Detalhe da pesquisa
1.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
2.
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
PLoS Genet
; 13(7): e1006905, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742085
3.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
4.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615
5.
Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Neuropediatrics
; 50(2): 96-102, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665247
6.
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
7.
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
Am J Med Genet A
; 170(12): 3165-3171, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480077
8.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
9.
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Am J Med Genet A
; 155A(12): 3002-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065502
10.
A tale of two deletions: a report of two novel 20p13 --> pter deletions.
Am J Med Genet A
; 152A(4): 1000-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358616
11.
Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.
Am J Med Genet A
; 152A(9): 2301-7, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683981
12.
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
Genet Med
; 11(2): 111-7, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19265751
13.
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
J Cell Biol
; 160(1): 41-52, 2003 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-12515823
14.
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Mol Genet Genomic Med
; 7(12): e973, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568715
15.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 16, 2019 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30909959
16.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 12, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819258
17.
Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.
Front Genet
; 9: 54, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29515625
18.
Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.
World J Pediatr
; 13(2): 129-135, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28194692
19.
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
Eur J Hum Genet
; 22(1): 105-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23695283
20.
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.
Eur J Med Genet
; 56(11): 609-13, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24080358