Elena Repnikova

Shivarajan M Amudhavalli 3 collaborations

Frederic Tran Mau-Them 2 collaborations

Kendra Engleman 2 collaborations

Annick Toutain 2 collaborations

Dominique Bonneau 2 collaborations

Weijie Li 2 collaborations

Isabelle Thiffault 2 collaborations

Lei Zhang 2 collaborations

Sonal Sharma 1 collaboration

Janelle R Noel-MacDonnell 1 collaboration

Jean-Baptiste LePichon 1 collaboration

Kévin Uguen 1 collaboration

Kilannin Krysiak 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Sylvia Redon 1 collaboration

Caroline Benech 1 collaboration

Eléonore Viora-Dupont 1 collaboration

Sophie Rondeau 1 collaboration

Ibrahim Elsharkawi 1 collaboration

Jorge L Granadillo 1 collaboration

Julie Neidich 1 collaboration

Celia Azevedo Soares 1 collaboration

Natáliya Tkachenko 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Stéphane Bezieau 1 collaboration

Sylvie Odent 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Laurence Faivre 1 collaboration

Marlène Rio 1 collaboration

Cedric Le Marechal 1 collaboration

Claude Ferec 1 collaboration

Yang Cao 1 collaboration

Atif A Ahmed 1 collaboration

Divya Vundamati 1 collaboration

Midhat Farooqi 1 collaboration

Timothy Zinkus 1 collaboration

Maxine Hetherington 1 collaboration

Lorien Paulson 1 collaboration

Mariana R Botton 1 collaboration

Xingwu Lu 1 collaboration

Geping Zhao 1 collaboration

Yoshinori Seki 1 collaboration

Andrea Gaedigk 1 collaboration

Eric E Schadt 1 collaboration

Lisa Edelmann 1 collaboration

Stuart A Scott 1 collaboration

Jennifer Roberts 1 collaboration

Sarah Mc Dermott 1 collaboration

Midhat S Farooqi 1 collaboration

Nazia Tabassum Iqbal 1 collaboration

Michael Silvey 1 collaboration

Jdl Nolen 1 collaboration

Eugenio Taboada 1 collaboration

Elizabeth J Bhoj 1 collaboration

Damien Haye 1 collaboration

Irene Kibæk Nielsen 1 collaboration

Ida Bay Lund 1 collaboration

Pauline Bogaard 1 collaboration

Stine Leenskjold 1 collaboration

Kadri Karaer 1 collaboration

Katherine T Wild 1 collaboration

Katheryn L Grand 1 collaboration

Mirena C Astiazaran 1 collaboration

Luis A Gonzalez-Nieto 1 collaboration

Ana Carvalho 1 collaboration

Daphné Lehalle 1 collaboration

Carol Saunders 1 collaboration

Irfan Saadi 1 collaboration

Dong Li 1 collaboration

Hakon Hakonarson 1 collaboration

Yoann Vial 1 collaboration

Elaine Zackai 1 collaboration

Patrick Callier 1 collaboration

Séverine Drunat 1 collaboration

Alain Verloes 1 collaboration

Laura E Brown 1 collaboration

Laurel M Bowen 1 collaboration

Laura C McCarthy 1 collaboration

Linda D Cooley 1 collaboration

Melissa A Gener 1 collaboration

Robert Garola 1 collaboration

Keith J August 1 collaboration

J Allyson Hays 1 collaboration

David L Zwick 1 collaboration

Agustí Rodríguez-Palmero 1 collaboration

Melissa Maria Boerrigter 1 collaboration

David Gómez-Andrés 1 collaboration

Kimberly A Aldinger 1 collaboration

Íñigo Marcos-Alcalde 1 collaboration

Bernt Popp 1 collaboration

David B Everman 1 collaboration

Alysia Kern Lovgren 1 collaboration

Stephanie Arpin 1 collaboration

Vahid Bahrambeigi 1 collaboration

Gea Beunders 1 collaboration

Anne-Marie Bisgaard 1 collaboration

V A Bjerregaard 1 collaboration

Ange-Line Bruel 1 collaboration

Thomas D Challman 1 collaboration

Benjamin Cogné 1 collaboration

Christine Coubes 1 collaboration

Stella A de Man 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Thomas J Dye 1 collaboration

Frances Elmslie 1 collaboration

Lars Feuk 1 collaboration

Sixto García-Miñaúr 1 collaboration

Tracy Gertler 1 collaboration

Elisa Giorgio 1 collaboration

Nicolas Gruchy 1 collaboration

Tobias B Haack 1 collaboration

Chad R Haldeman-Englert 1 collaboration

Bjørn Ivar Haukanes 1 collaboration

Juliane Hoyer 1 collaboration

Anna C E Hurst 1 collaboration

Bertrand Isidor 1 collaboration

Maria Johansson Soller 1 collaboration

Sulagna Kushary 1 collaboration

Malin Kvarnung 1 collaboration

Yuval E Landau 1 collaboration

Kathleen A Leppig 1 collaboration

Anna Lindstrand 1 collaboration

Lotte Kleinendorst 1 collaboration

Alex MacKenzie 1 collaboration

Giorgia Mandrile 1 collaboration

Bryce A Mendelsohn 1 collaboration

Setareh Moghadasi 1 collaboration

Jenny E Morton 1 collaboration

Sebastien Moutton 1 collaboration

Amelie J Müller 1 collaboration

Melanie O'Leary 1 collaboration

Marta Pacio-Míguez 1 collaboration

Maria Palomares-Bralo 1 collaboration

Sumit Parikh 1 collaboration

Rolph Pfundt 1 collaboration

Ben Pode-Shakked 1 collaboration

Anita Rauch 1 collaboration

Anya Revah-Politi 1 collaboration

Meredith J Ross 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Elisabeth Sarrazin 1 collaboration

Juliann M Savatt 1 collaboration

Agatha Schlüter 1 collaboration

Bitten Schönewolf-Greulich 1 collaboration

Zohra Shad 1 collaboration

Charles Shaw-Smith 1 collaboration

Joseph T Shieh 1 collaboration

Motti Shohat 1 collaboration

Stephanie Spranger 1 collaboration

Heidi Thiese 1 collaboration

Bregje van Bon 1 collaboration

Ineke van de Burgt 1 collaboration

Ingrid M B H van de Laar 1 collaboration

Esmée van Drie 1 collaboration

Mieke M van Haelst 1 collaboration

Conny M van Ravenswaaij-Arts 1 collaboration

Edgard Verdura 1 collaboration

Antonio Vitobello 1 collaboration

Stephan Waldmüller 1 collaboration

Sharon Whiting 1 collaboration

Christiane Zweier 1 collaboration

Carlos E Prada 1 collaboration

Bert B A de Vries 1 collaboration

William B Dobyns 1 collaboration

Simone F Reiter 1 collaboration

Paulino Gómez-Puertas 1 collaboration

Aurora Pujol 1 collaboration

Zeynep Tümer 1 collaboration

Maxime Cadieux-Dion 1 collaboration

Emily Farrow 1 collaboration

Ana S A Cohen 1 collaboration

Holly Welsh 1 collaboration

Lauren Bartik 1 collaboration

Caitlin Schwager 1 collaboration

Dihong Zhou 1 collaboration

Carol J Saunders 1 collaboration

Affiliations

Publications (9)

Diagnostic yield of genetic testing in 324 infants with hypotonia.

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors.

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.

Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Application of 2016 WHO classification in the diagnosis of paediatric high-grade

DLG4-related synaptopathy: a new rare brain disorder.

Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.

Réseau de co-auteurs