Search details
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Article
in English
| MEDLINE | ID: mdl-38815585
2.
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
N Engl J Med
; 389(18): 1685-1692, 2023 Nov 02.
Article
in English
| MEDLINE | ID: mdl-37913506
3.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Article
in English
| MEDLINE | ID: mdl-35108495
4.
Expanded targeted preconception screening panel in Israel: findings and insights.
J Med Genet
; 2024 May 06.
Article
in English
| MEDLINE | ID: mdl-38719349
5.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Lancet Oncol
; 25(5): 668-682, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38552658
6.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36586540
7.
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Hum Genomics
; 17(1): 30, 2023 03 28.
Article
in English
| MEDLINE | ID: mdl-36978159
8.
Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.
Telemed J E Health
; 30(4): 1013-1019, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37943530
9.
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variant.
Hum Genet
; 142(5): 683-690, 2023 May.
Article
in English
| MEDLINE | ID: mdl-35314883
10.
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Mol Genet Metab
; 140(3): 107702, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37776842
11.
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Prenat Diagn
; 43(10): 1374-1377, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37639281
12.
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
J Med Genet
; 59(4): 318-327, 2022 04.
Article
in English
| MEDLINE | ID: mdl-33622763
13.
[GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN].
Harefuah
; 162(6): 370-375, 2023 Jun.
Article
in Hebrew
| MEDLINE | ID: mdl-37394440
14.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Article
in English
| MEDLINE | ID: mdl-33276377
15.
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis. Reply.
N Engl J Med
; 390(16): 1539-1540, 2024 Apr 25.
Article
in English
| MEDLINE | ID: mdl-38657262
16.
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
Prenat Diagn
; 42(12): 1484-1487, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36221156
17.
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
J Hum Genet
; 66(11): 1101-1112, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-33980986
18.
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Am J Med Genet A
; 185(10): 3161-3166, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34145742
19.
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
Am J Hematol
; 96(9): 1156-1165, 2021 09 01.
Article
in English
| MEDLINE | ID: mdl-34161616
20.
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
J Med Genet
; 57(7): 500-504, 2020 07.
Article
in English
| MEDLINE | ID: mdl-30858171