Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney.
Fetal Pediatr Pathol
; 41(4): 682-688, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960268
3.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547396
4.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
5.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
6.
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Am J Med Genet A
; 185(2): 544-548, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184947
7.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156804
8.
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Hum Mutat
; 39(12): 1875-1884, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157302
9.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(11): 2228, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637969
10.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
11.
MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis.
J Pediatr Gastroenterol Nutr
; 72(1): e22-e24, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32459745
12.
MFSD7c functions as a transporter of choline at the blood-brain barrier.
Cell Res
; 34(3): 245-257, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302740
13.
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
HGG Adv
; 4(3): 100198, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181331
14.
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.
Mol Genet Metab Rep
; 27: 100747, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33854947
15.
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.
CEN Case Rep
; 10(3): 378-382, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502714
16.
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Nat Commun
; 12(1): 833, 2021 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547280
17.
Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW.
Mol Genet Metab Rep
; 1: 61-65, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25302159