Detalhe da pesquisa
1.
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
2.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet
; 110(8): 1229-1248, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541186
3.
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
4.
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
5.
Paucity and Disparity of Publicly Available Sex-Disaggregated Data for the COVID-19 Epidemic Hamper Evidence-Based Decision-Making.
Arch Sex Behav
; 50(2): 407-426, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398705
6.
Objective documentation of hypospadias anatomy with three-dimensional scanning.
J Pediatr Urol
; 20(2): 239.e1-239.e6, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38104026
7.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645094
8.
Membrane ß-catenin and adherens junctions in early gonadal patterning.
Dev Dyn
; 241(11): 1782-98, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22972715
9.
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic.
BMC Med Genomics
; 16(1): 268, 2023 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37899449
10.
Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
ArXiv
; 2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36713248
11.
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32832708
12.
New technologies to uncover the molecular basis of disorders of sex development.
Mol Cell Endocrinol
; 468: 60-69, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29655603
13.
Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool.
Horm Res Paediatr
; 90(6): 368-380, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30783028
14.
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.
Biol Sex Differ
; 9(1): 8, 2018 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378665
15.
Genetics of Disorders of Sex Development: The DSD-TRN Experience.
Endocrinol Metab Clin North Am
; 46(2): 519-537, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28476235
16.
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
Genome Med
; 9(1): 90, 2017 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29070057
17.
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Nat Genet
; 44(7): 788-92, 2012 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22634751
18.
Differential perturbation of the Fgf/Erk1/2 and Shh pathways in the C57BL/6N and SWV embryonic limb buds after mid-gestational cadmium chloride administration.
Mol Genet Metab
; 92(3): 258-70, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17707671
19.
Abnormal venous and arterial patterning in Chordin mutants.
Dev Dyn
; 236(9): 2586-93, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17685487
20.
Control of endocardial cushion and cardiac valve maturation by BMP signaling pathways.
Mol Genet Metab
; 80(1-2): 27-35, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14567955