Detalhe da pesquisa
1.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197074
2.
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
Am J Med Genet A
; 191(11): 2743-2748, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37675855
3.
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Brain
; 145(8): 2721-2729, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293990
4.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
5.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905399
6.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
7.
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Am J Med Genet A
; 188(2): 473-487, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668327
8.
Identification of protein quality control regulators using a Drosophila model of TPI deficiency.
Neurobiol Dis
; 152: 105299, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600953
9.
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 185(6): 1848-1853, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683010
10.
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
N Engl J Med
; 386(7): 700-702, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35020984
11.
Expanding the molecular and clinical phenotypes of FUT8-CDG.
J Inherit Metab Dis
; 43(4): 871-879, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32049367
12.
Metabolic Disorders Presenting with Seizures in the Neonatal Period.
Semin Neurol
; 40(2): 219-235, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185789
13.
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Am J Med Genet A
; 179(6): 966-977, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30920161
14.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662
15.
Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide.
Pediatr Rev
; 42(3): 133-146, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33648992
16.
Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.
J AAPOS
; : 103925, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697387
17.
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Orphanet J Rare Dis
; 18(1): 149, 2023 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308910
18.
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Nat Biotechnol
; 40(7): 1035-1041, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35347328
19.
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Genes (Basel)
; 12(12)2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946879
20.
Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder.
Mol Syndromol
; 9(6): 295-299, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30800045