Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
2.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
3.
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Am J Med Genet A
; : e63580, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511524
4.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
5.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
6.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
7.
Epilepsy in KBG syndrome.
Dev Med Child Neurol
; 65(5): 712-720, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196002
8.
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
Am J Med Genet C Semin Med Genet
; 190(4): 510-519, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36490374
9.
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
J Hum Genet
; 67(9): 547-551, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581385
10.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Clin Genet
; 102(2): 142-148, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575217
11.
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.
Am J Med Genet A
; 188(8): 2351-2359, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491976
12.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
13.
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Am J Med Genet A
; 188(9): 2796-2802, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689525
14.
Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene.
Cardiol Young
; : 1-3, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593432
15.
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Heart Fail Clin
; 18(1): 19-29, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776080
16.
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(4): 621-630, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290154
17.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990
18.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
19.
Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease.
J Med Virol
; 93(8): 5182-5187, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851733
20.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Clin Genet
; 99(6): 842-848, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33733458