Search details
1.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Genet Med
; 24(1): 51-60, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906459
2.
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
J Hum Genet
; 67(9): 547-551, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35581385
3.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
; 181(1): 171-187, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34232366
4.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32170002
5.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 22(16)2021 Aug 10.
Article
in English
| MEDLINE | ID: mdl-34445317
6.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32203228
7.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31949313
8.
TRIM50 regulates Beclin 1 proautophagic activity.
Biochim Biophys Acta Mol Cell Res
; 1865(6): 908-919, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29604308
9.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Int J Mol Sci
; 19(1)2017 Dec 28.
Article
in English
| MEDLINE | ID: mdl-29283410
10.
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
Clin Genet
; 97(6): 940-942, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32349160
11.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Eur J Hum Genet
; 2024 Mar 25.
Article
in English
| MEDLINE | ID: mdl-38528056
12.
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
J Am Heart Assoc
; 13(3): e031377, 2024 Feb 06.
Article
in English
| MEDLINE | ID: mdl-38293922
13.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Article
in English
| MEDLINE | ID: mdl-37041148
14.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047860
15.
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
Genes (Basel)
; 11(10)2020 10 09.
Article
in English
| MEDLINE | ID: mdl-33050294
16.
Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration.
Cells
; 9(7)2020 07 13.
Article
in English
| MEDLINE | ID: mdl-32668765
17.
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability.
Cancer Lett
; 473: 98-106, 2020 03 31.
Article
in English
| MEDLINE | ID: mdl-31904480
18.
DNA Methylation in the Diagnosis of Monogenic Diseases.
Genes (Basel)
; 11(4)2020 03 26.
Article
in English
| MEDLINE | ID: mdl-32224912
19.
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
Stem Cell Res
; 40: 101547, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31479876
20.
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Eur J Hum Genet
; 27(8): 1260-1266, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30936464