Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Expanded targeted preconception screening panel in Israel: findings and insights.
J Med Genet
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38719349
3.
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Hum Genomics
; 17(1): 30, 2023 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36978159
4.
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
5.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Prenat Diagn
; 44(4): 422-431, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054560
6.
International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients.
Prenat Diagn
; 43(4): 428-434, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221164
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639281
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221156
9.
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.
Genet Med
; 23(6): 1023-1027, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473206
10.
Economic impact of using maternal plasma cell-free DNA testing to guide further workup in recurrent pregnancy loss.
Prenat Diagn
; 41(10): 1215-1221, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002411
11.
Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.
Hum Reprod
; 35(5): 1222-1229, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386059
12.
Oncofertility: insights from IVF specialists-a worldwide web-based survey analysis.
J Assist Reprod Genet
; 36(5): 1013-1021, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788661
13.
Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies.
Fetal Diagn Ther
; 45(2): 118-124, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977787
14.
An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening.
Reprod Biomed Online
; 36(4): 442-449, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29433970
15.
Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis.
Am J Obstet Gynecol
; 218(2): 247.e1-247.e12, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146387
16.
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism.
Brain
; 145(10): e90-e91, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802022
17.
Improving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype.
Reprod Biol Endocrinol
; 15(1): 31, 2017 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446182
18.
Preimplantation genetic screening: results of a worldwide web-based survey.
Reprod Biomed Online
; 35(6): 693-700, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28988928
19.
A founding father of reproductive genetics: Eugene Pergament (1933-2022).
Prenat Diagn
; 42(8): 959-961, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621153
20.
Association of aberrant right subclavian artery with abnormal karyotype and microarray results.
Prenat Diagn
; 37(8): 808-811, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28618053