Andrea Ciolfi

Affiliations

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

ORCID: http://orcid.org/0000-0002-6191-0978

Publications (71)

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

European journal of human genetics : EJHG

Avec: Elisa Benetti , Rossella Tita , Ottavia Spiga , Andrea Ciolfi , Giovanni Birolo , Alessandro Bruselles , Gabriella Doddato , Annarita Giliberti , Caterina Marconi , Francesco Musacchia , Tommaso Pippucci , Annalaura Torella , Alfonso Trezza , Floriana Valentino , Margherita Baldassarri , Alfredo Brusco , Rosanna Asselta , Mirella Bruttini , Simone Furini , Marco Seri , Vincenzo Nigro , Giuseppe Matullo , Marco Tartaglia , Francesca Mari , Auteur inconnu , Alessandra Renieri , Anna Maria Pinto

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.

Epilepsy & behavior : E&B

Avec: Marina Trivisano , Manuel Rivera , Alessandra Terracciano , Andrea Ciolfi , Antonio Napolitano , Chiara Pepi , Costanza Calabrese , Maria Cristina Digilio , Marco Tartaglia , Paolo Curatolo , Federico Vigevano , Nicola Specchio

Timing for implant placement in patients treated with radiotherapy of head and neck.

La Clinica terapeutica

Avec: S Di Carlo , F De Angelis , A Ciolfi , A Quarato , L Piccoli , G Pompa , E Brauner

Expanding the clinical spectrum associated with PACS2 mutations.

Clinical genetics

Avec: Maria L Dentici , Sabina Barresi , Marcello Niceta , Andrea Ciolfi , Marina Trivisano , Andrea Bartuli , Maria C Digilio , Nicola Specchio , Bruno Dallapiccola , Marco Tartaglia

Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling.

Cancers

Avec: Oscar Lopez-Nunez , Rita Alaggio , Ivy John , Andrea Ciolfi , Lucia Pedace , Angela Mastronuzzi , Francesca Gianno , Felice Giangaspero , Sabrina Rossi , Vittoria Donofrio , Giuseppe Cinalli , Lea F Surrey , Marco Tartaglia , Franco Locatelli , Evelina Miele

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

American journal of human genetics

Avec: Marialetizia Motta , Giulia Fasano , Sina Gredy , Julia Brinkmann , Adeline Alice Bonnard , Pelin Ozlem Simsek-Kiper , Elif Yilmaz Gulec , Leila Essaddam , Gulen Eda Utine , Ingrid Guarnetti Prandi , Martina Venditti , Francesca Pantaleoni , Francesca Clementina Radio , Andrea Ciolfi , Stefania Petrini , Federica Consoli , Cédric Vignal , Denis Hepbasli , Melanie Ullrich , Elke de Boer , Lisenka E L M Vissers , Sami Gritli , Cesare Rossi , Alessandro De Luca , Saayda Ben Becher , Bruce D Gelb , Bruno Dallapiccola , Antonella Lauri , Giovanni Chillemi , Kai Schuh , Hélène Cavé , Martin Zenker , Marco Tartaglia

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying

Genes

Avec: Marco Ferilli , Andrea Ciolfi , Lucia Pedace , Marcello Niceta , Francesca Clementina Radio , Simone Pizzi , Evelina Miele , Camilla Cappelletti , Cecilia Mancini , Tiziana Galluccio , Marco Andreani , Maria Iascone , Luigi Chiriatti , Antonio Novelli , Alessia Micalizzi , Marta Matraxia , Lucia Menale , Flavio Faletra , Paolo Prontera , Alba Pilotta , Maria Francesca Bedeschi , Rossella Capolino , Anwar Baban , Marco Seri , Corrado Mammì , Giuseppe Zampino , Maria Cristina Digilio , Bruno Dallapiccola , Manuela Priolo , Marco Tartaglia

POGZ-related epilepsy: Case report and review of the literature.

American journal of medical genetics. Part A

Avec: Alessandro Ferretti , Sabina Barresi , Marina Trivisano , Andrea Ciolfi , Maria L Dentici , Francesca C Radio , Federico Vigevano , Marco Tartaglia , Nicola Specchio

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Cerebellum (London, England)

Avec: Ginevra Zanni , P De Magistris , M Nardella , E Bellacchio , S Barresi , A Sferra , A Ciolfi , M Motta , H Lue , D Moreno-Andres , M Tartaglia , E Bertini , Wolfram Antonin

Head and Neck Osteosarcoma-The Ongoing Challenge about Reconstruction and Dental Rehabilitation.

Cancers

Avec: Andrea Cassoni , Edoardo Brauner , Resi Pucci , Valentina Terenzi , Nicolò Mangini , Andrea Battisti , Marco Della Monaca , Alessandro Ciolfi , Federico Laudoni , Stefano Di Carlo , Valentino Valentini

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Clinical genetics

Avec: Viviana Cordeddu , Erica L Macke , Francesca Clementina Radio , Stefania Lo Cicero , Francesca Pantaleoni , Massimo Tatti , Emanuele Bellacchio , Andrea Ciolfi , Emanuele Agolini , Alessandro Bruselles , Nicola Brunetti-Pierri , Mohnish Suri , Katherine S Josephs , Meriel McEntagart , Brendan Lanpher , Katherine C Nickels , Andrea Haworth , Laura Reed , Gerarda Cappuccio , Isabella Mammi , Jessica M Tarnowski , Antonio Novelli , Auteur inconnu , Daniela Melis , Bert Callewaert , Bruno Dallapiccola , Eric Klee , Marco Tartaglia

The possible correlation between the chronic esophageal achalasia and periodontal disease - a pilot study.

European review for medical and pharmacological sciences

Avec: S Di Carlo , F De Angelis , E Talocci , M Jedliński , V Talocci , A Ciolfi , E Brauner

SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

Clinical genetics

Avec: Manuela Priolo , Valentina Palermo , Francesca Aiello , Andrea Ciolfi , Luca Pannone , Valentina Muto , Marialetizia Motta , Cecilia Mancini , Francesca Clementina Radio , Marcello Niceta , Chiara Leoni , Letizia Pintomalli , Rosalba Carrozzo , Giuseppe Rajola , Corrado Mammì , Giuseppe Zampino , Simone Martinelli , Bruno Dallapiccola , Pietro Pichierri , Marco Tartaglia

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

European journal of human genetics : EJHG

Avec: Marcello Niceta , Andrea Ciolfi , Marco Ferilli , Lucia Pedace , Camilla Cappelletti , Claudia Nardini , Mathis Hildonen , Luigi Chiriatti , Evelina Miele , Maria Lisa Dentici , Maria Gnazzo , Claudia Cesario , Elisa Pisaneschi , Anwar Baban , Antonio Novelli , Silvia Maitz , Angelo Selicorni , Gabriella Maria Squeo , Giuseppe Merla , Bruno Dallapiccola , Zeynep Tumer , Maria Cristina Digilio , Manuela Priolo , Marco Tartaglia

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.

Nature communications

Avec: Daniela Cesana , Maria Pia Cicalese , Andrea Calabria , Pietro Merli , Roberta Caruso , Monica Volpin , Laura Rudilosso , Maddalena Migliavacca , Federica Barzaghi , Claudia Fossati , Francesco Gazzo , Simone Pizzi , Andrea Ciolfi , Alessandro Bruselles , Francesca Tucci , Giulio Spinozzi , Giulia Pais , Fabrizio Benedicenti , Matteo Barcella , Ivan Merelli , Pierangela Gallina , Stefania Giannelli , Francesca Dionisio , Serena Scala , Miriam Casiraghi , Luisa Strocchio , Luciana Vinti , Lucia Pacillo , Eleonora Draghi , Marcella Cesana , Sara Riccardo , Chiara Colantuono , Emmanuelle Six , Marina Cavazzana , Filippo Carlucci , Manfred Schmidt , Caterina Cancrini , Fabio Ciceri , Luca Vago , Davide Cacchiarelli , Bernhard Gentner , Luigi Naldini , Marco Tartaglia , Eugenio Montini , Franco Locatelli , Alessandro Aiuti

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Richard H van Jaarsveld , Jack Reilly , Marie-Claire Cornips , Michael A Hadders , Emanuele Agolini , Priyanka Ahimaz , Kwame Anyane-Yeboa , Severine Audebert Bellanger , Ellen van Binsbergen , Marie-Jose van den Boogaard , Elise Brischoux-Boucher , Raymond C Caylor , Andrea Ciolfi , Ton A J van Essen , Paolo Fontana , Saskia Hopman , Maria Iascone , Margaret M Javier , Erik-Jan Kamsteeg , Jennifer Kerkhof , Jun Kido , Hyung-Goo Kim , Tjitske Kleefstra , Fortunato Lonardo , Abbe Lai , Dorit Lev , Michael A Levy , M E Suzanne Lewis , Angie Lichty , Marcel M A M Mannens , Naomichi Matsumoto , Idit Maya , Haley McConkey , Andre Megarbane , Vincent Michaud , Evelina Miele , Marcello Niceta , Antonio Novelli , Roberta Onesimo , Rolph Pfundt , Bernt Popp , Eloise Prijoles , Raissa Relator , Sylvia Redon , Dmitrijs Rots , Karen Rouault , Ken Saida , Jolanda Schieving , Marco Tartaglia , Romano Tenconi , Kevin Uguen , Nienke Verbeek , Christopher A Walsh , Keren Yosovich , Christopher J Yuskaitis , Giuseppe Zampino , Bekim Sadikovic , Mariëlle Alders , Renske Oegema

Adult-onset KMT2B-related dystonia.

Brain communications

Avec: Edoardo Monfrini , Andrea Ciolfi , Francesco Cavallieri , Marco Ferilli , Paola Soliveri , Lucia Pedace , Roberto Erro , Francesca Del Sorbo , Franco Valzania , Valentina Fioravanti , Giovanni Cossu , Maria Pellegrini , Leonardo Salviati , Federica Invernizzi , Valentina Oppo , Daniela Murgia , Bruno Giometto , Marina Picillo , Barbara Garavaglia , Francesca Morgante , Marco Tartaglia , Miryam Carecchio , Alessio Di Fonzo

Identification of a robust DNA methylation signature for Fanconi anemia.

American journal of human genetics

Avec: Daria Pagliara , Andrea Ciolfi , Lucia Pedace , Sadegheh Haghshenas , Marco Ferilli , Michael A Levy , Evelina Miele , Claudia Nardini , Camilla Cappelletti , Raissa Relator , Angela Pitisci , Rita De Vito , Simone Pizzi , Jennifer Kerkhof , Haley McConkey , Francesca Nazio , Sarina G Kant , Maddalena Di Donato , Emanuele Agolini , Marta Matraxia , Barbara Pasini , Alessandra Pelle , Tiziana Galluccio , Antonio Novelli , Tahsin Stefan Barakat , Marco Andreani , Francesca Rossi , Cristina Mecucci , Anna Savoia , Bekim Sadikovic , Franco Locatelli , Marco Tartaglia

Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.

Journal of the American Society of Nephrology : JASN

Avec: Francesco Bellomo , Sara Pugliese , Sara Cairoli , Patrick Krohn , Cristiano De Stefanis , Roberto Raso , Laura Rita Rega , Anna Taranta , Ester De Leo , Andrea Ciolfi , Nicolò Cicolani , Stefania Petrini , Alessandro Luciani , Bianca Maria Goffredo , Ottavia Porzio , Olivier Devuyst , Carlo Dionisi-Vici , Francesco Emma

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology

Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

A New Medical Record Proposal to the Prognostic Risk Assessment for MRONJ in Oncologic Patients: "Sapienza Head and Neck Unit" Proposal.

International journal of environmental research and public health

Avec: Edoardo Brauner , Silvia Mezi , Alessandro Ciolfi , Chiara Ciolfi , Resi Pucci , Andrea Cassoni , Andrea Battisti , Gabriele Piesco , Francesca De Felice , Nicola Pranno , Matteo Armida , Francesca De Angelis , Umberto Romeo , Mauro Capocci , Gianluca Tenore , Vincenzo Tombolini , Valentino Valentini , Livia Ottolenghi , Antonella Polimeni , Stefano Di Carlo

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

American journal of human genetics

Avec: Catherine Rodger , Elisabetta Flex , Rachel J Allison , Alba Sanchis-Juan , Marcia A Hasenahuer , Serena Cecchetti , Courtney E French , James R Edgar , Giovanna Carpentieri , Andrea Ciolfi , Francesca Pantaleoni , Alessandro Bruselles , Auteur inconnu , Roberta Onesimo , Giuseppe Zampino , Francesca Marcon , Ester Siniscalchi , Melissa Lees , Deepa Krishnakumar , Emma McCann , Dragana Yosifova , Joanna Jarvis , Michael C Kruer , Warren Marks , Jonathan Campbell , Louise E Allen , Stefano Gustincich , F Lucy Raymond , Marco Tartaglia , Evan Reid

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

European journal of medical genetics

Avec: Marcello Niceta , Sabina Barresi , Francesca Pantaleoni , Rossella Capolino , Maria Lisa Dentici , Andrea Ciolfi , Simone Pizzi , Andrea Bartuli , Bruno Dallapiccola , Marco Tartaglia , Maria Cristina Digilio

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

American journal of human genetics

Avec: Richard J Holt , Rodrigo M Young , Berta Crespo , Fabiola Ceroni , Cynthia J Curry , Emanuele Bellacchio , Dorine A Bax , Andrea Ciolfi , Marleen Simon , Christina R Fagerberg , Ellen van Binsbergen , Alessandro De Luca , Luigi Memo , William B Dobyns , Alaa Afif Mohammed , Samuel J H Clokie , Celia Zazo Seco , Yong-Hui Jiang , Kristina P Sørensen , Helle Andersen , Jennifer Sullivan , Zöe Powis , Anna Chassevent , Constance Smith-Hicks , Slavé Petrovski , Thalia Antoniadi , Vandana Shashi , Bruce D Gelb , Stephen W Wilson , Dianne Gerrelli , Marco Tartaglia , Nicolas Chassaing , Patrick Calvas , Nicola K Ragge

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.

Human mutation

Avec: Diana Carli , Elisa Giorgio , Francesca Pantaleoni , Alessandro Bruselles , Sabina Barresi , Evelise Riberi , Francesco Licciardi , Andrea Gazzin , Giuseppina Baldassarre , Simone Pizzi , Marcello Niceta , Francesca C Radio , Cristina Molinatto , Davide Montin , Pier L Calvo , Andrea Ciolfi , Nicole Fleischer , Giovanni B Ferrero , Alfredo Brusco , Marco Tartaglia

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Cerebellum (London, England)

Avec: Ginevra Zanni , P De Magistris , M Nardella , E Bellacchio , S Barresi , A Sferra , A Ciolfi , M Motta , H Lue , D Moreno-Andres , M Tartaglia , E Bertini , Wolfram Antonin

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

Parkinsonism & related disorders

Avec: Simone Martinelli , Viviana Cordeddu , Serena Galosi , Ambra Lanzo , Eleonora Palma , Luca Pannone , Andrea Ciolfi , Michela Di Nottia , Teresa Rizza , Gianfranco Bocchinfuso , Alice Traversa , Viviana Caputo , Andrea Farrotti , Claudia Carducci , Laura Bernardini , Susanna Cogo , Maria Paglione , Martina Venditti , Annarita Bentivoglio , Joanne Ng , Manju A Kurian , Laura Civiero , Elisa Greggio , Lorenzo Stella , Flavia Trettel , Miriam Sciaccaluga , Cristina Roseti , Rosalba Carrozzo , Sergio Fucile , Cristina Limatola , Elia Di Schiavi , Marco Tartaglia , Vincenzo Leuzzi

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in

Genes

Avec: Elisabetta Flex , Valentina Imperatore , Giovanna Carpentieri , Alessandro Bruselles , Andrea Ciolfi , Simone Pizzi , Maria Giovanna Tedesco , Daniela Rogaia , Amedea Mencarelli , Giuseppe Di Cara , Alberto Verrotti , Stefania Troiani , Giuseppe Merla , Marco Tartaglia , Paolo Prontera

DICER1-associated malignancies mimicking germ cell neoplasms: Report of two cases and review of the literature.

Pathology, research and practice

Avec: Sabrina Rossi , Sabina Barresi , Alessandra Stracuzzi , Oscar Lopez-Nunez , Stefano Chiaravalli , Andrea Ferrari , Andrea Ciolfi , Giuseppe Maria Milano , Isabella Giovannoni , Marco Tartaglia , Evelina Miele , Rita Alaggio

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics

Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.

Journal of clinical immunology

Avec: Antonio Marzollo , Francesca Conti , Linda Rossini , Beatrice Rivalta , Lucia Leonardi , Caterina Tretti , Francesca Tosato , Maria Chiriaco , Giorgiana Madalina Ursu , Cristina Tea Natalucci , Maddalena Martella , Alessandro Borghesi , Cecilia Mancini , Andrea Ciolfi , Gigliola di Matteo , Marco Tartaglia , Caterina Cancrini , Andrea Dotta , Alessandra Biffi , Andrea Finocchi , Silvia Bresolin

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Human mutation

Avec: Michael A Levy , Raissa Relator , Haley McConkey , Erinija Pranckeviciene , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Marco Ferilli , Robin S Fletcher , Florian Cherick , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie R Pallares , Maria Piccione , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella M Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce B Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , Dominique Campion , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Delphine Heron , Thomas Husson , Kristin D Kernohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Marie Vincent , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Biallelic Inactivating

International journal of molecular sciences

Avec: Lucia Ziccardi , Marcello Niceta , Emilia Stellacci , Andrea Ciolfi , Massimo Tatti , Alessandro Bruselles , Cecilia Mancini , Lucilla Barbano , Serena Cecchetti , Eliana Costanzo , Marco Cappa , Mariacristina Parravano , Monica Varano , Marco Tartaglia , Viviana Cordeddu

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti , Siddharth Banka , Ange-Line Bruel , Andrea Ciolfi , Jill Clayton-Smith , Bruno Dallapiccola , Yannis Duffourd , Kornelia Ellwanger , Chiara Fallerini , Christian Gilissen , Holm Graessner , Tobias B Haack , Marketa Havlovicova , Alexander Hoischen , Nolwenn Jean-Marçais , Tjitske Kleefstra , Estrella López-Martín , Milan Macek , Maria Antonietta Mencarelli , Sébastien Moutton , Rolph Pfundt , Simone Pizzi , Manuel Posada , Francesca Clementina Radio , Alessandra Renieri , Caroline Rooryck , Lukas Ryba , Hana Safraou , Martin Schwarz , Marco Tartaglia , Christel Thauvin-Robinet , Julien Thevenon , Frédéric Tran Mau-Them , Aurélien Trimouille , Pavel Votypka , Bert B A de Vries , Marjolein H Willemsen , Birte Zurek , Alain Verloes , Christophe Philippe , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Antonio Vitobello , Lisenka E L M Vissers , Laurence Faivre

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

European journal of human genetics : EJHG

Avec: Manuela Priolo , Erika Zara , Francesca Clementina Radio , Andrea Ciolfi , Francesca Spadaro , Emanuele Bellacchio , Cecilia Mancini , Francesca Pantaleoni , Viviana Cordeddu , Luigi Chiriatti , Marcello Niceta , Emilio Africa , Corrado Mammì , Daniela Melis , Simona Coppola , Marco Tartaglia

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

Frontiers in immunology

Avec: Maria Chiriaco , Giorgiana Madalina Ursu , Donato Amodio , Nicola Cotugno , Stefano Volpi , Francesco Berardinelli , Simone Pizzi , Cristina Cifaldi , Matteo Zoccolillo , Ignazia Prigione , Silvia Di Cesare , Carmela Giancotta , Elisa Anastasio , Beatrice Rivalta , Lucia Pacillo , Paola Zangari , Alessandro G Fiocchi , Andrea Diociaiuti , Alessandro Bruselles , Francesca Pantaleoni , Andrea Ciolfi , Valentina D'Oria , Giuseppe Palumbo , Marco Gattorno , Maya El Hachem , Jean-Pierre de Villartay , Andrea Finocchi , Paolo Palma , Paolo Rossi , Marco Tartaglia , Alessandro Aiuti , Antonio Antoccia , Gigliola Di Matteo , Caterina Cancrini

Loss-of-function variants in

medRxiv : the preprint server for health sciences

Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.

Clinical epigenetics

Avec: Sara Patrizi , Evelina Miele , Lorenza Falcone , Silvia Vallese , Sabrina Rossi , Sabina Barresi , Isabella Giovannoni , Lucia Pedace , Claudia Nardini , Ilaria Masier , Luana Abballe , Antonella Cacchione , Ida Russo , Angela Di Giannatale , Valentina Di Ruscio , Claudia Maria Salgado , Angela Mastronuzzi , Andrea Ciolfi , Marco Tartaglia , Giuseppe Maria Milano , Franco Locatelli , Rita Alaggio

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Clinical epigenetics

Avec: Andrea Ciolfi , Erfan Aref-Eshghi , Simone Pizzi , Lucia Pedace , Evelina Miele , Jennifer Kerkhof , Elisabetta Flex , Simone Martinelli , Francesca Clementina Radio , Claudia A L Ruivenkamp , Gijs W E Santen , Emilia Bijlsma , Daniela Barge-Schaapveld , Katrin Ounap , Victoria Mok Siu , R Frank Kooy , Bruno Dallapiccola , Bekim Sadikovic , Marco Tartaglia

Modeling medulloblastoma in vivo and with human cerebellar organoids.

Nature communications

Avec: Claudio Ballabio , Marica Anderle , Matteo Gianesello , Chiara Lago , Evelina Miele , Marina Cardano , Giuseppe Aiello , Silvano Piazza , Davide Caron , Francesca Gianno , Andrea Ciolfi , Lucia Pedace , Angela Mastronuzzi , Marco Tartaglia , Franco Locatelli , Elisabetta Ferretti , Felice Giangaspero , Luca Tiberi

DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (

International journal of molecular sciences

Avec: Evelina Miele , Rita De Vito , Andrea Ciolfi , Lucia Pedace , Ida Russo , Maria Debora De Pasquale , Angela Di Giannatale , Alessandro Crocoli , Biagio De Angelis , Marco Tartaglia , Rita Alaggio , Giuseppe Maria Milano

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

BMC pediatrics

Avec: Marcello Niceta , Maria Lisa Dentici , Andrea Ciolfi , Romana Marini , Sabina Barresi , Francesca Romana Lepri , Antonio Novelli , Enrico Bertini , Marco Cappa , Maria Cristina Digilio , Bruno Dallapiccola , Marco Tartaglia

Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review.

Frontiers in genetics

Avec: Giuseppe Petruzzellis , Iside Alessi , Giovanna Stefania Colafati , Francesca Diomedi-Camassei , Andrea Ciolfi , Lucia Pedace , Antonella Cacchione , Andrea Carai , Marco Tartaglia , Angela Mastronuzzi , Evelina Miele

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

Pediatric neurology

Avec: Sabina Barresi , Maria Lisa Dentici , Francesca Manzoni , Emanuele Bellacchio , Emanuele Agolini , Simone Pizzi , Andrea Ciolfi , Mark Tarnopolsky , Lauren Brady , Giacomo Garone , Antonio Novelli , Davide Mei , Renzo Guerrini , Alessandro Capuano , Chiara Pantaleoni , Marco Tartaglia

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG advances

Avec: Michael A Levy , Haley McConkey , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Robin S Fletcher , Florian Cherik , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie Ruiz Pallares , Maria Piccione , Simone Pizzi , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Raissa Relator , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella Maria Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Kristin D Kerrnohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Implant placement in oral squamous cells carcinoma patients treated with chemoradiotherapy: "Sapienza Head and Neck Unit" clinical recommendations.

European review for medical and pharmacological sciences

Avec: E Brauner , D Musio , S Mezi , A Ciolfi , F Maghella , A Cassoni , F De Angelis , G Guarino , U Romeo , G Tenore , G Piesco , F De Felice , V Tombolini , V Valentini , A Polimeni , S Di Carlo

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl

American journal of human genetics

Avec: Maya M Polovitskaya , Carlo Barbini , Diego Martinelli , Frederike L Harms , F Sessions Cole , Paolo Calligari , Gianfranco Bocchinfuso , Lorenzo Stella , Andrea Ciolfi , Marcello Niceta , Teresa Rizza , Marwan Shinawi , Kathleen Sisco , Jessika Johannsen , Jonas Denecke , Rosalba Carrozzo , Daniel J Wegner , Kerstin Kutsche , Marco Tartaglia , Thomas J Jentsch

Functional analysis of

Journal of medical genetics

Avec: Lisa Pavinato , Marina Villamor-Payà , Maria Sanchiz-Calvo , Cristina Andreoli , Marina Gay , Marta Vilaseca , Gianluca Arauz-Garofalo , Andrea Ciolfi , Alessandro Bruselles , Tommaso Pippucci , Valentina Prota , Diana Carli , Elisa Giorgio , Francesca Clementina Radio , Vincenzo Antona , Mario Giuffrè , Kara Ranguin , Cindy Colson , Silvia De Rubeis , Paola Dimartino , Joseph D Buxbaum , Giovanni Battista Ferrero , Marco Tartaglia , Simone Martinelli , Travis H Stracker , Alfredo Brusco

Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.

American journal of medical genetics. Part A

Avec: Chiara Leoni , Marta Tedesco , Francesca Clementina Radio , Giovanni Chillemi , Antonio Leone , Alessandro Bruselles , Andrea Ciolfi , Emilia Stellacci , Francesca Pantaleoni , Gianfranco Butera , Donato Rigante , Roberta Onesimo , Marco Tartaglia , Giuseppe Zampino

A Retrospective Analysis of Treatment Outcomes Following Guided Bone Regeneration at Sites Exhibiting Severe Alveolar Ridge Atrophy.

The Journal of craniofacial surgery

Avec: Stefano Di Carlo , Alessandro Ciolfi , Elena Grasso , Nicola Pranno , Francesca De Angelis , Cira Di Gioia , Maciej Jedliński , Andrea Tornese , Paolo Lomelo , Edoardo Brauner

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for

International journal of molecular sciences

Avec: Aidin Foroutan , Sadegheh Haghshenas , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Marcello Niceta , Andrea Ciolfi , Lucia Pedace , Evelina Miele , David Genevieve , Solveig Heide , Mariëlle Alders , Giuseppe Zampino , Giuseppe Merla , Mélanie Fradin , Eric Bieth , Dominique Bonneau , Klaus Dieterich , Patricia Fergelot , Elise Schaefer , Laurence Faivre , Antonio Vitobello , Silvia Maitz , Rita Fischetto , Cristina Gervasini , Maria Piccione , Ingrid van de Laar , Marco Tartaglia , Bekim Sadikovic , Anne-Sophie Lebre

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

American journal of human genetics

Avec: Vincenzo Salpietro , Reza Maroofian , Maha S Zaki , Jamie Wangen , Andrea Ciolfi , Sabina Barresi , Stephanie Efthymiou , Angelique Lamaze , Gabriel N Aughey , Fuad Al Mutairi , Aboulfazl Rad , Clarissa Rocca , Elisa Calì , Andrea Accogli , Federico Zara , Pasquale Striano , Majid Mojarrad , Huma Tariq , Edoardo Giacopuzzi , Jenny C Taylor , Gabriela Oprea , Volha Skrahina , Khalil Ur Rehman , Marwa Abd Elmaksoud , Mahmoud Bassiony , Huda G El Said , Mohamed S Abdel-Hamid , Maha Al Shalan , Gohun Seo , Sohyun Kim , Hane Lee , Rin Khang , Mahmoud Y Issa , Hasnaa M Elbendary , Karima Rafat , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Athina Ververi , Mara Sourmpi , Atieh Eslahi , Farhad Khadivi Zand , Mehran Beiraghi Toosi , Meisam Babaei , Adam Jackson , Auteur inconnu , Aida Bertoli-Avella , Alistair T Pagnamenta , Marcello Niceta , Roberta Battini , Antonio Corsello , Chiara Leoni , Francesco Chiarelli , Bruno Dallapiccola , Eissa Ali Faqeih , Krishnaraya K Tallur , Majid Alfadhel , Eman Alobeid , Sateesh Maddirevula , Kshitij Mankad , Siddharth Banka , Ehsan Ghayoor-Karimiani , Marco Tartaglia , Wendy K Chung , Rachel Green , Fowzan S Alkuraya , James E C Jepson , Henry Houlden

DNA methylation signature classification of rare disorders using publicly available methylation data.

Clinical genetics

Avec: Mathis Hildonen , Marco Ferilli , Tina Duelund Hjortshøj , Morten Dunø , Lotte Risom , Mads Bak , Jakob Ek , Rikke S Møller , Andrea Ciolfi , Marco Tartaglia , Zeynep Tümer

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

Nature communications

Avec: Uirá Souto Melo , Jerome Jatzlau , Cesar A Prada-Medina , Elisabetta Flex , Sunhild Hartmann , Salaheddine Ali , Robert Schöpflin , Laura Bernardini , Andrea Ciolfi , M-Hossein Moeinzadeh , Marius-Konstantin Klever , Aybuge Altay , Pedro Vallecillo-García , Giovanna Carpentieri , Massimo Delledonne , Melanie-Jasmin Ort , Marko Schwestka , Giovanni Battista Ferrero , Marco Tartaglia , Alfredo Brusco , Manfred Gossen , Dirk Strunk , Sven Geißler , Stefan Mundlos , Sigmar Stricker , Petra Knaus , Elisa Giorgio , Malte Spielmann

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

European journal of human genetics : EJHG

Avec: Maria Lisa Dentici , Marcello Niceta , Francesca Romana Lepri , Cecilia Mancini , Manuela Priolo , Adeline Alice Bonnard , Camilla Cappelletti , Chiara Leoni , Andrea Ciolfi , Simone Pizzi , Viviana Cordeddu , Cesare Rossi , Marco Ferilli , Mafalda Mucciolo , Vito Luigi Colona , Christine Fauth , Melissa Bellini , Giacomo Biasucci , Lorenzo Sinibaldi , Silvana Briuglia , Andrea Gazzin , Diana Carli , Luigi Memo , Eva Trevisson , Concetta Schiavariello , Maria Luca , Antonio Novelli , Caroline Michot , Anne Sweertvaegher , David Germanaud , Emanuela Scarano , Alessandro De Luca , Giuseppe Zampino , Martin Zenker , Alessandro Mussa , Bruno Dallapiccola , Helene Cavé , Maria Cristina Digilio , Marco Tartaglia

Brain malformations and seizures by impaired chaperonin function of TRiC.

Science (New York, N.Y.)

Avec: Florian Kraft , Piere Rodriguez-Aliaga , Weimin Yuan , Lena Franken , Kamil Zajt , Dimah Hasan , Ting-Ting Lee , Elisabetta Flex , Andreas Hentschel , A Micheil Innes , Bixia Zheng , Dong Sun Julia Suh , Cordula Knopp , Eva Lausberg , Jeremias Krause , Xiaomeng Zhang , Pamela Trapane , Riley Carroll , Martin McClatchey , Andrew E Fry , Lisa Wang , Sebastian Giesselmann , Hieu Hoang , Dustin Baldridge , Gary A Silverman , Francesca Clementina Radio , Enrico Bertini , Andrea Ciolfi , Katherine A Blood , Jean-Madeleine de Sainte Agathe , Perrine Charles , Gaber Bergant , Goran Čuturilo , Borut Peterlin , Karin Diderich , Haley Streff , Laurie Robak , Renske Oegema , Ellen van Binsbergen , John Herriges , Carol J Saunders , Andrea Maier , Stefan Wolking , Yvonne Weber , Hanns Lochmüller , Stefanie Meyer , Alberto Aleman , Kiran Polavarapu , Gael Nicolas , Alice Goldenberg , Lucie Guyant , Kathleen Pope , Katherine N Hehmeyer , Kristin G Monaghan , Annegret Quade , Thomas Smol , Roseline Caumes , Sarah Duerinckx , Chantal Depondt , Wim Van Paesschen , Claudine Rieubland , Claudia Poloni , Michel Guipponi , Severine Arcioni , Marije Meuwissen , Anna C Jansen , Jessica Rosenblum , Tobias B Haack , Miriam Bertrand , Lea Gerstner , Janine Magg , Olaf Riess , Jörg B Schulz , Norbert Wagner , Martin Wiesmann , Joachim Weis , Thomas Eggermann , Matthias Begemann , Andreas Roos , Martin Häusler , Tim Schedl , Marco Tartaglia , Juliane Bremer , Stephen C Pak , Judith Frydman , Miriam Elbracht , Ingo Kurth

CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T-cells.

Haematologica

Avec: Marika Guercio , Domenico Orlando , Stefano Di Cecca , Matilde Sinibaldi , Iolanda Boffa , Simona Caruso , Zeinab Abbaszadeh , Antonio Camera , Biancamaria Cembrola , Katia Bovetti , Simona Manni , Ignazio Caruana , Roselia Ciccone , Francesca Del Bufalo , Pietro Merli , Luciana Vinti , Katia Girardi , Annalisa Ruggeri , Cristiano De Stefanis , Marco Pezzullo , Ezio Giorda , Marco Scarsella , Rita De Vito , Sabina Barresi , Andrea Ciolfi , Marco Tartaglia , Lorenzo Moretta , Franco Locatelli , Concetta Quintarelli , Biagio De Angelis

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

American journal of human genetics

Avec: Marialetizia Motta , Luca Pannone , Francesca Pantaleoni , Gianfranco Bocchinfuso , Francesca Clementina Radio , Serena Cecchetti , Andrea Ciolfi , Martina Di Rocco , Mariet W Elting , Eva H Brilstra , Stefania Boni , Laura Mazzanti , Federica Tamburrino , Larry Walsh , Katelyn Payne , Alberto Fernández-Jaén , Mythily Ganapathi , Wendy K Chung , Dorothy K Grange , Ashita Dave-Wala , Shalini C Reshmi , Dennis W Bartholomew , Danielle Mouhlas , Giovanna Carpentieri , Alessandro Bruselles , Simone Pizzi , Emanuele Bellacchio , Francesca Piceci-Sparascio , Christina Lißewski , Julia Brinkmann , Ronald R Waclaw , Quinten Waisfisz , Koen van Gassen , Ingrid M Wentzensen , Michelle M Morrow , Sara Álvarez , Mónica Martínez-García , Alessandro De Luca , Luigi Memo , Giuseppe Zampino , Cesare Rossi , Marco Seri , Bruce D Gelb , Martin Zenker , Bruno Dallapiccola , Lorenzo Stella , Carlos E Prada , Simone Martinelli , Elisabetta Flex , Marco Tartaglia

Use of Porous Implants for the Prosthetic Rehabilitation of Fibula Free Flap Reconstructed Patients.

The Journal of craniofacial surgery

Avec: Edoardo Brauner , Stefano Di Carlo , Alessandro Ciolfi , Giorgio Pompa , Sara Jamshir , Francesca De Angelis , Marco Della Monaca , Valentino Valentini

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

American journal of human genetics

Avec: Thi Tuyet Mai Nguyen , Yoshiko Murakami , Sabrina Mobilio , Marcello Niceta , Giuseppe Zampino , Christophe Philippe , Sébastien Moutton , Maha S Zaki , Kiely N James , Damir Musaev , Weiyi Mu , Kristin Baranano , Jessica R Nance , Jill A Rosenfeld , Nancy Braverman , Andrea Ciolfi , Francisca Millan , Richard E Person , Ange-Line Bruel , Christel Thauvin-Robinet , Athina Ververi , Catherine DeVile , Alison Male , Stephanie Efthymiou , Reza Maroofian , Henry Houlden , Shazia Maqbool , Fatima Rahman , Nissan V Baratang , Justine Rousseau , Anik St-Denis , Matthew J Elrick , Irina Anselm , Lance H Rodan , Marco Tartaglia , Joseph Gleeson , Taroh Kinoshita , Philippe M Campeau

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics

Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

American journal of human genetics

Avec: Elisabetta Flex , Simone Martinelli , Anke Van Dijck , Andrea Ciolfi , Serena Cecchetti , Elisa Coluzzi , Luca Pannone , Cristina Andreoli , Francesca Clementina Radio , Simone Pizzi , Giovanna Carpentieri , Alessandro Bruselles , Giuseppina Catanzaro , Lucia Pedace , Evelina Miele , Elena Carcarino , Xiaoyan Ge , Chieko Chijiwa , M E Suzanne Lewis , Marije Meuwissen , Sandra Kenis , Nathalie Van der Aa , Austin Larson , Kathleen Brown , Melissa P Wasserstein , Brian G Skotko , Amber Begtrup , Richard Person , Maria Karayiorgou , J Louw Roos , Koen L Van Gassen , Marije Koopmans , Emilia K Bijlsma , Gijs W E Santen , Daniela Q C M Barge-Schaapveld , Claudia A L Ruivenkamp , Mariette J V Hoffer , Seema R Lalani , Haley Streff , William J Craigen , Brett H Graham , Annette P M van den Elzen , Daan J Kamphuis , Katrin Õunap , Karit Reinson , Sander Pajusalu , Monica H Wojcik , Clara Viberti , Cornelia Di Gaetano , Enrico Bertini , Simona Petrucci , Alessandro De Luca , Rossella Rota , Elisabetta Ferretti , Giuseppe Matullo , Bruno Dallapiccola , Antonella Sgura , Magdalena Walkiewicz , R Frank Kooy , Marco Tartaglia

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

The Journal of experimental medicine

Avec: Michael T Lam , Simona Coppola , Oliver H F Krumbach , Giusi Prencipe , Antonella Insalaco , Cristina Cifaldi , Immacolata Brigida , Erika Zara , Serena Scala , Silvia Di Cesare , Simone Martinelli , Martina Di Rocco , Antonia Pascarella , Marcello Niceta , Francesca Pantaleoni , Andrea Ciolfi , Petra Netter , Alexandre F Carisey , Michael Diehl , Mohammad Akbarzadeh , Francesca Conti , Pietro Merli , Anna Pastore , Stefano Levi Mortera , Serena Camerini , Luciapia Farina , Marcel Buchholzer , Luca Pannone , Tram N Cao , Zeynep H Coban-Akdemir , Shalini N Jhangiani , Donna M Muzny , Richard A Gibbs , Luca Basso-Ricci , Maria Chiriaco , Radovan Dvorsky , Lorenza Putignani , Rita Carsetti , Petra Janning , Asbjorg Stray-Pedersen , Hans Christian Erichsen , AnnaCarin Horne , Yenan T Bryceson , Lamberto Torralba-Raga , Kim Ramme , Vittorio Rosti , Claudia Bracaglia , Virginia Messia , Paolo Palma , Andrea Finocchi , Franco Locatelli , Ivan K Chinn , James R Lupski , Emily M Mace , Caterina Cancrini , Alessandro Aiuti , Mohammad R Ahmadian , Jordan S Orange , Fabrizio De Benedetti , Marco Tartaglia

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell death & disease

Avec: Ludovica Grassi , Romina Alfonsi , Federica Francescangeli , Michele Signore , Maria Laura De Angelis , Antonio Addario , Manuela Costantini , Elisabetta Flex , Andrea Ciolfi , Simone Pizzi , Alessandro Bruselles , Matteo Pallocca , Giuseppe Simone , Mustapha Haoui , Mario Falchi , Michele Milella , Steno Sentinelli , Paola Di Matteo , Emilia Stellacci , Michele Gallucci , Giovanni Muto , Marco Tartaglia , Ruggero De Maria , Désirée Bonci

Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.

Brain pathology (Zurich, Switzerland)

Avec: Sabrina Rossi , Sabina Barresi , Isabella Giovannoni , Viola Alesi , Andrea Ciolfi , Giovanna Stefania Colafati , Francesca Diomedi-Camassei , Evelina Miele , Antonella Cacchione , Denise Quacquarini , Andrea Carai , Marco Tartaglia , Caterina Giannini , Felice Giangaspero , Angela Mastronuzzi , Rita Alaggio

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

American journal of human genetics

Avec: Yuh-Charn Lin , Marcello Niceta , Valentina Muto , Barbara Vona , Alistair T Pagnamenta , Reza Maroofian , Christian Beetz , Hermine van Duyvenvoorde , Maria Lisa Dentici , Peter Lauffer , Sadeq Vallian , Andrea Ciolfi , Simone Pizzi , Peter Bauer , Nana-Maria Grüning , Emanuele Bellacchio , Andrea Del Fattore , Stefania Petrini , Ranad Shaheen , Dov Tiosano , Rana Halloun , Ben Pode-Shakked , Hatice Mutlu Albayrak , Emregül Işık , Jan M Wit , Marcus Dittrich , Bruna L Freire , Debora R Bertola , Alexander A L Jorge , Ortal Barel , Ataf H Sabir , Amal M J Al Tenaiji , Sulaima M Taji , Nouriya Al-Sannaa , Hind Al-Abdulwahed , Maria Cristina Digilio , Melita Irving , Yair Anikster , Gandham S L Bhavani , Katta M Girisha , Auteur inconnu , Thomas Haaf , Jenny C Taylor , Bruno Dallapiccola , Fowzan S Alkuraya , Ruey-Bing Yang , Marco Tartaglia

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Brain : a journal of neurology

Avec: Antonella Sferra , Paola Fortugno , Marialetizia Motta , Chiara Aiello , Stefania Petrini , Andrea Ciolfi , Francesca Cipressa , Isabella Moroni , Vincenzo Leuzzi , Luisa Pieroni , Federica Marini , Odile Boespflug Tanguy , Eleonore Eymard-Pierre , Federica Rachele Danti , Claudia Compagnucci , Giovanna Zambruno , Alfredo Brusco , Filippo M Santorelli , Luisa Chiapparini , Paola Francalanci , Anna Livia Loizzo , Marco Tartaglia , Gianluca Cestra , Enrico Bertini

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Clinical epigenetics

Avec: Andrea Ciolfi , Aidin Foroutan , Alessandro Capuano , Lucia Pedace , Lorena Travaglini , Simone Pizzi , Marco Andreani , Evelina Miele , Federica Invernizzi , Chiara Reale , Celeste Panteghini , Maria Iascone , Marcello Niceta , Ralitza H Gavrilova , Laura Schultz-Rogers , Emanuele Agolini , Maria Francesca Bedeschi , Paolo Prontera , Matteo Garibaldi , Serena Galosi , Vincenzo Leuzzi , Paola Soliveri , Rory J Olson , Giovanna S Zorzi , Barbara M Garavaglia , Marco Tartaglia , Bekim Sadikovic

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics

Avec: Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha S Zaki , Andrea Ciolfi , Julien Paccaud , François Girodon , Odile Boespflug-Tanguy , Thomas Besnard , Jennifer Kerkhof , Haley McConkey , Aymeric Masson , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Eva Trochu , Virginie Vignard , Fatima El It , Lance H Rodan , Mohammad Ayman Alkhateeb , Rami Abou Jamra , Laurence Duplomb , Emilie Tisserant , Yannis Duffourd , Ange-Line Bruel , Adam Jackson , Siddharth Banka , Meriel McEntagart , Anand Saggar , Joseph G Gleeson , David Sievert , Hyunwoo Bae , Beom Hee Lee , Kisang Kwon , Go Hun Seo , Hane Lee , Anjum Saeed , Nadeem Anjum , Huma Cheema , Salem Alawbathani , Imran Khan , Jorge Pinto-Basto , Joyce Teoh , Jasmine Wong , Umar Bin Mohamad Sahari , Henry Houlden , Kristina Zhelcheska , Melanie Pannetier , Mona A Awad , Marion Lesieur-Sebellin , Giulia Barcia , Jeanne Amiel , Julian Delanne , Christophe Philippe , Laurence Faivre , Sylvie Odent , Aida Bertoli-Avella , Christel Thauvin , Bekim Sadikovic , Bruno Reversade , Reza Maroofian , Jérôme Govin , Marco Tartaglia , Antonio Vitobello

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Manuela Priolo , Cecilia Mancini , Francesca Clementina Radio , Luigi Chiriatti , Andrea Ciolfi , Camilla Cappelletti , Viviana Cordeddu , Letizia Pintomalli , Alfredo Brusco , Corrado Mammi , Marco Tartaglia

Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Avec: Claudia M Salgado , Rita Alaggio , Andrea Ciolfi , Angelica Zin , Francesca Diomedi Camassei , Lucia Pedace , Giuseppe Maria Milano , Annalisa Serra , Angela Di Giannatale , Angela Mastronuzzi , Andrea Gianatti , Gianni Bisogno , Andrea Ferrari , Marco Tartaglia , Miguel Reyes-Múgica , Franco Locatelli , Evelina Miele

Réseau de co-auteurs

Marco Tartaglia 61 collaborations

Marcello Niceta 18 collaborations

Simone Pizzi 18 collaborations

Bruno Dallapiccola 16 collaborations

Evelina Miele 16 collaborations

Francesca Clementina Radio 16 collaborations

Lucia Pedace 15 collaborations

Alessandro Bruselles 14 collaborations

Sabina Barresi 11 collaborations

Francesca Pantaleoni 11 collaborations

None None 10 collaborations

Giuseppe Zampino 10 collaborations

Bekim Sadikovic 10 collaborations

Laurence Faivre 9 collaborations

Franco Locatelli 8 collaborations

Marialetizia Motta 8 collaborations

Antonio Novelli 8 collaborations

Jennifer Kerkhof 8 collaborations

Elisabetta Flex 8 collaborations

Maria Cristina Digilio 7 collaborations

Marco Ferilli 7 collaborations

Cecilia Mancini 7 collaborations

Manuela Priolo 7 collaborations

Simone Martinelli 7 collaborations

Maria Lisa Dentici 7 collaborations

Michael A Levy 7 collaborations

Haley McConkey 7 collaborations

Antonio Vitobello 7 collaborations

Alfredo Brusco 6 collaborations

Rita Alaggio 6 collaborations

Angela Mastronuzzi 6 collaborations

Viviana Cordeddu 6 collaborations

Emanuele Bellacchio 6 collaborations

Siddharth Banka 6 collaborations

A Ciolfi 5 collaborations

Alessandro De Luca 5 collaborations

Camilla Cappelletti 5 collaborations

Paolo Prontera 5 collaborations

Emanuele Agolini 5 collaborations

Luca Pannone 5 collaborations

Giuseppe Merla 5 collaborations

Giovanna Carpentieri 5 collaborations

Christel Thauvin-Robinet 5 collaborations

Sabrina Rossi 4 collaborations

Stefania Petrini 4 collaborations

Maria Iascone 4 collaborations

Luigi Chiriatti 4 collaborations

Edoardo Brauner 4 collaborations

Alessandro Ciolfi 4 collaborations

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S Di Carlo 3 collaborations

F De Angelis 3 collaborations

E Brauner 3 collaborations

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