Detalhe da pesquisa
1.
A genome-wide spectrum of tandem repeat expansions in 338,963 humans.
Cell
; 187(9): 2336-2341.e5, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38582080
2.
Towards improved genetic diagnosis of human differences of sex development.
Nat Rev Genet
; 22(9): 588-602, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34083777
3.
Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.
J Pathol
; 260(3): 329-338, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37203791
4.
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Am J Hum Genet
; 106(1): 121-128, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883643
5.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Clin Genet
; 104(3): 377-383, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194472
6.
In Addition to Stigma: Cognitive and Autism-Related Predictors of Mental Health in Transgender Adolescents.
J Clin Child Adolesc Psychol
; 52(2): 212-229, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-34121545
7.
Long-read single-molecule maps of the functional methylome.
Genome Res
; 29(4): 646-656, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30846530
8.
Long reads capture simultaneous enhancer-promoter methylation status for cell-type deconvolution.
Bioinformatics
; 37(Suppl_1): i327-i333, 2021 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34252972
9.
Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson's disease.
Proc Natl Acad Sci U S A
; 116(33): 16577-16582, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31371505
10.
Transgender Youth Executive Functioning: Relationships with Anxiety Symptoms, Autism Spectrum Disorder, and Gender-Affirming Medical Treatment Status.
Child Psychiatry Hum Dev
; 53(6): 1252-1265, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34146208
11.
nanotatoR: a tool for enhanced annotation of genomic structural variants.
BMC Genomics
; 22(1): 10, 2021 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407088
12.
Multisystem Inflammatory Syndrome of Children: Subphenotypes, Risk Factors, Biomarkers, Cytokine Profiles, and Viral Sequencing.
J Pediatr
; 237: 125-135.e18, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34181987
13.
The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group.
J Sex Med
; 18(6): 1122-1129, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34030966
14.
The End of Compulsory Gender Verification: Is It Progress for Inclusion of Women in Sports?
Arch Sex Behav
; 50(7): 2799-2807, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34494166
15.
Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics.
Sociol Health Illn
; 41(8): 1520-1534, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31225650
16.
Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors.
J Infect Dis
; 218(12): 1929-1936, 2018 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107445
17.
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Hum Mol Genet
; 25(16): 3446-3453, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378692
18.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728775
19.
Emerging issues in disorders/differences of sex development (DSD).
Am J Med Genet C Semin Med Genet
; 175(2): 249-252, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577349
20.
Disorders of sex development (DSD): Clinical service delivery in the United States.
Am J Med Genet C Semin Med Genet
; 175(2): 268-278, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28557237