Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36669495
2.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35051358
3.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32413283
4.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Am J Hum Genet
; 104(3): 520-529, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30824121
5.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31495489
6.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30471716
7.
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
Mol Psychiatry
; 24(5): 757-771, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29302076
8.
Human RAD50 deficiency: Confirmation of a distinctive phenotype.
Am J Med Genet A
; 182(6): 1378-1386, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32212377
9.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain
; 142(4): 867-884, 2019 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30879067
10.
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
PLoS Genet
; 13(5): e1006809, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28542170
11.
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
PLoS Genet
; 13(8): e1006923, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28763441
12.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Ann Neurol
; 79(2): 244-56, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26528954
13.
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Am J Med Genet A
; 173(6): 1601-1606, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28544736
14.
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Mov Disord
; 31(7): 1041-8, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27090768
15.
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Am J Hum Genet
; 91(3): 533-40, 2012 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-22939636
16.
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
Am J Hum Genet
; 89(2): 265-76, 2011 Aug 12.
Artigo
Inglês
| MEDLINE | ID: mdl-21835305
17.
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
Am J Med Genet A
; 164A(9): 2161-71, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24842779
18.
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Hum Mutat
; 34(5): 706-13, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23418007
19.
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.
Neurogenetics
; 14(1): 43-51, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23224214
20.
Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.
Hum Mol Genet
; 19(21): 4189-200, 2010 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20705735