Debby M E I Hellebrekers

Affiliations

European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.

Publications (16)

Genetic Landscape of Patients With Dilated Cardiomyopathy and a Systemic Immune-Mediated Disease.

JACC. Heart failure

Avec: Sophie L V M Stroeks , Michiel T H M Henkens , Fernando Dominguez , Marco Merlo , Debby M E I Hellebrekers , Esther Gonzalez-Lopez , Matteo Dal Ferro , Juan Pablo Ochoa , Francesco Venturelli , Godelieve R F Claes , Max F G H M Venner , Ingrid P C Krapels , Els K Vanhoutte , Pieter van Paassen , Arthur van den Wijngaard , Maurits A Sikking , Rick van Leeuwen , Myrurgia Abdul Hamid , Xiaofei Li , Han G Brunner , Gianfranco Sinagra , Pablo Garcia-Pavia , Stephane R B Heymans , Job A J Verdonschot

Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.

Molecular genetics & genomic medicine

Avec: Maria Eleftheriadou , Evita Medici-van den Herik , Kyra Stuurman , Yolande van Bever , Debby M E I Hellebrekers , Marjon van Slegtenhorst , George Ruijter , Tahsin Stefan Barakat

Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.

European journal of human genetics : EJHG

Avec: Le Guo , Bob P H Engelen , Irene M G M Hemel , Irenaeus F M de Coo , Maaike Vreeburg , Suzanne C E H Sallevelt , Debby M E I Hellebrekers , Ed H Jacobs , Farah Sadeghi-Niaraki , Florence H J van Tienen , Hubert J M Smeets , Mike Gerards

Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.

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

Avec: Sophie L V M Stroeks , Debby M E I Hellebrekers , Godelieve R F Claes , Upasana Tayal , Ingrid P C Krapels , Els K Vanhoutte , Arthur van den Wijngaard , Michiel T H M Henkens , James S Ware , Stephane R B Heymans , Han G Brunner , Job A J Verdonschot

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.

Clinical neurology and neurosurgery

Avec: R J de Vries , B Jaeger , D M E I Hellebrekers , L Reneman , C Verhamme , H J M Smeets , M C van Maarle , M de Visser , F E Bleeker

[Couples with risk of a child with a mitochondrial disease: wat are the reproductive options?]

Nederlands tijdschrift voor geneeskunde

Avec: Debby M E I Hellebrekers , Christine E M de Die-Smulders , Mirian C H Janssen

Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI.

Radiology. Cardiothoracic imaging

Avec: Stephan A C Schoonvelde , Claudine W B Ruijmbeek , Judith M A Verhagen , Debby M E I Hellebrekers , Marcel J M Kofflard , Michelle Michels , Alexander Hirsch

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

Avec: Thomas A Bos , Sebastiaan R D Piers , Marja W Wessels , Arjan C Houweling , Regina Bökenkamp , Marianne Bootsma , Laurens P Bosman , Reinder Evertz , Debby M E I Hellebrekers , Yvonne M Hoedemaekers , Jeroen Knijnenburg , Ronald Lekanne Deprez , Anneke M van Mil , Anneline S J M Te Riele , Marjon A van Slegtenhorst , Arthur A M Wilde , Sing-Chien Yap , Dennis Dooijes , Tamara T Koopmann , J Peter van Tintelen , Daniela Q C M Barge-Schaapveld , Auteur inconnu

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.

European journal of human genetics : EJHG

Avec: Isis B T Joosten , Debby M E I Hellebrekers , Bianca T A de Greef , Hubert J M Smeets , Christine E M de Die-Smulders , Catharina G Faber , Monique M Gerrits

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Neuromuscular disorders : NMD

Avec: Debby M E I Hellebrekers , Emma L Blakely , Alexandra T M Hendrickx , Steven A Hardy , Sila Hopton , Gavin Falkous , Irenaeus F M de Coo , Hubert J M Smeets , Nadine M E van der Beek , Robert W Taylor

DTYMK is essential for genome integrity and neuronal survival.

Acta neuropathologica

Avec: Jo M Vanoevelen , Jörgen Bierau , Janine C Grashorn , Ellen Lambrichs , Erik-Jan Kamsteeg , Levinus A Bok , Ron A Wevers , Marjo S van der Knaap , Marianna Bugiani , Junmei Hu Frisk , Rita Colnaghi , Mark O'Driscoll , Debby M E I Hellebrekers , Richard Rodenburg , Carlos R Ferreira , Han G Brunner , Arthur van den Wijngaard , Ghada M H Abdel-Salam , Liya Wang , Constance T R M Stumpel

Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.

Circulation. Genomic and precision medicine

Avec: Sophie L V M Stroeks , Ida G Lunde , Debby M E I Hellebrekers , Godelieve R F Claes , Hiroko Wakimoto , Joshua Gorham , Ingrid P C Krapels , Els K Vanhoutte , Arthur van den Wijngaard , Michiel T H M Henkens , Anne G Raafs , Maurits A Sikking , Jos L V Broers , Miranda Nabben , Elizabeth A V Jones , Stephane R B Heymans , Han G Brunner , Job A J Verdonschot

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Human mutation

Avec: Job A J Verdonschot , Els K Vanhoutte , Godelieve R F Claes , Apollonia T J M Helderman-van den Enden , Janneke G J Hoeijmakers , Debby M E I Hellebrekers , Amber de Haan , Imke Christiaans , Ronald H Lekanne Deprez , Hanne M Boen , Emeline M van Craenenbroeck , Bart L Loeys , Yvonne M Hoedemaekers , Carlo Marcelis , Marlies Kempers , Esther Brusse , Jaap I van Waning , Annette F Baas , Dennis Dooijes , Folkert W Asselbergs , Daniela Q C M Barge-Schaapveld , Pieter Koopman , Arthur van den Wijngaard , Stephane R B Heymans , Ingrid P C Krapels , Han G Brunner

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.

Neuromuscular disorders : NMD

Avec: Le Guo , Periyasamy Govindaraj , Mariëlle Kievit , Irenaeus F M de Coo , Mike Gerards , Debby M E I Hellebrekers , Alphons P M Stassen , Narayanappa Gayathri , Arun B Taly , Bindu Parayil Sankaran , Hubert J M Smeets

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Circulation. Genomic and precision medicine

Avec: Job A J Verdonschot , Debby M E I Hellebrekers , Vanessa P M van Empel , Malou Heijligers , Sonja de Munnik , Edith Coonen , Jos C M F Dreesen , Arthur van den Wijngaard , Han G Brunner , Masoud Zamani Esteki , Stephane R B Heymans , Christine E M de Die-Smulders , Aimée D C Paulussen

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Nature communications

Avec: Anouk E J Janssen , Rebekka M Koeck , Rick Essers , Ping Cao , Wanwisa van Dijk , Marion Drüsedau , Jeroen Meekels , Burcu Yaldiz , Maartje van de Vorst , Bart de Koning , Debby M E I Hellebrekers , Servi J C Stevens , Su Ming Sun , Malou Heijligers , Sonja A de Munnik , Chris M J van Uum , Jelle Achten , Lars Hamers , Marjan Naghdi , Lisenka E L M Vissers , Ron J T van Golde , Guido de Wert , Jos C F M Dreesen , Christine de Die-Smulders , Edith Coonen , Han G Brunner , Arthur van den Wijngaard , Aimee D C Paulussen , Masoud Zamani Esteki

Réseau de co-auteurs

Arthur van den Wijngaard 7 collaborations

Han G Brunner 7 collaborations

Stephane R B Heymans 5 collaborations

Job A J Verdonschot 5 collaborations

Godelieve R F Claes 4 collaborations

Ingrid P C Krapels 4 collaborations

Els K Vanhoutte 4 collaborations

Hubert J M Smeets 4 collaborations

Sophie L V M Stroeks 3 collaborations

Michiel T H M Henkens 3 collaborations

Irenaeus F M de Coo 3 collaborations

Christine E M de Die-Smulders 3 collaborations

Maurits A Sikking 2 collaborations

Le Guo 2 collaborations

Mike Gerards 2 collaborations

Yvonne M Hoedemaekers 2 collaborations

Dennis Dooijes 2 collaborations

Daniela Q C M Barge-Schaapveld 2 collaborations

Malou Heijligers 2 collaborations

Edith Coonen 2 collaborations

Masoud Zamani Esteki 2 collaborations

Fernando Dominguez 1 collaboration

Marco Merlo 1 collaboration

Esther Gonzalez-Lopez 1 collaboration

Matteo Dal Ferro 1 collaboration

Juan Pablo Ochoa 1 collaboration

Francesco Venturelli 1 collaboration

Max F G H M Venner 1 collaboration

Pieter van Paassen 1 collaboration

Rick van Leeuwen 1 collaboration

Myrurgia Abdul Hamid 1 collaboration

Xiaofei Li 1 collaboration

Gianfranco Sinagra 1 collaboration

Pablo Garcia-Pavia 1 collaboration

Maria Eleftheriadou 1 collaboration

Evita Medici-van den Herik 1 collaboration

Kyra Stuurman 1 collaboration

Yolande van Bever 1 collaboration

Marjon van Slegtenhorst 1 collaboration

George Ruijter 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Bob P H Engelen 1 collaboration

Irene M G M Hemel 1 collaboration

Maaike Vreeburg 1 collaboration

Suzanne C E H Sallevelt 1 collaboration

Ed H Jacobs 1 collaboration

Farah Sadeghi-Niaraki 1 collaboration

Florence H J van Tienen 1 collaboration

Upasana Tayal 1 collaboration

James S Ware 1 collaboration

R J de Vries 1 collaboration

B Jaeger 1 collaboration

D M E I Hellebrekers 1 collaboration

L Reneman 1 collaboration

C Verhamme 1 collaboration

H J M Smeets 1 collaboration

M C van Maarle 1 collaboration

M de Visser 1 collaboration

F E Bleeker 1 collaboration

Mirian C H Janssen 1 collaboration

Stephan A C Schoonvelde 1 collaboration

Claudine W B Ruijmbeek 1 collaboration

Judith M A Verhagen 1 collaboration

Marcel J M Kofflard 1 collaboration

Michelle Michels 1 collaboration

Alexander Hirsch 1 collaboration

Thomas A Bos 1 collaboration

Sebastiaan R D Piers 1 collaboration

Marja W Wessels 1 collaboration

Arjan C Houweling 1 collaboration

Regina Bökenkamp 1 collaboration

Marianne Bootsma 1 collaboration

Laurens P Bosman 1 collaboration

Reinder Evertz 1 collaboration

Jeroen Knijnenburg 1 collaboration

Ronald Lekanne Deprez 1 collaboration

Anneke M van Mil 1 collaboration

Anneline S J M Te Riele 1 collaboration

Marjon A van Slegtenhorst 1 collaboration

Arthur A M Wilde 1 collaboration

Sing-Chien Yap 1 collaboration

Tamara T Koopmann 1 collaboration

J Peter van Tintelen 1 collaboration

None None 1 collaboration

Isis B T Joosten 1 collaboration

Bianca T A de Greef 1 collaboration

Catharina G Faber 1 collaboration

Monique M Gerrits 1 collaboration

Emma L Blakely 1 collaboration

Alexandra T M Hendrickx 1 collaboration

Steven A Hardy 1 collaboration

Sila Hopton 1 collaboration

Gavin Falkous 1 collaboration

Nadine M E van der Beek 1 collaboration

Robert W Taylor 1 collaboration

Jo M Vanoevelen 1 collaboration

Jörgen Bierau 1 collaboration

Janine C Grashorn 1 collaboration

Ellen Lambrichs 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Levinus A Bok 1 collaboration

Ron A Wevers 1 collaboration

Marjo S van der Knaap 1 collaboration

Marianna Bugiani 1 collaboration

Junmei Hu Frisk 1 collaboration

Rita Colnaghi 1 collaboration

Mark O'Driscoll 1 collaboration

Richard Rodenburg 1 collaboration

Carlos R Ferreira 1 collaboration

Ghada M H Abdel-Salam 1 collaboration

Liya Wang 1 collaboration

Constance T R M Stumpel 1 collaboration

Ida G Lunde 1 collaboration

Hiroko Wakimoto 1 collaboration

Joshua Gorham 1 collaboration

Anne G Raafs 1 collaboration

Jos L V Broers 1 collaboration

Miranda Nabben 1 collaboration

Elizabeth A V Jones 1 collaboration

Apollonia T J M Helderman-van den Enden 1 collaboration

Janneke G J Hoeijmakers 1 collaboration

Amber de Haan 1 collaboration

Imke Christiaans 1 collaboration

Ronald H Lekanne Deprez 1 collaboration

Hanne M Boen 1 collaboration

Emeline M van Craenenbroeck 1 collaboration

Bart L Loeys 1 collaboration

Carlo Marcelis 1 collaboration

Marlies Kempers 1 collaboration

Esther Brusse 1 collaboration

Jaap I van Waning 1 collaboration

Annette F Baas 1 collaboration

Folkert W Asselbergs 1 collaboration

Pieter Koopman 1 collaboration

Periyasamy Govindaraj 1 collaboration

Mariëlle Kievit 1 collaboration

Alphons P M Stassen 1 collaboration

Narayanappa Gayathri 1 collaboration

Arun B Taly 1 collaboration

Bindu Parayil Sankaran 1 collaboration

Vanessa P M van Empel 1 collaboration

Sonja de Munnik 1 collaboration

Jos C M F Dreesen 1 collaboration

Aimée D C Paulussen 1 collaboration

Anouk E J Janssen 1 collaboration

Rebekka M Koeck 1 collaboration

Rick Essers 1 collaboration

Ping Cao 1 collaboration

Wanwisa van Dijk 1 collaboration

Marion Drüsedau 1 collaboration

Jeroen Meekels 1 collaboration

Burcu Yaldiz 1 collaboration

Maartje van de Vorst 1 collaboration

Bart de Koning 1 collaboration

Servi J C Stevens 1 collaboration

Su Ming Sun 1 collaboration

Sonja A de Munnik 1 collaboration

Chris M J van Uum 1 collaboration

Jelle Achten 1 collaboration

Lars Hamers 1 collaboration

Marjan Naghdi 1 collaboration

Lisenka E L M Vissers 1 collaboration

Ron J T van Golde 1 collaboration

Guido de Wert 1 collaboration

Jos C F M Dreesen 1 collaboration

Christine de Die-Smulders 1 collaboration

Aimee D C Paulussen 1 collaboration