Detalhe da pesquisa
1.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200388
2.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
3.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429572
4.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
5.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
6.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Genet Med
; 22(6): 1102-1107, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103184
7.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
8.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
9.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
10.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
11.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
12.
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
J Pediatr
; 214: 165-167.e1, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477379
13.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
J Hum Genet
; 63(3): 349-356, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279609
14.
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
J Pediatr
; 190: 130-135, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728811
15.
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Nat Genet
; 39(9): 1127-33, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17704778
16.
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Pediatr Neurol
; 148: 164-171, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734130
17.
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Mol Genet Metab
; 101(2-3): 172-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20675163
18.
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Int J Neonatal Screen
; 6(1): 4, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073003
19.
Multisite Oral Amoxicillin Challenges During Pediatric Emergency Department Visits.
JAMA Pediatr
; 177(12): 1348-1350, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37782486
20.
Late-life depression is not associated with dementia-related pathology.
Neuropsychology
; 30(2): 135-42, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26237627