Silvia Maitz

Angelo Selicorni 8 collaborations

Maria Iascone 6 collaborations

Donatella Milani 5 collaborations

Alice Spano 5 collaborations

Cristina Gervasini 4 collaborations

Maria Piccione 4 collaborations

Giuseppe Merla 4 collaborations

Milena Mariani 4 collaborations

Luigina Spaccini 4 collaborations

Jennifer Kerkhof 3 collaborations

Gabriella Maria Squeo 3 collaborations

Haley McConkey 3 collaborations

Michael A Levy 3 collaborations

Paolo Prontera 3 collaborations

Bekim Sadikovic 3 collaborations

Maura Masciadri 3 collaborations

Maria Francesca Bedeschi 3 collaborations

Lidia Larizza 3 collaborations

Anna Cereda 3 collaborations

Laurence Faivre 3 collaborations

Jozef Gecz 3 collaborations

Antonio Vitobello 3 collaborations

None None 3 collaborations

Stephanie Maitz 3 collaborations

Clemens Kittinger 3 collaborations

Laura Fontana 2 collaborations

Silvia Tabano 2 collaborations

Monica Miozzo 2 collaborations

Marco Castori 2 collaborations

Maria Accadia 2 collaborations

Elisa Biamino 2 collaborations

Matteo Della Monica 2 collaborations

Marilena Carmela Di Giacomo 2 collaborations

Daniela Melis 2 collaborations

Ilaria Bestetti 2 collaborations

Milena Crippa 2 collaborations

Marie Falkenberg Smeland 2 collaborations

Maria Teresa Bonati 2 collaborations

Elisa Cattaneo 2 collaborations

Francesca Crosti 2 collaborations

Angela Peron 2 collaborations

Silvia Russo 2 collaborations

Karen Low 2 collaborations

Palma Finelli 2 collaborations

Erika Apuril 2 collaborations

Daniela Marchetti 2 collaborations

Agnese Scatigno 2 collaborations

Charlotte W Ockeloen 2 collaborations

Lionel Van Maldergem 2 collaborations

Andrea Ciolfi 2 collaborations

Aidin Foroutan 2 collaborations

Sadegheh Haghshenas 2 collaborations

Zandra Jenkins 2 collaborations

David Genevieve 2 collaborations

Marco Tartaglia 2 collaborations

Tjitske Kleefstra 2 collaborations

Boris Keren 2 collaborations

Cyril Mignot 2 collaborations

Karin Weiss 2 collaborations

Erin Torti 2 collaborations

Rita Fischetto 2 collaborations

Manuela Morleo 2 collaborations

Vincenzo Nigro 2 collaborations

Tommaso Pippucci 2 collaborations

Michael C Kruer 2 collaborations

Somayeh Bakhtiari 2 collaborations

Stephen P Robertson 2 collaborations

Allan Bayat 2 collaborations

Dorothy K Grange 2 collaborations

Davide Rovina 1 collaboration

Marta La Vecchia 1 collaboration

Alice Cortesi 1 collaboration

Matthieu Pesant 1 collaboration

Beatrice Bodega 1 collaboration

Silvia M Sirchia 1 collaboration

Maria Rosaria Piemontese 1 collaboration

Alessandra Sironi 1 collaboration

Francesca Tumiatti 1 collaboration

Swati Naik 1 collaboration

Oliver Murch 1 collaboration

Fabio Gotta 1 collaboration

Pietro Cavalli 1 collaboration

Chiara Pantaleoni 1 collaboration

Federica Natacci 1 collaboration

Erica Rosina 1 collaboration

Lidia Pezzani 1 collaboration

Laura Pezzoli 1 collaboration

Matteo Bellini 1 collaboration

Camilla Lucca 1 collaboration

Camilla Meossi 1 collaboration

Marta Massimello 1 collaboration

Lorenzo Colombo 1 collaboration

Sara C Reichert 1 collaboration

Rachel Li 1 collaboration

Scott A Turner 1 collaboration

Richard H van Jaarsveld 1 collaboration

Maarten P G Massink 1 collaboration

Marie-José H van den Boogaard 1 collaboration

Mireia Del Toro 1 collaboration

Agustí Rodríguez-Palmero 1 collaboration

Stéphane Fourcade 1 collaboration

Agatha Schlüter 1 collaboration

Laura Planas-Serra 1 collaboration

Aurora Pujol 1 collaboration

Lucy Loong 1 collaboration

Helen Stewart 1 collaboration

Elisa De Franco 1 collaboration

Sian Ellard 1 collaboration

Julie Frank 1 collaboration

Raymond Lewandowski 1 collaboration

Philip J Ostrowski 1 collaboration

Anna Zachariou 1 collaboration

Chey Loveday 1 collaboration

Ana Beleza-Meireles 1 collaboration

Marta Bertoli 1 collaboration

John Dean 1 collaboration

Andrew G L Douglas 1 collaboration

Ian Ellis 1 collaboration

Alison Foster 1 collaboration

John M Graham 1 collaboration

Jennifer Hague 1 collaboration

Yvonne Hilhorst-Hofstee 1 collaboration

Mariette Hoffer 1 collaboration

Diana Johnson 1 collaboration

Dragana Josifova 1 collaboration

Sarina G Kant 1 collaboration

Usha Kini 1 collaboration

Katherine Lachlan 1 collaboration

Wayne Lam 1 collaboration

Melissa Lees 1 collaboration

Sally Lynch 1 collaboration

Shane McKee 1 collaboration

Kay Metcalfe 1 collaboration

Katherine Nathanson 1 collaboration

Michael J Parker 1 collaboration

Tyler M Pierson 1 collaboration

Elisa Rahikkala 1 collaboration

Pedro A Sanchez-Lara 1 collaboration

Trevor Cole 1 collaboration

Sofia Douzgou 1 collaboration

Katrina Tatton-Brown 1 collaboration

Mouna Barat-Houari 1 collaboration

Sara Bargiacchi 1 collaboration

María Palomares Bralo 1 collaboration

Gerarda Cappuccio 1 collaboration

Angus Clarke 1 collaboration

Barbara R DuPont 1 collaboration

Mariet W Elting 1 collaboration

Timothy Fee 1 collaboration

Robin S Fletcher 1 collaboration

Florian Cherik 1 collaboration

Michael J Friez 1 collaboration

Benjamin A Hilton 1 collaboration

Simranpreet Kaur 1 collaboration

Suzanne Lewis 1 collaboration

Raymond J Louie 1 collaboration

Angela T Morgan 1 collaboration

Renske Oegema 1 collaboration

Elsebet Østergaard 1 collaboration

Nathalie Ruiz Pallares 1 collaboration

Simone Pizzi 1 collaboration

Astrid S Plomp 1 collaboration

Cathryn Poulton 1 collaboration

Jack Reilly 1 collaboration

Raissa Relator 1 collaboration

Rocio Rius 1 collaboration

Stephen Robertson 1 collaboration

Kathleen Rooney 1 collaboration

Justine Rousseau 1 collaboration

Gijs W E Santen 1 collaboration

Fernando Santos-Simarro 1 collaboration

Josephine Schijns 1 collaboration

Miya St John 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Giovanna Traficante 1 collaboration

Pleuntje J van der Sluijs 1 collaboration

Samantha A Vergano 1 collaboration

Niels Vos 1 collaboration

Kellie K Walden 1 collaboration

Dimitar Azmanov 1 collaboration

Tugce Balci 1 collaboration

Siddharth Banka 1 collaboration

Peter Henneman 1 collaboration

Jennifer A Lee 1 collaboration

Marcel M A M Mannens 1 collaboration

Tony Roscioli 1 collaboration

Victoria Siu 1 collaboration

David J Amor 1 collaboration

Gareth Baynam 1 collaboration

Eric G Bend 1 collaboration

Kym Boycott 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Philippe M Campeau 1 collaboration

John Christodoulou 1 collaboration

David Dyment 1 collaboration

Natacha Esber 1 collaboration

Jill A Fahrner 1 collaboration

Mark D Fleming 1 collaboration

Kristin D Kerrnohan 1 collaboration

Alisdair McNeill 1 collaboration

Leonie A Menke 1 collaboration

Cheryl Rockman-Greenberg 1 collaboration

Charles Schwartz 1 collaboration

Steven A Skinner 1 collaboration

Roger E Stevenson 1 collaboration

Marielle Alders 1 collaboration

Matthew L Tedder 1 collaboration

Patrizia Colapietro 1 collaboration

Emanuele Garzia 1 collaboration

Alberto Giovanni Gerli 1 collaboration

Silvia Maria Sirchia 1 collaboration

Caroline Dias 1 collaboration

Rolph Pfundt 1 collaboration

Janneke Shuurs-Hoeijmakers 1 collaboration

Elles M J Boon 1 collaboration

Johanna M van Hagen 1 collaboration

Petra Zwijnenburg 1 collaboration

Marjan M Weiss 1 collaboration

Arnaud Isapof 1 collaboration

Tova Hershkovitz 1 collaboration

René G Feichtinger 1 collaboration

Dieter Kotzot 1 collaboration

Johannes A Mayr 1 collaboration

Tawfeg Ben-Omran 1 collaboration

Laila Mahmoud 1 collaboration

Lynn S Pais 1 collaboration

Christopher A Walsh 1 collaboration

Vandana Shashi 1 collaboration

Jennifer A Sullivan 1 collaboration

Nicholas Stong 1 collaboration

Francois Lecoquierre 1 collaboration

Anne-Marie Guerrot 1 collaboration

Aude Charollais 1 collaboration

Lance H Rodan 1 collaboration

Madelyn A Gillentine 1 collaboration

Tianyun Wang 1 collaboration

Kendra Hoekzema 1 collaboration

Jill Rosenfeld 1 collaboration

Pengfei Liu 1 collaboration

Hui Guo 1 collaboration

Chang N Kim 1 collaboration

Bert B A De Vries 1 collaboration

Lisenka E L M Vissers 1 collaboration

Magnus Nordenskjold 1 collaboration

Malin Kvarnung 1 collaboration

Anna Lindstrand 1 collaboration

Ann Nordgren 1 collaboration

Ginevra Zanni 1 collaboration

Enrico Bertini 1 collaboration

Christiane Zweier 1 collaboration

Sarah Schuhmann 1 collaboration

Antje Wiesener 1 collaboration

Micah Pepper 1 collaboration

Heena Panjwani 1 collaboration

Farida Abid 1 collaboration

Irina Anselm 1 collaboration

Siddharth Srivastava 1 collaboration

Paldeep Atwal 1 collaboration

Carlos A Bacino 1 collaboration

Gifty Bhat 1 collaboration

Katherine Cobian 1 collaboration

Lynne M Bird 1 collaboration

Jennifer Friedman 1 collaboration

Meredith S Wright 1 collaboration

Bert Callewaert 1 collaboration

Florence Petit 1 collaboration

Sophie Mathieu 1 collaboration

Alexandra Afenjar 1 collaboration

Celenie K Christensen 1 collaboration

Kerry M White 1 collaboration

Orly Elpeleg 1 collaboration

Itai Berger 1 collaboration

Edward J Espineli 1 collaboration

Christina Fagerberg 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Lars Kjærsgaard Hansen 1 collaboration

Timothy Feyma 1 collaboration

Susan Hughes 1 collaboration

Isabelle Thiffault 1 collaboration

Bonnie Sullivan 1 collaboration

Shuang Yan 1 collaboration

Kory Keller 1 collaboration

Frank Kooy 1 collaboration

Marije Meuwissen 1 collaboration

Alice Basinger 1 collaboration

Mary Kukolich 1 collaboration

Meredith Philips 1 collaboration

Lucia Ortega 1 collaboration

Margaret Drummond-Borg 1 collaboration

Mathilde Lauridsen 1 collaboration

Kristina Sorensen 1 collaboration

Anna Lehman 1 collaboration

Elena Lopez-Rangel 1 collaboration

Paul Levy 1 collaboration

Davor Lessel 1 collaboration

Timothy Lotze 1 collaboration

Suneeta Madan-Khetarpal 1 collaboration

Jessica Sebastian 1 collaboration

Jodie Vento 1 collaboration

Divya Vats 1 collaboration

L Manace Benman 1 collaboration

Shane Mckee 1 collaboration

Ghayda M Mirzaa 1 collaboration

Candace Muss 1 collaboration

John Pappas 1 collaboration

Hilde Peeters 1 collaboration

Corrado Romano 1 collaboration

Maurizio Elia 1 collaboration

Ornella Galesi 1 collaboration

Marleen E H Simon 1 collaboration

Koen L I van Gassen 1 collaboration

Kara Simpson 1 collaboration

Robert Stratton 1 collaboration

Sabeen Syed 1 collaboration

Julien Thevenon 1 collaboration

Irene Valenzuela Palafoll 1 collaboration

Marie Bournez 1 collaboration

Kun Xia 1 collaboration

Rachel K Earl 1 collaboration

Tomasz Nowakowski 1 collaboration

Raphael A Bernier 1 collaboration

Evan E Eichler 1 collaboration

Pratibha Bhai 1 collaboration

Marcello Niceta 1 collaboration

Lucia Pedace 1 collaboration

Evelina Miele 1 collaboration

Solveig Heide 1 collaboration

Mariëlle Alders 1 collaboration

Giuseppe Zampino 1 collaboration

Mélanie Fradin 1 collaboration

Eric Bieth 1 collaboration

Dominique Bonneau 1 collaboration

Klaus Dieterich 1 collaboration

Patricia Fergelot 1 collaboration

Elise Schaefer 1 collaboration

Ingrid van de Laar 1 collaboration

Anne-Sophie Lebre 1 collaboration

Jil D Stegmann 1 collaboration

Jeshurun C Kalanithy 1 collaboration

Gabriel C Dworschak 1 collaboration

Nina Ishorst 1 collaboration

Enrico Mingardo 1 collaboration

Filipa M Lopes 1 collaboration

Yee Mang Ho 1 collaboration

Phillip Grote 1 collaboration

Tobias T Lindenberg 1 collaboration

Öznur Yilmaz 1 collaboration

Khadija Channab 1 collaboration

Steve Seltzsam 1 collaboration

Shirlee Shril 1 collaboration

Friedhelm Hildebrandt 1 collaboration

Felix Boschann 1 collaboration

André Heinen 1 collaboration

Angad Jolly 1 collaboration

Katherine Myers 1 collaboration

Kim McBride 1 collaboration

Mir Reza Bekheirnia 1 collaboration

Nasim Bekheirnia 1 collaboration

Marcello Scala 1 collaboration

Annalaura Torella 1 collaboration

Michele Pinelli 1 collaboration

Valeria Capra 1 collaboration

Andrea Accogli 1 collaboration

Rory J Olson 1 collaboration

Eric W Klee 1 collaboration

Brendan C Lanpher 1 collaboration

Se Song Jang 1 collaboration

Jong-Hee Chae 1 collaboration

Philipp Steinbauer 1 collaboration

Dietmar Rieder 1 collaboration

Andreas R Janecke 1 collaboration

Julia Vodopiutz 1 collaboration

Ida Vogel 1 collaboration

Jenny Blechingberg 1 collaboration

Jennifer L Cohen 1 collaboration

Kacie Riley 1 collaboration

Victoria Klee 1 collaboration

Laurence E Walsh 1 collaboration

Matthias Begemann 1 collaboration

Miriam Elbracht 1 collaboration

Thomas Eggermann 1 collaboration

Arzu Stoppe 1 collaboration

Kyra Stuurman 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Maureen S Mulhern 1 collaboration

Tristan T Sands 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Rosanna Weksberg 1 collaboration

Federica Isidori 1 collaboration

Giulia Severi 1 collaboration

Francesca Montanari 1 collaboration

Hossein Darvish 1 collaboration

Heiko Reutter 1 collaboration

Gregor Hagelueken 1 collaboration

Matthias Geyer 1 collaboration

Adrian S Woolf 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

Benjamin Odermatt 1 collaboration

Alina C Hilger 1 collaboration

Francesca Peluso 1 collaboration

Stefano G Caraffi 1 collaboration

Gianluca Contrò 1 collaboration

Lara Valeri 1 collaboration

Manuela Napoli 1 collaboration

Giorgia Carboni 1 collaboration

Alka Seth 1 collaboration

Roberta Zuntini 1 collaboration

Emanuele Coccia 1 collaboration

Guja Astrea 1 collaboration

Anne-Marie Bisgaard 1 collaboration

Ivan Ivanovski 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Melissa T Carter 1 collaboration

Maria Lisa Dentici 1 collaboration

Koenraad Devriendt 1 collaboration

Melissa Bellini 1 collaboration

Maria Cristina Digilio 1 collaboration

Asif Doja 1 collaboration

David A Dyment 1 collaboration

Stense Farholt 1 collaboration

Carlos R Ferreira 1 collaboration

Lynne A Wolfe 1 collaboration

William A Gahl 1 collaboration

Maria Gnazzo 1 collaboration

Himanshu Goel 1 collaboration

Sabine Weller Grønborg 1 collaboration

Trine Hammer 1 collaboration

Lorenzo Iughetti 1 collaboration

David A Koolen 1 collaboration

Francesca Romana Lepri 1 collaboration

Gabrielle Lemire 1 collaboration

Pedro Louro 1 collaboration

Gary McCullagh 1 collaboration

Simona F Madeo 1 collaboration

Annarita Milone 1 collaboration

Roberta Milone 1 collaboration

Jens Erik Klint Nielsen 1 collaboration

Antonio Novelli 1 collaboration

Rosario Pascarella 1 collaboration

Ivana Ricca 1 collaboration

Sarah Sawyer 1 collaboration

Sander Stegmann 1 collaboration

Constanze T Stumpel 1 collaboration

Amy Goel 1 collaboration

Juliet M Taylor 1 collaboration

Domenico Barbuti 1 collaboration

Annarosa Soresina 1 collaboration

Roberta Battini 1 collaboration

Anna Cavalli 1 collaboration

Carlo Fusco 1 collaboration

Sunita Venkateswaran 1 collaboration

Orsetta Zuffardi 1 collaboration

Samantha Vergano 1 collaboration

Livia Garavelli 1 collaboration

Paul Jakob Schmid 1 collaboration

Nadine Plank 1 collaboration

Elisabeth Knaipp 1 collaboration

Sabine Pölzl 1 collaboration

Sarah Smithson 1 collaboration

Lior Cohen 1 collaboration

Daniela Toplitsch 1 collaboration

Sabine Platzer 1 collaboration

Romana Zehner 1 collaboration

Franz Mascher 1 collaboration

Salima El Chehadeh 1 collaboration

Kyung Ah Han 1 collaboration

Dongwook Kim 1 collaboration

Gyubin Jang 1 collaboration

Dongseok Lim 1 collaboration

Hee Young Kim 1 collaboration

Jinhu Kim 1 collaboration

Hyeonho Kim 1 collaboration

Julia Wynn 1 collaboration

Wendy K Chung 1 collaboration

Giuseppina Vitiello 1 collaboration

Ioana Cutcutache 1 collaboration

Matthew Page 1 collaboration

Kelly Harper 1 collaboration

Ah-Reum Han 1 collaboration

Ho Min Kim 1 collaboration

Marja Wessels 1 collaboration

Alberto Fernández Jaén 1 collaboration

Arjan P M de Brouwer 1 collaboration

Anneke Vulto-van Silfhout 1 collaboration

Martin Armstrong 1 collaboration

Joseph Symonds 1 collaboration

Sébastien Küry 1 collaboration

Bertrand Isidor 1 collaboration

Benjamin Cogné 1 collaboration

Mathilde Nizon 1 collaboration

Claire Feger 1 collaboration

Jean Muller 1 collaboration

Marjolaine Willems 1 collaboration

Jaewon Ko 1 collaboration

Amélie Piton 1 collaboration

Ji Won Um 1 collaboration

Roberto Franceschi 1 collaboration

Massimo Soffiati 1 collaboration

Evelina Maines 1 collaboration

Amy G Jones 1 collaboration

Matilde Aquilino 1 collaboration

Rory J Tinker 1 collaboration

Laura Duncan 1 collaboration

Gemma L Carvill 1 collaboration

Stephanie J DeWard 1 collaboration

M J Hajianpour 1 collaboration

Benjamin J Halliday 1 collaboration

Muriel Holder-Espinasse 1 collaboration

Judit Horvath 1 collaboration

Victoria Paul 1 collaboration

Careni Spencer 1 collaboration

Alina I Esterhuizen 1 collaboration

Tilman Polster 1 collaboration

Inés Gómez-Lozano 1 collaboration

Abhishek Kumar 1 collaboration

Gemma Poke 1 collaboration

John A Phillips 1 collaboration

Hunter R Underhill 1 collaboration

Gregory Gimenez 1 collaboration

Takashi Namba 1 collaboration

Sabine Poelzl 1 collaboration

Daniela Dreisiebner 1 collaboration

Eva Zarschenas 1 collaboration

Silvia Nucera 1 collaboration

Grazia Fazio 1 collaboration

Rocco Piazza 1 collaboration

Silvia Rigamonti 1 collaboration

Diletta Fontana 1 collaboration

Carlo Gambacorti Passerini 1 collaboration

Attilio Rovelli 1 collaboration

Andrea Biondi 1 collaboration

Giovauni Cazzaniga 1 collaboration

Adriana Balduzzi 1 collaboration

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Margherita Marchi 1 collaboration

Irene Cracco 1 collaboration

Davide Gentilini 1 collaboration

Miriam Nella Savini 1 collaboration

Barbara Scelsa 1 collaboration

Edvige Veneselli 1 collaboration

Giulia Prato 1 collaboration

Maria Pintaudi 1 collaboration

Isabella Moroni 1 collaboration

Aglaia Vignoli 1 collaboration

Paolo E Maltese 1 collaboration

Sandro Michelini 1 collaboration

Maurizio Ricci 1 collaboration

Alessandro Fiorentino 1 collaboration

Roberta Serrani 1 collaboration

Alessandra Lazzerotti 1 collaboration

Alice Bruson 1 collaboration

Stefano Paolacci 1 collaboration

Sabrina Benedetti 1 collaboration

Matteo Bertelli 1 collaboration

Serena Redaelli 1 collaboration

Elena Sala 1 collaboration

Nicoletta Villa 1 collaboration

Miriam Rigoldi 1 collaboration

Donatella Conconi 1 collaboration

Leda Dalprà 1 collaboration

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Angela Bentivegna 1 collaboration

Bartolomeo Augello 1 collaboration

Valentina Massa 1 collaboration

Elisa Adele Colombo 1 collaboration

Tommaso Mazza 1 collaboration

Stefano Castellana 1 collaboration

Antonio Petracca 1 collaboration

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Elisabetta Di Fede 1 collaboration

Natascia Malerba 1 collaboration

Matteo Russo 1 collaboration

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Paola Cianci 1 collaboration

Valentina Decimi 1 collaboration

Maria Cristina Provero 1 collaboration

Caterina Funari 1 collaboration

Silvia Tajè 1 collaboration

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Affiliations

Publications (26)

Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

Expanding the Molecular Spectrum of

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

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

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

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

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Fiber-based food packaging materials in view of bacterial growth and survival capacities.

Comparison of Updated Methods for

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

Antimicrobial non-porous surfaces: a comparison of the standards ISO 22196:2011 and the recently published ISO 7581:2023.

Germ-Line TP53 Mutation in an Adolescent With CMML/Atypical CML and Familiar Cancer Predisposition.

Pathogenic Variants in

Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.

Réseau de co-auteurs