Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genet Med
; 26(4): 101059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158857
3.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740550
4.
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
5.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36477332
6.
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
7.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
8.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
9.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
10.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580112
11.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
12.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
13.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
14.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
15.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
16.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
17.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
18.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Epilepsy Behav
; 126: 108471, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915430
19.
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
20.
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