Louisa Kalsner

Rolph Pfundt 4 collaborations

Kristin G Monaghan 3 collaborations

Elke de Boer 2 collaborations

Haley McConkey 2 collaborations

Kirsty McWalter 2 collaborations

Aida Telegrafi 2 collaborations

Margaret Au 2 collaborations

Kristin Lindstrom 2 collaborations

Erica L Macke 2 collaborations

Eva Morava 2 collaborations

Eric W Klee 2 collaborations

Gaetan Lesca 2 collaborations

Bert B A de Vries 2 collaborations

Bregje W van Bon 2 collaborations

Marjon van Slegtenhorst 2 collaborations

Anita Rauch 2 collaborations

John M Graham 2 collaborations

Siddharth Banka 2 collaborations

Lisenka E L M Vissers 2 collaborations

Bekim Sadikovic 2 collaborations

Alexandra Afenjar 2 collaborations

Boris Keren 2 collaborations

Maria J Guillen Sacoto 2 collaborations

Johanna M van Hagen 2 collaborations

Susan M Hiatt 2 collaborations

Caroline Nava 2 collaborations

Audrey Putoux 2 collaborations

Jane Juusola 2 collaborations

None None 2 collaborations

Julie Fleischer 2 collaborations

Tjitske Kleefstra 2 collaborations

Francesca Clementina Radio 1 collaboration

Kaifang Pang 1 collaboration

Andrea Ciolfi 1 collaboration

Michael A Levy 1 collaboration

Andrés Hernández-García 1 collaboration

Lucia Pedace 1 collaboration

Francesca Pantaleoni 1 collaboration

Zhandong Liu 1 collaboration

Adam Jackson 1 collaboration

Alessandro Bruselles 1 collaboration

Emilia Stellacci 1 collaboration

Stefania Lo Cicero 1 collaboration

Marialetizia Motta 1 collaboration

Rosalba Carrozzo 1 collaboration

Maria Lisa Dentici 1 collaboration

Megha Desai 1 collaboration

Christophe Philippe 1 collaboration

Antonio Vitobello 1 collaboration

Katheryn Grand 1 collaboration

Pedro A Sanchez-Lara 1 collaboration

Joanne Baez 1 collaboration

Peggy Kulch 1 collaboration

Jessica Sebastian 1 collaboration

Suneeta Madan-Khetarpal 1 collaboration

Chelsea Roadhouse 1 collaboration

Jennifer J MacKenzie 1 collaboration

Berrin Monteleone 1 collaboration

Carol J Saunders 1 collaboration

July K Jean Cuevas 1 collaboration

Laura Cross 1 collaboration

Dihong Zhou 1 collaboration

Taila Hartley 1 collaboration

Sarah L Sawyer 1 collaboration

Fabíola Paoli Monteiro 1 collaboration

Tania Vertemati Secches 1 collaboration

Fernando Kok 1 collaboration

Laura E Schultz-Rogers 1 collaboration

Jennifer Kemppainen 1 collaboration

Maria Iascone 1 collaboration

Angelo Selicorni 1 collaboration

Romano Tenconi 1 collaboration

David J Amor 1 collaboration

Lynn Pais 1 collaboration

Lyndon Gallacher 1 collaboration

Peter D Turnpenny 1 collaboration

Karen Stals 1 collaboration

Sian Ellard 1 collaboration

Sara Cabet 1 collaboration

Joset Pascal 1 collaboration

Katharina Steindl 1 collaboration

Sarit Ravid 1 collaboration

Karin Weiss 1 collaboration

Alison M R Castle 1 collaboration

Melissa T Carter 1 collaboration

Marijke R Wevers 1 collaboration

Alexander P A Stegmann 1 collaboration

Bronwyn Kerr 1 collaboration

Helen M Kingston 1 collaboration

Kate E Chandler 1 collaboration

Willow Sheehan 1 collaboration

Abdallah F Elias 1 collaboration

Deepali N Shinde 1 collaboration

Meghan C Towne 1 collaboration

Nathaniel H Robin 1 collaboration

Dana Goodloe 1 collaboration

Adeline Vanderver 1 collaboration

Omar Sherbini 1 collaboration

Krista Bluske 1 collaboration

R Tanner Hagelstrom 1 collaboration

Caterina Zanus 1 collaboration

Flavio Faletra 1 collaboration

Luciana Musante 1 collaboration

Evangeline C Kurtz-Nelson 1 collaboration

Rachel K Earl 1 collaboration

Britt-Marie Anderlid 1 collaboration

Gilles Morin 1 collaboration

Karin E M Diderich 1 collaboration

Alice S Brooks 1 collaboration

Joost Gribnau 1 collaboration

Ruben G Boers 1 collaboration

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Paolo Gasparini 1 collaboration

Kym M Boycott 1 collaboration

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Laurence Faivre 1 collaboration

Tianyun Wang 1 collaboration

Evan E Eichler 1 collaboration

Manuela Priolo 1 collaboration

Bruno Dallapiccola 1 collaboration

Daryl A Scott 1 collaboration

Jimmy Lloyd Holder 1 collaboration

Marco Tartaglia 1 collaboration

Felix Marbach 1 collaboration

Beata S Lipska-Ziętkiewicz 1 collaboration

Agata Knurowska 1 collaboration

Vincent Michaud 1 collaboration

Henri Margot 1 collaboration

James Lespinasse 1 collaboration

Frédéric Tran Mau Them 1 collaboration

Christine Coubes 1 collaboration

Joohyun Park 1 collaboration

Sarah Grosch 1 collaboration

Cristiana Roggia 1 collaboration

Ute Grasshoff 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Bénédicte Héron 1 collaboration

Pilar Caro 1 collaboration

Christian P Schaaf 1 collaboration

Qandeel Zahra 1 collaboration

Çağla Çakmak 1 collaboration

Mine Koprulu 1 collaboration

Muhammad Shuaib 1 collaboration

Nara Sobreira 1 collaboration

Joselito Sobreira 1 collaboration

Sajid Malik 1 collaboration

Aslıhan Tolun 1 collaboration

Anne Slavotinek 1 collaboration

Shashidhar Pai 1 collaboration

Laura Davis-Keppen 1 collaboration

Lisa Ohden 1 collaboration

Yvonne G Weber 1 collaboration

Lauren Gunderson 1 collaboration

Richard Person 1 collaboration

Shuxi Liu 1 collaboration

Marjan Weiss 1 collaboration

Erin Torti 1 collaboration

Elizabeth E Palmer 1 collaboration

Zehua Zhu 1 collaboration

Ilse J Anderson 1 collaboration

Marisa V Andrews 1 collaboration

Celia Atkinson 1 collaboration

Susan A Berry 1 collaboration

Kevin M Bowling 1 collaboration

Jackie Boyle 1 collaboration

Julien Buratti 1 collaboration

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Perrine Charles 1 collaboration

Benjamin Cogne 1 collaboration

Thomas Courtin 1 collaboration

Luis F Escobar 1 collaboration

Sabra Ledare Finley 1 collaboration

Dorothy K Grange 1 collaboration

Delphine Heron 1 collaboration

Stacy Hewson 1 collaboration

Kathleen A Hibbs 1 collaboration

Parul Jayakar 1 collaboration

Lise Larcher 1 collaboration

Paul R Mark 1 collaboration

Kathryn Miller 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

Sandra Whalen 1 collaboration

Amy Crunk 1 collaboration

Ganka Douglas 1 collaboration

Richard E Person 1 collaboration

Rebecca Willaert 1 collaboration

Benjamin D Solomon 1 collaboration

William D Graf 1 collaboration

Bruce H Cohen 1 collaboration

Phillip L Pearl 1 collaboration

Harvey B Sarnat 1 collaboration

Leon G Epstein 1 collaboration

Dmitrijs Rots 1 collaboration

Arianne Bouman 1 collaboration

Ayumi Yamada 1 collaboration

Michael Levy 1 collaboration

Alexander J M Dingemans 1 collaboration

Martina Ruiterkamp-Versteeg 1 collaboration

Nicole de Leeuw 1 collaboration

Charlotte W Ockeloen 1 collaboration

Joost Kummeling 1 collaboration

Bregje van Bon 1 collaboration

Hans van Bokhoven 1 collaboration

Nael Nadif Kasri 1 collaboration

Hanka Venselaar 1 collaboration

Marielle Alders 1 collaboration

Jennifer Kerkhof 1 collaboration

Alma Kuechler 1 collaboration

Bart Elffers 1 collaboration

Rixje van Beeck Calkoen 1 collaboration

Susanna Hofman 1 collaboration

Audrey Smith 1 collaboration

Maria Irene Valenzuela 1 collaboration

Siddharth Srivastava 1 collaboration

Zoe Frazier 1 collaboration

Isabelle Maystadt 1 collaboration

Carmelo Piscopo 1 collaboration

Giuseppe Merla 1 collaboration

Meena Balasubramanian 1 collaboration

Gijs W E Santen 1 collaboration

Kay Metcalfe 1 collaboration

Soo-Mi Park 1 collaboration

Laurent Pasquier 1 collaboration

Dian Donnai 1 collaboration

Daniel Weisberg 1 collaboration

Gertrud Strobl-Wildemann 1 collaboration

Annemieke Wagemans 1 collaboration

Maaike Vreeburg 1 collaboration

Diana Baralle 1 collaboration

Nicola Foulds 1 collaboration

Ingrid Scurr 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Emilia K Bijlsma 1 collaboration

Anna H Hakonen 1 collaboration

Carolina Courage 1 collaboration

David Genevieve 1 collaboration

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Charu Deshpande 1 collaboration

Maria L Kluskens 1 collaboration

Lindsey Welling 1 collaboration

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Damien Lederer 1 collaboration

Mary O'Connor 1 collaboration

Melissa Pauly 1 collaboration

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André Reis 1 collaboration

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Arjan Bouman 1 collaboration

Chris Barnett 1 collaboration

Marjan Nezarati 1 collaboration

Lauren Borch 1 collaboration

Gea Beunders 1 collaboration

Kübra Özcan 1 collaboration

Stéphanie Miot 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Koen L I van Gassen 1 collaboration

Gerarda Cappuccio 1 collaboration

Katrien Janssens 1 collaboration

Nofar Mor 1 collaboration

Inna Shomer 1 collaboration

Dan Dominissini 1 collaboration

Matthew L Tedder 1 collaboration

Alison M Muir 1 collaboration

Han G Brunner 1 collaboration

Yoichi Shinkai 1 collaboration

Michelle L Thompson 1 collaboration

Jeremy W Prokop 1 collaboration

James M J Lawlor 1 collaboration

David E Gray 1 collaboration

E Martina Bebin 1 collaboration

Tuula Rinne 1 collaboration

Marlies Kempers 1 collaboration

Cyril Mignot 1 collaboration

Christel Depienne 1 collaboration

Pascal Joset 1 collaboration

Ruxandra Bachmann-Gagescu 1 collaboration

Ingrid M Wentzensen 1 collaboration

Gregory M Cooper 1 collaboration

Geeske M van Woerden 1 collaboration

Melanie Bos 1 collaboration

Charlotte de Konink 1 collaboration

Ben Distel 1 collaboration

Rossella Avagliano Trezza 1 collaboration

Natasha E Shur 1 collaboration

Kristin Barañano 1 collaboration

Sonal Mahida 1 collaboration

Anna Chassevent 1 collaboration

Allison Schreiber 1 collaboration

Angelika L Erwin 1 collaboration

Karen W Gripp 1 collaboration

Fatima Rehman 1 collaboration

Saskia Brulleman 1 collaboration

Róisín McCormack 1 collaboration

Gwynna de Geus 1 collaboration

Arthur Sorlin 1 collaboration

Ange-Line Bruel 1 collaboration

David A Koolen 1 collaboration

Melissa K Gabriel 1 collaboration

Mari Rossi 1 collaboration

David R Fitzpatrick 1 collaboration

Andrew O M Wilkie 1 collaboration

Eduardo Calpena 1 collaboration

David Johnson 1 collaboration

Alice Brooks 1 collaboration

Daniel Groepper 1 collaboration

A Micheil Innes 1 collaboration

Allison Goodwin 1 collaboration

Jennifer Humberson 1 collaboration

Amanda Noyes 1 collaboration

Katherine G Langley 1 collaboration

Amy Blevins 1 collaboration

Jessica Hoffman 1 collaboration

Sumit Punj 1 collaboration

Marleen Simon 1 collaboration

Ype Elgersma 1 collaboration

Elizabeth A Werren 1 collaboration

Jessica Ewald 1 collaboration

Michael Peracchio 1 collaboration

Cameron King 1 collaboration

Purva Vats 1 collaboration

Peter A Audano 1 collaboration

Peter N Robinson 1 collaboration

Mark D Adams 1 collaboration

Melissa A Kelly 1 collaboration

Adam P Matson 1 collaboration

Rhonda E Schnur 1 collaboration

Lukáš Dvořáček 1 collaboration

Faye L Shapiro 1 collaboration

Dana Grebeňová 1 collaboration

Diana Yanni 1 collaboration

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Affiliations

Publications (11)

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

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

Fetal anomaly diagnosis and termination of pregnancy.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

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New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.

Réseau de co-auteurs