Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
3.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Am J Hum Genet
; 106(1): 92-101, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31866046
4.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
5.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
6.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Genet Med
; 24(6): 1336-1348, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305867
7.
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Clin Chem
; 68(9): 1177-1183, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869940
8.
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Clin Genet
; 101(2): 214-220, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741306
9.
Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.
Mol Med
; 26(1): 117, 2020 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33238891
10.
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Genet Med
; 22(9): 1560-1566, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439973
11.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
12.
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
Am J Med Genet A
; 179(5): 782-791, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848064
13.
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Hum Mutat
; 39(4): 537-549, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29297947
14.
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Hum Mutat
; 38(12): 1774-1785, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940898
15.
Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-Response Behaviors in Model Organisms.
Alcohol Clin Exp Res
; 41(5): 911-928, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28226201
16.
Big Data Strikes Again: Future Utilization of the UK Biobank as a Resource for Clinical Laboratories.
Clin Chem
; 67(7): 932-934, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550402
17.
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
Int J Mol Sci
; 16(4): 7627-43, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25853262
18.
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.
Dev Period Med
; 19(2): 149-56, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26384114
19.
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion.
Case Rep Endocrinol
; 2023: 8658540, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37404330
20.
Ethanol metabolism and osmolarity modify behavioral responses to ethanol in C. elegans.
Alcohol Clin Exp Res
; 36(11): 1840-50, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22486589