Robert Roger Lebel

Affiliations

Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, USA.

Publications (3)

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

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

Avec: Víctor Faundes , Stephanie Goh , Rhoda Akilapa , Heidre Bezuidenhout , Hans T Bjornsson , Lisa Bradley , Angela F Brady , Elise Brischoux-Boucher , Han Brunner , Saskia Bulk , Natalie Canham , Declan Cody , Maria Lisa Dentici , Maria Cristina Digilio , Frances Elmslie , Andrew E Fry , Harinder Gill , Jane Hurst , Diana Johnson , Sophie Julia , Katherine Lachlan , Melissa Byler , Eric Gershon , Edmond Lemire , Maria Gnazzo , Francesca Romana Lepri , Antonia Marchese , Meriel McEntagart , Julie McGaughran , Seiji Mizuno , Nobuhiko Okamoto , Claudine Rieubland , Jonathan Rodgers , Erina Sasaki , Emmanuel Scalais , Ingrid Scurr , Mohnish Suri , Ineke van der Burgt , Naomichi Matsumoto , Noriko Miyake , Valérie Benoit , Damien Lederer , Siddharth Banka

Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.

Clinical case reports

Avec: Dawn Brianna Lammert , David Miedema , Josiree Ochotorena , Nienke Dosa , Kalliopi Petropoulou , Roger Robert Lebel , Ai Sakonju

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Genome medicine

Avec: Margot A Cousin , Emma L Veale , Nikita R Dsouza , Swarnendu Tripathi , Robyn G Holden , Maria Arelin , Geoffrey Beek , Mir Reza Bekheirnia , Jasmin Beygo , Vikas Bhambhani , Martin Bialer , Stefania Bigoni , Cyrus Boelman , Jenny Carmichael , Thomas Courtin , Benjamin Cogne , Ivana Dabaj , Diane Doummar , Laura Fazilleau , Alessandra Ferlini , Ralitza H Gavrilova , John M Graham , Tobias B Haack , Jane Juusola , Sarina G Kant , Saima Kayani , Boris Keren , Petra Ketteler , Chiara Klöckner , Tamara T Koopmann , Teresa M Kruisselbrink , Alma Kuechler , Laëtitia Lambert , Xénia Latypova , Magalie S Leduc , Emanuela Leonardi , Andrea M Lewis , Wendy Liew , Keren Machol , Samir Mardini , Kirsty McWalter , Cyril Mignot , Julie McLaughlin , Alessandra Murgia , Vinodh Narayanan , Caroline Nava , Sonja Neuser , Mathilde Nizon , Davide Ognibene , Joohyun Park , Konrad Platzer , Céline Poirsier , Maximilian Radtke , Keri Ramsey , Cassandra K Runke , Maria J Guillen Sacoto , Fernando Scaglia , Marwan Shinawi , Stephanie Spranger , Ee Shien Tan , John Taylor , Anne-Sophie Trentesaux , Filippo Vairo , Rebecca Willaert , Neda Zadeh , Raul Urrutia , Dusica Babovic-Vuksanovic , Michael T Zimmermann , Alistair Mathie , Eric W Klee

Réseau de co-auteurs

Víctor Faundes 1 collaboration

Stephanie Goh 1 collaboration

Rhoda Akilapa 1 collaboration

Heidre Bezuidenhout 1 collaboration

Hans T Bjornsson 1 collaboration

Lisa Bradley 1 collaboration

Angela F Brady 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Han Brunner 1 collaboration

Saskia Bulk 1 collaboration

Natalie Canham 1 collaboration

Declan Cody 1 collaboration

Maria Lisa Dentici 1 collaboration

Maria Cristina Digilio 1 collaboration

Frances Elmslie 1 collaboration

Andrew E Fry 1 collaboration

Harinder Gill 1 collaboration

Jane Hurst 1 collaboration

Diana Johnson 1 collaboration

Sophie Julia 1 collaboration

Katherine Lachlan 1 collaboration

Melissa Byler 1 collaboration

Eric Gershon 1 collaboration

Edmond Lemire 1 collaboration

Maria Gnazzo 1 collaboration

Francesca Romana Lepri 1 collaboration

Antonia Marchese 1 collaboration

Meriel McEntagart 1 collaboration

Julie McGaughran 1 collaboration

Seiji Mizuno 1 collaboration

Nobuhiko Okamoto 1 collaboration

Claudine Rieubland 1 collaboration

Jonathan Rodgers 1 collaboration

Erina Sasaki 1 collaboration

Emmanuel Scalais 1 collaboration

Ingrid Scurr 1 collaboration

Mohnish Suri 1 collaboration

Ineke van der Burgt 1 collaboration

Naomichi Matsumoto 1 collaboration

Noriko Miyake 1 collaboration

Valérie Benoit 1 collaboration

Damien Lederer 1 collaboration

Siddharth Banka 1 collaboration

Dawn Brianna Lammert 1 collaboration

David Miedema 1 collaboration

Josiree Ochotorena 1 collaboration

Nienke Dosa 1 collaboration

Kalliopi Petropoulou 1 collaboration

Ai Sakonju 1 collaboration

Margot A Cousin 1 collaboration

Emma L Veale 1 collaboration

Nikita R Dsouza 1 collaboration

Swarnendu Tripathi 1 collaboration

Robyn G Holden 1 collaboration

Maria Arelin 1 collaboration

Geoffrey Beek 1 collaboration

Mir Reza Bekheirnia 1 collaboration

Jasmin Beygo 1 collaboration

Vikas Bhambhani 1 collaboration

Martin Bialer 1 collaboration

Stefania Bigoni 1 collaboration

Cyrus Boelman 1 collaboration

Jenny Carmichael 1 collaboration

Thomas Courtin 1 collaboration

Benjamin Cogne 1 collaboration

Ivana Dabaj 1 collaboration

Diane Doummar 1 collaboration

Laura Fazilleau 1 collaboration

Alessandra Ferlini 1 collaboration

Ralitza H Gavrilova 1 collaboration

John M Graham 1 collaboration

Tobias B Haack 1 collaboration

Jane Juusola 1 collaboration

Sarina G Kant 1 collaboration

Saima Kayani 1 collaboration

Boris Keren 1 collaboration

Petra Ketteler 1 collaboration

Chiara Klöckner 1 collaboration

Tamara T Koopmann 1 collaboration

Teresa M Kruisselbrink 1 collaboration

Alma Kuechler 1 collaboration

Laëtitia Lambert 1 collaboration

Xénia Latypova 1 collaboration

Magalie S Leduc 1 collaboration

Emanuela Leonardi 1 collaboration

Andrea M Lewis 1 collaboration

Wendy Liew 1 collaboration

Keren Machol 1 collaboration

Samir Mardini 1 collaboration

Kirsty McWalter 1 collaboration

Cyril Mignot 1 collaboration

Julie McLaughlin 1 collaboration

Alessandra Murgia 1 collaboration

Vinodh Narayanan 1 collaboration

Caroline Nava 1 collaboration

Sonja Neuser 1 collaboration

Mathilde Nizon 1 collaboration

Davide Ognibene 1 collaboration

Joohyun Park 1 collaboration

Konrad Platzer 1 collaboration

Céline Poirsier 1 collaboration

Maximilian Radtke 1 collaboration

Keri Ramsey 1 collaboration

Cassandra K Runke 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Fernando Scaglia 1 collaboration

Marwan Shinawi 1 collaboration

Stephanie Spranger 1 collaboration

Ee Shien Tan 1 collaboration

John Taylor 1 collaboration

Anne-Sophie Trentesaux 1 collaboration

Filippo Vairo 1 collaboration

Rebecca Willaert 1 collaboration

Neda Zadeh 1 collaboration

Raul Urrutia 1 collaboration

Dusica Babovic-Vuksanovic 1 collaboration

Michael T Zimmermann 1 collaboration

Alistair Mathie 1 collaboration

Eric W Klee 1 collaboration