Detalhe da pesquisa
1.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
2.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
3.
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
PLoS Genet
; 13(7): e1006905, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742085
4.
Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.
Genet Med
; 21(8): 1821-1826, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626901
5.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Mol Genet Metab
; 127(4): 336-345, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31326288
6.
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
J Hum Genet
; 64(6): 561-572, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858506
7.
Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Neuropediatrics
; 50(2): 96-102, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665247
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.
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Am J Med Genet A
; 173(5): 1309-1318, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371260
10.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
11.
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
12.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178382
13.
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
14.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Genet Med
; 17(7): 561-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25503497
15.
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Mol Genet Metab
; 116(1-2): 29-34, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26296711
16.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981781
17.
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Hepatology
; 57(6): 2171-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22961727
18.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206336
19.
Recurrent pancreatitis in ornithine transcarbamylase deficiency.
Mol Genet Metab
; 106(4): 482-4, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22728053
20.
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
J Child Neurol
; 37(6): 517-523, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384780