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Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Journal of human genetics, 2020-12, Vol.65 (12), p.1135-1141

2020

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SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

The Journal of pathology, 2017-09, Vol.243 (1), p.9-15

2017

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Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Frontiers in genetics, 2023-09, Vol.14

2023

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Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Frontiers in immunology, 2019-07, Vol.10, p.1685

2019

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Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Human mutation, 2019-02, Vol.40 (2), p.193-200

2019

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PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

Frontiers in physiology, 2019-03, Vol.10, p.258-258

2019

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A Data Fusion Approach to Enhance Association Study in Epilepsy

PloS one, 2016-12, Vol.11 (12), p.e0164940-e0164940

2016

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A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

BMC medical genetics, 2017-12, Vol.18 (1), p.147-8, Article 147

2017

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Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

Journal of clinical medicine, 2024-02, Vol.13 (4), p.1109

2024

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Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence

PloS one, 2012-09, Vol.7 (9), p.e45538-e45538

2012

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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1561-n/a

2021

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Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?

Journal of cancer research and clinical oncology, 2017-10, Vol.143 (10), p.1905-1914

2017

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Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis"

Pediatric research, 2024-05, Vol.95 (6), p.1412-1414

2024

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Author Correction: Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?

Journal of cancer research and clinical oncology, 2018-07, Vol.144 (7), p.1399-1399

2018

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Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

European journal of human genetics : EJHG, 2024-04

2024

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FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome

Cancer genetics, 2021-08, Vol.256-257, p.179-183

2021

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SCN2A and arrhythmia: A potential correlation? A case report and literature review

European journal of medical genetics, 2022-12, Vol.65 (12), p.104639-104639, Article 104639

2022

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Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis

Journal of molecular medicine (Berlin, Germany), 2015-11, Vol.93 (11), p.1271-1281

2015

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Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study

Medicine (Baltimore), 2021-12, Vol.100 (51), p.e28360-e28360

2021

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Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

Clinical genetics, 2024-06

2024

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A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot

Brain & development (Tokyo. 1979), 2023-03, Vol.45 (3), p.179-184

2023

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Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21

Leukemia & lymphoma, 2021-07, Vol.62 (9), p.2276-2279

2021

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An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis

Clinical genetics, 2020-12, Vol.98 (6), p.628-629

2020

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Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

A Data Fusion Approach to Enhance Association Study in Epilepsy

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?

Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis"

Author Correction: Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome

SCN2A and arrhythmia: A potential correlation? A case report and literature review

Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis

Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot

Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21

An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis

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