Cara Skraban

Christopher Gray 5 collaborations

Livija Medne 5 collaborations

Jacqueline Leonard 5 collaborations

Kosuke Izumi 5 collaborations

Emma Bedoukian 5 collaborations

Hakon Hakonarson 4 collaborations

Ian Krantz 4 collaborations

Lance H Rodan 3 collaborations

Dong Li 3 collaborations

Alanna Strong 3 collaborations

Anita Rauch 2 collaborations

Kevin Uguen 2 collaborations

Sylvia Redon 2 collaborations

Rami Abou Jamra 2 collaborations

Stylianos E Antonarakis 2 collaborations

Hossein Darvish 2 collaborations

Marina Macchiaiolo 2 collaborations

Isabelle Thiffault 2 collaborations

Elaine H Zackai 2 collaborations

Sarah E Sheppard 2 collaborations

Frank Mentch 2 collaborations

Konrad Platzer 2 collaborations

Jill A Rosenfeld 2 collaborations

Avni Santani 2 collaborations

None None 2 collaborations

Vandana Shashi 2 collaborations

Alyssa L Rippert 2 collaborations

Rebecca C Ahrens-Nicklas 2 collaborations

Kevin Meyers 2 collaborations

Jessica Wen 2 collaborations

Jessica Gold 2 collaborations

Katharine Press Callahan 2 collaborations

Katherine Taylor Wild 2 collaborations

Chris Feudtner 2 collaborations

Holly K Harris 1 collaboration

Tojo Nakayama 1 collaboration

Jenny Lai 1 collaboration

Boxun Zhao 1 collaboration

Nikoleta Argyrou 1 collaboration

Cynthia S Gubbels 1 collaboration

Aubrie Soucy 1 collaboration

Casie A Genetti 1 collaboration

Victoria Suslovitch 1 collaboration

George E Tiller 1 collaboration

Gaetan Lesca 1 collaboration

Karen W Gripp 1 collaboration

Reza Asadollahi 1 collaboration

Ada Hamosh 1 collaboration

Carolyn D Applegate 1 collaboration

Peter D Turnpenny 1 collaboration

Marleen E H Simon 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Koen L I van Gassen 1 collaboration

Ellen van Binsbergen 1 collaboration

Rolph Pfundt 1 collaboration

Thatjana Gardeitchik 1 collaboration

Bert B A de Vries 1 collaboration

LaDonna L Immken 1 collaboration

Catherine Buchanan 1 collaboration

Marcia Willing 1 collaboration

Tomi L Toler 1 collaboration

Emily Fassi 1 collaboration

Laura Baker 1 collaboration

Fleur Vansenne 1 collaboration

Xiadong Wang 1 collaboration

Julian L Ambrus 1 collaboration

Madeleine Fannemel 1 collaboration

Jennifer E Posey 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Paranchai Boonsawat 1 collaboration

Christina R Fagerberg 1 collaboration

Martin J Larsen 1 collaboration

Maria Kibaek 1 collaboration

Audrey Labalme 1 collaboration

Alice Poisson 1 collaboration

Katelyn K Payne 1 collaboration

Laurence E Walsh 1 collaboration

Kimberly A Aldinger 1 collaboration

Jorune Balciuniene 1 collaboration

Jill Murrell 1 collaboration

Caleb P Bupp 1 collaboration

Giulia Pascolini 1 collaboration

Paola Grammatico 1 collaboration

Martin Broly 1 collaboration

Sébastien Küry 1 collaboration

Mathilde Nizon 1 collaboration

Iqra Ghulam Rasool 1 collaboration

Muhammad Yasir Zahoor 1 collaboration

Cornelia Kraus 1 collaboration

André Reis 1 collaboration

Muhammad Iqbal 1 collaboration

Severine Audebert-Bellanger 1 collaboration

Claude Ferec 1 collaboration

Janice Baker 1 collaboration

Yunhong Wu 1 collaboration

Guiseppe Zampino 1 collaboration

Steffan Syrbe 1 collaboration

Ines Brosse 1 collaboration

William B Dobyns 1 collaboration

Lilian L Cohen 1 collaboration

Anne Blomhoff 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Thomas Courtin 1 collaboration

Pankaj B Agrawal 1 collaboration

Alan H Beggs 1 collaboration

Timothy W Yu 1 collaboration

Susan M Hiatt 1 collaboration

Slavica Trajkova 1 collaboration

Matteo Rossi Sebastiano 1 collaboration

E Christopher Partridge 1 collaboration

Fatima E Abidi 1 collaboration

Ashlyn Anderson 1 collaboration

Muhammad Ansar 1 collaboration

Azadeh Azadi 1 collaboration

Ruxandra Bachmann-Gagescu 1 collaboration

Andrea Bartuli 1 collaboration

Caroline Benech 1 collaboration

Jennifer L Berkowitz 1 collaboration

Michael J Betti 1 collaboration

Alfredo Brusco 1 collaboration

Ashley Cannon 1 collaboration

Giulia Caron 1 collaboration

Yanmin Chen 1 collaboration

Meagan E Cochran 1 collaboration

Tanner F Coleman 1 collaboration

Molly M Crenshaw 1 collaboration

Laurence Cuisset 1 collaboration

Cynthia J Curry 1 collaboration

Serwet Demirdas 1 collaboration

Maria Descartes 1 collaboration

Jessica Douglas 1 collaboration

David A Dyment 1 collaboration

Houda Zghal Elloumi 1 collaboration

Giuseppe Ermondi 1 collaboration

Marie Faoucher 1 collaboration

Emily G Farrow 1 collaboration

Stephanie A Felker 1 collaboration

Heather Fisher 1 collaboration

Anna C E Hurst 1 collaboration

Pascal Joset 1 collaboration

Melissa A Kelly 1 collaboration

Stanislav Kmoch 1 collaboration

Benjamin R Leadem 1 collaboration

Michael J Lyons 1 collaboration

Martin Magner 1 collaboration

Giorgia Mandrile 1 collaboration

Francesca Mattioli 1 collaboration

Megan McEown 1 collaboration

Sarah K Meadows 1 collaboration

Naomi J L Meeks 1 collaboration

Sarah Montgomery 1 collaboration

Melanie P Napier 1 collaboration

Marvin Natowicz 1 collaboration

Kimberly M Newberry 1 collaboration

Marcello Niceta 1 collaboration

Lenka Noskova 1 collaboration

Catherine B Nowak 1 collaboration

Amanda G Noyes 1 collaboration

Matthew Osmond 1 collaboration

Eloise J Prijoles 1 collaboration

Jada Pugh 1 collaboration

Verdiana Pullano 1 collaboration

Chloé Quélin 1 collaboration

Simin Rahimi-Aliabadi 1 collaboration

Alexandre Reymond 1 collaboration

Caitlin R Schwager 1 collaboration

Elizabeth A Sellars 1 collaboration

Angela E Scheuerle 1 collaboration

Elena Shukarova-Angelovska 1 collaboration

Elliot Stolerman 1 collaboration

Bonnie R Sullivan 1 collaboration

Marco Tartaglia 1 collaboration

Luis A Umaña 1 collaboration

Yolande van Bever 1 collaboration

Saskia N van der Crabben 1 collaboration

Marjon A van Slegtenhorst 1 collaboration

Quinten Waisfisz 1 collaboration

Camerun Washington 1 collaboration

Richard M Myers 1 collaboration

Gregory M Cooper 1 collaboration

Mandi Liu 1 collaboration

Christopher L Smith 1 collaboration

David M Biko 1 collaboration

Erin Pinto 1 collaboration

Nora O'Connor 1 collaboration

Yoav Dori 1 collaboration

Meckenzie Behr 1 collaboration

Carina Lott 1 collaboration

Abigail J Clark 1 collaboration

Renata Pellegrino Da Silva 1 collaboration

Danielle R Rux 1 collaboration

Robert Campbell 1 collaboration

Xiang Wang 1 collaboration

Jason B Anari 1 collaboration

Benjamin Sinder 1 collaboration

Patrick J Cahill 1 collaboration

Patrick Sleiman 1 collaboration

Tomoki T Nomakuchi 1 collaboration

Melinda Danowitz 1 collaboration

Blythe Stewart 1 collaboration

Thomas F Kolon 1 collaboration

David Langdon 1 collaboration

Jason Van Batavia 1 collaboration

Elaine Zackai 1 collaboration

Kai Jiao 1 collaboration

Rebecca Linn 1 collaboration

Caitlin Alexander 1 collaboration

Mark Zaontz 1 collaboration

Maria G Vogiatzi 1 collaboration

Louise C Pyle 1 collaboration

Rebecca C Spillmann 1 collaboration

Harley T Kurata 1 collaboration

Shawn M Lamothe 1 collaboration

Jasmine Maghera 1 collaboration

Anna Alkelai 1 collaboration

Isis Atallah 1 collaboration

Omer Bar-Yosef 1 collaboration

Frédéric Bilan 1 collaboration

Kathrine Bjorgo 1 collaboration

Xavier Blanc 1 collaboration

Patrick Van Bogaert 1 collaboration

Yoav Bolkier 1 collaboration

Lindsay C Burrage 1 collaboration

Björn U Christ 1 collaboration

Jorge L Granadillo 1 collaboration

Patricia Dickson 1 collaboration

Kirsten A Donald 1 collaboration

Christèle Dubourg 1 collaboration

Aviva Eliyahu 1 collaboration

Lisa Emrick 1 collaboration

Kendra Engleman 1 collaboration

Michaela Veronika Gonfiantini 1 collaboration

Jean-Marc Good 1 collaboration

Judith Kalser 1 collaboration

Chiara Kloeckner 1 collaboration

Guus Lachmeijer 1 collaboration

Francesco Nicita 1 collaboration

Sylvie Odent 1 collaboration

Emily O'Heir 1 collaboration

Xilma Ortiz-Gonzalez 1 collaboration

Marta Pacio-Miguez 1 collaboration

María Palomares-Bralo 1 collaboration

Loren Pena 1 collaboration

Mathieu Quinodoz 1 collaboration

Emmanuelle Ranza 1 collaboration

Eliane Roulet-Perez 1 collaboration

Fernando Santos-Simarro 1 collaboration

Ben Pode-Shakked 1 collaboration

Rachel Slaugh 1 collaboration

Andrea Superti-Furga 1 collaboration

Richard H van Jaabrsveld 1 collaboration

Marie Vincent 1 collaboration

Hong-Gang Wang 1 collaboration

Pia Zacher 1 collaboration

Eric Rush 1 collaboration

Geoffrey S Pitt 1 collaboration

Ping Yee Billie Au 1 collaboration

Julia Keisling 1 collaboration

Danielle S Burstein 1 collaboration

J William Gaynor 1 collaboration

Kimberly Y Lin 1 collaboration

Christine Seymour 1 collaboration

Jessica R C Priestley 1 collaboration

Ashish R Deshwar 1 collaboration

Harsha Murthy 1 collaboration

Maria D D'Agostino 1 collaboration

Lucie Dupuis 1 collaboration

Balram Gangaram 1 collaboration

Rebekah Jobling 1 collaboration

Emanuela Pannia 1 collaboration

Katrina Prescott 1 collaboration

Melody Redman 1 collaboration

Daryl A Scott 1 collaboration

Yi W Wang 1 collaboration

Zelia Schmederer 1 collaboration

Ashwin Dalal 1 collaboration

Asodu S Sarma 1 collaboration

James J Dowling 1 collaboration

Roberto Mendoza-Londono 1 collaboration

Anne Slavotinek 1 collaboration

Elizabeth J Bhoj 1 collaboration

Natalie Burrill 1 collaboration

Haley Crane 1 collaboration

Nahla Khalek 1 collaboration

Shelly Soni 1 collaboration

K Taylor Wild 1 collaboration

Morgan McManus 1 collaboration

Katherine Szigety 1 collaboration

Edward R Oliver 1 collaboration

Emily Partridge 1 collaboration

Sonika Agarwal 1 collaboration

Allan Fisher 1 collaboration

Jing Wang 1 collaboration

Julie S Moldenhauer 1 collaboration

Sawona Biswas 1 collaboration

Batsal Devkota 1 collaboration

Donna Berrodin 1 collaboration

Matthew A Deardorff 1 collaboration

Jennifer Tarpinian 1 collaboration

Loiusa Pyle 1 collaboration

Jasmine Montgomery 1 collaboration

Tyrah Williams 1 collaboration

Sierra Fortunato 1 collaboration

Jamila Weatherly 1 collaboration

Deborah McEldrew 1 collaboration

Manindar Kaur 1 collaboration

Sarah E Raible 1 collaboration

Alisha Wilkens 1 collaboration

Nancy B Spinner 1 collaboration

Ian D Krantz 1 collaboration

Erum A Hartung 1 collaboration

Joseph Glessner 1 collaboration

Deborah Watson 1 collaboration

E Deniz 1 collaboration

M Pasha 1 collaboration

M E Guerra 1 collaboration

S Viviano 1 collaboration

W Ji 1 collaboration

M Konstantino 1 collaboration

L Jeffries 1 collaboration

S A Lakhani 1 collaboration

L Medne 1 collaboration

C Skraban 1 collaboration

I Krantz 1 collaboration

M K Khokha 1 collaboration

Emma C Bedoukian 1 collaboration

Stefan Rentas 1 collaboration

Qing Shao 1 collaboration

James Treat 1 collaboration

Dale W Laird 1 collaboration

Kathleen E Sullivan 1 collaboration

Alyssa Ritter 1 collaboration

Justin H Berger 1 collaboration

Deborah Copenheaver 1 collaboration

Jane Juusola 1 collaboration

Kimberly Lin 1 collaboration

Sandra Yang 1 collaboration

Siddharth Banka 1 collaboration

Rebecca Sayer 1 collaboration

Catherine Breen 1 collaboration

Stephanie Barton 1 collaboration

Julija Pavaine 1 collaboration

Vishnu A Cuddapah 1 collaboration

Jill Clayton-Smith 1 collaboration

Sandra Amaral 1 collaboration

Susan Furth 1 collaboration

Stacey Drant 1 collaboration

Wendy Hsiao 1 collaboration

Lauren Galea 1 collaboration

Nina B Gold 1 collaboration

Sonya Lopez 1 collaboration

Reed E Pyeritz 1 collaboration

Manuela Wiessner 1 collaboration

Reza Maroofian 1 collaboration

Meng-Yuan Ni 1 collaboration

Andrea Pedroni 1 collaboration

Juliane S Müller 1 collaboration

Rolf Stucka 1 collaboration

Christian Beetz 1 collaboration

Stephanie Efthymiou 1 collaboration

Filippo M Santorelli 1 collaboration

Ahmed A Alfares 1 collaboration

Changlian Zhu 1 collaboration

Anna Uhrova Meszarosova 1 collaboration

Elham Alehabib 1 collaboration

Somayeh Bakhtiari 1 collaboration

Andreas R Janecke 1 collaboration

Maria Gabriela Otero 1 collaboration

Jin Yun Helen Chen 1 collaboration

James T Peterson 1 collaboration

Tim M Strom 1 collaboration

Peter De Jonghe 1 collaboration

Tine Deconinck 1 collaboration

Willem De Ridder 1 collaboration

Jonathan De Winter 1 collaboration

Rossella Pasquariello 1 collaboration

Ivana Ricca 1 collaboration

Majid Alfadhel 1 collaboration

Bart P van de Warrenburg 1 collaboration

Ruben Portier 1 collaboration

Carsten Bergmann 1 collaboration

Saghar Ghasemi Firouzabadi 1 collaboration

Sheng Chih Jin 1 collaboration

Kaya Bilguvar 1 collaboration

Sherifa Hamed 1 collaboration

Mohammed Abdelhameed 1 collaboration

Nourelhoda A Haridy 1 collaboration

Shazia Maqbool 1 collaboration

Fatima Rahman 1 collaboration

Najwa Anwar 1 collaboration

Jenny Carmichael 1 collaboration

Alistair Pagnamenta 1 collaboration

Nick W Wood 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Tobias Haack 1 collaboration

Maja Di Rocco 1 collaboration

Isabella Ceccherini 1 collaboration

Michele Iacomino 1 collaboration

Federico Zara 1 collaboration

Vincenzo Salpietro 1 collaboration

Marcello Scala 1 collaboration

Marta Rusmini 1 collaboration

Yiran Xu 1 collaboration

Yinghong Wang 1 collaboration

Yasuhiro Suzuki 1 collaboration

Kishin Koh 1 collaboration

Haitian Nan 1 collaboration

Hiroyuki Ishiura 1 collaboration

Shoji Tsuji 1 collaboration

Laëtitia Lambert 1 collaboration

Emmanuelle Schmitt 1 collaboration

Elodie Lacaze 1 collaboration

Hanna Küpper 1 collaboration

David Dredge 1 collaboration

Amy Goldstein 1 collaboration

Mary J H Willis 1 collaboration

Katheryn Grand 1 collaboration

John M Graham 1 collaboration

Richard A Lewis 1 collaboration

Francisca Millan 1 collaboration

Özgür Duman 1 collaboration

Nihal Dündar 1 collaboration

Gökhan Uyanik 1 collaboration

Ludger Schöls 1 collaboration

Peter Nürnberg 1 collaboration

Gudrun Nürnberg 1 collaboration

Andrea Catala Bordes 1 collaboration

Pavel Seeman 1 collaboration

Martin Kuchar 1 collaboration

Adriana Rebelo 1 collaboration

Filipa Bouçanova 1 collaboration

Jean-Jacques Medard 1 collaboration

Roman Chrast 1 collaboration

Michaela Auer-Grumbach 1 collaboration

Fowzan S Alkuraya 1 collaboration

Hanan Shamseldin 1 collaboration

Saeed Al Tala 1 collaboration

Jamileh Rezazadeh Varaghchi 1 collaboration

Maryam Najafi 1 collaboration

Selina Deschner 1 collaboration

Dieter Gläser 1 collaboration

Wolfgang Hüttel 1 collaboration

Michael C Kruer 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Yoshihisa Takiyama 1 collaboration

Stephan Züchner 1 collaboration

Jonathan Baets 1 collaboration

Matthis Synofzik 1 collaboration

Rebecca Schüle 1 collaboration

Rita Horvath 1 collaboration

Henry Houlden 1 collaboration

Luca Bartesaghi 1 collaboration

Hwei-Jen Lee 1 collaboration

Konstantinos Ampatzis 1 collaboration

Tyler Mark Pierson 1 collaboration

Jan Senderek 1 collaboration

Alyssa L Ritter 1 collaboration

Hiroshi Hayashi 1 collaboration

Amanda M Ackermann 1 collaboration

Stephanie Hanke 1 collaboration

Sanmati Cuddapah 1 collaboration

Elizabeth Bhoj 1 collaboration

Yukiko Kuroda 1 collaboration

Ryojun Takeda 1 collaboration

Audrey Bibb 1 collaboration

Salima El Chehadeh 1 collaboration

Amélie Piton 1 collaboration

Jeanine Ohl 1 collaboration

Mary K Kukolich 1 collaboration

Keisuke Nagasaki 1 collaboration

Kohji Kato 1 collaboration

Tomoo Ogi 1 collaboration

Tricia Bhatti 1 collaboration

Pierre Russo 1 collaboration

Bryan Krock 1 collaboration

Jill R Murrell 1 collaboration

Jennifer A Sullivan 1 collaboration

Nicholas Stong 1 collaboration

Kentaro Sawano 1 collaboration

Erin Torti 1 collaboration

Rebecca Willaert 1 collaboration

Yue Si 1 collaboration

William Ross Wilcox 1 collaboration

Katrine Verena Wirgenes 1 collaboration

Kristian Thomassen 1 collaboration

Katherine Carlotti 1 collaboration

Angelika Erwin 1 collaboration

Joanna Lazier 1 collaboration

Thorsten Marquardt 1 collaboration

Miao He 1 collaboration

Andrew C Edmondson 1 collaboration

John Flibotte 1 collaboration

Steven Joffe 1 collaboration

David Munson 1 collaboration

Joshua Radack 1 collaboration

Monica H Wojcik 1 collaboration

Sabrina Malone Jenkins 1 collaboration

Russell T Nye 1 collaboration

Affiliations

Publications (20)

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

A Centralized Approach for Practicing Genomic Medicine.

Ciliopathies: Coloring outside of the lines.

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.

Clinical utility of exome sequencing in infantile heart failure.

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Expanding the phenotypic spectrum of ARCN1-related syndrome.

Influence of Genetic Information on Neonatologists' Decisions: A Psychological Experiment.

Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021.

Réseau de co-auteurs