Detalhe da pesquisa
1.
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
2.
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
3.
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Cytogenet Genome Res
; 163(1-2): 14-23, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37497920
4.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Clin Genet
; 104(2): 198-209, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198960
5.
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Am J Med Genet A
; 191(12): 2831-2836, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551848
6.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
7.
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Clin Genet
; 101(1): 87-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664257
8.
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
9.
H. Eldon Sutton, PhD (1927-2023): A long and full life.
Am J Hum Genet
; 110(12): 1989-1991, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38065070
10.
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
11.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 22(16)2021 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445317
12.
Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.
Chromosome Res
; 31(1): 1, 2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36656404
13.
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.
Clin Genet
; 94(6): 590-591, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308089
14.
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability.
Genet Med
; 18(2): 168-73, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25880438
15.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(11): 2228, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637969
16.
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
J Med Genet
; 52(7): 476-83, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26032025
17.
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Hum Mutat
; 35(1): 58-62, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24130152
18.
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
Hum Genet
; 133(7): 847-59, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24481935
19.
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.
Genet Med
; 16(4): 318-28, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136618
20.
Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
Am J Med Genet A
; 164A(11): 2887-91, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123844