Detalhe da pesquisa
1.
C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Mol Cell
; 84(6): 1021-1035.e11, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359823
2.
Toward clinical exomes in diagnostics and management of male infertility.
Am J Hum Genet
; 111(5): 877-895, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38614076
3.
A naturally occurring variant of MBD4 causes maternal germline hypermutation in primates.
Genome Res
; 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984997
4.
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.
Proc Natl Acad Sci U S A
; 120(30): e2219925120, 2023 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459509
5.
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Am J Hum Genet
; 109(8): 1458-1471, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35809576
6.
Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects.
J Cell Mol Med
; 28(2): e18031, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37937809
7.
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome.
Am J Hum Genet
; 108(10): 1924-1945, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626582
8.
Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
N Engl J Med
; 385(8): 707-719, 2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347949
9.
Consensus label propagation with graph convolutional networks for single-cell RNA sequencing cell type annotation.
Bioinformatics
; 39(6)2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267208
10.
DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l1) is not essential for male fertility in mice.
Dev Biol
; 490: 66-72, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35850260
11.
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Am J Hum Genet
; 107(2): 342-351, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32673564
12.
SATINN: an automated neural network-based classification of testicular sections allows for high-throughput histopathology of mouse mutants.
Bioinformatics
; 38(23): 5288-5298, 2022 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214638
13.
Dynamic landscape and regulation of RNA editing in mammals.
Nature
; 550(7675): 249-254, 2017 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29022589
14.
Rhesus macaque fetal and placental growth demographics: A resource for laboratory animal researchers.
Am J Primatol
; 85(8): e23526, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37244752
15.
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
PLoS Genet
; 16(8): e1008691, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764743
16.
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Hum Reprod
; 37(7): 1652-1663, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35535697
17.
The Sertoli cell expressed gene secernin-1 (Scrn1) is dispensable for male fertility in the mouse.
Dev Dyn
; 250(7): 922-931, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442887
18.
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.
Hum Genet
; 140(1): 155-182, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248361
19.
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Hum Genet
; 140(1): 217-227, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33211200
20.
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Hum Genet
; 140(8): 1169-1182, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963445