Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
J Med Genet
; 60(6): 540-546, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600615
3.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
4.
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Hum Mol Genet
; 29(14): 2435-2450, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620954
5.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
6.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
7.
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
Am J Med Genet A
; 188(5): 1396-1406, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35018708
8.
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
Am J Med Genet A
; 188(3): 991-995, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894068
9.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Int J Mol Sci
; 23(15)2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955418
10.
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Hum Mutat
; 42(6): 787-795, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739559
11.
bigSCale: an analytical framework for big-scale single-cell data.
Genome Res
; 28(6): 878-890, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29724792
12.
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
em Inglês
| MEDLINE | ID: mdl-32409512
13.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
J Genet Couns
; 30(3): 693-700, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142000
14.
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
Int J Mol Sci
; 22(16)2021 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445733
15.
Severe brain involvement in 5q spinal muscular atrophy type 0.
Ann Neurol
; 86(3): 458-462, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301241
16.
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
Am J Med Genet A
; 182(11): 2742-2745, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896090
17.
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
J Med Genet
; 56(12): 801-808, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31413120
18.
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.
Am J Hum Genet
; 94(3): 361-72, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24560518
19.
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".
Ann Neurol
; 86(5): 803, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502291
20.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Eur J Hum Genet
; 31(2): 223-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446894