Francesco Benedicenti

Italy

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Articles (20)

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Collaborators (20)

Morten Krogh Herlin

Aarhus University

DENMARK

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Isabelle Audo

Professor

Université Pierre et Marie Curie

FRANCE

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Marcus Breese

University of California, San Francisco

UNITED STATES

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Mark Yarborough

Dean's Professor of Bioethics

University of California Davis School of Medicine

UNITED STATES

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siranoush manoukian

Fondazione IRCCS Istituto Nazionale dei Tumori

ITALY

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Thomy de Ravel

Vrije Universiteit Brussel

BELGIUM

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Delphine Blain

National Eye Institute

UNITED STATES

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Maria Chiara Scaini

Istituto Oncologico Veneto Istituto di Ricovero e Cura a Carattere Scientifico

ITALY

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Ditta Zobor

assistant professor

Semmelweis University

HUNGARY

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Luciano Conti

Associate Professor

University of Trento

ITALY

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Emanuela Leonardi

Assistant Professor

University of Padova

ITALY

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Matthew Mort

Cardiff University

UNITED KINGDOM

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Ilse Meerschaut

University Hospitals Leuven

BELGIUM

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Anne Goriely

University of Oxford

UNITED KINGDOM

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Anastassia Voronova

Assistant Professor

University of Alberta

CANADA

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Xiaoming Liu

UNITED STATES

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Lukas Folkman

Lecturer in Information Technology

Southern Cross University

AUSTRALIA

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MARIO PAGNONI

Catholic University of Rome

ITALY

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Petra Liskova

Charles University in Prague

CZECH REPUBLIC

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Peggy Reuter

institute of biochemistry university of tübingen tübingen germany

GERMANY

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Francesco Benedicenti

Research Interests

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Articles (20)

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Natural history of adults with KBG syndrome

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Atypical cancer risk profile in carriers of Italian founder <scp><i>BRCA1</i></scp> variant p.His1673del: Implications for classification and clinical management

Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients

Olfactory bulb anomalies in KBG syndrome mouse model and patients

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in <i>SZT2</i> Gene

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Natural history of KBG syndrome in a large European cohort

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

Metastatic cylindrocarcinoma in Brooke-Spiegler Syndrome – Report of a case and review of the literature

Metastasierendes Zylindrokarzinom beim Brooke‐Spiegler‐Syndrom ‐ Fallbericht und Literaturübersicht

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

A clinical scoring system for congenital contractural arachnodactyly

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

Corrigendum to: Characterization of intellectual disability and autism comorbidity through gene panel sequencing (Human Mutation, (2019), 40, 9, (1346-1363), 10.1002/humu.23822)

Collaborators (20)

Morten Krogh Herlin

Isabelle Audo

Marcus Breese

Mark Yarborough

siranoush manoukian

Thomy de Ravel

Delphine Blain

Maria Chiara Scaini

Ditta Zobor

Luciano Conti

Emanuela Leonardi

Matthew Mort

Ilse Meerschaut

Anne Goriely

Anastassia Voronova

Xiaoming Liu

Lukas Folkman

MARIO PAGNONI

Petra Liskova

Peggy Reuter

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