Francesca Clementina Radio

Affiliations
  • Genetics and Rare Diseases Research Division, Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
ORCID: 0000-0003-1993-8018

Publications (58)

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

American journal of medical genetics. Part A
Avec: Bradley Bowles , Alejandro Ferrer , Carla J Nishimura , Filippo Pinto E Vairo , Tristan Rey , Bruno Leheup , Jennifer Sullivan , Kelly Schoch , Nicholas Stong , Emanuele Agolini , Dario Cocciadiferro , Abigail Williams , Alex Cummings , Sara Loddo , Silvia Genovese , Chelsea Roadhouse , Kirsty McWalter , Auteur inconnu , Ingrid M Wentzensen , Chumei Li , Dusica Babovic-Vuksanovic , Brendan C Lanpher , Maria Lisa Dentici , Arun Ankala , J Austin Hamm , Bruno Dallapiccola , Francesca Clementina Radio , Vandana Shashi , Benedicte Gérard , Agnes Bloch-Zupan , Richard J Smith , Eric W Klee

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

International journal of molecular sciences
Avec: Vincenzo Antona , Federica Scalia , Elisa Giorgio , Francesca C Radio , Alfredo Brusco , Massimiliano Oliveri , Giovanni Corsello , Fabrizio Lo Celso , Maria Vadalà , Everly Conway de Macario , Alberto J L Macario , Francesco Cappello , Mario Giuffrè

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

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

American journal of human genetics
Avec: Elodie M Richard , Somayeh Bakhtiari , Ashley P L Marsh , Rauan Kaiyrzhanov , Matias Wagner , Sheetal Shetty , Alex Pagnozzi , Sandra M Nordlie , Brandon S Guida , Patricia Cornejo , Helen Magee , James Liu , Bethany Y Norton , Richard I Webster , Lisa Worgan , Hakon Hakonarson , Jiankang Li , Yiran Guo , Mahim Jain , Alyssa Blesson , Lance H Rodan , Mary-Alice Abbott , Anne Comi , Julie S Cohen , Bader Alhaddad , Thomas Meitinger , Dominic Lenz , Andreas Ziegler , Urania Kotzaeridou , Theresa Brunet , Anna Chassevent , Constance Smith-Hicks , Joseph Ekstein , Tzvi Weiden , Andreas Hahn , Nazira Zharkinbekova , Peter Turnpenny , Arianna Tucci , Melissa Yelton , Rita Horvath , Serdal Gungor , Semra Hiz , Yavuz Oktay , Hanns Lochmuller , Marcella Zollino , Manuela Morleo , Giuseppe Marangi , Vincenzo Nigro , Annalaura Torella , Michele Pinelli , Simona Amenta , Ralf A Husain , Benita Grossmann , Marion Rapp , Claudia Steen , Iris Marquardt , Mona Grimmel , Ute Grasshoff , G Christoph Korenke , Marta Owczarek-Lipska , John Neidhardt , Francesca Clementina Radio , Cecilia Mancini , Dianela Judith Claps Sepulveda , Kirsty McWalter , Amber Begtrup , Amy Crunk , Maria J Guillen Sacoto , Richard Person , Rhonda E Schnur , Maria Margherita Mancardi , Florian Kreuder , Pasquale Striano , Federico Zara , Wendy K Chung , Warren A Marks , Clare L van Eyk , Dani L Webber , Mark A Corbett , Kelly Harper , Jesia G Berry , Alastair H MacLennan , Jozef Gecz , Marco Tartaglia , Vincenzo Salpietro , John Christodoulou , Jan Kaslin , Sergio Padilla-Lopez , Kaya Bilguvar , Alexander Munchau , Zubair M Ahmed , Robert B Hufnagel , Michael C Fahey , Reza Maroofian , Henry Houlden , Heinrich Sticht , Shrikant M Mane , Aboulfazl Rad , Barbara Vona , Sheng Chih Jin , Tobias B Haack , Christine Makowski , Yoel Hirsch , Saima Riazuddin , Michael C Kruer

Epilepsy and

Genes
Avec: Domenica I Battaglia , Maria Luigia Gambardella , Stefania Veltri , Ilaria Contaldo , Giovanni Chillemi , Chiara Veredice , Michela Quintiliani , Chiara Leoni , Roberta Onesimo , Tommaso Verdolotti , Francesca Clementina Radio , Diego Martinelli , Marina Trivisano , Nicola Specchio , Charlotte Dravet , Marco Tartaglia , Giuseppe Zampino

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

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

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

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.

Archives of public health = Archives belges de sante publique
Avec: Mario Cesare Nurchis , Gerardo Altamura , Maria Teresa Riccardi , Francesca Clementina Radio , Giovanni Chillemi , Enrico Silvio Bertini , Jacopo Garlasco , Marco Tartaglia , Bruno Dallapiccola , Gianfranco Damiani

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

International journal of molecular sciences
Avec: Stefania Martino , Pietro D'Addabbo , Antonella Turchiano , Francesca Clementina Radio , Alessandro Bruselles , Viviana Cordeddu , Cecilia Mancini , Alessandro Stella , Nicola Laforgia , Donatella Capodiferro , Simonetta Simonetti , Rosanna Bagnulo , Orazio Palumbo , Flaviana Marzano , Ornella Tabaku , Antonella Garganese , Michele Stasi , Marco Tartaglia , Graziano Pesole , Nicoletta Resta

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

American journal of human genetics
Avec: Xiaomin Dong , Natalie B Tan , Katherine B Howell , Sabina Barresi , Jeremy L Freeman , Davide Vecchio , Maria Piccione , Francesca Clementina Radio , Daniel Calame , Shan Zong , Stefanie Eggers , Ingrid E Scheffer , Tiong Y Tan , Nicole J Van Bergen , Marco Tartaglia , John Christodoulou , Susan M White

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

Histone H3.3 beyond cancer: Germline mutations in

Science advances
Avec: Laura Bryant , Dong Li , Samuel G Cox , Dylan Marchione , Evan F Joiner , Khadija Wilson , Kevin Janssen , Pearl Lee , Michael E March , Divya Nair , Elliott Sherr , Brieana Fregeau , Klaas J Wierenga , Alexandrea Wadley , Grazia M S Mancini , Nina Powell-Hamilton , Jiddeke van de Kamp , Theresa Grebe , John Dean , Alison Ross , Heather P Crawford , Zoe Powis , Megan T Cho , Marcia C Willing , Linda Manwaring , Rachel Schot , Caroline Nava , Alexandra Afenjar , Davor Lessel , Matias Wagner , Thomas Klopstock , Juliane Winkelmann , Claudia B Catarino , Kyle Retterer , Jane L Schuette , Jeffrey W Innis , Amy Pizzino , Sabine Lüttgen , Jonas Denecke , Tim M Strom , Kristin G Monaghan , Auteur inconnu , Zuo-Fei Yuan , Holly Dubbs , Renee Bend , Jennifer A Lee , Michael J Lyons , Julia Hoefele , Roman Günthner , Heiko Reutter , Boris Keren , Kelly Radtke , Omar Sherbini , Cameron Mrokse , Katherine L Helbig , Sylvie Odent , Benjamin Cogne , Sandra Mercier , Stephane Bezieau , Thomas Besnard , Sebastien Kury , Richard Redon , Karit Reinson , Monica H Wojcik , Katrin Õunap , Pilvi Ilves , A Micheil Innes , Kristin D Kernohan , Auteur inconnu , Gregory Costain , M Stephen Meyn , David Chitayat , Elaine Zackai , Anna Lehman , Hilary Kitson , Auteur inconnu , Martin G Martin , Julian A Martinez-Agosto , Auteur inconnu , Stan F Nelson , Christina G S Palmer , Jeanette C Papp , Neil H Parker , Janet S Sinsheimer , Eric Vilain , Jijun Wan , Amanda J Yoon , Allison Zheng , Elise Brimble , Giovanni Battista Ferrero , Francesca Clementina Radio , Diana Carli , Sabina Barresi , Alfredo Brusco , Marco Tartaglia , Jennifer Muncy Thomas , Luis Umana , Marjan M Weiss , Garrett Gotway , K E Stuurman , Michelle L Thompson , Kirsty McWalter , Constance T R M Stumpel , Servi J C Stevens , Alexander P A Stegmann , Kristian Tveten , Arve Vøllo , Trine Prescott , Christina Fagerberg , Lone Walentin Laulund , Martin J Larsen , Melissa Byler , Robert Roger Lebel , Anna C Hurst , Joy Dean , Samantha A Schrier Vergano , Jennifer Norman , Saadet Mercimek-Andrews , Juanita Neira , Margot I Van Allen , Nicola Longo , Elizabeth Sellars , Raymond J Louie , Sara S Cathey , Elly Brokamp , Delphine Heron , Molly Snyder , Adeline Vanderver , Celeste Simon , Xavier de la Cruz , Natália Padilla , J Gage Crump , Wendy Chung , Benjamin Garcia , Hakon H Hakonarson , Elizabeth J Bhoj

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Alexandra Scott , Niccolò Di Giosaffatte , Valentina Pinna , Paola Daniele , Sara Corno , Valentina D'Ambrosio , Elena Andreucci , Annabella Marozza , Fabio Sirchia , Giada Tortora , Daniela Mangiameli , Chiara Di Marco , Maria Romagnoli , Ilaria Donati , Andrea Zonta , Enrico Grosso , Valeria Giorgia Naretto , Gioia Mastromoro , Paolo Versacci , Francesca Pantaleoni , Francesca Clementina Radio , Tommaso Mazza , Giuseppe Damante , Laura Papi , Teresa Mattina , Antonella Giancotti , Antonio Pizzuti , Anne-Marie Laberge , Marco Tartaglia , Marie-Ange Delrue , Alessandro De Luca

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

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Genes
Avec: Manuela Priolo , Cecilia Mancini , Simone Pizzi , Luigi Chiriatti , Francesca Clementina Radio , Viviana Cordeddu , Letizia Pintomalli , Corrado Mammì , Bruno Dallapiccola , Marco Tartaglia

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

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Genes
Avec: Gabriele Trimarchi , Stefano Giuseppe Caraffi , Francesca Clementina Radio , Sabina Barresi , Gianluca Contrò , Simone Pizzi , Ilenia Maini , Marzia Pollazzon , Carlo Fusco , Silvia Sassi , Davide Nicoli , Manuela Napoli , Rosario Pascarella , Giancarlo Gargano , Orsetta Zuffardi , Marco Tartaglia , Livia Garavelli

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Ferdinand Dhombres , Patricia Morgan , Bimal P Chaudhari , Isabel Filges , Teresa N Sparks , Pablo Lapunzina , Tony Roscioli , Umber Agarwal , Shagun Aggarwal , Claire Beneteau , Pilar Cacheiro , Leigh C Carmody , Sophie Collardeau-Frachon , Esther A Dempsey , Andreas Dufke , Michael Henri Duyzend , Mirna El Ghosh , Jessica L Giordano , Ragnhild Glad , Ieva Grinfelde , Dominic G Iliescu , Markus S Ladewig , Monica C Munoz-Torres , Marzia Pollazzon , Francesca Clementina Radio , Carlota Rodo , Raquel Gouveia Silva , Damian Smedley , Jagadish Chandrabose Sundaramurthi , Sabrina Toro , Irene Valenzuela , Nicole A Vasilevsky , Ronald J Wapner , Roni Zemet , Melissa A Haendel , Peter N Robinson

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

American journal of human genetics
Avec: Melanie Brugger , Antonella Lauri , Yan Zhen , Laura L Gramegna , Benedikt Zott , Nikolina Sekulić , Giulia Fasano , Robert Kopajtich , Viviana Cordeddu , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Graziamaria Paradisi , Ginevra Zanni , Gessica Vasco , Rosalba Carrozzo , Flavia Palombo , Caterina Tonon , Raffaele Lodi , Chiara La Morgia , Maria Arelin , Cristiane Blechschmidt , Tom Finck , Vigdis Sørensen , Kornelia Kreiser , Gertrud Strobl-Wildemann , Hagit Daum , Rachel Michaelson-Cohen , Lucia Ziccardi , Giuseppe Zampino , Holger Prokisch , Rami Abou Jamra , Claudio Fiorini , Thomas Arzberger , Juliane Winkelmann , Leonardo Caporali , Valerio Carelli , Harald Stenmark , Marco Tartaglia , Matias Wagner

Case report: Novel compound heterozygosity for pathogenic variants in

Frontiers in neurology
Avec: Emanuela Salzano , Marcello Niceta , Simone Pizzi , Francesca Clementina Radio , Martina Busè , Francesca Mercadante , Sabina Barresi , Arturo Ferrara , Cecilia Mancini , Marco Tartaglia , Maria Piccione

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

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

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

Orphanet journal of rare diseases
Avec: Michael Smith , Elizabeth Alexander , Ruta Marcinkute , Dorica Dan , Myfanwy Rawson , Siddharth Banka , Jason Gavin , Hany Mina , Con Hennessy , Florence Riccardi , Francesca Clementina Radio , Marketa Havlovicova , Matteo Cassina , Adela Chirita Emandi , Melanie Fradin , Lianne Gompertz , Ann Nordgren , Rasa Traberg , Massimiliano Rossi , Aurelién Trimouille , Rasika Sowmyalakshmi , Bruno Dallapiccola , Alessandra Renieri , Laurence Faivre , Bronwyn Kerr , Alain Verloes , Jill Clayton-Smith , Sofia Douzgou , Auteur inconnu

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

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: James Fasham , Siying Lin , Promita Ghosh , Francesca Clementina Radio , Emily G Farrow , Isabelle Thiffault , Jennifer Kussman , Dihong Zhou , Rick Hemming , Kenneth Zahka , Barry A Chioza , Lettie E Rawlins , Olivia K Wenger , Adam C Gunning , Simone Pizzi , Roberta Onesimo , Giuseppe Zampino , Emily Barker , Natasha Osawa , Megan Christine Rodriguez , Teresa M Neuhann , Elaine H Zackai , Beth Keena , Jenina Capasso , Alex V Levin , Elizabeth Bhoj , Dong Li , Hakon Hakonarson , Ingrid M Wentzensen , Adam Jackson , Kate E Chandler , Zeynep H Coban-Akdemir , Jennifer E Posey , Siddharth Banka , James R Lupski , Sarah E Sheppard , Marco Tartaglia , Barbara Triggs-Raine , Andrew H Crosby , Emma L Baple

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

Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence.

Health policy (Amsterdam, Netherlands)
Avec: Mario Cesare Nurchis , Maria Teresa Riccardi , Francesca Clementina Radio , Giovanni Chillemi , Enrico Silvio Bertini , Marco Tartaglia , Americo Cicchetti , Bruno Dallapiccola , Gianfranco Damiani

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Clinical genetics
Avec: Marcello Niceta , Simone Pizzi , Francesca Inzana , Angela Peron , Somayeh Bakhtiari , Mathilde Nizon , Jonathan Levy , Cecilia Mancini , Benjamin Cogné , Francesca Clementina Radio , Emanuele Agolini , Dario Cocciadiferro , Antonio Novelli , Mustafa A Salih , Maria Paola Recalcati , Rosangela Arancio , Marianne Besnard , Anne-Claude Tabet , Michael C Kruer , Manuela Priolo , Bruno Dallapiccola , Marco Tartaglia

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Nature communications
Avec: Giulia Fasano , Valentina Muto , Francesca Clementina Radio , Martina Venditti , Niloufar Mosaddeghzadeh , Simona Coppola , Graziamaria Paradisi , Erika Zara , Farhad Bazgir , Alban Ziegler , Giovanni Chillemi , Lucia Bertuccini , Antonella Tinari , Annalisa Vetro , Francesca Pantaleoni , Simone Pizzi , Libenzio Adrian Conti , Stefania Petrini , Alessandro Bruselles , Ingrid Guarnetti Prandi , Cecilia Mancini , Balasubramanian Chandramouli , Magalie Barth , Céline Bris , Donatella Milani , Angelo Selicorni , Marina Macchiaiolo , Michaela V Gonfiantini , Andrea Bartuli , Riccardo Mariani , Cynthia J Curry , Renzo Guerrini , Anne Slavotinek , Maria Iascone , Bruno Dallapiccola , Mohammad Reza Ahmadian , Antonella Lauri , Marco Tartaglia

Case Report: Sequential postzygotic

Frontiers in genetics
Avec: Roberta Zuntini , Chiara Cattani , Lucia Pedace , Evelina Miele , Stefano Giuseppe Caraffi , Stefano Gardini , Elena Ficarelli , Simone Pizzi , Francesca Clementina Radio , Angelica Barone , Simonetta Piana , Patrizia Bertolini , Domenico Corradi , Maria Marinelli , Caterina Longo , Alberico Motolese , Orsetta Zuffardi , Marco Tartaglia , Livia Garavelli

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

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.

The Journal of clinical investigation
Avec: Pazhanichamy Kalailingam , Kai Qi Wang , Xiu Ru Toh , Toan Q Nguyen , Madhuvanthi Chandrakanthan , Zafrul Hasan , Clair Habib , Aharon Schif , Francesca Clementina Radio , Bruno Dallapiccola , Karin Weiss , Long N Nguyen

Pathogenic PTPN11 variants involving the poly-glutamine Gln

Human mutation
Avec: Simone Martinelli , Luca Pannone , Christina Lissewski , Julia Brinkmann , Elisabetta Flex , Denny Schanze , Paolo Calligari , Massimiliano Anselmi , Francesca Pantaleoni , Viviana Claudia Canale , Francesca Clementina Radio , Adonis Ioannides , Nils Rahner , Ina Schanze , Dragana Josifova , Gianfranco Bocchinfuso , Mina Ryten , Lorenzo Stella , Marco Tartaglia , Martin Zenker

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

The Journal of clinical investigation
Avec: Najim Lahrouchi , Alex V Postma , Christian M Salazar , Daniel M De Laughter , Fleur Tjong , Lenka Piherová , Forrest Z Bowling , Dominic Zimmerman , Elisabeth M Lodder , Asaf Ta-Shma , Zeev Perles , Leander Beekman , Aho Ilgun , Quinn Gunst , Mariam Hababa , Doris Škorić-Milosavljević , Viktor Stránecký , Viktor Tomek , Peter de Knijff , Rick de Leeuw , Jamille Y Robinson , Sabrina C Burn , Hiba Mustafa , Matthew Ambrose , Timothy Moss , Jennifer Jacober , Dmitriy M Niyazov , Barry Wolf , Katherine H Kim , Sara Cherny , Andreas Rousounides , Aphrodite Aristidou-Kallika , George Tanteles , Bruel Ange-Line , Anne-Sophie Denommé-Pichon , Christine Francannet , Damara Ortiz , Monique C Haak , Arend D.J. Ten Harkel , Gwendolyn Tr Manten , Annemiek C Dutman , Katelijne Bouman , Monia Magliozzi , Francesca Clementina Radio , Gijs We Santen , Johanna C Herkert , H Alex Brown , Orly Elpeleg , Maurice Jb van den Hoff , Barbara Mulder , Michael V Airola , Stanislav Kmoch , Joey V Barnett , Sally-Ann Clur , Michael A Frohman , Connie R Bezzina

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the

Genes
Avec: Gianluca Contrò , Alessia Micalizzi , Sara Giangiobbe , Stefano Giuseppe Caraffi , Roberta Zuntini , Simonetta Rosato , Marzia Pollazzon , Alessandra Terracciano , Manuela Napoli , Susanna Rizzi , Grazia Gabriella Salerno , Francesca Clementina Radio , Marcello Niceta , Elena Parrini , Carlo Fusco , Giancarlo Gargano , Renzo Guerrini , Marco Tartaglia , Antonio Novelli , Orsetta Zuffardi , Livia Garavelli

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

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Genes
Avec: Francesca Peluso , Stefano Giuseppe Caraffi , Roberta Zuntini , Gabriele Trimarchi , Ivan Ivanovski , Lara Valeri , Veronica Barbieri , Maria Marinelli , Alessia Pancaldi , Nives Melli , Claudia Cesario , Emanuele Agolini , Elena Cellini , Francesca Clementina Radio , Antonella Crisafi , Manuela Napoli , Renzo Guerrini , Marco Tartaglia , Antonio Novelli , Giancarlo Gargano , Orsetta Zuffardi , Livia Garavelli

Brain Abnormalities in Patients with Germline Variants in

AJNR. American journal of neuroradiology
Avec: C A P F Alves , O Sherbini , F D'Arco , D Steel , M A Kurian , F C Radio , G B Ferrero , D Carli , M Tartaglia , T B Balci , N N Powell-Hamilton , S A Schrier Vergano , H Reutter , J Hoefele , R Günthner , E R Roeder , R O Littlejohn , D Lessel , S Lüttgen , C Kentros , K Anyane-Yeboa , C B Catarino , S Mercimek-Andrews , J Denecke , M J Lyons , T Klopstock , E J Bhoj , L Bryant , A Vanderver

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

Case report: Expanding the phenotype of

Frontiers in neurology
Avec: Carlo Alberto Cesaroni , Marzia Pollazzon , Cecilia Mancini , Susanna Rizzi , Camilla Cappelletti , Simone Pizzi , Daniele Frattini , Carlotta Spagnoli , Stefano Giuseppe Caraffi , Roberta Zuntini , Gabriele Trimarchi , Marcello Niceta , Francesca Clementina Radio , Marco Tartaglia , Livia Garavelli , Carlo Fusco

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.

Journal of personalized medicine
Avec: Mario Cesare Nurchis , Gian Marco Raspolini , Aurora Heidar Alizadeh , Gerardo Altamura , Francesca Clementina Radio , Marco Tartaglia , Bruno Dallapiccola , Gianfranco Damiani

Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.

JAMA network open
Avec: Mario Cesare Nurchis , Francesca Clementina Radio , Luca Salmasi , Aurora Heidar Alizadeh , Gian Marco Raspolini , Gerardo Altamura , Marco Tartaglia , Bruno Dallapiccola , Elena Pizzo , Maria Michela Gianino , Gianfranco Damiani

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Li Xin Zhang , Gabrielle Lemire , Claudia Gonzaga-Jauregui , Sirinart Molidperee , Carolina Galaz-Montoya , David S Liu , Alain Verloes , Amelle G Shillington , Kosuke Izumi , Alyssa L Ritter , Beth Keena , Elaine Zackai , Dong Li , Elizabeth Bhoj , Jennifer M Tarpinian , Emma Bedoukian , Mary K Kukolich , A Micheil Innes , Grace U Ediae , Sarah L Sawyer , Karippoth Mohandas Nair , Para Chottil Soumya , Kinattinkara R Subbaraman , Frank J Probst , Jennifer A Bassetti , Reid V Sutton , Richard A Gibbs , Chester Brown , Philip M Boone , Ingrid A Holm , Marco Tartaglia , Giovanni Battista Ferrero , Marcello Niceta , Maria Lisa Dentici , Francesca Clementina Radio , Boris Keren , Constance F Wells , Christine Coubes , Annie Laquerrière , Jacqueline Aziza , Charlotte Dubucs , Sheela Nampoothiri , David Mowat , Millan S Patel , Ana Bracho , Francisco Cammarata-Scalisi , Alper Gezdirici , Alberto Fernandez-Jaen , Natalie Hauser , Yuri A Zarate , Katherine A Bosanko , Klaus Dieterich , John C Carey , Jessica X Chong , Deborah A Nickerson , Michael J Bamshad , Brendan H Lee , Xiang-Jiao Yang , James R Lupski , Philippe M Campeau

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

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

European journal of human genetics : EJHG
Avec: Theodore G Drivas , Dong Li , Divya Nair , Joseph T Alaimo , Mariëlle Alders , Janine Altmüller , Tahsin Stefan Barakat , E Martina Bebin , Nicole L Bertsch , Patrick R Blackburn , Alyssa Blesson , Arjan M Bouman , Knut Brockmann , Perrine Brunelle , Margit Burmeister , Gregory M Cooper , Jonas Denecke , Anne Dieux-Coëslier , Holly Dubbs , Alejandro Ferrer , Danna Gal , Lauren E Bartik , Lauren B Gunderson , Linda Hasadsri , Mahim Jain , Catherine Karimov , Beth Keena , Eric W Klee , Katja Kloth , Baiba Lace , Marina Macchiaiolo , Julien L Marcadier , Jeff M Milunsky , Melanie P Napier , Xilma R Ortiz-Gonzalez , Pavel N Pichurin , Jason Pinner , Zoe Powis , Chitra Prasad , Francesca Clementina Radio , Kristen J Rasmussen , Deborah L Renaud , Eric T Rush , Carol Saunders , Duygu Selcen , Ann R Seman , Deepali N Shinde , Erica D Smith , Thomas Smol , Lot Snijders Blok , Joan M Stoler , Sha Tang , Marco Tartaglia , Michelle L Thompson , Jiddeke M van de Kamp , Jingmin Wang , Dagmar Weise , Karin Weiss , Rixa Woitschach , Bernd Wollnik , Huifang Yan , Elaine H Zackai , Giuseppe Zampino , Philippe Campeau , Elizabeth Bhoj

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

European journal of human genetics : EJHG
Avec: Christina Lissewski , Valérie Chune , Francesca Pantaleoni , Alessandro De Luca , Yline Capri , Julia Brinkmann , Francesca Lepri , Paola Daniele , Erika Leenders , Laura Mazzanti , Emanuela Scarano , Francesca Clementina Radio , Kerstin Kutsche , Alma Kuechler , Marion Gérard , Kara Ranguin , Marine Legendre , Yoann Vial , Ineke van der Burgt , Tuula Rinne , Elena Andreucci , Gioia Mastromoro , Maria Cristina Digilio , Hélène Cave , Marco Tartaglia , Martin Zenker

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

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

American journal of medical genetics. Part A
Avec: Sara Loddo , Viola Alesi , Francesca Clementina Radio , Silvia Genovese , Silvia Di Tommaso , Giusy Calvieri , Valeria Orlando , Enrico Bertini , Maria Lisa Dentici , Antonio Novelli , Bruno Dallapiccola

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.

American journal of medical genetics. Part A
Avec: Lisa Pavinato , Slavica Trajkova , Enrico Grosso , Elisa Giorgio , Alessandro Bruselles , Francesca Clementina Radio , Tommaso Pippucci , Paola Dimartino , Marco Tartaglia , Aleksandar Petlichkovski , Silvia De Rubeis , Joseph Buxbaum , Giovanni Battista Ferrero , Roberto Keller , Alfredo Brusco

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Clinical genetics
Avec: Maria B Christensen , Amanda M Levy , Nazanin A Mohammadi , Marcello Niceta , Rauan Kaiyrzhanov , Maria Lisa Dentici , Chadi Al Alam , Viola Alesi , Valérie Benoit , Kailash P Bhatia , Tatjana Bierhals , Christian M Boßelmann , Julien Buratti , Bert Callewaert , Berten Ceulemans , Perrine Charles , Matthias De Wachter , Mohammadreza Dehghani , Erika D'haenens , Martine Doco-Fenzy , Michaela Geßner , Cyrielle Gobert , Ulviyya Guliyeva , Tobias B Haack , Trine B Hammer , Tilman Heinrich , Maja Hempel , Theresia Herget , Ute Hoffmann , Judit Horvath , Henry Houlden , Boris Keren , Christina Kresge , Candy Kumps , Damien Lederer , Alban Lermine , Francesca Magrinelli , Reza Maroofian , Mohammad Yahya Vahidi Mehrjardi , Mahdiyeh Moudi , Amelie J Müller , Anna J Oostra , Beth A Pletcher , David Ros-Pardo , Shanika Samarasekera , Marco Tartaglia , Kristof Van Schil , Julie Vogt , Evangeline Wassmer , Juliane Winkelmann , Maha S Zaki , Michael Zech , Holger Lerche , Francesca Clementina Radio , Paulino Gomez-Puertas , Rikke S Møller , Zeynep Tümer

Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.

The European journal of health economics : HEPAC : health economics in prevention and care
Avec: Mario Cesare Nurchis , Francesca Clementina Radio , Luca Salmasi , Aurora Heidar Alizadeh , Gian Marco Raspolini , Gerardo Altamura , Marco Tartaglia , Bruno Dallapiccola , Gianfranco Damiani

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.

Human molecular genetics
Avec: Elisabetta Flex , Shahad Albadri , Francesca Clementina Radio , Serena Cecchetti , Antonella Lauri , Manuela Priolo , Marta Kissopoulos , Giovanna Carpentieri , Giulia Fasano , Martina Venditti , Valentina Magliocca , Emanuele Bellacchio , Carrie L Welch , Paolo C Colombo , Stephanie M Kochav , Richard Chang , Rebekah Barrick , Marina Trivisano , Alessia Micalizzi , Rossella Borghi , Elena Messina , Cecilia Mancini , Simone Pizzi , Flavia De Santis , Marion Rosello , Nicola Specchio , Claudia Compagnucci , Kirsty McWalter , Wendy K Chung , Filippo Del Bene , Marco Tartaglia

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

Prenatal Clinical Findings in

Genes
Avec: Emanuele Coccia , Lara Valeri , Roberta Zuntini , Stefano Giuseppe Caraffi , Francesca Peluso , Luca Pagliai , Antonietta Vezzani , Zaira Pietrangiolillo , Francesco Leo , Nives Melli , Valentina Fiorini , Andrea Greco , Francesca Romana Lepri , Elisa Pisaneschi , Annabella Marozza , Diana Carli , Alessandro Mussa , Francesca Clementina Radio , Beatrice Conti , Maria Iascone , Giancarlo Gargano , Antonio Novelli , Marco Tartaglia , Orsetta Zuffardi , Maria Francesca Bedeschi , Livia Garavelli

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

American journal of human genetics
Avec: Tassja Kalm , Claudia Schob , Hanna Völler , Thatjana Gardeitchik , Christian Gilissen , Rolph Pfundt , Chiara Klöckner , Konrad Platzer , Annick Klabunde-Cherwon , Markus Ries , Steffen Syrbe , Francesca Beccaria , Francesca Madia , Marcello Scala , Federico Zara , Floris Hofstede , Marleen E H Simon , Richard H van Jaarsveld , Renske Oegema , Koen L I van Gassen , Sjoerd J B Holwerda , Tahsin Stefan Barakat , Arjan Bouman , Marjon van Slegtenhorst , Sara Álvarez , Alberto Fernández-Jaén , Javier Porta , Andrea Accogli , Margherita Maria Mancardi , Pasquale Striano , Michele Iacomino , Jong-Hee Chae , SeSong Jang , Soo Y Kim , David Chitayat , Saadet Mercimek-Andrews , Christel Depienne , Antje Kampmeier , Alma Kuechler , Harald Surowy , Enrico Silvio Bertini , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Marco Tartaglia , Lucas Gauthier , David Genevieve , Mylène Tharreau , Noy Azoulay , Gal Zaks-Hoffer , Nesia K Gilad , Naama Orenstein , Geneviève Bernard , Isabelle Thiffault , Jonas Denecke , Theresia Herget , Fanny Kortüm , Christian Kubisch , Robert Bähring , Stefan Kindler

Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies.

HGG advances
Avec: Giovanna Carpentieri , Serena Cecchetti , Gianfranco Bocchinfuso , Francesca Clementina Radio , Chiara Leoni , Roberta Onesimo , Paolo Calligari , Agostina Pietrantoni , Andrea Ciolfi , Marco Ferilli , Cristina Calderan , Gerarda Cappuccio , Simone Martinelli , Elena Messina , Viviana Caputo , Ulrike Hüffmeier , Cyril Mignot , Stéphane Auvin , Yline Capri , Charles Marques Lourenco , Bianca E Russell , Ahna Neustad , Nicola Brunetti Pierri , Boris Keren , André Reis , Julie S Cohen , Alexis Heidlebaugh , Clay Smith , Christian T Thiel , Leonardo Salviati , Giuseppe Zampino , Philippe M Campeau , Lorenzo Stella , Marco Tartaglia , Elisabetta Flex

Réseau de co-auteurs

Marco Tartaglia 50 collaborations
Bruno Dallapiccola 21 collaborations
Andrea Ciolfi 19 collaborations
Simone Pizzi 17 collaborations
Cecilia Mancini 14 collaborations
None None 11 collaborations
Francesca Pantaleoni 11 collaborations
Alessandro Bruselles 10 collaborations
Marcello Niceta 10 collaborations
Giuseppe Zampino 10 collaborations
Manuela Priolo 8 collaborations
Elisabetta Flex 7 collaborations
Simone Martinelli 7 collaborations
Antonio Novelli 7 collaborations
Alfredo Brusco 6 collaborations
Sabina Barresi 6 collaborations
Giovanni Chillemi 6 collaborations
Marialetizia Motta 6 collaborations
Viviana Cordeddu 6 collaborations
Giovanni Battista Ferrero 6 collaborations
Boris Keren 6 collaborations
Stefano Giuseppe Caraffi 6 collaborations
Livia Garavelli 6 collaborations
Kirsty McWalter 5 collaborations
Maria Lisa Dentici 5 collaborations
Eric W Klee 5 collaborations
Lucia Pedace 5 collaborations
Laurence Faivre 5 collaborations
Juliane Winkelmann 5 collaborations
Mario Cesare Nurchis 5 collaborations
Gianfranco Damiani 5 collaborations
Alessandro De Luca 5 collaborations
Orsetta Zuffardi 5 collaborations
Roberta Zuntini 5 collaborations
Emanuele Agolini 4 collaborations
Elisa Giorgio 4 collaborations
Diana Carli 4 collaborations
Tobias B Haack 4 collaborations
Chiara Leoni 4 collaborations
Roberta Onesimo 4 collaborations
Maria Iascone 4 collaborations
Siddharth Banka 4 collaborations
Emanuele Bellacchio 4 collaborations
Luigi Chiriatti 4 collaborations
Corrado Mammì 4 collaborations
Isabelle Thiffault 4 collaborations
Thomas Smol 4 collaborations
Gerardo Altamura 4 collaborations
Evelina Miele 4 collaborations
Dong Li 4 collaborations
Marzia Pollazzon 4 collaborations
Giancarlo Gargano 4 collaborations
Antonella Lauri 4 collaborations
Giulia Fasano 4 collaborations
Luca Pannone 4 collaborations
Julia Brinkmann 4 collaborations
Martin Zenker 4 collaborations
Serena Cecchetti 4 collaborations
Giovanna Carpentieri 4 collaborations
Ingrid M Wentzensen 3 collaborations
Francesca C Radio 3 collaborations
Matias Wagner 3 collaborations
Theresa Brunet 3 collaborations
Wendy K Chung 3 collaborations
Marina Trivisano 3 collaborations
Nicola Specchio 3 collaborations
Elke de Boer 3 collaborations
Adam Jackson 3 collaborations
Rosalba Carrozzo 3 collaborations
Kristin G Monaghan 3 collaborations
Katheryn Grand 3 collaborations
Pedro A Sanchez-Lara 3 collaborations
Karin Weiss 3 collaborations
Rolph Pfundt 3 collaborations
Alexander P A Stegmann 3 collaborations
Anita Rauch 3 collaborations
Tahsin Stefan Barakat 3 collaborations
Tianyun Wang 3 collaborations
Evan E Eichler 3 collaborations
Lisenka E L M Vissers 3 collaborations
Alain Verloes 3 collaborations
Patrick R Blackburn 3 collaborations
Johanna C Herkert 3 collaborations
Tuula Rinne 3 collaborations
Benjamin Cogné 3 collaborations
Alice Goldenberg 3 collaborations
Michael Zech 3 collaborations
Holger Prokisch 3 collaborations
Magalie Barth 3 collaborations
Cyril Mignot 3 collaborations
Alban Ziegler 3 collaborations
Linda Hasadsri 3 collaborations
Pavel N Pichurin 3 collaborations
Enrico Silvio Bertini 3 collaborations
Jonas Denecke 3 collaborations
A Micheil Innes 3 collaborations
Letizia Pintomalli 3 collaborations
Gabriele Trimarchi 3 collaborations
Carlo Fusco 3 collaborations
Manuela Napoli 3 collaborations
Enrico Bertini 3 collaborations
Beth Keena 3 collaborations
Elizabeth Bhoj 3 collaborations
Martina Venditti 3 collaborations
Renzo Guerrini 3 collaborations
Gianfranco Bocchinfuso 3 collaborations
Lorenzo Stella 3 collaborations
Alessia Micalizzi 3 collaborations
Camilla Cappelletti 3 collaborations
Gian Marco Raspolini 3 collaborations
Aurora Heidar Alizadeh 3 collaborations
Alejandro Ferrer 2 collaborations
Dario Cocciadiferro 2 collaborations
Sara Loddo 2 collaborations
Silvia Genovese 2 collaborations
Chelsea Roadhouse 2 collaborations
Vincenzo Antona 2 collaborations
Mario Giuffrè 2 collaborations
Somayeh Bakhtiari 2 collaborations
Rauan Kaiyrzhanov 2 collaborations
Hakon Hakonarson 2 collaborations
Mahim Jain 2 collaborations
Alyssa Blesson 2 collaborations
Julie S Cohen 2 collaborations
Amber Begtrup 2 collaborations
Richard Person 2 collaborations
Pasquale Striano 2 collaborations
Federico Zara 2 collaborations
John Christodoulou 2 collaborations
Reza Maroofian 2 collaborations
Henry Houlden 2 collaborations
Michael C Kruer 2 collaborations
Emilia Stellacci 2 collaborations
Stefania Lo Cicero 2 collaborations
Christophe Philippe 2 collaborations
Antonio Vitobello 2 collaborations
Carol J Saunders 2 collaborations
Dihong Zhou 2 collaborations
Sarah L Sawyer 2 collaborations
Erica L Macke 2 collaborations
Angelo Selicorni 2 collaborations
Bert B A de Vries 2 collaborations
Bronwyn Kerr 2 collaborations
Kate E Chandler 2 collaborations
Deepali N Shinde 2 collaborations
Adeline Vanderver 2 collaborations
Omar Sherbini 2 collaborations
Flavio Faletra 2 collaborations
Marjon van Slegtenhorst 2 collaborations
Bekim Sadikovic 2 collaborations
Anne-Sophie Denommé-Pichon 2 collaborations
Jill Clayton-Smith 2 collaborations
Christian Gilissen 2 collaborations
Marketa Havlovicova 2 collaborations
Alessandra Renieri 2 collaborations
Erika Zara 2 collaborations
Daniela Melis 2 collaborations
Simona Coppola 2 collaborations
Frédéric Ebstein 2 collaborations
Tzung-Chien Hsieh 2 collaborations
Michele Rapp 2 collaborations
Mariel Alders 2 collaborations
Saskia Maas 2 collaborations
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Bertrand Isidor 2 collaborations
Marie Vincent 2 collaborations
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Pascal Joset 2 collaborations
Thomas Husson 2 collaborations
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Carlos Bacino 2 collaborations
Colleen Macmurdo 2 collaborations
Stephanie S Thompson 2 collaborations
Jill A Rosenfeld 2 collaborations
Frederic Tran Mau-Them 2 collaborations
Wallid Deb 2 collaborations
Virginie Vignard 2 collaborations
Pankaj B Agrawal 2 collaborations
Jill A Madden 2 collaborations
François Lecoquierre 2 collaborations
Ján Necpál 2 collaborations
Robert Jech 2 collaborations
Monika Turčanová Koprušáková 2 collaborations
Vassiliki Konstantopoulou 2 collaborations
John R Younce 2 collaborations
Marwan Shinawi 2 collaborations
Chloe Mighton 2 collaborations
Charlotte Fung 2 collaborations
Stephanie DiTroia 2 collaborations
Dominique Bonneau 2 collaborations
Ingrid Krapels 2 collaborations
Vyne van der Schoot 2 collaborations
Cornelia Bußmann 2 collaborations
Thomas Courtin 2 collaborations
Claudia Ravelli 2 collaborations
Elke Krüger 2 collaborations
Stéphane Bézieau 2 collaborations
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