Francesco Brancati

Letizia Camerota 7 collaborations

Paola Fortugno 6 collaborations

Giuseppe Novelli 4 collaborations

Laura Bernardini 4 collaborations

Federico Zara 4 collaborations

Pasquale Striano 4 collaborations

Chiara De Luca 4 collaborations

Rosanna Monetta 3 collaborations

Valentina Guida 3 collaborations

Teresa Mattina 3 collaborations

Alessandro De Luca 3 collaborations

Marco Castori 3 collaborations

Maria Cristina Digilio 3 collaborations

Nicolas Chatron 3 collaborations

Christel Depienne 3 collaborations

Francesco Angelucci 3 collaborations

None None 3 collaborations

Marco Ritelli 2 collaborations

Valeria Cinquina 2 collaborations

Laura Gigante 2 collaborations

Marina Colombi 2 collaborations

Lorenzo Sinibaldi 2 collaborations

Silvia Lanciotti 2 collaborations

Alma Kuechler 2 collaborations

Malte Spielmann 2 collaborations

Francesca Brancati 2 collaborations

Raffaella Rossetti 2 collaborations

Silvia Moleri 2 collaborations

Luca Persani 2 collaborations

Bruno Bembi 2 collaborations

Matteo Cassina 2 collaborations

Mario Bengala 2 collaborations

Federica Sangiuolo 2 collaborations

Sonia Cordisco 2 collaborations

Maria Teresa Fadda 2 collaborations

Daniela Melis 2 collaborations

Francesca Forzano 2 collaborations

Silvana Briuglia 2 collaborations

Sebastiano Bianca 2 collaborations

Paolo Prontera 2 collaborations

Mario Pagnoni 2 collaborations

Bruno Dallapiccola 2 collaborations

Giorgio Iannetti 2 collaborations

Davide Gentilini 2 collaborations

Silvio Romano 2 collaborations

F Brancati 2 collaborations

Boris Keren 2 collaborations

Anne-Claude Tabet 2 collaborations

Jonathan Levy 2 collaborations

Gert Wiegand 2 collaborations

Andrea Accogli 2 collaborations

Fabio Benfenati 2 collaborations

David Lewis-Smith 2 collaborations

Rhys H Thomas 2 collaborations

Gaetan Lesca 2 collaborations

Uwe Kornak 2 collaborations

Antonio Suppa 2 collaborations

Michele Iacomino 2 collaborations

Salvatore Striano 2 collaborations

Ingo Helbig 2 collaborations

Renzo Guerrini 2 collaborations

Samuel F Berkovic 2 collaborations

Maria Grazia Giuffrida 2 collaborations

Anna Maria Nardone 2 collaborations

Leonardo Salviati 2 collaborations

Giacomo Cinnirella 2 collaborations

Anita Wischmeijer 1 collaboration

Silvia Majore 1 collaboration

None Marfan Syndrome Study Group Tor Vergata University Hospital 1 collaboration

Federica Carla Sangiuolo 1 collaboration

Valentina Parisi 1 collaboration

Paolo Fontana 1 collaboration

Genevieve Baujat 1 collaboration

Barbara Torres 1 collaboration

Judith Koetting 1 collaboration

Alessandra Splendiani 1 collaboration

Diana Postorivo 1 collaboration

Jasmin Beygo 1 collaboration

Francesco G Garaci 1 collaboration

Valerie Malan 1 collaboration

Hermann-Josef Lüdecke 1 collaboration

Mandy Krumbiegel 1 collaboration

Fortunato Lonardo 1 collaboration

Antonio Novelli 1 collaboration

Beate Albrecht 1 collaboration

Chiara Perria 1 collaboration

Gioacchino Scarano 1 collaboration

Annamaria M Nardone 1 collaboration

Agatino Battaglia 1 collaboration

Stephanie Nothelle 1 collaboration

Amelie Nkodo 1 collaboration

Kathryn Fiddler 1 collaboration

Jessica Litman 1 collaboration

Rosalie Sleppy 1 collaboration

Cynthia M Boyd 1 collaboration

Jennifer L Wolff 1 collaboration

Ilaria Ferrari 1 collaboration

Ilaria Bestetti 1 collaboration

Luisa Petrone 1 collaboration

Palma Finelli 1 collaboration

Andrea Dardis 1 collaboration

Stefania Zampieri 1 collaboration

Cinzia Gellera 1 collaboration

Rosalba Carrozzo 1 collaboration

Silvia Cattarossi 1 collaboration

Paolo Peruzzo 1 collaboration

Rosalia Dariol 1 collaboration

Annalisa Sechi 1 collaboration

Federica Deodato 1 collaboration

Claudio Caccia 1 collaboration

Daniela Verrigni 1 collaboration

Serena Gasperini 1 collaboration

Agata Fiumara 1 collaboration

Simona Fecarotta 1 collaboration

Miryam Carecchio 1 collaboration

Massimiliano Filosto 1 collaboration

Lucia Santoro 1 collaboration

Barbara Borroni 1 collaboration

Andrea Bordugo 1 collaboration

Cinzia V Russo 1 collaboration

Maja Di Rocco 1 collaboration

Antonio Toscano 1 collaboration

Maurizio Scarpa 1 collaboration

Carmela Fusco 1 collaboration

Grazia Nardella 1 collaboration

Rita Fischetto 1 collaboration

Massimiliano Copetti 1 collaboration

Antonio Petracca 1 collaboration

Francesca Annunziata 1 collaboration

Bartolomeo Augello 1 collaboration

Maria Cecilia D'Asdia 1 collaboration

Simona Petrucci 1 collaboration

Annalisa Rella 1 collaboration

Tommaso Biagini 1 collaboration

Francesco Andrea Causio 1 collaboration

Camilla Caldarini 1 collaboration

Vito Guarnieri 1 collaboration

Lucia Micale 1 collaboration

Leonardo D'Agruma 1 collaboration

Marco Salvatore 1 collaboration

Agata Polizzi 1 collaboration

Maria Chiara De Stefano 1 collaboration

Giovanna Floridia 1 collaboration

Simone Baldovino 1 collaboration

Dario Roccatello 1 collaboration

Savino Sciascia 1 collaboration

Elisa Menegatti 1 collaboration

Giuseppe Remuzzi 1 collaboration

Erica Daina 1 collaboration

Paraskevas Iatropoulos 1 collaboration

Rosalia Maria Da Riol 1 collaboration

Alessandra Ferlini 1 collaboration

Marcella Neri 1 collaboration

Domenica Taruscio 1 collaboration

Brigitta M Laksono 1 collaboration

Bernadien M Nijmeijer 1 collaboration

Rory D de Vries 1 collaboration

Thijs Kuiken 1 collaboration

Teunis B H Geijtenbeek 1 collaboration

W Paul Duprex 1 collaboration

Rik L de Swart 1 collaboration

Luciano Calzari 1 collaboration

Francesca Piceci-Sparascio 1 collaboration

Tommaso Mazza 1 collaboration

Enza Maria Valente 1 collaboration

Leila Bagherjad Salehi 1 collaboration

Romano Tenconi 1 collaboration

Luigi Corsaro 1 collaboration

Silvia Castelletti 1 collaboration

Alessandro Zorzi 1 collaboration

Enrico Ballardini 1 collaboration

Cristina Basso 1 collaboration

Alessandro Biffi 1 collaboration

Elena Cavarretta 1 collaboration

Lia Crotti 1 collaboration

Maurizio Contursi 1 collaboration

Antonio D'Aleo 1 collaboration

Flavio D'Ascenzi 1 collaboration

Pietro Delise 1 collaboration

Antonio Dello Russo 1 collaboration

Giovanni Gazale 1 collaboration

Lucio Mos 1 collaboration

Valeria Novelli 1 collaboration

Zefferino Palamà 1 collaboration

Stefano Palermi 1 collaboration

Vincenzo Palmieri 1 collaboration

Giampiero Patrizi 1 collaboration

Antonio Pelliccia 1 collaboration

Kalliopi Pilichou 1 collaboration

Patrizio Sarto 1 collaboration

Peter J Schwartz 1 collaboration

Monica Tiberi 1 collaboration

Paolo Zeppilli 1 collaboration

Domenico Corrado 1 collaboration

Luigi Sciarra 1 collaboration

V Quinzi 1 collaboration

C De Luca 1 collaboration

F Giovannetti 1 collaboration

A Splendiani 1 collaboration

D Cocciadiferro 1 collaboration

R Capolino 1 collaboration

G Marzo 1 collaboration

Ilaria Parenti 1 collaboration

Elsa Leitão 1 collaboration

Laurent Villard 1 collaboration

Cyril Goizet 1 collaboration

Cécile Courdier 1 collaboration

Allan Bayat 1 collaboration

Alessandra Rossi 1 collaboration

Sophie Julia 1 collaboration

Ange-Line Bruel 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Sophie Nambot 1 collaboration

Daphné Lehalle 1 collaboration

Marjolaine Willems 1 collaboration

James Lespinasse 1 collaboration

Jamal Ghoumid 1 collaboration

Roseline Caumes 1 collaboration

Thomas Smol 1 collaboration

Salima El Chehadeh 1 collaboration

Elise Schaefer 1 collaboration

Marie-Thérèse Abi-Warde 1 collaboration

Alexandra Afenjar 1 collaboration

Anna Maruani 1 collaboration

Ángel Aledo-Serrano 1 collaboration

Waltraud Garming 1 collaboration

Clara Milleret-Pignot 1 collaboration

Anna Chassevent 1 collaboration

Marije Koopmans 1 collaboration

Nienke E Verbeek 1 collaboration

Richard Person 1 collaboration

Rebecca Belles 1 collaboration

Gary Bellus 1 collaboration

Bonnie A Salbert 1 collaboration

Frank J Kaiser 1 collaboration

Laure Mazzola 1 collaboration

Philippe Convers 1 collaboration

Laurine Perrin 1 collaboration

Amélie Piton 1 collaboration

S Caroselli 1 collaboration

M Figliuzzi 1 collaboration

L Picchetta 1 collaboration

F Cogo 1 collaboration

P Zambon 1 collaboration

I Pergher 1 collaboration

L Girardi 1 collaboration

C Patassini 1 collaboration

M Poli 1 collaboration

D Bakalova 1 collaboration

D Cimadomo 1 collaboration

N Findikli 1 collaboration

O Coban 1 collaboration

M Serdarogullari 1 collaboration

F Favero 1 collaboration

S Bortolato 1 collaboration

A Anastasi 1 collaboration

F Capodanno 1 collaboration

A Gallinelli 1 collaboration

L Rienzi 1 collaboration

F M Ubaldi 1 collaboration

J Jimenez-Almazán 1 collaboration

D Blesa-Jarque 1 collaboration

J Miravet-Valenciano 1 collaboration

C Rubio 1 collaboration

C Simòn 1 collaboration

A Capalbo 1 collaboration

Eleonora Cilli 1 collaboration

Federica Guerra 1 collaboration

Jessica Ranieri 1 collaboration

Dina Di Giacomo 1 collaboration

Liliana Mannucci 1 collaboration

Serena Luciano 1 collaboration

Leila B Salehi 1 collaboration

Chiara Conte 1 collaboration

Giuliana Longo 1 collaboration

Valentina Ferradini 1 collaboration

Nunzia Piumelli 1 collaboration

Giovanni Ruvolo 1 collaboration

Gianluca Cestra 1 collaboration

Angelo Salvatore Ferraro 1 collaboration

Luigi Uccioli 1 collaboration

Daniele Castiglia 1 collaboration

Barbara De Angelis 1 collaboration

Ingo Kurth 1 collaboration

Arjan C Houweling 1 collaboration

Glenda M Beaman 1 collaboration

Alex V Postma 1 collaboration

T Blair Gainous 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Filipa M Lopes 1 collaboration

Ingeborg van der Made 1 collaboration

Abeltje M Polstra 1 collaboration

Michael L Robinson 1 collaboration

Kevin D Wright 1 collaboration

Jamie M Ellingford 1 collaboration

Ashley R Jackson 1 collaboration

Eline Overwater 1 collaboration

Rita Genesio 1 collaboration

Emanuela D'Angelo 1 collaboration

Elizabeth J Meijers-Heijboer 1 collaboration

Vincent M Christoffels 1 collaboration

Kirk M McHugh 1 collaboration

Brian L Black 1 collaboration

William G Newman 1 collaboration

Adrian S Woolf 1 collaboration

Esther E Creemers 1 collaboration

Mark A Corbett 1 collaboration

Thessa Kroes 1 collaboration

Liana Veneziano 1 collaboration

Mark F Bennett 1 collaboration

Rahel Florian 1 collaboration

Amy L Schneider 1 collaboration

Antonietta Coppola 1 collaboration

Laura Licchetta 1 collaboration

Silvana Franceschetti 1 collaboration

Aaron Wenger 1 collaboration

Davide Mei 1 collaboration

Manuela Pendziwiat 1 collaboration

Sabine Kaya 1 collaboration

Massimo Delledonne 1 collaboration

Rachel Straussberg 1 collaboration

Luciano Xumerle 1 collaboration

Brigid Regan 1 collaboration

Douglas Crompton 1 collaboration

Anne-Fleur van Rootselaar 1 collaboration

Anthony Correll 1 collaboration

Rachael Catford 1 collaboration

Francesca Bisulli 1 collaboration

Shreyasee Chakraborty 1 collaboration

Sara Baldassari 1 collaboration

Paolo Tinuper 1 collaboration

Kirston Barton 1 collaboration

Shaun Carswell 1 collaboration

Martin Smith 1 collaboration

Alfredo Berardelli 1 collaboration

Renee Carroll 1 collaboration

Alison Gardner 1 collaboration

Kathryn L Friend 1 collaboration

Ilan Blatt 1 collaboration

Carlo Di Bonaventura 1 collaboration

Julien Buratti 1 collaboration

Caroline Nava 1 collaboration

Sylvie Forlani 1 collaboration

Gabrielle Rudolf 1 collaboration

Edouard Hirsch 1 collaboration

Eric Leguern 1 collaboration

Pierre Labauge 1 collaboration

Simona Balestrini 1 collaboration

Josemir W Sander 1 collaboration

Zaid Afawi 1 collaboration

Hiroyuki Ishiura 1 collaboration

Shoji Tsuji 1 collaboration

Sanjay M Sisodiya 1 collaboration

Giorgio Casari 1 collaboration

Lynette G Sadleir 1 collaboration

Riaan van Coller 1 collaboration

Marina A J Tijssen 1 collaboration

Karl Martin Klein 1 collaboration

Arn M J M van den Maagdenberg 1 collaboration

Tommaso Pippucci 1 collaboration

Laura Canafoglia 1 collaboration

Melanie Bahlo 1 collaboration

Ingrid E Scheffer 1 collaboration

Jozef Gecz 1 collaboration

Dianne Laboy Cintron 1 collaboration

Alison M Muir 1 collaboration

Abbey Scott 1 collaboration

Marie McDonald 1 collaboration

Kristin G Monaghan 1 collaboration

Teresa Santiago-Sim 1 collaboration

Ingrid M Wentzensen 1 collaboration

David J Harris 1 collaboration

Cecilia Goueli 1 collaboration

Rolf Stottmann 1 collaboration

Carlos E Prada 1 collaboration

Marta Biderman Waberski 1 collaboration

Heather C Mefford 1 collaboration

Laura C Bott 1 collaboration

Mitra Forouhan 1 collaboration

Maria Lieto 1 collaboration

Ambre J Sala 1 collaboration

Ruth Ellerington 1 collaboration

Janel O Johnson 1 collaboration

Alfina A Speciale 1 collaboration

Chiara Criscuolo 1 collaboration

Alessandro Filla 1 collaboration

David Chitayat 1 collaboration

Ebba Alkhunaizi 1 collaboration

Patrick Shannon 1 collaboration

Andrea H Nemeth 1 collaboration

Wooi Fang Lim 1 collaboration

Mikko Muona 1 collaboration

Carolina Courage 1 collaboration

Anna-Elina Lehesjoki 1 collaboration

Kenneth H Fischbeck 1 collaboration

Richard I Morimoto 1 collaboration

Matthew J A Wood 1 collaboration

Carlo Rinaldi 1 collaboration

Francesca Piceci Sparascio 1 collaboration

Francesco Pancheri 1 collaboration

Dario Cocciadiferro 1 collaboration

Marianna Puzzo 1 collaboration

Marina Goldoni 1 collaboration

Chiara Barone 1 collaboration

Hossein Hozhabri 1 collaboration

Carolina Putotto 1 collaboration

Orazio Palumbo 1 collaboration

Franco Stanzial 1 collaboration

Francesco Benedicenti 1 collaboration

Ariana Kariminejad 1 collaboration

Leila Baghernajad Salehi 1 collaboration

Massimo Carella 1 collaboration

Bruno Marino 1 collaboration

Marco Tartaglia 1 collaboration

Malek Bouassida 1 collaboration

Matthieu Egloff 1 collaboration

Gwenaël Le Guyader 1 collaboration

Caroline Schluth-Bolard 1 collaboration

Rodolphe Dard 1 collaboration

Juliette Clorennec 1 collaboration

Juliette Coursimault 1 collaboration

François Vialard 1 collaboration

Bérénice Hervé 1 collaboration

Adrian F Daly 1 collaboration

Leslie A Dunnington 1 collaboration

David F Rodriguez-Buritica 1 collaboration

Erica Spiegel 1 collaboration

Giovanna Mantovani 1 collaboration

Vandana M Rawal 1 collaboration

Fabio Rueda Faucz 1 collaboration

Hadia Hijazi 1 collaboration

Jean-Hubert Caberg 1 collaboration

Giulia Del Sindaco 1 collaboration

Marta Ragonese 1 collaboration

Helen Gould 1 collaboration

Salvatore Cannavò 1 collaboration

Patrick Pétrossians 1 collaboration

Andrea Lania 1 collaboration

James R Lupski 1 collaboration

Albert Beckers 1 collaboration

Constantine A Stratakis 1 collaboration

Brynn Levy 1 collaboration

Giampaolo Trivellin 1 collaboration

Martin Franke 1 collaboration

Simonetta Picone 1 collaboration

Simone Marziali 1 collaboration

Silvia Morlino 1 collaboration

Gianpiero Tamburrini 1 collaboration

Piermichele Paolillo 1 collaboration

Dong Li 1 collaboration

Michael E March 1 collaboration

Liza L Cox 1 collaboration

Leticia S Matsuoka 1 collaboration

Christoph Seiler 1 collaboration

Louise C Pyle 1 collaboration

Emma C Bedoukian 1 collaboration

María José Sánchez-Soler 1 collaboration

Oana Caluseriu 1 collaboration

Katheryn Grand 1 collaboration

Allison Tam 1 collaboration

Alicia R P Aycinena 1 collaboration

Yiran Guo 1 collaboration

Patrick Sleiman 1 collaboration

Bert Callewaert 1 collaboration

Candy Kumps 1 collaboration

Annelies Dheedene 1 collaboration

Michael Buckley 1 collaboration

Edwin P Kirk 1 collaboration

Anne Turner 1 collaboration

Benjamin Kamien 1 collaboration

Chirag Patel 1 collaboration

Meredith Wilson 1 collaboration

Tony Roscioli 1 collaboration

John Christodoulou 1 collaboration

Timothy C Cox 1 collaboration

Elaine H Zackai 1 collaboration

Hakon Hakonarson 1 collaboration

Elizabeth J Bhoj 1 collaboration

Rachel L Taylor 1 collaboration

Claudio Coco 1 collaboration

Francesca Piludu 1 collaboration

Antonello Vidiri 1 collaboration

Graeme Black 1 collaboration

Fabiana Guizzardi 1 collaboration

Laura Libera 1 collaboration

Anna Marozzi 1 collaboration

Costanzo Moretti 1 collaboration

Marco Bonomi 1 collaboration

Marcello Scala 1 collaboration

Caterina Cerminara 1 collaboration

Antonella Riva 1 collaboration

Barbara Carlini 1 collaboration

Vincenzo Belcastro 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Nerses Bebek 1 collaboration

Paolo Scudieri 1 collaboration

Simona Baldassari 1 collaboration

Vincenzo Salpietro 1 collaboration

Celina von Stülpnagel 1 collaboration

Felicitas Kluger 1 collaboration

Gerhard Josef Kluger 1 collaboration

Gabriele Christine Wohlrab 1 collaboration

Georgia Ramantani 1 collaboration

Ming Lai 1 collaboration

Alberto Verrotti 1 collaboration

Carlo Minetti 1 collaboration

Chiara Rigon 1 collaboration

Francesca Boaretto 1 collaboration

Nicoletta Zoppi 1 collaboration

Luana Di Leandro 1 collaboration

Emanuela De Domenico 1 collaboration

Arianna Di Daniele 1 collaboration

Rodolfo Ippoliti 1 collaboration

Ernesto Di Cesare 1 collaboration

Ruggero De Paulis 1 collaboration

Peter James Fredericks 1 collaboration

Matthew Rabinowitz 1 collaboration

James Liu 1 collaboration

Alex Solomon 1 collaboration

Andrew Cohen 1 collaboration

Bjørt K Kragesteen 1 collaboration

Stefan Mundlos 1 collaboration

Susana Isabel Ferreira 1 collaboration

Lina Ramos 1 collaboration

Luís Miguel Pires 1 collaboration

Cinzia Galasso 1 collaboration

Fernando De Maio 1 collaboration

Joana Barbosa de Melo 1 collaboration

Isabel Marques Carreira 1 collaboration

Katrine M Johannesen 1 collaboration

Diana Mitter 1 collaboration

Robert Janowski 1 collaboration

Christian Roth 1 collaboration

Joseph Toulouse 1 collaboration

Anne-Lise Poulat 1 collaboration

Dorothee M Ville 1 collaboration

Eva Brilstra 1 collaboration

Karin Geleijns 1 collaboration

Alfred Peter Born 1 collaboration

Scott McLean 1 collaboration

Kimberly Nugent 1 collaboration

Gareth Baynam 1 collaboration

Cathryn Poulton 1 collaboration

Lauren Dreyer 1 collaboration

Dylan Gration 1 collaboration

Solveig Schulz 1 collaboration

Andrea Dieckmann 1 collaboration

Katherine L Helbig 1 collaboration

Andreas Merkenschlager 1 collaboration

Rami Jamra 1 collaboration

Anja Finck 1 collaboration

Elena Gardella 1 collaboration

Helle Hjalgrim 1 collaboration

Ghayda Mirzaa 1 collaboration

Tatjana Bierhals 1 collaboration

Jonas Denecke 1 collaboration

Maja Hempel 1 collaboration

Johannes R Lemke 1 collaboration

Guido Rubboli 1 collaboration

Petra Muschke 1 collaboration

Annalisa Vetro 1 collaboration

Dierk Niessing 1 collaboration

Rikke S Møller 1 collaboration

Affiliations

Publications (33)

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Care manager, older adult, and caregiver perspectives on co-occurring care management among high-need older adults.

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology.

First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.

The different clinical facets of

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses.

Patient perspective in perceived comparative genetic mutation risk: An exploratory review.

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

A recurrent,

Variants in

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

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.

Craniosynostosis is a feature of CHD7-related CHARGE syndrome.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Conservative management of scrotal pyoceles - A case series and literature review.

Tremor is a major feature of 9p13 deletion syndrome.

Defining and expanding the phenotype of

Réseau de co-auteurs