Detalhe da pesquisa
1.
Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.
Genet Med
; : 101173, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38828700
2.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
BMC Neurol
; 24(1): 31, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233770
3.
SETD1B-associated neurodevelopmental disorder.
J Med Genet
; 58(3): 196-204, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32546566
4.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Am J Hum Genet
; 102(1): 175-187, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276005
5.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
6.
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
7.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Am J Hum Genet
; 101(1): 65-74, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28669405
8.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia
; 61(7): e71-e78, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645220
9.
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
10.
Atypical cerebral palsy: genomics analysis enables precision medicine.
Genet Med
; 21(7): 1621-1628, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30542205
11.
Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
J Genet Couns
; 2018 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30033481
12.
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
13.
Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?
Epilepsia
; 56(6): 856-63, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25944453
14.
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
15.
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Front Neurol
; 14: 1148377, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37077564
16.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Res Sq
; 2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609289
17.
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697084
18.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab
; 106(2): e660-e674, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33005949
19.
Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Mol Brain
; 13(1): 50, 2020 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220239
20.
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Mov Disord
; 24(5): 778-82, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19205071