Detalhe da pesquisa
1.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37740550
2.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421105
3.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
J Med Genet
; 61(1): 47-56, 2023 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37495270
4.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36319078
5.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30639323
6.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36197437
7.
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Clin Genet
; 102(1): 72-77, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35347702
8.
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.
Pediatr Dermatol
; 39(3): 434-437, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35258128
9.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Hum Genet
; 140(1): 43-57, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33108537
10.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34345024
11.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34234304
12.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33506510
13.
Performance of diagnostic ultrasound to identify causes of hydramnios.
Prenat Diagn
; 41(1): 111-122, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32920845
14.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32409512
15.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33131162
16.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28132691
17.
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
Clin Genet
; 98(2): 126-137, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32378186
18.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30508070
19.
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
Inglês
| MEDLINE | ID: mdl-30923172
20.
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Hum Genet
; 138(4): 363-374, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30838450