Detalhe da pesquisa
1.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 405-411, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109420
2.
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Am J Hum Genet
; 101(2): 300-310, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777935
3.
Renpenning syndrome in a female.
Am J Med Genet A
; 182(3): 498-503, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31840929
4.
Exome Sequencing and the Management of Neurometabolic Disorders.
N Engl J Med
; 374(23): 2246-55, 2016 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27276562
5.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Clin Genet
; 95(5): 607-614, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859550
6.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain
; 140(10): 2610-2622, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969385
7.
Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features.
J Cutan Med Surg
; 21(6): 564-567, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28658971
8.
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Mol Genet Metab
; 117(1): 42-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647175
9.
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
10.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am J Hum Genet
; 87(6): 905-14, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129721
11.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672375
12.
Reduction in neural-tube defects after folic acid fortification in Canada.
N Engl J Med
; 357(2): 135-42, 2007 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-17625125
13.
Methylation profiling in individuals with Russell-Silver syndrome.
Am J Med Genet A
; 152A(2): 347-55, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082469
14.
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
BMC Genomics
; 10: 526, 2009 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-19917086
15.
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
Am J Med Genet A
; 149A(11): 2469-78, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842190
16.
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Front Neurol
; 10: 434, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164858
17.
Spina bifida before and after folic acid fortification in Canada.
Birth Defects Res A Clin Mol Teratol
; 82(9): 622-6, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18655127
18.
Impact of folic acid food fortification on the birth prevalence of lipomyelomeningocele in Canada.
Birth Defects Res A Clin Mol Teratol
; 82(2): 106-9, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18050337
19.
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Eur J Med Genet
; 61(5): 257-261, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29278735
20.
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
J Child Neurol
; 33(1): 106-113, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246092