S Demirdas

Serwet Demirdas 20 collaborations

Anita Rauch 3 collaborations

Pascal Joset 3 collaborations

None None 3 collaborations

Tjitske Kleefstra 3 collaborations

M Carola Zillikens 3 collaborations

Ramon Bonte 3 collaborations

Michiel Bongaerts 3 collaborations

Henk J Blom 3 collaborations

George J G Ruijter 3 collaborations

Usha Kini 2 collaborations

Boris Keren 2 collaborations

Katharina Steindl 2 collaborations

Eric W Klee 2 collaborations

Dong Li 2 collaborations

John M Graham 2 collaborations

Tyler Mark Pierson 2 collaborations

Zografia Zervou 2 collaborations

Meena Balasubramanian 2 collaborations

Alexander J M Dingemans 2 collaborations

Shadi Albaba 2 collaborations

Ruth Armstrong 2 collaborations

Nicola Ragge 2 collaborations

Sahar Mansour 2 collaborations

Alice S Brooks 2 collaborations

Bertrand Isidor 2 collaborations

Rolph Pfundt 2 collaborations

Ruth Newbury-Ecob 2 collaborations

Hidde H Huidekoper 2 collaborations

Edwin H Jacobs 2 collaborations

Yolande van Bever 2 collaborations

Marco Tartaglia 2 collaborations

Marcello Niceta 2 collaborations

Charlotte W Ockeloen 2 collaborations

Martina Wilke 2 collaborations

Marcel J T Reinders 2 collaborations

Saskia N van der Crabben 2 collaborations

Evert F S van Velsen 2 collaborations

Marjon A van Slegtenhorst 2 collaborations

Michael J Lyons 2 collaborations

Ans T van der Ploeg 2 collaborations

Margreet A E M Wagenmakers 2 collaborations

Brett V Johnson 1 collaboration

Raman Kumar 1 collaboration

Sabrina Oishi 1 collaboration

Suzy Alexander 1 collaboration

Maria Kasherman 1 collaboration

Michelle Sanchez Vega 1 collaboration

Atma Ivancevic 1 collaboration

Alison Gardner 1 collaboration

Deepti Domingo 1 collaboration

Mark Corbett 1 collaboration

Euan Parnell 1 collaboration

Sehyoun Yoon 1 collaboration

Tracey Oh 1 collaboration

Matthew Lines 1 collaboration

Henrietta Lefroy 1 collaboration

Margot Van Allen 1 collaboration

Sabine Grønborg 1 collaboration

Sandra Mercier 1 collaboration

Sébastien Küry 1 collaboration

Stéphane Bézieau 1 collaboration

Laurent Pasquier 1 collaboration

Martine Raynaud 1 collaboration

Alexandra Afenjar 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Julie Désir 1 collaboration

Lionel Van Maldergem 1 collaboration

Martina Marangoni 1 collaboration

Nicola Dikow 1 collaboration

David A Koolen 1 collaboration

Peter M VanHasselt 1 collaboration

Marjan Weiss 1 collaboration

Petra Zwijnenburg 1 collaboration

Joaquim Sa 1 collaboration

Claudia Falcao Reis 1 collaboration

Carlos López-Otín 1 collaboration

Olaya Santiago-Fernández 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Amy Goldstein 1 collaboration

Suneeta Madan-Khetarpal 1 collaboration

Elena Infante 1 collaboration

Elaine Zackai 1 collaboration

Carey Mcdougall 1 collaboration

Vinodh Narayanan 1 collaboration

Keri Ramsey 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Loren Pena 1 collaboration

Vandana Shashi 1 collaboration

Kelly Schoch 1 collaboration

Jennifer A Sullivan 1 collaboration

Filippo Pinto E Vairo 1 collaboration

Pavel N Pichurin 1 collaboration

Sarah A Ewing 1 collaboration

Sarah S Barnett 1 collaboration

M Scott Perry 1 collaboration

Mary Kay Koenig 1 collaboration

Catherine E Keegan 1 collaboration

Jane L Schuette 1 collaboration

Stephanie Asher 1 collaboration

Yezmin Perilla-Young 1 collaboration

Laurie D Smith 1 collaboration

Jill A Rosenfeld 1 collaboration

Elizabeth Bhoj 1 collaboration

Paige Kaplan 1 collaboration

Renske Oegema 1 collaboration

Ellen van Binsbergen 1 collaboration

Bert van der Zwaag 1 collaboration

Marie Falkenberg Smeland 1 collaboration

Ioana Cutcutache 1 collaboration

Matthew Page 1 collaboration

Martin Armstrong 1 collaboration

Angela E Lin 1 collaboration

Marcie A Steeves 1 collaboration

Nicolette den Hollander 1 collaboration

Mariëtte J V Hoffer 1 collaboration

Margot R F Reijnders 1 collaboration

Daniel C Koboldt 1 collaboration

Dennis Bartholomew 1 collaboration

Theresa Mihalic Mosher 1 collaboration

Scott E Hickey 1 collaboration

Christine Shieh 1 collaboration

Pedro A Sanchez-Lara 1 collaboration

Kamer Tezcan 1 collaboration

G B Schaefer 1 collaboration

Noelle R Danylchuk 1 collaboration

Alexander Asamoah 1 collaboration

Kelly E Jackson 1 collaboration

Naomi Yachelevich 1 collaboration

Margaret Au 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Peter Penzes 1 collaboration

Stephen A Wood 1 collaboration

Thomas Burne 1 collaboration

Michael Piper 1 collaboration

Jozef Gécz 1 collaboration

Lachlan A Jolly 1 collaboration

Wei Zhou 1 collaboration

Jeroen Gj van Rooij 1 collaboration

Denise M van de Laarschot 1 collaboration

Hennie Bruggenwirth 1 collaboration

Natasha M Appelman-Dijkstra 1 collaboration

Peter R Ebeling 1 collaboration

Annemieke Jmh Verkerk 1 collaboration

Ryan J Billar 1 collaboration

Wiem Manoubi 1 collaboration

Sarina G Kant 1 collaboration

René M H Wijnen 1 collaboration

Johannes M Schnater 1 collaboration

Ruth Richardson 1 collaboration

Thabo M Yates 1 collaboration

Helen Cox 1 collaboration

Sofia Douzgou 1 collaboration

Francis H Sansbury 1 collaboration

Katherine B Burke 1 collaboration

Andrew E Fry 1 collaboration

Saba Sharif 1 collaboration

Alison Foster 1 collaboration

Annachiara De Sandre-Giovannoli 1 collaboration

Sahar Elouej 1 collaboration

Pradeep Vasudevan 1 collaboration

Kate Wilson 1 collaboration

Helen Stewart 1 collaboration

Solveig Heide 1 collaboration

Caroline Nava 1 collaboration

Marie Vincent 1 collaboration

Sebastien Küry 1 collaboration

Meyke Schouten 1 collaboration

Erika Leenders 1 collaboration

Wendy K Chung 1 collaboration

Arie van Haeringen 1 collaboration

Thomas Scheffner 1 collaboration

Francois-Guillaume Debray 1 collaboration

Susan M White 1 collaboration

Maria Irene Valenzuela Palafoll 1 collaboration

Janneke G Langendonk 1 collaboration

Monique Williams 1 collaboration

Willem Onkenhout 1 collaboration

Geeske M van Woerden 1 collaboration

Richelle Senden 1 collaboration

Charlotte de Konink 1 collaboration

Rossella A Trezza 1 collaboration

Anwar Baban 1 collaboration

Jennifer A Bassetti 1 collaboration

Lynne M Bird 1 collaboration

Bregje W van Bon 1 collaboration

Qiaoning Guan 1 collaboration

Carlo Marcelis 1 collaboration

Joel M Rosado 1 collaboration

Lisa A Schimmenti 1 collaboration

Amy R Shikany 1 collaboration

Paulien A Terhal 1 collaboration

Kathryn Nicole Weaver 1 collaboration

Marja W Wessels 1 collaboration

Hester van Wieringen 1 collaboration

Anna C Hurst 1 collaboration

Catherine F Gooch 1 collaboration

Ype Elgersma 1 collaboration

Jiarna Rose Zerella 1 collaboration

Claire C Homan 1 collaboration

Peer Arts 1 collaboration

Xuzhu Lin 1 collaboration

Sam John Spinelli 1 collaboration

Parvathy Venugopal 1 collaboration

Milena Babic 1 collaboration

Peter Brautigan 1 collaboration

Lynda Truong 1 collaboration

Luis Alberto Arriola-Martinez 1 collaboration

Sarah Moore 1 collaboration

Rachel Hollins 1 collaboration

Wendy Parker 1 collaboration

Hung Nguyen 1 collaboration

Karin S Kassahn 1 collaboration

Susan Branford 1 collaboration

Simone K Feurstein 1 collaboration

Lise Larcher 1 collaboration

Flore Sicre de Fontbrune 1 collaboration

Sonja de Munnik 1 collaboration

Hélène A Poirel 1 collaboration

Benedicte Brichard 1 collaboration

Kristiana Gordon 1 collaboration

Erg Variants Research Network 1 collaboration

Marcin W Wlodarski 1 collaboration

Ashwin Lakshman Koppayi 1 collaboration

Sara Dobbins 1 collaboration

Pim G N J Mutsaers 1 collaboration

Kim E Nichols 1 collaboration

Ninad Oak 1 collaboration

Desiree DeMille 1 collaboration

Rong Mao 1 collaboration

Ali Crawford 1 collaboration

Julie McCarrier 1 collaboration

Donald Basel 1 collaboration

Josue Flores-Daboub 1 collaboration

Michael W Drazer 1 collaboration

Kerry Phillips 1 collaboration

Nicola Poplawski 1 collaboration

Graeme M Birdsey 1 collaboration

Daniela Pirri 1 collaboration

Pia Ostergaard 1 collaboration

Annet Simons 1 collaboration

Lucy A Godley 1 collaboration

David M Ross 1 collaboration

Devendra K Hiwase 1 collaboration

Jean Soulier 1 collaboration

Anna L Brown 1 collaboration

Catherine L Carmichael 1 collaboration

Hamish S Scott 1 collaboration

Christopher N Hahn 1 collaboration

Schaida Schirwani 1 collaboration

Deanna Alexis Carere 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Francisca Milan Zamora 1 collaboration

Yue Si 1 collaboration

Rachel Rabin 1 collaboration

John Pappas 1 collaboration

Deborah L Renaud 1 collaboration

Natalie Hauser 1 collaboration

Evan Reid 1 collaboration

Patricia Blanchet 1 collaboration

Nichola Foulds 1 collaboration

Abhijit Dixit 1 collaboration

Richard Fisher 1 collaboration

Benjamin Cogne 1 collaboration

Samantha Schrier Vergano 1 collaboration

Natalie Dykzeul 1 collaboration

Julie S Cohen 1 collaboration

Katheryn Grand 1 collaboration

Dayna Morel 1 collaboration

Anne Slavotinek 1 collaboration

Hessa F Albassam 1 collaboration

Swati Naik 1 collaboration

John Dean 1 collaboration

Cinzia Costa 1 collaboration

Maria Giovanna Tedesco 1 collaboration

Rachel E Harrison 1 collaboration

Arjan Bouman 1 collaboration

Emily Palen 1 collaboration

Thomas D Challman 1 collaboration

Marjolein H Willemsen 1 collaboration

Julie Vogt 1 collaboration

Christopher Cunniff 1 collaboration

Katherine Bergstrom 1 collaboration

Jagdeep S Walia 1 collaboration

Ange-Line Bruel 1 collaboration

Fowzan S Alkuraya 1 collaboration

Valerie Slegesky 1 collaboration

Naomi Meeks 1 collaboration

Paula Girotto 1 collaboration

Diana Johnson 1 collaboration

Paolo Prontera 1 collaboration

Sally Ann Lynch 1 collaboration

Janneke Langendonk 1 collaboration

Walter de Valk 1 collaboration

Lisa M van den Bersselaar 1 collaboration

Rosan Lechner 1 collaboration

Jessica Bos 1 collaboration

Suzanne I M Alsters 1 collaboration

Marieke J H Baars 1 collaboration

Annette F Baas 1 collaboration

Özlem Baysal 1 collaboration

Eelco Dulfer 1 collaboration

Noor A A Giesbertz 1 collaboration

Apollonia T J M Helderman-van den Enden 1 collaboration

Yvonne Hilhorst-Hofstee 1 collaboration

Marlies J E Kempers 1 collaboration

Fenne L Komdeur 1 collaboration

Bart Loeys 1 collaboration

Daniëlle Majoor-Krakauer 1 collaboration

Eline Overwater 1 collaboration

Peter J van Tintelen 1 collaboration

Marsha Voorendt 1 collaboration

Vivian de Waard 1 collaboration

Alessandra Maugeri 1 collaboration

Hennie T Brüggenwirth 1 collaboration

Ingrid M B H van de Laar 1 collaboration

Arjan C Houweling 1 collaboration

Roel Plooij 1 collaboration

Remco G M Timmermans 1 collaboration

David Hanff 1 collaboration

Sedat Demirdas 1 collaboration

Jörg Hense 1 collaboration

Ulrich Dührsen 1 collaboration

Andreas Hüttmann 1 collaboration

Haidar Saify Nabiabad 1 collaboration

Massoume Amini 1 collaboration

Daniel L Polla 1 collaboration

Andrew C Edmondson 1 collaboration

Sandrine Duvet 1 collaboration

Michael E March 1 collaboration

Ana Berta Sousa 1 collaboration

Anna Lehman 1 collaboration

Dmitriy Niyazov 1 collaboration

Fleur van Dijk 1 collaboration

Anneke J A Kievit 1 collaboration

Celine Schulz 1 collaboration

Linlea Armstrong 1 collaboration

Xin Bi 1 collaboration

Daniel J Rader 1 collaboration

Kosuke Izumi 1 collaboration

Elaine H Zackai 1 collaboration

Elisa de Franco 1 collaboration

Paula Jorge 1 collaboration

Sophie C Huffels 1 collaboration

Marina Hommersom 1 collaboration

Sian Ellard 1 collaboration

Dirk J Lefeber 1 collaboration

Avni Santani 1 collaboration

Nicholas J Hand 1 collaboration

Hans van Bokhoven 1 collaboration

Miao He 1 collaboration

Arjan P M de Brouwer 1 collaboration

Sally Pezaro 1 collaboration

Isabelle Brock 1 collaboration

Maggie Buckley 1 collaboration

Sarahann Callaway 1 collaboration

Alan Hakim 1 collaboration

Cheryl Harris 1 collaboration

Carole High Gross 1 collaboration

Megan Karanfil 1 collaboration

Isabelle Le Ray 1 collaboration

Laura McGillis 1 collaboration

Bonnie Nasar 1 collaboration

Melissa Russo 1 collaboration

Lorna Ryan 1 collaboration

Natalie Blagowidow 1 collaboration

Jet Coenen-van der Spek 1 collaboration

Raissa Relator 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Michael A Levy 1 collaboration

Matthew L Tedder 1 collaboration

Raymond J Louie 1 collaboration

Robin S Fletcher 1 collaboration

Hannah W Moore 1 collaboration

Anna Childers 1 collaboration

Ellyn R Farrelly 1 collaboration

Neena L Champaigne 1 collaboration

David B Everman 1 collaboration

R Curtis Rogers 1 collaboration

Steven A Skinner 1 collaboration

Alicia Renck 1 collaboration

Dena R Matalon 1 collaboration

Shelley K Dills 1 collaboration

Berrin Monteleone 1 collaboration

Laura Donker Kaat 1 collaboration

Sharon M Kolk 1 collaboration

Patrick Rump 1 collaboration

Bekim Sadikovic 1 collaboration

Kameryn M Butler 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

Stylianos E Antonarakis 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

Hossein Darvish 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

Melissa A Kelly 1 collaboration

Stanislav Kmoch 1 collaboration

Benjamin R Leadem 1 collaboration

Marina Macchiaiolo 1 collaboration

Martin Magner 1 collaboration

Giorgia Mandrile 1 collaboration

Francesca Mattioli 1 collaboration

Megan McEown 1 collaboration

Sarah K Meadows 1 collaboration

Livija Medne 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

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

Sylvia Redon 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

Cara Skraban 1 collaboration

Elliot Stolerman 1 collaboration

Bonnie R Sullivan 1 collaboration

Isabelle Thiffault 1 collaboration

Kevin Uguen 1 collaboration

Luis A Umaña 1 collaboration

Quinten Waisfisz 1 collaboration

Camerun Washington 1 collaboration

Lance H Rodan 1 collaboration

Richard M Myers 1 collaboration

Gregory M Cooper 1 collaboration

Esmee Oussoren 1 collaboration

Robert M W Hofstra 1 collaboration

Emma J Dogterom 1 collaboration

Nicole M Muschol 1 collaboration

Sandra Pohl 1 collaboration

Jan C van der Meijden 1 collaboration

Dimitris Rizopoulos 1 collaboration

Esmée Oussoren 1 collaboration

Ryan Billar 1 collaboration

Stijn Heyman 1 collaboration

Sarina Kant 1 collaboration

René Wijnen 1 collaboration

Frank Sleutels 1 collaboration

J Marco Schnater 1 collaboration

M O Mol 1 collaboration

T J van Ham 1 collaboration

N Bannink 1 collaboration

H T Bruggenwirth 1 collaboration

J C Escher 1 collaboration

J M Kros 1 collaboration

J J M Renkens 1 collaboration

L van Unen 1 collaboration

R M Verdijk 1 collaboration

J Vlot 1 collaboration

V J M Verhoeven 1 collaboration

Affiliations

Publications (22)

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.

Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa.

Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures.

Treatment Outcome in Patients with Primary or Secondary Transformed Indolent B-Cell Lymphomas.

Specific delivering of RNAi using Spike's aptamer-functionalized lipid nanoparticles for targeting SARS-CoV-2: A strong anti-Covid drug in a clinical case study.

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines.

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

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

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Mucolipidosis type II and type III: a systematic review of 843 published cases.

Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation.

Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.

Réseau de co-auteurs