | ID: mdl-27173948
16.
Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.
Genet Res (Camb)
; 98: e10, 2016 06 06.
Article
in English
| MEDLINE | ID: mdl-27265430
17.
The genome-wide structure of the Jewish people.
Nature
; 466(7303): 238-42, 2010 Jul 08.
Article
in English
| MEDLINE | ID: mdl-20531471
18.
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Hum Mutat
; 36(4): 439-42, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25645515
19.
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Hum Genet
; 134(3): 305-14, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25560765
20.
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Hum Genet
; 134(6): 577-87, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25792360