Detalhe da pesquisa
1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
2.
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Am J Med Genet A
; 194(5): e63509, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158391
3.
Returning Individual Research Results from Digital Phenotyping in Psychiatry.
Am J Bioeth
; 24(2): 69-90, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37155651
4.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
PLoS Genet
; 17(7): e1009639, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232960
5.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Proc Natl Acad Sci U S A
; 118(25)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161264
6.
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Genet Med
; 24(4): 839-850, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027292
7.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597717
8.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347
9.
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
J Med Internet Res
; 23(3): e21023, 2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724192
10.
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
Hum Mol Genet
; 26(18): 3545-3552, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911200
11.
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Genet Med
; 21(7): 1585-1593, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514889
12.
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.
Am J Med Genet A
; 179(7): 1299-1303, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31012281
13.
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
BMC Med Genet
; 19(1): 197, 2018 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30424743
14.
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.
J Autoimmun
; 86: 116-119, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942902
15.
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Am J Med Genet A
; 176(12): 2623-2629, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30151950
16.
SCN1A variants associated with sudden infant death syndrome.
Epilepsia
; 59(4): e56-e62, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601086
17.
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
J Hum Genet
; 62(2): 243-252, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708273
18.
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Muscle Nerve
; 55(5): 761-765, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27668699
19.
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Neurogenetics
; 17(1): 11-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395884
20.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Am J Hum Genet
; 93(6): 1108-17, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268659