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Marcello Scala

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Researcher

University of Genoa

Italy

Research Interests

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Professors in Italy

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Erasmus+ Traineeship

Open Date: 2019-01-01

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Articles (20)

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2026

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Collaborators (36)

Koh-ichi Nagata

Department Head

JAPAN

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carmen barba

Associate Professor

University of Florence

ITALY

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Christiane Zweier

Head

Inselspital Universitätsspital Bern

SWITZERLAND

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Mariasavina Severino

IRCCS Istituto Giannina Gaslini

ITALY

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Bruno Sterlini

Assistant Professor

University of Genoa

ITALY

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Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

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Anu Goenka

The University of Manchester

UNITED KINGDOM

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Isabelle Schrauwen

Columbia University

UNITED STATES

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Andrea Accogli

Medical Geneticist

McGill University

CANADA

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Lenka Noskova

Charles University

CZECH REPUBLIC

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Gianpiero Cavalleri

Professor of Human Genetics

IRELAND

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Sally Ann Lynch

IRELAND

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Marzia Ognibene

Biologist

Istituto Giannina Gaslini

ITALY

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Patrick Chinnery

Professor of Neurology

Newcastle University

UNITED KINGDOM

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Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

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B. Callewaert

Associate Professor

Ghent University

BELGIUM

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William Dobyns

Professor

University of Minnesota

UNITED STATES

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Alessandro Mussa

Deputy Director, Director for Research

Università degli Studi di Torino

ITALY

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roberta battini

University of Pisa

ITALY

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Robert Bryson-Richardson

MONASH UNIVERSITY

AUSTRALIA

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Georg Ramm

MONASH UNIVERSITY

AUSTRALIA

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Kazuhiro Yamakawa

Professor

Nagoya University

JAPAN

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Stefan Wolking

GERMANY

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Hidenori Tabata

Institute for Developmental Research, Aichi Developmental Disability Center

JAPAN

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Nigel Laing

University of Western Australia

AUSTRALIA

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Anthony G. Marson

Personal Chair

University of Liverpool

UNITED KINGDOM

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Cristina Dias

King’s College London

UNITED KINGDOM

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Stanley Nelson

Professor

David Geffen School of Medicine at UCLA

UNITED STATES

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Rita Horvath

University of Cambridge

UNITED KINGDOM

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Alison Rodger

Macquarie University

AUSTRALIA

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Flavio Faletra

Docenti di ruolo di IIa fascia

University of Udine

ITALY

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Magdeldin Elgizouli

University of Zurich

SWITZERLAND

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Mary Green

Deputy Head of Experimental Histopathology

The Francis Crick Institute

UNITED KINGDOM

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Gianina Ravenscroft

University of Western Australia

AUSTRALIA

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Doug Speed

Professor at Aarhus University

Aarhus University

DENMARK

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Marcello Scala

Research Interests

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Recent Grants

Articles (20)

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders

A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis

Genome-wide association meta-analyses of drug-resistant epilepsy

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

Functional Characterization of a Novel Intronic Variant in <i>PIEZO2</i> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker?

A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect

Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.

Collaborators (36)

Koh-ichi Nagata

carmen barba

Christiane Zweier

Mariasavina Severino

Bruno Sterlini

Paul Kuentz

Anu Goenka

Isabelle Schrauwen

Andrea Accogli

Lenka Noskova

Gianpiero Cavalleri

Sally Ann Lynch

Marzia Ognibene

Patrick Chinnery

Manuela Morleo

B. Callewaert

William Dobyns

Alessandro Mussa

roberta battini

Robert Bryson-Richardson

Georg Ramm

Kazuhiro Yamakawa

Stefan Wolking

Hidenori Tabata

Nigel Laing

Siddharth Banka

Anthony G. Marson

Cristina Dias

Stanley Nelson

Rita Horvath

Alison Rodger

Flavio Faletra

Magdeldin Elgizouli

Mary Green

Gianina Ravenscroft

Doug Speed

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