Detalhe da pesquisa
1.
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.
J Hum Genet
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632380
2.
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Prenat Diagn
; 2024 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735835
3.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn
; 44(4): 511-518, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353311
4.
The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities.
Am J Perinatol
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38688298
5.
Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.
Arch Gynecol Obstet
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38494511
6.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
7.
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
Am J Med Genet A
; 191(10): 2551-2557, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37357910
8.
A call for public funding of invasive and non-invasive prenatal testing.
J Perinat Med
; 51(8): 992-996, 2023 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207994
9.
Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening-detectable findings.
Am J Obstet Gynecol
; 226(4): 562.e1-562.e8, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34762861
10.
Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects.
Arch Gynecol Obstet
; 306(4): 1007-1013, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35083553
11.
A study of normal copy number variations in Israeli population.
Hum Genet
; 140(3): 553-563, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980975
12.
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Genet Med
; 23(1): 215-221, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32801363
13.
The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
Am J Med Genet A
; 185(5): 1461-1467, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619900
14.
The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening.
Am J Obstet Gynecol
; 225(3): 333.e1-333.e14, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34052193
15.
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.
Arch Gynecol Obstet
; 304(3): 649-656, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33591382
16.
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Arch Gynecol Obstet
; 303(1): 85-92, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761367
17.
The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters.
Fetal Diagn Ther
; 48(2): 140-148, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352557
18.
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Genet Med
; 22(10): 1703-1709, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616942
19.
What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?
Acta Obstet Gynecol Scand
; 99(6): 757-764, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31424084
20.
The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.
J Perinat Med
; 48(6): 553-558, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721143