Detalhe da pesquisa
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
2.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
3.
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Am J Med Genet A
; 191(3): 842-845, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495139
4.
Perspectives on the future of dysmorphology.
Am J Med Genet A
; 191(3): 659-671, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484420
5.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Am J Hum Genet
; 99(4): 934-941, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616479
6.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med
; 21(3): 663-675, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158690
7.
Expanding the neurodevelopmental phenotype of PURA syndrome.
Am J Med Genet A
; 176(1): 56-67, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29150892
8.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439098
9.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373908
10.
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Neurogenetics
; 17(1): 43-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26576547
11.
Newborn screening for SCID in New York State: experience from the first two years.
J Clin Immunol
; 34(3): 289-303, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578017
12.
Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.
Mol Genet Metab
; 112(1): 9-16, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667082
13.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
JAMA
; 312(7): 729-38, 2014 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138334
14.
Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.
Am J Audiol
; : 1-9, 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346147
15.
Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.
Pediatr Res
; 73(2): 135-41, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23168575
16.
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Nat Genet
; 30(3): 321-4, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11836498
17.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Sci Adv
; 9(7): eade4814, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800428
18.
Replication of a genome-wide association study of birth weight in preterm neonates.
J Pediatr
; 160(1): 19-24.e4, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21885063
19.
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Genome Med
; 14(1): 113, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180924
20.
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
J Med Genet
; 47(3): 155-61, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19833603