Detalhe da pesquisa
1.
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
J Med Genet
; 61(3): 244-249, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857482
2.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
3.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
4.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424388
5.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Am J Med Genet A
; 194(4): e63479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987117
6.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740550
7.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
8.
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Prenat Diagn
; 44(1): 35-48, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165124
9.
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
J Med Genet
; 60(4): 346-351, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270767
10.
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
11.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
12.
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Clin Genet
; 103(5): 560-565, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453701
13.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
14.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenat Diagn
; 43(6): 746-755, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173814
15.
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
16.
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
17.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Am J Hum Genet
; 104(4): 596-610, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879640
18.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
19.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906476
20.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063350