Detalhe da pesquisa
1.
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
2.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740550
3.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
4.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076692
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.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
7.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
8.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
9.
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
Int J Mol Sci
; 24(1)2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613999
10.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
11.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Am J Med Genet A
; 185(8): 2384-2390, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003604
12.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
13.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
14.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
15.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Clin Chem
; 65(9): 1153-1160, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292136
16.
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Am J Med Genet A
; 179(11): 2257-2262, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31390136
17.
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Br J Dermatol
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623710
18.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
19.
Recurrent KIF2A mutations are responsible for classic lissencephaly.
Neurogenetics
; 18(2): 73-79, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27747449
20.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
; 175(4): 417-430, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178447