Sandra Whalen

Affiliations

Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris, France.

Publications (8)

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Clinical genetics

Avec: Marcella Zollino , Christiane Zweier , Ingrid D Van Balkom , David A Sweetser , Joseph Alaimo , Emilia K Bijlsma , Jannine Cody , Sarah H Elsea , Irina Giurgea , Marina Macchiaiolo , Robert Smigiel , Ronald L Thibert , Ingrid Benoist , Jill Clayton-Smith , Channa F De Winter , Stijn Deckers , Anusha Gandhi , Sylvia Huisman , Dagmar Kempink , Frea Kruisinga , Vittoria Lamacchia , Giuseppe Marangi , Leonie Menke , Paul Mulder , Ann Nordgren , Alessandra Renieri , Sue Routledge , Carol J Saunders , Agnieszka Stembalska , Hans Van Balkom , Raoul C Hennekam

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

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

Avec: Karin Weiss , Hayley P Lazar , Alina Kurolap , Ariel F Martinez , Tamar Paperna , Lior Cohen , Marie F Smeland , Solveig Heide , Boris Keren , Pauline Terhal , Melita Irving , Motoki Takaku , John D Roberts , Robert M Petrovich , Samantha A Schrier Vergano , Amy Kenney , Hanne Hove , Elizabeth DeChene , Shane C Quinonez , Estelle Colin , Alban Ziegler , Melissa Rumple , Mahim Jain , Danielle Monteil , Elizabeth R Roeder , Kimberly Nugent , Arie van Haeringen , Michael Gambello , Avni Santani , Līvija Medne , Bryan Krock , Cara M Skraban , Elaine H Zackai , Holly A Dubbs , Thomas Smol , Jamal Ghoumid , Michael J Parker , Michael Wright , Peter Turnpenny , Jill Clayton-Smith , Kay Metcalfe , Hitoshi Kurumizaka , Bruce D Gelb , Hagit Baris Feldman , Philippe M Campeau , Maximilian Muenke , Paul A Wade , Katherine Lachlan

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

Frontiers in physiology

Avec: Ivan K Popov , Susan M Hiatt , Boris Keren , Claudia Ruivenkamp , Arie van Haeringen , Mei-Jan Chen , Gregory M Cooper , Bruce R Korf , Chenbei Chang

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

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

Avec: Erin Torti , Boris Keren , Elizabeth E Palmer , Zehua Zhu , Alexandra Afenjar , Ilse J Anderson , Marisa V Andrews , Celia Atkinson , Margaret Au , Susan A Berry , Kevin M Bowling , Jackie Boyle , Julien Buratti , Sara S Cathey , Perrine Charles , Benjamin Cogne , Thomas Courtin , Luis F Escobar , Sabra Ledare Finley , John M Graham , Dorothy K Grange , Delphine Heron , Stacy Hewson , Susan M Hiatt , Kathleen A Hibbs , Parul Jayakar , Louisa Kalsner , Lise Larcher , Gaetan Lesca , Paul R Mark , Kathryn Miller , Caroline Nava , Mathilde Nizon , G Shashidhar Pai , John Pappas , Gretchen Parsons , Katelyn Payne , Audrey Putoux , Rachel Rabin , Isabelle Sabatier , Marwan Shinawi , Natasha Shur , Steven A Skinner , Stephanie Valence , Hannah Warren , Amy Crunk , Ganka Douglas , Kristin G Monaghan , Richard E Person , Rebecca Willaert , Benjamin D Solomon , Jane Juusola

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Human mutation

Avec: Simon Boussion , Fabienne Escande , Anne-Sophie Jourdain , Thomas Smol , Perrine Brunelle , Céline Duhamel , Yves Alembik , Tania Attié-Bitach , Geneviève Baujat , Anne Bazin , Maryse Bonnière , Philippe Carassou , Dominique Carles , Louise Devisme , Cyril Goizet , Alice Goldenberg , Sarah Grotto , Agnès Guichet , Pierre-Simon Jouk , Laurence Loeuillet , Charlotte Mechler , Caroline Michot , Fanny Pelluard , Audrey Putoux , Jamal Ghoumid , Sylvie Manouvrier-Hanu , Florence Petit

Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.

Annals of clinical and translational neurology

Avec: Ivana Dzinovic , Matej Škorvánek , Petra Pavelekova , Chen Zhao , Boris Keren , Somayeh Bakhtiari , Sheng Chih Jin , Michael C Kruer , Robert Jech , Juliane Winkelmann , Michael Zech

Utility of Postoperative Serial Renal Function Monitoring in Patients Undergoing Radical Cystectomy for Urothelial Carcinoma.

Annals of surgical oncology

Avec: Christopher Bitcon , Stewart Whalen , Jenna Coleman , Ricardo Rendon , Greg Bailly , David Bell , Ashley Cox , Jon Duplisea , Karthik Tenankore , Ross Mason

DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

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

Avec: Alinoë Lavillaureix , Paul Rollier , Artem Kim , Veranika Panasenkava , Marie De Tayrac , Wilfrid Carré , Hélène Guyodo , Marie Faoucher , Elisabeth Poirel , Linda Akloul , Chloe Quelin , Jessica Bos , Marjoleine Broekema , Johanna M van Hagen , Katheryn Grand , Michelle Allen-Sharpley , Emily Magness , Scott McLean , Hülya Kayserili , Umut Altunoglu , Angie En Qi Chong , Shifeng Xue , Mederic Jeanne , Naif Almontashiri , Wisam Habhab , Clemence Vanlerberghe , Laurence Faivre , Eleonore Viora Dupont , Christophe Philippe , Hana Safraou , Fanny Laffargue , Luisa Mittendorf , Rami Abou Jamra , Siddaramappa Jagdish Patil , Ashwin Dalal , Asodu Sandeep Sarma , Boris Keren , Bruno Reversade , Christèle Dubourg , Sylvie Odent , Valérie Dupé

Réseau de co-auteurs

Boris Keren 5 collaborations

Jill Clayton-Smith 2 collaborations

Arie van Haeringen 2 collaborations

Thomas Smol 2 collaborations

Jamal Ghoumid 2 collaborations

Susan M Hiatt 2 collaborations

Audrey Putoux 2 collaborations

Marcella Zollino 1 collaboration

Christiane Zweier 1 collaboration

Ingrid D Van Balkom 1 collaboration

David A Sweetser 1 collaboration

Joseph Alaimo 1 collaboration

Emilia K Bijlsma 1 collaboration

Jannine Cody 1 collaboration

Sarah H Elsea 1 collaboration

Irina Giurgea 1 collaboration

Marina Macchiaiolo 1 collaboration

Robert Smigiel 1 collaboration

Ronald L Thibert 1 collaboration

Ingrid Benoist 1 collaboration

Channa F De Winter 1 collaboration

Stijn Deckers 1 collaboration

Anusha Gandhi 1 collaboration

Sylvia Huisman 1 collaboration

Dagmar Kempink 1 collaboration

Frea Kruisinga 1 collaboration

Vittoria Lamacchia 1 collaboration

Giuseppe Marangi 1 collaboration

Leonie Menke 1 collaboration

Paul Mulder 1 collaboration

Ann Nordgren 1 collaboration

Alessandra Renieri 1 collaboration

Sue Routledge 1 collaboration

Carol J Saunders 1 collaboration

Agnieszka Stembalska 1 collaboration

Hans Van Balkom 1 collaboration

Raoul C Hennekam 1 collaboration

Karin Weiss 1 collaboration

Hayley P Lazar 1 collaboration

Alina Kurolap 1 collaboration

Ariel F Martinez 1 collaboration

Tamar Paperna 1 collaboration

Lior Cohen 1 collaboration

Marie F Smeland 1 collaboration

Solveig Heide 1 collaboration

Pauline Terhal 1 collaboration

Melita Irving 1 collaboration

Motoki Takaku 1 collaboration

John D Roberts 1 collaboration

Robert M Petrovich 1 collaboration

Samantha A Schrier Vergano 1 collaboration

Amy Kenney 1 collaboration

Hanne Hove 1 collaboration

Elizabeth DeChene 1 collaboration

Shane C Quinonez 1 collaboration

Estelle Colin 1 collaboration

Alban Ziegler 1 collaboration

Melissa Rumple 1 collaboration

Mahim Jain 1 collaboration

Danielle Monteil 1 collaboration

Elizabeth R Roeder 1 collaboration

Kimberly Nugent 1 collaboration

Michael Gambello 1 collaboration

Avni Santani 1 collaboration

Līvija Medne 1 collaboration

Bryan Krock 1 collaboration

Cara M Skraban 1 collaboration

Elaine H Zackai 1 collaboration

Holly A Dubbs 1 collaboration

Michael J Parker 1 collaboration

Michael Wright 1 collaboration

Peter Turnpenny 1 collaboration

Kay Metcalfe 1 collaboration

Hitoshi Kurumizaka 1 collaboration

Bruce D Gelb 1 collaboration

Hagit Baris Feldman 1 collaboration

Philippe M Campeau 1 collaboration

Maximilian Muenke 1 collaboration

Paul A Wade 1 collaboration

Katherine Lachlan 1 collaboration

Ivan K Popov 1 collaboration

Claudia Ruivenkamp 1 collaboration

Mei-Jan Chen 1 collaboration

Gregory M Cooper 1 collaboration

Bruce R Korf 1 collaboration

Chenbei Chang 1 collaboration

Erin Torti 1 collaboration

Elizabeth E Palmer 1 collaboration

Zehua Zhu 1 collaboration

Alexandra Afenjar 1 collaboration

Ilse J Anderson 1 collaboration

Marisa V Andrews 1 collaboration

Celia Atkinson 1 collaboration

Margaret Au 1 collaboration

Susan A Berry 1 collaboration

Kevin M Bowling 1 collaboration

Jackie Boyle 1 collaboration

Julien Buratti 1 collaboration

Sara S Cathey 1 collaboration

Perrine Charles 1 collaboration

Benjamin Cogne 1 collaboration

Thomas Courtin 1 collaboration

Luis F Escobar 1 collaboration

Sabra Ledare Finley 1 collaboration

John M Graham 1 collaboration

Dorothy K Grange 1 collaboration

Delphine Heron 1 collaboration

Stacy Hewson 1 collaboration

Kathleen A Hibbs 1 collaboration

Parul Jayakar 1 collaboration

Louisa Kalsner 1 collaboration

Lise Larcher 1 collaboration

Gaetan Lesca 1 collaboration

Paul R Mark 1 collaboration

Kathryn Miller 1 collaboration

Caroline Nava 1 collaboration

Mathilde Nizon 1 collaboration

G Shashidhar Pai 1 collaboration

John Pappas 1 collaboration

Gretchen Parsons 1 collaboration

Katelyn Payne 1 collaboration

Rachel Rabin 1 collaboration

Isabelle Sabatier 1 collaboration

Marwan Shinawi 1 collaboration

Natasha Shur 1 collaboration

Steven A Skinner 1 collaboration

Stephanie Valence 1 collaboration

Hannah Warren 1 collaboration

Amy Crunk 1 collaboration

Ganka Douglas 1 collaboration

Kristin G Monaghan 1 collaboration

Richard E Person 1 collaboration

Rebecca Willaert 1 collaboration

Benjamin D Solomon 1 collaboration

Jane Juusola 1 collaboration

Simon Boussion 1 collaboration

Fabienne Escande 1 collaboration

Anne-Sophie Jourdain 1 collaboration

Perrine Brunelle 1 collaboration

Céline Duhamel 1 collaboration

Yves Alembik 1 collaboration

Tania Attié-Bitach 1 collaboration

Geneviève Baujat 1 collaboration

Anne Bazin 1 collaboration

Maryse Bonnière 1 collaboration

Philippe Carassou 1 collaboration

Dominique Carles 1 collaboration

Louise Devisme 1 collaboration

Cyril Goizet 1 collaboration

Alice Goldenberg 1 collaboration

Sarah Grotto 1 collaboration

Agnès Guichet 1 collaboration

Pierre-Simon Jouk 1 collaboration

Laurence Loeuillet 1 collaboration

Charlotte Mechler 1 collaboration

Caroline Michot 1 collaboration

Fanny Pelluard 1 collaboration

Sylvie Manouvrier-Hanu 1 collaboration

Florence Petit 1 collaboration

Ivana Dzinovic 1 collaboration

Matej Škorvánek 1 collaboration

Petra Pavelekova 1 collaboration

Chen Zhao 1 collaboration

Somayeh Bakhtiari 1 collaboration

Sheng Chih Jin 1 collaboration

Michael C Kruer 1 collaboration

Robert Jech 1 collaboration

Juliane Winkelmann 1 collaboration

Michael Zech 1 collaboration

Christopher Bitcon 1 collaboration

Stewart Whalen 1 collaboration

Jenna Coleman 1 collaboration

Ricardo Rendon 1 collaboration

Greg Bailly 1 collaboration

David Bell 1 collaboration

Ashley Cox 1 collaboration

Jon Duplisea 1 collaboration

Karthik Tenankore 1 collaboration

Ross Mason 1 collaboration

Alinoë Lavillaureix 1 collaboration

Paul Rollier 1 collaboration

Artem Kim 1 collaboration

Veranika Panasenkava 1 collaboration

Marie De Tayrac 1 collaboration

Wilfrid Carré 1 collaboration

Hélène Guyodo 1 collaboration

Marie Faoucher 1 collaboration

Elisabeth Poirel 1 collaboration

Linda Akloul 1 collaboration

Chloe Quelin 1 collaboration

Jessica Bos 1 collaboration

Marjoleine Broekema 1 collaboration

Johanna M van Hagen 1 collaboration

Katheryn Grand 1 collaboration

Michelle Allen-Sharpley 1 collaboration

Emily Magness 1 collaboration

Scott McLean 1 collaboration

Hülya Kayserili 1 collaboration

Umut Altunoglu 1 collaboration

Angie En Qi Chong 1 collaboration

Shifeng Xue 1 collaboration

Mederic Jeanne 1 collaboration

Naif Almontashiri 1 collaboration

Wisam Habhab 1 collaboration

Clemence Vanlerberghe 1 collaboration

Laurence Faivre 1 collaboration

Eleonore Viora Dupont 1 collaboration

Christophe Philippe 1 collaboration

Hana Safraou 1 collaboration

Fanny Laffargue 1 collaboration

Luisa Mittendorf 1 collaboration

Rami Abou Jamra 1 collaboration

Siddaramappa Jagdish Patil 1 collaboration

Ashwin Dalal 1 collaboration

Asodu Sandeep Sarma 1 collaboration

Bruno Reversade 1 collaboration

Christèle Dubourg 1 collaboration

Sylvie Odent 1 collaboration

Valérie Dupé 1 collaboration