Detalhe da pesquisa
1.
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.
Hum Genet
; 143(2): 185-195, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302665
2.
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Am J Med Genet A
; 194(3): e63451, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882230
3.
Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice.
Biol Reprod
; 108(4): 619-628, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36723967
4.
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Proc Natl Acad Sci U S A
; 117(24): 13680-13688, 2020 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493750
5.
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.
J Assist Reprod Genet
; 40(9): 2211-2218, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453019
6.
Motifs of the C-terminal domain of MCM9 direct localization to sites of mitomycin-C damage for RAD51 recruitment.
J Biol Chem
; 296: 100355, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33539926
7.
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.
Clin Genet
; 102(2): 87-97, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35532184
8.
Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.
Hum Reprod
; 37(10): 2334-2349, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001050
9.
Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice.
Biol Reprod
; 105(5): 1205-1220, 2021 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34333627
10.
Reproductive outcomes in individuals with chromosomal reciprocal translocations.
Genet Med
; 23(9): 1753-1760, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972719
11.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1793-1806, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285390
12.
Cytogenetic signatures of recurrent pregnancy losses.
Prenat Diagn
; 41(1): 70-78, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33015842
13.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Hum Mol Genet
; 27(7): 1228-1240, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29373757
14.
Copy number alterations involving 59 ACMG-recommended secondary findings genes.
Clin Genet
; 98(6): 577-588, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009833
15.
Genetics of human female infertility.
Biol Reprod
; 101(3): 549-566, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077289
16.
A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.
Genet Med
; 21(10): 2275-2284, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30948856
17.
TAF4b Regulates Oocyte-Specific Genes Essential for Meiosis.
PLoS Genet
; 12(6): e1006128, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27341508
18.
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
J Assist Reprod Genet
; 36(1): 39-45, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30406445
19.
Importance of complete phenotyping in prenatal whole exome sequencing.
Hum Genet
; 137(2): 175-181, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392406
20.
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
N Engl J Med
; 372(22): 2097-107, 2015 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25970010