Search details
1.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4663-4676.e8, 2021 11 18.
Article
in English
| MEDLINE | ID: mdl-34637754
2.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Article
in English
| MEDLINE | ID: mdl-36996813
3.
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Clin Genet
; 2024 Jun 05.
Article
in English
| MEDLINE | ID: mdl-38840272
4.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4757, 2021 Nov 18.
Article
in English
| MEDLINE | ID: mdl-34798045
5.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Article
in English
| MEDLINE | ID: mdl-37185710
6.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Clin Genet
; 104(2): 230-237, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37038048
7.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32816121
8.
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).
J Hum Genet
; 65(12): 1135-1141, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32651480
9.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Hum Mutat
; 40(2): 193-200, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30412329
10.
Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis".
Pediatr Res
; 95(6): 1412-1414, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38245629
11.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
J Med Genet
; 55(4): 269-277, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29378768
12.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-30276538
13.
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
Am J Med Genet A
; 176(9): 1991-1995, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30088855
14.
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
J Pathol
; 243(1): 9-15, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28608987
15.
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Blood Cells Mol Dis
; 64: 38-44, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28376382
16.
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
BMC Med Genet
; 18(1): 147, 2017 12 13.
Article
in English
| MEDLINE | ID: mdl-29237418
17.
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
Clin Genet
; 98(6): 628-629, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33058178
18.
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.
Eur J Hum Genet
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38605125
19.
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.
J Clin Med
; 13(4)2024 Feb 16.
Article
in English
| MEDLINE | ID: mdl-38398422
20.
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes.
Mod Pathol
; 26(10): 1371-81, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23599153