Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979581
2.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
3.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Hum Mol Genet
; 28(13): 2133-2142, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806661
4.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med
; 23(6): 1116-1124, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568805
5.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988253
6.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Int J Mol Sci
; 22(3)2021 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33530447
7.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043602
8.
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.
Neural Plast
; 2020: 8078103, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32908482
9.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Hum Mutat
; 40(2): 193-200, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412329
10.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190612
11.
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Calcif Tissue Int
; 105(2): 215-221, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129707
12.
Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.
Am J Med Genet A
; 179(1): 71-77, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30422383
13.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244530
14.
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.
Am J Med Genet A
; 173(6): 1649-1655, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407444
15.
Opposite effects on facial morphology due to gene dosage sensitivity.
Hum Genet
; 133(9): 1117-25, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889830
16.
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
Am J Med Genet A
; 164A(3): 828-33, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458984
17.
Growth hormone, gender and face shape in Prader-Willi syndrome.
Am J Med Genet A
; 161A(10): 2453-63, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918156
18.
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.
Front Genet
; 14: 1244983, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37811140
19.
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Eur J Med Genet
; 66(7): 104754, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37003575
20.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292616