Janneke H M Schuurs-Hoeijmakers

Affiliations

Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud university medical center, Nijmegen, the Netherlands.

Publications (16)

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

European journal of medical genetics

Avec: Linda A J Hendricks , Nicoline Hoogerbrugge , Hanka Venselaar , Stefan Aretz , Isabel Spier , Eric Legius , Hilde Brems , Robin de Putter , Kathleen B M Claes , D Gareth Evans , Emma R Woodward , Maurizio Genuardi , Fulvia Brugnoletti , Yvette van Ierland , Kim Dijke , Emma Tham , Bianca Tesi , Janneke H M Schuurs-Hoeijmakers , Maud Branchaud , Hector Salvador , Arne Jahn , Simon Schnaiter , Violetta Christophidou Anastasiadou , Joan Brunet , Carla Oliveira , Laura Roht , Ana Blatnik , Arvids Irmejs , Auteur inconnu , Arjen R Mensenkamp , Janet R Vos

Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.

International dental journal

Avec: Ane J Schei-Andersen , Bart van Oirschot , Meggie M C M Drissen , Jolanda Schieving , Janneke H M Schuurs-Hoeijmakers , Janet R Vos , Claire M Barton , Nicoline Hoogerbrugge

Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).

Cancers

Avec: Linda A J Hendricks , Katja C J Verbeek , Janneke H M Schuurs-Hoeijmakers , Arjen R Mensenkamp , Hilde Brems , Robin de Putter , Violetta C Anastasiadou , Marie-Charlotte Villy , Arne Jahn , Verena Steinke-Lange , Margherita Baldassarri , Arvids Irmejs , Mirjam M de Jong , Thera P Links , Edward M Leter , Daniëlle G M Bosch , Hildegunn Høberg-Vetti , Marianne Tveit Haavind , Kjersti Jørgensen , Lovise Mæhle , Ana Blatnik , Joan Brunet , Esther Darder , Emma Tham , Nicoline Hoogerbrugge , Janet R Vos

Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single-center study.

International journal of cancer

Avec: Ane J Schei-Andersen , Linda A J Hendricks , Rachel S van der Post , Arjen R Mensenkamp , Jolanda Schieving , Auteur inconnu , Janneke H M Schuurs-Hoeijmakers , Nicoline Hoogerbrugge , Janet R Vos

A review on age-related cancer risks in PTEN hamartoma tumor syndrome.

Clinical genetics

Avec: Linda A J Hendricks , Nicoline Hoogerbrugge , Janneke H M Schuurs-Hoeijmakers , Janet R Vos

Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome.

European journal of medical genetics

Avec: Meggie M C M Drissen , Jolanda H Schieving , Janneke H M Schuurs-Hoeijmakers , Janet R Vos , Nicoline Hoogerbrugge

Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome.

Journal of clinical research in pediatric endocrinology

Avec: Esther M G Bormans , Janneke H M Schuurs-Hoeijmakers , Petra van Setten , Linda A J Hendricks , Meggie M C M Drissen , Martin Gotthardt , Hedi L Claahsen-van der Grinten , Nicoline Hoogerbrugge , Jolanda H Schieving

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.

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

Avec: Roos van der Donk , Sandra Jansen , Janneke H M Schuurs-Hoeijmakers , David A Koolen , Lia C M J Goltstein , Alexander Hoischen , Han G Brunner , Patrick Kemmeren , Christoffer Nellåker , Lisenka E L M Vissers , Bert B A de Vries , Jayne Y Hehir-Kwa

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.

American journal of medical genetics. Part A

Avec: Bram C F Veldman , Willemijn F E Kuper , Marc Lilien , Janneke H M Schuurs-Hoeijmakers , Carlo Marcelis , Milan Phan , Ymkje Hettinga , Herman E Talsma , Peter M van Hasselt , Hanneke A Haijes

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.

Journal of clinical immunology

Avec: Rob J W Arts , Tristan J van der Linden , Caspar I van der Made , Marianne M C Hendriks , Wouter A van der Heijden , Quirijn de Mast , Janneke H M Schuurs-Hoeijmakers , Annet Simons , András N Spaan , Catharina M Mulders-Manders , Frank L van de Veerdonk

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.

Journal of the National Cancer Institute

Avec: Linda A J Hendricks , Nicoline Hoogerbrugge , Arjen R Mensenkamp , Joan Brunet , Roser Lleuger-Pujol , Hildegunn Høberg-Vetti , Marianne Tveit Haavind , Giovanni Innella , Daniela Turchetti , Stefan Aretz , Isabel Spier , Marc Tischkowitz , Arne Jahn , Thera P Links , Maran J W Olderode-Berends , Ana Blatnik , Edward M Leter , D Gareth Evans , Emma R Woodward , Verena Steinke-Lange , Violetta C Anastasiadou , Chrystelle Colas , Marie-Charlotte Villy , Patrick R Benusiglio , Anna Gerasimenko , Valeria Barili , Maud Branchaud , Claude Houdayer , Bianca Tesi , M Omer Yazicioglu , Rachel S van der Post , Janneke H M Schuurs-Hoeijmakers , Auteur inconnu , Janet R Vos

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

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

Avec: Daniel L Polla , Mohammad Ali Farazi Fard , Zahra Tabatabaei , Parham Habibzadeh , Olga A Levchenko , Pooneh Nikuei , Periklis Makrythanasis , Mureed Hussain , Sandra von Hardenberg , Sirous Zeinali , Mohammad-Sadegh Fallah , Janneke H M Schuurs-Hoeijmakers , Mohsin Shahzad , Fareeha Fatima , Neelam Fatima , Laura Donker Kaat , Hennie T Bruggenwirth , Leah R Fleming , John Condie , Rafal Ploski , Agnieszka Pollak , Jacek Pilch , Nina A Demina , Alena L Chukhrova , Vasilina S Sergeeva , Hanka Venselaar , Amira T Masri , Hanan Hamamy , Federico A Santoni , Katrin Linda , Zubair M Ahmed , Nael Nadif Kasri , Arjan P M de Brouwer , Anke K Bergmann , Sven Hethey , Majid Yavarian , Muhammad Ansar , Saima Riazuddin , Sheikh Riazuddin , Mohammad Silawi , Gaia Ruggeri , Filomena Pirozzi , Ebrahim Eftekhar , Afsaneh Taghipour Sheshdeh , Shima Bahramjahan , Ghayda M Mirzaa , Alexander V Lavrov , Stylianos E Antonarakis , Mohammad Ali Faghihi , Hans van Bokhoven

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Genome medicine

Avec: Peer Arts , Annet Simons , Mofareh S AlZahrani , Elanur Yilmaz , Eman AlIdrissi , Koen J van Aerde , Njood Alenezi , Hamza A AlGhamdi , Hadeel A AlJubab , Abdulrahman A Al-Hussaini , Fahad AlManjomi , Alaa B Alsaad , Badr Alsaleem , Abdulrahman A Andijani , Ali Asery , Walid Ballourah , Chantal P Bleeker-Rovers , Marcel van Deuren , Michiel van der Flier , Erica H Gerkes , Christian Gilissen , Murad K Habazi , Jayne Y Hehir-Kwa , Stefanie S Henriet , Esther P Hoppenreijs , Sarah Hortillosa , Chantal H Kerkhofs , Riikka Keski-Filppula , Stefan H Lelieveld , Khurram Lone , Marius A MacKenzie , Arjen R Mensenkamp , Jukka Moilanen , Marcel Nelen , Jaap Ten Oever , Judith Potjewijd , Pieter van Paassen , Janneke H M Schuurs-Hoeijmakers , Anna Simon , Tomasz Stokowy , Maartje van de Vorst , Maaike Vreeburg , Anja Wagner , Gijs T J van Well , Dimitra Zafeiropoulou , Evelien Zonneveld-Huijssoon , Joris A Veltman , Wendy A G van Zelst-Stams , Eissa A Faqeih , Frank L van de Veerdonk , Mihai G Netea , Alexander Hoischen

Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome.

European journal of medical genetics

Avec: Meggie M C M Drissen , Janet R Vos , Estel Collado Camps , Janneke H M Schuurs-Hoeijmakers , Jolanda H Schieving , Nicoline Hoogerbrugge

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

eLife

Avec: Anne Hebert , Annet Simons , Janneke H M Schuurs-Hoeijmakers , Hans J P M Koenen , Evelien Zonneveld-Huijssoon , Stefanie S V Henriet , Ellen J H Schatorjé , Esther P A H Hoppenreijs , Erika K S M Leenders , Etienne J M Janssen , Gijs W E Santen , Sonja A de Munnik , Simon V van Reijmersdal , Esther van Rijssen , Simone Kersten , Mihai G Netea , Ruben L Smeets , Frank L van de Veerdonk , Alexander Hoischen , Caspar I van der Made

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

American journal of human genetics

Avec: Caspar I van der Made , Simone Kersten , Odelia Chorin , Karin R Engelhardt , Gayatri Ramakrishnan , Helen Griffin , Ina Schim van der Loeff , Hanka Venselaar , Annick Raas Rothschild , Meirav Segev , Janneke H M Schuurs-Hoeijmakers , Tuomo Mantere , Rick Essers , Masoud Zamani Esteki , Amir L Avital , Peh Sun Loo , Annet Simons , Rolph Pfundt , Adilia Warris , Marieke M Seyger , Frank L van de Veerdonk , Mihai G Netea , Mary A Slatter , Terry Flood , Andrew R Gennery , Amos J Simon , Atar Lev , Shirley Frizinsky , Ortal Barel , Mirjam van der Burg , Raz Somech , Sophie Hambleton , Stefanie S V Henriet , Alexander Hoischen

Réseau de co-auteurs

Nicoline Hoogerbrugge 9 collaborations

Janet R Vos 8 collaborations

Linda A J Hendricks 6 collaborations

Arjen R Mensenkamp 5 collaborations

Meggie M C M Drissen 4 collaborations

Alexander Hoischen 4 collaborations

Annet Simons 4 collaborations

Frank L van de Veerdonk 4 collaborations

Hanka Venselaar 3 collaborations

Arne Jahn 3 collaborations

Joan Brunet 3 collaborations

Ana Blatnik 3 collaborations

None None 3 collaborations

Jolanda H Schieving 3 collaborations

Caspar I van der Made 3 collaborations

Mihai G Netea 3 collaborations

Stefan Aretz 2 collaborations

Isabel Spier 2 collaborations

Hilde Brems 2 collaborations

Robin de Putter 2 collaborations

D Gareth Evans 2 collaborations

Emma R Woodward 2 collaborations

Emma Tham 2 collaborations

Bianca Tesi 2 collaborations

Maud Branchaud 2 collaborations

Arvids Irmejs 2 collaborations

Ane J Schei-Andersen 2 collaborations

Jolanda Schieving 2 collaborations

Violetta C Anastasiadou 2 collaborations

Marie-Charlotte Villy 2 collaborations

Verena Steinke-Lange 2 collaborations

Thera P Links 2 collaborations

Edward M Leter 2 collaborations

Hildegunn Høberg-Vetti 2 collaborations

Marianne Tveit Haavind 2 collaborations

Rachel S van der Post 2 collaborations

Jayne Y Hehir-Kwa 2 collaborations

Evelien Zonneveld-Huijssoon 2 collaborations

Stefanie S V Henriet 2 collaborations

Simone Kersten 2 collaborations

Eric Legius 1 collaboration

Kathleen B M Claes 1 collaboration

Maurizio Genuardi 1 collaboration

Fulvia Brugnoletti 1 collaboration

Yvette van Ierland 1 collaboration

Kim Dijke 1 collaboration

Hector Salvador 1 collaboration

Simon Schnaiter 1 collaboration

Violetta Christophidou Anastasiadou 1 collaboration

Carla Oliveira 1 collaboration

Laura Roht 1 collaboration

Bart van Oirschot 1 collaboration

Claire M Barton 1 collaboration

Katja C J Verbeek 1 collaboration

Margherita Baldassarri 1 collaboration

Mirjam M de Jong 1 collaboration

Daniëlle G M Bosch 1 collaboration

Kjersti Jørgensen 1 collaboration

Lovise Mæhle 1 collaboration

Esther Darder 1 collaboration

Esther M G Bormans 1 collaboration

Petra van Setten 1 collaboration

Martin Gotthardt 1 collaboration

Hedi L Claahsen-van der Grinten 1 collaboration

Roos van der Donk 1 collaboration

Sandra Jansen 1 collaboration

David A Koolen 1 collaboration

Lia C M J Goltstein 1 collaboration

Han G Brunner 1 collaboration

Patrick Kemmeren 1 collaboration

Christoffer Nellåker 1 collaboration

Lisenka E L M Vissers 1 collaboration

Bert B A de Vries 1 collaboration

Bram C F Veldman 1 collaboration

Willemijn F E Kuper 1 collaboration

Marc Lilien 1 collaboration

Carlo Marcelis 1 collaboration

Milan Phan 1 collaboration

Ymkje Hettinga 1 collaboration

Herman E Talsma 1 collaboration

Peter M van Hasselt 1 collaboration

Hanneke A Haijes 1 collaboration

Rob J W Arts 1 collaboration

Tristan J van der Linden 1 collaboration

Marianne M C Hendriks 1 collaboration

Wouter A van der Heijden 1 collaboration

Quirijn de Mast 1 collaboration

András N Spaan 1 collaboration

Catharina M Mulders-Manders 1 collaboration

Roser Lleuger-Pujol 1 collaboration

Giovanni Innella 1 collaboration

Daniela Turchetti 1 collaboration

Marc Tischkowitz 1 collaboration

Maran J W Olderode-Berends 1 collaboration

Chrystelle Colas 1 collaboration

Patrick R Benusiglio 1 collaboration

Anna Gerasimenko 1 collaboration

Valeria Barili 1 collaboration

Claude Houdayer 1 collaboration

M Omer Yazicioglu 1 collaboration

Daniel L Polla 1 collaboration

Mohammad Ali Farazi Fard 1 collaboration

Zahra Tabatabaei 1 collaboration

Parham Habibzadeh 1 collaboration

Olga A Levchenko 1 collaboration

Pooneh Nikuei 1 collaboration

Periklis Makrythanasis 1 collaboration

Mureed Hussain 1 collaboration

Sandra von Hardenberg 1 collaboration

Sirous Zeinali 1 collaboration

Mohammad-Sadegh Fallah 1 collaboration

Mohsin Shahzad 1 collaboration

Fareeha Fatima 1 collaboration

Neelam Fatima 1 collaboration

Laura Donker Kaat 1 collaboration

Hennie T Bruggenwirth 1 collaboration

Leah R Fleming 1 collaboration

John Condie 1 collaboration

Rafal Ploski 1 collaboration

Agnieszka Pollak 1 collaboration

Jacek Pilch 1 collaboration

Nina A Demina 1 collaboration

Alena L Chukhrova 1 collaboration

Vasilina S Sergeeva 1 collaboration

Amira T Masri 1 collaboration

Hanan Hamamy 1 collaboration

Federico A Santoni 1 collaboration

Katrin Linda 1 collaboration

Zubair M Ahmed 1 collaboration

Nael Nadif Kasri 1 collaboration

Arjan P M de Brouwer 1 collaboration

Anke K Bergmann 1 collaboration

Sven Hethey 1 collaboration

Majid Yavarian 1 collaboration

Muhammad Ansar 1 collaboration

Saima Riazuddin 1 collaboration

Sheikh Riazuddin 1 collaboration

Mohammad Silawi 1 collaboration

Gaia Ruggeri 1 collaboration

Filomena Pirozzi 1 collaboration

Ebrahim Eftekhar 1 collaboration

Afsaneh Taghipour Sheshdeh 1 collaboration

Shima Bahramjahan 1 collaboration

Ghayda M Mirzaa 1 collaboration

Alexander V Lavrov 1 collaboration

Stylianos E Antonarakis 1 collaboration

Mohammad Ali Faghihi 1 collaboration

Hans van Bokhoven 1 collaboration

Peer Arts 1 collaboration

Mofareh S AlZahrani 1 collaboration

Elanur Yilmaz 1 collaboration

Eman AlIdrissi 1 collaboration

Koen J van Aerde 1 collaboration

Njood Alenezi 1 collaboration

Hamza A AlGhamdi 1 collaboration

Hadeel A AlJubab 1 collaboration

Abdulrahman A Al-Hussaini 1 collaboration

Fahad AlManjomi 1 collaboration

Alaa B Alsaad 1 collaboration

Badr Alsaleem 1 collaboration

Abdulrahman A Andijani 1 collaboration

Ali Asery 1 collaboration

Walid Ballourah 1 collaboration

Chantal P Bleeker-Rovers 1 collaboration

Marcel van Deuren 1 collaboration

Michiel van der Flier 1 collaboration

Erica H Gerkes 1 collaboration

Christian Gilissen 1 collaboration

Murad K Habazi 1 collaboration

Stefanie S Henriet 1 collaboration

Esther P Hoppenreijs 1 collaboration

Sarah Hortillosa 1 collaboration

Chantal H Kerkhofs 1 collaboration

Riikka Keski-Filppula 1 collaboration

Stefan H Lelieveld 1 collaboration

Khurram Lone 1 collaboration

Marius A MacKenzie 1 collaboration

Jukka Moilanen 1 collaboration

Marcel Nelen 1 collaboration

Jaap Ten Oever 1 collaboration

Judith Potjewijd 1 collaboration

Pieter van Paassen 1 collaboration

Anna Simon 1 collaboration

Tomasz Stokowy 1 collaboration

Maartje van de Vorst 1 collaboration

Maaike Vreeburg 1 collaboration

Anja Wagner 1 collaboration

Gijs T J van Well 1 collaboration

Dimitra Zafeiropoulou 1 collaboration

Joris A Veltman 1 collaboration

Wendy A G van Zelst-Stams 1 collaboration

Eissa A Faqeih 1 collaboration

Estel Collado Camps 1 collaboration

Anne Hebert 1 collaboration

Hans J P M Koenen 1 collaboration

Ellen J H Schatorjé 1 collaboration

Esther P A H Hoppenreijs 1 collaboration

Erika K S M Leenders 1 collaboration

Etienne J M Janssen 1 collaboration

Gijs W E Santen 1 collaboration

Sonja A de Munnik 1 collaboration

Simon V van Reijmersdal 1 collaboration

Esther van Rijssen 1 collaboration

Ruben L Smeets 1 collaboration

Odelia Chorin 1 collaboration

Karin R Engelhardt 1 collaboration

Gayatri Ramakrishnan 1 collaboration

Helen Griffin 1 collaboration

Ina Schim van der Loeff 1 collaboration

Annick Raas Rothschild 1 collaboration

Meirav Segev 1 collaboration

Tuomo Mantere 1 collaboration

Rick Essers 1 collaboration

Masoud Zamani Esteki 1 collaboration

Amir L Avital 1 collaboration

Peh Sun Loo 1 collaboration

Rolph Pfundt 1 collaboration

Adilia Warris 1 collaboration

Marieke M Seyger 1 collaboration

Mary A Slatter 1 collaboration

Terry Flood 1 collaboration

Andrew R Gennery 1 collaboration

Amos J Simon 1 collaboration

Atar Lev 1 collaboration

Shirley Frizinsky 1 collaboration

Ortal Barel 1 collaboration

Mirjam van der Burg 1 collaboration

Raz Somech 1 collaboration

Sophie Hambleton 1 collaboration