Detalhe da pesquisa
1.
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Hum Mol Genet
; 32(13): 2251-2261, 2023 06 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37043208
2.
Characterization of central manifestations in patients with Niemann-Pick disease type C.
Genet Med
; 26(3): 101053, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38131307
3.
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Mol Genet Metab
; 139(3): 107626, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37354892
4.
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.
Am J Med Genet A
; 191(5): 1325-1338, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36891680
5.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Artigo
Inglês
| MEDLINE | ID: mdl-31597037
6.
Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.
FASEB J
; 35(11): e21955, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34613626
7.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32346159
8.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Hum Mol Genet
; 28(17): 2937-2951, 2019 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31152168
9.
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
Am J Med Genet A
; 185(2): 528-533, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33179441
10.
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Am J Med Genet A
; 185(12): 3770-3783, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34369642
11.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31780822
12.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Genet Med
; 22(10): 1673-1681, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32475988
13.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32033912
14.
Congenital microgastria-limb reduction association: A case report and review of the literature.
Am J Med Genet A
; 182(12): 2976-2981, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32945605
15.
Holoprosencephaly in Kabuki syndrome.
Am J Med Genet A
; 182(3): 441-445, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31846209
16.
Prenatal and perinatal history in Kabuki Syndrome.
Am J Med Genet A
; 182(1): 85-92, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31654559
17.
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
Am J Med Genet A
; 182(4): 640-651, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31883305
18.
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.
J Inherit Metab Dis
; 43(4): 880-890, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32064623
19.
Kabuki syndrome: international consensus diagnostic criteria.
J Med Genet
; 56(2): 89-95, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30514738
20.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30097611