Lance Rodan

None None 8 collaborations

Jill A Rosenfeld 5 collaborations

Pankaj B Agrawal 4 collaborations

Boris Keren 3 collaborations

Cyril Mignot 3 collaborations

Michael C Kruer 3 collaborations

Marcella Zollino 3 collaborations

Davide Mei 3 collaborations

Renzo Guerrini 3 collaborations

Reza Maroofian 3 collaborations

Stephanie Efthymiou 3 collaborations

Henry Houlden 3 collaborations

Fowzan S Alkuraya 3 collaborations

Casie A Genetti 3 collaborations

Diana Baralle 3 collaborations

Anne O'Donnell-Luria 3 collaborations

François Lecoquierre 3 collaborations

Amber Begtrup 3 collaborations

Florence Petit 2 collaborations

Vinodh Narayanan 2 collaborations

Erin Torti 2 collaborations

Chanika Phornphutkul 2 collaborations

Somayeh Bakhtiari 2 collaborations

Manuela Morleo 2 collaborations

Raymond J Louie 2 collaborations

Jiahai Shi 2 collaborations

David A Sweetser 2 collaborations

Stephanie Sacharow 2 collaborations

Dong Li 2 collaborations

Pradeep Vasudevan 2 collaborations

Vincenzo Salpietro 2 collaborations

Anna Chassevent 2 collaborations

Yuyang Chen 2 collaborations

Ruebena Dawes 2 collaborations

Hyung Chul Kim 2 collaborations

Sarah L Stenton 2 collaborations

Susan Walker 2 collaborations

Alicia Ljungdahl 2 collaborations

Jenny Lord 2 collaborations

Vijay S Ganesh 2 collaborations

Jialan Ma 2 collaborations

Alexandra C Martin-Geary 2 collaborations

Gabrielle Lemire 2 collaborations

Elston N D'Souza 2 collaborations

Shan Dong 2 collaborations

Jamie M Ellingford 2 collaborations

David R Adams 2 collaborations

Kirsten Allan 2 collaborations

Madhura Bakshi 2 collaborations

Erin E Baldwin 2 collaborations

Seth I Berger 2 collaborations

Jonathan A Bernstein 2 collaborations

Natasha J Brown 2 collaborations

Lindsay C Burrage 2 collaborations

Kimberly Chapman 2 collaborations

Alison G Compton 2 collaborations

Chloe A Cunningham 2 collaborations

Precilla D'Souza 2 collaborations

Emmanuèle C Délot 2 collaborations

Kerith-Rae Dias 2 collaborations

Ellen R Elias 2 collaborations

Lisa Ewans 2 collaborations

Kimberly Ezell 2 collaborations

Jamie L Fraser 2 collaborations

Lyndon Gallacher 2 collaborations

Christina L Grant 2 collaborations

Tobias Haack 2 collaborations

Alma Kuechler 2 collaborations

Seema R Lalani 2 collaborations

Elsa Leitão 2 collaborations

Anna Le Fevre 2 collaborations

Richard J Leventer 2 collaborations

Jan E Liebelt 2 collaborations

Paul J Lockhart 2 collaborations

Alan S Ma 2 collaborations

Ellen F Macnamara 2 collaborations

Taylor M Maurer 2 collaborations

Hector R Mendez 2 collaborations

Stephen B Montgomery 2 collaborations

Marie-Cécile Nassogne 2 collaborations

Serena Neumann 2 collaborations

Melanie O'Leary 2 collaborations

Elizabeth E Palmer 2 collaborations

John Phillips 2 collaborations

Georgia Pitsava 2 collaborations

Ryan Pysar 2 collaborations

Heidi L Rehm 2 collaborations

Chloe M Reuter 2 collaborations

Nicole Revencu 2 collaborations

Angelika Riess 2 collaborations

Rocio Rius 2 collaborations

Tony Roscioli 2 collaborations

Rani Sachdev 2 collaborations

Cas Simons 2 collaborations

Sanjay M Sisodiya 2 collaborations

Penny Snell 2 collaborations

Laura St Clair 2 collaborations

Zornitza Stark 2 collaborations

Tiong Yang Tan 2 collaborations

Natalie B Tan 2 collaborations

David R Thorburn 2 collaborations

Cynthia J Tifft 2 collaborations

Eloise Uebergang 2 collaborations

Grace E VanNoy 2 collaborations

Eric Vilain 2 collaborations

David H Viskochil 2 collaborations

Laura Wedd 2 collaborations

Matthew T Wheeler 2 collaborations

Susan M White 2 collaborations

Monica Wojcik 2 collaborations

Lynne A Wolfe 2 collaborations

Zoe Wolfenson 2 collaborations

Changrui Xiao 2 collaborations

David Zocche 2 collaborations

John L Rubenstein 2 collaborations

Eirene Markenscoff-Papadimitriou 2 collaborations

Sebastian M Fica 2 collaborations

Christel Depienne 2 collaborations

Daniel G MacArthur 2 collaborations

Stephan J Sanders 2 collaborations

Nicola Whiffin 2 collaborations

Catherine Nowak 2 collaborations

Maria J Guillen Sacoto 2 collaborations

Teresa Santiago-Sim 2 collaborations

Nina B Gold 2 collaborations

Elizabeth Barkoudah 2 collaborations

Darius Ebrahimi-Fakhari 2 collaborations

Annapurna Poduri 2 collaborations

Siddharth Srivastava 2 collaborations

Rhonda E Schnur 2 collaborations

Shahryar Alavi 2 collaborations

Katharina Steindl 2 collaborations

Amir Bahreini 2 collaborations

Zahra Firoozfar 2 collaborations

Ehsan Ghayoor Karimiani 2 collaborations

Anita Rauch 2 collaborations

Lena-Luise Becker 1 collaboration

Hormos Salimi Dafsari 1 collaboration

Jens Schallner 1 collaboration

Dalia Abdin 1 collaboration

Michael Seifert 1 collaboration

Thomas Smol 1 collaboration

Levinus Bok 1 collaboration

Ingrid Krapels 1 collaboration

Stephanie Spranger 1 collaboration

Bernhard Weschke 1 collaboration

Katherine Johnson 1 collaboration

Volker Straub 1 collaboration

Angela M Kaindl 1 collaboration

Nataliya Di Donato 1 collaboration

Maja von der Hagen 1 collaboration

Sebahattin Cirak 1 collaboration

Amélie Cordovado 1 collaboration

Martina Schaettin 1 collaboration

Médéric Jeanne 1 collaboration

Veranika Panasenkava 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Martine Doco-Fenzy 1 collaboration

Keri Ramsey 1 collaboration

Julie R Jones 1 collaboration

Eloise J Prijoles 1 collaboration

Wendy G Mitchell 1 collaboration

Jillian R Ozmore 1 collaboration

Kali Juliette 1 collaboration

Elizabeth A Normand 1 collaboration

Leslie Granger 1 collaboration

Andrea K Petersen 1 collaboration

Margaret G Au 1 collaboration

Juliann P Matheny 1 collaboration

Mary-Kathryn Chambers 1 collaboration

Joaquín-Alejandro Fernández-Ramos 1 collaboration

Eduardo López-Laso 1 collaboration

Giuseppe Marangi 1 collaboration

Tiziana Pisano 1 collaboration

Anna Childers 1 collaboration

David B Everman 1 collaboration

Betrand Isidor 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Sylvie Odent 1 collaboration

Dominique Bonneau 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Richard Redon 1 collaboration

Stéphane Bézieau 1 collaboration

Frédéric Laumonnier 1 collaboration

Esther T Stoeckli 1 collaboration

Annick Toutain 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Rossella Venditti 1 collaboration

Evangelos Theodorou 1 collaboration

Lauren C Briere 1 collaboration

Marion Rosello 1 collaboration

Alfonsina Tirozzi 1 collaboration

Roberta Tammaro 1 collaboration

Nour Al-Badri 1 collaboration

Frances A High 1 collaboration

Elena Putti 1 collaboration

Luigi Ferrante 1 collaboration

Viviana Cetrangolo 1 collaboration

Annalaura Torella 1 collaboration

Melissa A Walker 1 collaboration

Romano Tenconi 1 collaboration

Maria Iascone 1 collaboration

Jasper van der Smagt 1 collaboration

Hester Y Kroes 1 collaboration

Koen L I van Gassen 1 collaboration

Muhammad Bilal 1 collaboration

Muhammad Umair 1 collaboration

Veronica Pingault 1 collaboration

Tania Attie-Bitach 1 collaboration

Jeannine Amiel 1 collaboration

Resham Ejaz 1 collaboration

Filippo Del Bene 1 collaboration

Vincenzo Nigro 1 collaboration

Brunella Franco 1 collaboration

Sheng Chih Jin 1 collaboration

Sara A Lewis 1 collaboration

Xue Zeng 1 collaboration

Michael C Sierant 1 collaboration

Sheetal Shetty 1 collaboration

Sandra M Nordlie 1 collaboration

Aureliane Elie 1 collaboration

Mark A Corbett 1 collaboration

Bethany Y Norton 1 collaboration

Clare L van Eyk 1 collaboration

Shozeb Haider 1 collaboration

Brandon S Guida 1 collaboration

Helen Magee 1 collaboration

James Liu 1 collaboration

Stephen Pastore 1 collaboration

John B Vincent 1 collaboration

Janice Brunstrom-Hernandez 1 collaboration

Antigone Papavasileiou 1 collaboration

Michael C Fahey 1 collaboration

Jesia G Berry 1 collaboration

Kelly Harper 1 collaboration

Chongchen Zhou 1 collaboration

Junhui Zhang 1 collaboration

Boyang Li 1 collaboration

Hongyu Zhao 1 collaboration

Jennifer Heim 1 collaboration

Dani L Webber 1 collaboration

Mahalia S B Frank 1 collaboration

Lei Xia 1 collaboration

Yiran Xu 1 collaboration

Dengna Zhu 1 collaboration

Bohao Zhang 1 collaboration

Amar H Sheth 1 collaboration

James R Knight 1 collaboration

Christopher Castaldi 1 collaboration

Irina R Tikhonova 1 collaboration

Francesc López-Giráldez 1 collaboration

Sandra Whalen 1 collaboration

Julien Buratti 1 collaboration

Diane Doummar 1 collaboration

Megan Cho 1 collaboration

Kyle Retterer 1 collaboration

Francisca Millan 1 collaboration

Yangong Wang 1 collaboration

Jeff L Waugh 1 collaboration

Julie S Cohen 1 collaboration

Ali Fatemi 1 collaboration

Angela E Lin 1 collaboration

John P Phillips 1 collaboration

Timothy Feyma 1 collaboration

Suzanna C MacLennan 1 collaboration

Spencer Vaughan 1 collaboration

Kylie E Crompton 1 collaboration

Susan M Reid 1 collaboration

Dinah S Reddihough 1 collaboration

Qing Shang 1 collaboration

Chao Gao 1 collaboration

Iona Novak 1 collaboration

Nadia Badawi 1 collaboration

Yana A Wilson 1 collaboration

Sarah J McIntyre 1 collaboration

Shrikant M Mane 1 collaboration

Xiaoyang Wang 1 collaboration

David J Amor 1 collaboration

Daniela C Zarnescu 1 collaboration

Qiongshi Lu 1 collaboration

Qinghe Xing 1 collaboration

Changlian Zhu 1 collaboration

Kaya Bilguvar 1 collaboration

Sergio Padilla-Lopez 1 collaboration

Richard P Lifton 1 collaboration

Jozef Gecz 1 collaboration

Alastair H MacLennan 1 collaboration

Katalin Kerti-Szigeti 1 collaboration

Sara Pepe 1 collaboration

Mary Kay Koenig 1 collaboration

Gretchen Von Allmen 1 collaboration

Megan T Cho 1 collaboration

Kimberly McDonald 1 collaboration

Janice Baker 1 collaboration

Vikas Bhambhani 1 collaboration

Zöe Powis 1 collaboration

Rima Nabbout 1 collaboration

Giulia Barcia 1 collaboration

Carlos A Bacino 1 collaboration

Lillian H Power 1 collaboration

Catharine J Harris 1 collaboration

Dragan Marjanovic 1 collaboration

Rikke S Møller 1 collaboration

Trine B Hammer 1 collaboration

Riikka Keski Filppula 1 collaboration

Päivi Vieira 1 collaboration

Clara Hildebrandt 1 collaboration

Luca Maragliano 1 collaboration

Fabio Benfenati 1 collaboration

Katherine Lachlan 1 collaboration

Andreas Benneche 1 collaboration

Jean Madeleine de Sainte Agathe 1 collaboration

Barbara Hallinan 1 collaboration

Yue Si 1 collaboration

Ingrid M Wentzensen 1 collaboration

Fanggeng Zou 1 collaboration

Naomichi Matsumoto 1 collaboration

Alessandra Boncristiano 1 collaboration

Giancarlo la Marca 1 collaboration

Mitsuhiro Kato 1 collaboration

Kristin Anderson 1 collaboration

Carmen Barba 1 collaboration

Luisa Sturiale 1 collaboration

Domenico Garozzo 1 collaboration

Roberto Bei 1 collaboration

Laura Masuelli 1 collaboration

Valerio Conti 1 collaboration

Gaia Novarino 1 collaboration

Anna Fassio 1 collaboration

Carolina Gracia-Diaz 1 collaboration

Yijing Zhou 1 collaboration

Qian Yang 1 collaboration

Paula Espana-Bonilla 1 collaboration

Chul-Hwan Lee 1 collaboration

Shuo Zhang 1 collaboration

Natàlia Padilla 1 collaboration

Raquel Fueyo 1 collaboration

Elisa A Waxman 1 collaboration

Sunyimeng Lei 1 collaboration

Garrett Otrimski 1 collaboration

Sarah E Sheppard 1 collaboration

Paul Mark 1 collaboration

Margaret H Harr 1 collaboration

Hakon Hakonarson 1 collaboration

Adam Jackson 1 collaboration

Corrina Powel 1 collaboration

Shehla Mohammed 1 collaboration

Sateesh Maddirevula 1 collaboration

Hamad Alzaidan 1 collaboration

Eissa A Faqeih 1 collaboration

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Fatima Rahman 1 collaboration

Shazia Maqbool 1 collaboration

Shahnaz H Ibrahim 1 collaboration

Gabriella di Rosa 1 collaboration

Maha Nasser Alharbi 1 collaboration

Nouriya Abbas Al-Sannaa 1 collaboration

Peter Bauer 1 collaboration

Giovanni Zifarelli 1 collaboration

Conchi Estaras 1 collaboration

Anna C E Hurst 1 collaboration

Michelle L Thompson 1 collaboration

Constance L Smith-Hicks 1 collaboration

Xavier de la Cruz 1 collaboration

Alexander M Holtz 1 collaboration

Houda Zghal Elloumi 1 collaboration

M J Hajianpour 1 collaboration

Claudine Rieubland 1 collaboration

Dominique Braun 1 collaboration

Siddharth Banka 1 collaboration

Deborah L French 1 collaboration

Elizabeth A Heller 1 collaboration

Murielle Saade 1 collaboration

Hongjun Song 1 collaboration

Guo-Li Ming 1 collaboration

Danny Reinberg 1 collaboration

Elizabeth J Bhoj 1 collaboration

Marian A Martínez-Balbás 1 collaboration

Naiara Akizu 1 collaboration

Carey-Anne Evans 1 collaboration

Suzanna El Temple 1 collaboration

Joanna Mm Howson 1 collaboration

Scott Barish 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Brittany C Michel 1 collaboration

Nazar Mashtalir 1 collaboration

Jennifer B Phillips 1 collaboration

Alfredo M Valencia 1 collaboration

Berrak Ugur 1 collaboration

Jeremy Wegner 1 collaboration

Tiana M Scott 1 collaboration

Brett Bostwick 1 collaboration

David R Murdock 1 collaboration

Hongzheng Dai 1 collaboration

Elena Perenthaler 1 collaboration

Anita Nikoncuk 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Alice S Brooks 1 collaboration

Caroline Nava 1 collaboration

Jessica Douglas 1 collaboration

Sian Ellard 1 collaboration

Karen Stals 1 collaboration

Sally Ann Lynch 1 collaboration

Marie Faoucher 1 collaboration

Gaetan Lesca 1 collaboration

Patrick Edery 1 collaboration

Kendra L Engleman 1 collaboration

Dihong Zhou 1 collaboration

Isabelle Thiffault 1 collaboration

John Herriges 1 collaboration

Jennifer Gass 1 collaboration

Elliot Stolerman 1 collaboration

Camerun Washington 1 collaboration

Francesco Vetrini 1 collaboration

Aiko Otsubo 1 collaboration

Victoria M Pratt 1 collaboration

Erin Conboy 1 collaboration

Kayla Treat 1 collaboration

Nora Shannon 1 collaboration

Jose Camacho 1 collaboration

Emma Wakeling 1 collaboration

Bo Yuan 1 collaboration

Chun-An Chen 1 collaboration

Monte Westerfield 1 collaboration

Michael Wangler 1 collaboration

Shinya Yamamoto 1 collaboration

Cigall Kadoch 1 collaboration

Daryl A Scott 1 collaboration

Hugo J Bellen 1 collaboration

Anna R Duncan 1 collaboration

Antonio Vitobello 1 collaboration

Stephan C Collins 1 collaboration

Valerie E Vancollie 1 collaboration

Christopher J Lelliott 1 collaboration

Ann R Seman 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Paolo Prontera 1 collaboration

Aurélien Trimouille 1 collaboration

Cyril Goizet 1 collaboration

Mathilde Nizon 1 collaboration

Ange-Line Bruel 1 collaboration

Christophe Philippe 1 collaboration

Patricia E Grant 1 collaboration

Monica H Wojcik 1 collaboration

Joan Stoler 1 collaboration

Marieke F van Dooren 1 collaboration

Saskia M Maas 1 collaboration

Marielle Alders 1 collaboration

Laurence Faivre 1 collaboration

Arthur Sorlin 1 collaboration

Grace Yoon 1 collaboration

Binnaz Yalcin 1 collaboration

Roy Jung 1 collaboration

Yejin Lee 1 collaboration

Douglas Barker 1 collaboration

Kevin Correia 1 collaboration

Baehyun Shin 1 collaboration

Jacob Loupe 1 collaboration

Ryan L Collins 1 collaboration

Diane Lucente 1 collaboration

Jayla Ruliera 1 collaboration

Tammy Gillis 1 collaboration

Jayalakshmi S Mysore 1 collaboration

Jonathan Picker 1 collaboration

Jong-Min Lee 1 collaboration

David Howland 1 collaboration

Ramee Lee 1 collaboration

Seung Kwak 1 collaboration

Marcy E MacDonald 1 collaboration

James F Gusella 1 collaboration

Ihn Sik Seong 1 collaboration

Frank J Kaiser 1 collaboration

Ilaria Parenti 1 collaboration

Tim M Strom 1 collaboration

Feliciano J Ramos 1 collaboration

Beatriz Puisac 1 collaboration

Juan Pié 1 collaboration

Kirsty McWalter 1 collaboration

Hong Cui 1 collaboration

Reem Saadeh-Haddad 1 collaboration

Constance Smith-Hicks 1 collaboration

Edward Blair 1 collaboration

Elizabeth Bhoj 1 collaboration

Maya Chopra 1 collaboration

Dustin L Gable 1 collaboration

Jamie Love-Nichols 1 collaboration

Alexa Tsao 1 collaboration

Shira Rockowitz 1 collaboration

Piotr Sliz 1 collaboration

Lucia Bastianelli 1 collaboration

David Coulter 1 collaboration

Emily Davidson 1 collaboration

Claudio DeGusmao 1 collaboration

David Fogelman 1 collaboration

Kathleen Huth 1 collaboration

Paige Marshall 1 collaboration

Donna Nimec 1 collaboration

Jessica Solomon Sanders 1 collaboration

Benjamin J Shore 1 collaboration

Brian Snyder 1 collaboration

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Colyn Watkins 1 collaboration

Charles Berde 1 collaboration

Jeffrey Bolton 1 collaboration

Catherine Brownstein 1 collaboration

Michael Costigan 1 collaboration

Abbe Lai 1 collaboration

Alex R Paciorkowski 1 collaboration

Anna Pinto 1 collaboration

John Pugh 1 collaboration

Eugene Roe 1 collaboration

Lindsay Swanson 1 collaboration

Bo Zhang 1 collaboration

Mustafa Sahin 1 collaboration

Erwan Delage 1 collaboration

Ishita Bhatnagar 1 collaboration

Ed Blair 1 collaboration

David J Coman 1 collaboration

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Frances Elmslie 1 collaboration

Care-Anne Evans 1 collaboration

Anne Goriely 1 collaboration

Jenny E Higgs 1 collaboration

Anjali G Hinch 1 collaboration

Matthew E Hurles 1 collaboration

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Sarah Lindsay 1 collaboration

Sahar Mansour 1 collaboration

Kay Metcalfe 1 collaboration

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Michael O'Donoghue 1 collaboration

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Charles J Shaw-Smith 1 collaboration

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Lisa Rodan 1 collaboration

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M Scott Perry 1 collaboration

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Mary D King 1 collaboration

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Ariane Soldatos 1 collaboration

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Nino Spataro 1 collaboration

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Nicola Brunetti-Pierri 1 collaboration

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Jacques L Michaud 1 collaboration

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Jing Xiao 1 collaboration

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Adam D Kennedy 1 collaboration

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V Reid Sutton 1 collaboration

Qin Sun 1 collaboration

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Roman Yusupov 1 collaboration

Anne-Marie Guerrot 1 collaboration

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Richard Person 1 collaboration

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Marcello Scala 1 collaboration

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Yvan Herenger 1 collaboration

Mohammadreza Dehghani 1 collaboration

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Mahya E Nasab 1 collaboration

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Pasquale Striano 1 collaboration

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Ghada Abdel-Salam 1 collaboration

Megan Li 1 collaboration

Mario Bengala 1 collaboration

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Maria C Digilio 1 collaboration

Murat Gunel 1 collaboration

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Scott D McLean 1 collaboration

Mustafa Salih 1 collaboration

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Daniel G Calame 1 collaboration

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Puravi Panda 1 collaboration

Dat Tuan Nguyen 1 collaboration

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Haowei Du 1 collaboration

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Reza Boostani 1 collaboration

Ghada M H Abdel-Salam 1 collaboration

Maha Zaki 1 collaboration

Ali Mardi 1 collaboration

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Davut Pehlivan 1 collaboration

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Richard A Gibbs 1 collaboration

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Long Nam Nguyen 1 collaboration

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Alyaa Al-Ibraheemi 1 collaboration

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Affiliations

Publications (24)

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.

Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.

Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism.

Réseau de co-auteurs