Detalhe da pesquisa
1.
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
2.
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
3.
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Hum Genet
; 140(1): 135-154, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955275
4.
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
5.
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
Am J Hum Genet
; 103(2): 200-212, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075111
6.
Translational aspects of novel findings in genetics of male infertility-status quo 2021.
Br Med Bull
; 140(1): 5-22, 2021 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34755838
7.
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Clin Endocrinol (Oxf)
; 94(4): 656-666, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296094
8.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Hum Mutat
; 40(9): 1530-1545, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301157
9.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Hum Mutat
; 40(9): 1519-1529, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342580
10.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Hum Mutat
; 40(9): 1373-1391, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322791
11.
Structural genomic variation as risk factor for idiopathic recurrent miscarriage.
Hum Mutat
; 35(8): 972-82, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24827138
12.
Undiagnosed RASopathies in infertile men.
Front Endocrinol (Lausanne)
; 15: 1312357, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38654924
13.
Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Sci Rep
; 13(1): 574, 2023 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631630
14.
Diverse monogenic subforms of human spermatogenic failure.
Nat Commun
; 13(1): 7953, 2022 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36572685
15.
Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health.
Placenta
; 116: 2-11, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33663810
16.
Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.
J Am Heart Assoc
; 10(17): e021236, 2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34398675
17.
Corrigendum to "Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health" [Placenta 116 (2021) 2-11].
Placenta
; 125: 84, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35450731
18.
Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families.
Sci Rep
; 7: 45327, 2017 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28345611
19.
Extensive load of somatic CNVs in the human placenta.
Sci Rep
; 5: 8342, 2015 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25666259