Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
J Med Genet
; 61(2): 109-116, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734846
3.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
4.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
5.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
6.
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Genet Med
; 23(2): 331-340, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082559
7.
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
8.
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Am J Med Genet A
; 185(7): 2108-2118, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33908178
9.
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
Int J Mol Sci
; 22(7)2021 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33916664
10.
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Am J Med Genet C Semin Med Genet
; 181(4): 509-518, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31643139
11.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
12.
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.
J Med Genet
; 55(2): 131-136, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754700
13.
Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.
Cytogenet Genome Res
; 151(3): 115-118, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28273668
14.
Significant contribution of intragenic deletions to ARID1B mutation spectrum.
Genet Med
; 21(11): 2654-2655, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31105273
15.
Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
BJOG
; 126(11): 1401, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773788
16.
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.
Prenat Diagn
; 39(5): 388-393, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30779209
17.
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
J Bone Miner Res
; 39(3): 287-297, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477767
18.
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Eur J Endocrinol
; 190(2): 151-164, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245004
19.
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.
Eur J Hum Genet
; 31(11): 1337-1341, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670079
20.
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Front Genet
; 13: 875490, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35754802