Detalhe da pesquisa
1.
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Cell
; 186(6): 1162-1178.e20, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36931244
2.
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Br J Haematol
; 200(2): 222-228, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207145
3.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125634
4.
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
Am J Med Genet A
; 191(4): 977-982, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610046
5.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906466
6.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
7.
Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.
J Pediatr
; 248: 89-93, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577121
8.
Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability.
Am J Med Genet A
; 188(6): 1808-1814, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253988
9.
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
Am J Med Genet A
; 188(3): 878-882, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34881817
10.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811546
11.
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Am J Med Genet A
; 185(5): 1486-1493, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683002
12.
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
Am J Med Genet A
; 185(12): 3694-3700, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291880
13.
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
J Inherit Metab Dis
; 44(4): 1001-1012, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734437
14.
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Am J Med Genet C Semin Med Genet
; 184(4): 1030-1041, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274544
15.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet
; 101(6): 985-994, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198724
16.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
17.
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq.
Genet Med
; 22(7): 1181-1190, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32225167
18.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
19.
Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis.
Am J Med Genet A
; 182(12): 3035-3039, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33016642
20.
A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.
Am J Med Genet A
; 182(8): 1877-1880, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618095