Detalhe da pesquisa
1.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
2.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
3.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Haematologica
; 108(7): 1909-1919, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36519321
4.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35786744
5.
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Int J Mol Sci
; 24(6)2023 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982896
6.
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Hum Mol Genet
; 29(9): 1489-1497, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307552
7.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
8.
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level.
Bioinformatics
; 37(5): 723-725, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32805025
9.
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Haematologica
; 107(1): 260-267, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33472357
10.
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Int J Mol Sci
; 23(21)2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361767
11.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
J Cell Mol Med
; 25(5): 2459-2470, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33476483
12.
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
13.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Blood
; 133(12): 1346-1357, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591527
14.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442900
15.
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.
J Genet Couns
; 30(3): 665-675, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142017
16.
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Int J Mol Sci
; 22(13)2021 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281261
17.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488467
18.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203228
19.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949313
20.
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Clin Genet
; 98(5): 477-485, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32725632