Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet;
110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37196654
2.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Hum Mol Genet;
32(9): 1457-1465, 2023 04 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36458889
3.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Hum Mol Genet;
32(3): 386-401, 2023 01 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35981081
4.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet;
108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33811806
5.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med;
26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38251460
6.
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Clin Genet;
105(2): 173-184, 2024 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37899624
7.
Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A;
194(6): e63514, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38329159
8.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Am J Hum Genet;
106(2): 234-245, 2020 02 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31928709
9.
X-Linked intellectual disability update 2022.
Am J Med Genet A;
191(1): 144-159, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36300573
10.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med;
24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35678782
11.
A SOX3 duplication and lumbosacral spina bifida in three generations.
Am J Med Genet A;
188(5): 1572-1577, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35098650
12.
In search of the earliest images of symmelia in works of art.
Am J Med Genet C Semin Med Genet;
187(2): 151-156, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33982428
13.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med;
23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33547396
14.
Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures.
Am J Med Genet A;
185(5): 1379-1387, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33522143
15.
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
J Med Genet;
57(7): 461-465, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31924697
16.
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.
Int J Mol Sci;
22(3)2021 Jan 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33498634
17.
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Hum Mutat;
41(5): 921-925, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31999386
18.
Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.
Cytogenet Genome Res;
160(1): 2-10, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31865307
19.
Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification.
J Pediatr;
226: 186-194.e4, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32634404
20.
X-linked intellectual disability: Phenotypic expression in carrier females.
Clin Genet;
97(3): 418-425, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31705537