Raissa Relator

Affiliations
  • Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.

Publications (30)

Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses.

The Journal of clinical endocrinology and metabolism
Avec: Jonna M E Männistö , Jasmin J Hopkins , Thomas I Hewat , Fatima Nasser , Joseph Burrage , Antonia Dastamani , Alice Mirante , Nuala Murphy , Jessica Rzasa , Jennifer Kerkhof , Matthew B Johnson , Thomas W Laver , Luke Weymouth , Jayne A L Houghton , Matthew N Wakeling , Bekim Sadikovic , Emma L Dempster , Sarah E Flanagan

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Human mutation
Avec: Michael A Levy , Haley McConkey , Erinija Pranckeviciene , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Marco Ferilli , Robin S Fletcher , Florian Cherick , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie R Pallares , Maria Piccione , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella M Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce B Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , Dominique Campion , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Delphine Heron , Thomas Husson , Kristin D Kernohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Marie Vincent , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

European journal of human genetics : EJHG
Avec: Stefano Giuseppe Caraffi , Liselot van der Laan , Kathleen Rooney , Slavica Trajkova , Roberta Zuntini , Sadegheh Haghshenas , Michael A Levy , Chiara Baldo , Giorgia Mandrile , Carolyn Lauzon , Duccio Maria Cordelli , Ivan Ivanovski , Anna Fetta , Elena Sukarova , Alfredo Brusco , Lisa Pavinato , Verdiana Pullano , Marcella Zollino , Haley McConkey , Marco Tartaglia , Giovanni Battista Ferrero , Bekim Sadikovic , Livia Garavelli

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

HGG advances
Avec: Liselot van der Laan , Peter Lauffer , Kathleen Rooney , Ananília Silva , Sadegheh Haghshenas , Michael A Levy , Slavica Trajkova , Sylvia A Huisman , Emilia K Bijlsma , Tjitske Kleefstra , Bregje W van Bon , Özlem Baysal , Christiane Zweier , María Palomares-Bralo , Jan Fischer , Katalin Szakszon , Laurence Faivre , Amélie Piton , Simone Mesman , Ron Hochstenbach , Mariet W Elting , Johanna M van Hagen , Astrid S Plomp , Marcel M A M Mannens , Mariëlle Alders , Mieke M van Haelst , Giovanni B Ferrero , Alfredo Brusco , Peter Henneman , David A Sweetser , Bekim Sadikovic , Antonio Vitobello , Leonie A Menke

Episignature Mapping of

International journal of molecular sciences
Avec: Liselot van der Laan , Kathleen Rooney , Mariëlle Alders , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Peter Lauffer , Mio Aerden , Miel Theunis , Eric Legius , Matthew L Tedder , Lisenka E L M Vissers , Saskia Koene , Claudia Ruivenkamp , Mariette J V Hoffer , Dagmar Wieczorek , Nuria C Bramswig , Theresia Herget , Vanesa López González , Fernando Santos-Simarro , Pernille M Tørring , Anne-Sophie Denomme-Pichon , Bertrand Isidor , Boris Keren , Sophie Julia , Elise Schaefer , Christine Francannet , Pierre-Yves Maillard , Mala Misra-Isrie , Hilde Van Esch , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

Translational psychiatry
Avec: Alexander J M Dingemans , Kim M G Truijen , Sam van de Ven , Raphael Bernier , Ernie M H F Bongers , Arjan Bouman , Laura de Graaff-Herder , Evan E Eichler , Erica H Gerkes , Christa M De Geus , Johanna M van Hagen , Philip R Jansen , Jennifer Kerkhof , Anneke J A Kievit , Tjitske Kleefstra , Saskia M Maas , Stella A de Man , Haley McConkey , Wesley G Patterson , Amy T Dobson , Eloise J Prijoles , Bekim Sadikovic , Roger E Stevenson , Connie T R M Stumpel , Malou Heijligers , Kyra E Stuurman , Katharina Löhner , Shimriet Zeidler , Jennifer A Lee , Amanda Lindy , Fanggeng Zou , Matthew L Tedder , Lisenka E L M Vissers , Bert B A de Vries

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

American journal of human genetics
Avec: Elke Bogaert , Aurore Garde , Thierry Gautier , Kathleen Rooney , Yannis Duffourd , Pontus LeBlanc , Emma van Reempts , Frederic Tran Mau-Them , Ingrid M Wentzensen , Kit Sing Au , Kate Richardson , Hope Northrup , Vincent Gatinois , David Geneviève , Raymond J Louie , Michael J Lyons , Lone Walentin Laulund , Charlotte Brasch-Andersen , Trine Maxel Juul , Fatima El It , Nathalie Marle , Patrick Callier , Sadegheh Haghshenas , Haley McConkey , Jennifer Kerkhof , Claudia Cesario , Antonio Novelli , Nicola Brunetti-Pierri , Michele Pinelli , Perrine Pennamen , Sophie Naudion , Marine Legendre , Cécile Courdier , Aurelien Trimouille , Martine Doco Fenzy , Lynn Pais , Alison Yeung , Kimberly Nugent , Elizabeth R Roeder , Tadahiro Mitani , Jennifer E Posey , Daniel Calame , Hagith Yonath , Jill A Rosenfeld , Luciana Musante , Flavio Faletra , Francesca Montanari , Giovanna Sartor , Alessandra Vancini , Marco Seri , Claude Besmond , Karine Poirier , Laurence Hubert , Dimitri Hemelsoet , Arnold Munnich , James R Lupski , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre , Bekim Sadikovic , Jérôme Govin , Bart Dermaut , Antonio Vitobello

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Sabbagh , Sadegheh Haghshenas , Juliette Piard , Chloé Trouvé , Jeanne Amiel , Tania Attié-Bitach , Tugce Balci , Mouna Barat-Houari , Alyce Belonis , Odile Boute , Diana S Brightman , Ange-Line Bruel , Stefano Giuseppe Caraffi , Nicolas Chatron , Corinne Collet , William Dufour , Patrick Edery , Chin-To Fong , Carlo Fusco , Vincent Gatinois , Evan Gouy , Anne-Marie Guerrot , Solveig Heide , Aakash Joshi , Natalya Karp , Boris Keren , Marion Lesieur-Sebellin , Jonathan Levy , Michael A Levy , Claire Lozano , Stanislas Lyonnet , Henri Margot , Pauline Marzin , Haley McConkey , Vincent Michaud , Gaël Nicolas , Mevyn Nizard , Alix Paulet , Francesca Peluso , Vincent Pernin , Laurence Perrin , Christophe Philippe , Chitra Prasad , Madhavi Prasad , Marlène Rio , Sophie Rondeau , Valentin Ruault , Nathalie Ruiz-Pallares , Elodie Sanchez , Debbie Shears , Victoria Mok Siu , Arthur Sorlin , Matthew Tedder , Mylène Tharreau , Frédéric Tran Mau-Them , Liselot van der Laan , Julien Van Gils , Alain Verloes , Sandra Whalen , Marjolaine Willems , Kévin Yauy , Roberta Zuntini , Jennifer Kerkhof , Bekim Sadikovic , David Geneviève

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jennifer Kerkhof , Cassandra Rastin , Michael A Levy , Haley McConkey , Leigh Demain , Elena Dominguez-Garrido , Laura Donker Kaat , Sofia Douzgou Houge , Barbara R DuPont , Timothy Fee , Robin S Fletcher , David Gokhale , Bjørn Ivar Haukanes , Peter Henneman , Sarah Hilton , Benjamin A Hilton , Sarah Jenkinson , Jennifer A Lee , Raymond J Louie , M Mahdi Motazacker , Jessica Rzasa , Roger E Stevenson , Astrid Plomp , Liselot van der Laan , Jasper van der Smagt , Kellie K Walden , Siddharth Banka , Marcel Mannens , Steven A Skinner , Michael J Friez , Christopher Campbell , Matthew L Tedder , Marielle Alders , Bekim Sadikovic

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Flavien Rouxel , Jennifer Kerkhof , Haley McConkey , Michael Levy , Patricia Dias , Mouna Barat-Houari , Nathalie Bednarek , Odile Boute , Nicolas Chatron , Florian Cherik , Andrée Delahaye-Duriez , Martine Doco-Fenzy , Laurence Faivre , Lucas W Gauthier , Delphine Heron , Michael S Hildebrand , Gaëtan Lesca , James Lespinasse , Benoit Mazel , Leonie A Menke , Angela T Morgan , Lucile Pinson , Chloe Quelin , Massimiliano Rossi , Nathalie Ruiz-Pallares , Frederic Tran-Mau-Them , Imke N Van Kessel , Marie Vincent , Mathys Weber , Marjolaine Willems , Gwenael Leguyader , Bekim Sadikovic , David Genevieve

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Karim Karimi , Merel O Mol , Sadegheh Haghshenas , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Alice Brooks , Evelien Zonneveld-Huijssoon , Erica H Gerkes , Matthew L Tedder , Lisenka Vissers , Emanuela Salzano , Maria Piccione , Sebastian Dorin Asaftei , Diana Carli , Alessandro Mussa , Elena Shukarova-Angelovska , Slavica Trajkova , Alfredo Brusco , Giuseppe Merla , Marielle M Alders , Arjan Bouman , Bekim Sadikovic

DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Liselot van der Laan , Karim Karimi , Kathleen Rooney , Peter Lauffer , Haley McConkey , Pilar Caro , Michael A Levy , Pratibha Bhai , Cyril Mignot , Boris Keren , Silvana Briuglia , Andrew K Sobering , Dong Li , Lisenka E L M Vissers , Alexander J M Dingemans , Irene Valenzuela , Eline A Verberne , Mala Misra-Isrie , Petra J G Zwijnenburg , Quinten Waisfisz , Mariëlle Alders , Sebastian Sailer , Christian P Schaaf , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with

Epigenomics
Avec: Niels Vos , Jack Reilly , Mariet W Elting , Philippe M Campeau , David Coman , Zornitza Stark , Tiong Yang Tan , David J Amor , Simran Kaur , Miya StJohn , Angela T Morgan , Benjamin A Kamien , Chirag Patel , Matthew L Tedder , Giuseppe Merla , Paolo Prontera , Marco Castori , Kai Muru , Felicity Collins , John Christodoulou , Janine Smith , Bruria Ben Zeev , Alessandra Murgia , Emanuela Leonardi , Natacha Esber , Antonio Martinez-Monseny , Didac Casas-Alba , Matthew Wallis , Marcel Mannens , Michael A Levy , Marielle Alders , Bekim Sadikovic

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Nature communications
Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Talia J Allan , Miranda Perez-Galey Zalusky , Joy Goffena , Sophia B Gibson , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Mohamed Nadhir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Nicolas Chatron , Leigh Demain , David Genevieve , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Sachin Gupta , Elizabeth A Jones , Monika Weisz-Hubshman , Shamika Ketkar , Hongzheng Dai , Kim C Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG advances
Avec: Michael A Levy , Haley McConkey , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Robin S Fletcher , Florian Cherik , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie Ruiz Pallares , Maria Piccione , Simone Pizzi , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella Maria Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Kristin D Kerrnohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kathleen Rooney , Liselot van der Laan , Slavica Trajkova , Sadegheh Haghshenas , Peter Lauffer , Niels Vos , Michael A Levy , Nicola Brunetti-Pierri , Gaetano Terrone , Cyril Mignot , Boris Keren , Thierry B de Villemeur , Catharina M L Volker-Touw , Nienke Verbeek , Jasper J van der Smagt , Renske Oegema , Alfredo Brusco , Giovanni B Ferrero , Mala Misra-Isrie , Ron Hochstenbach , Mariëlle Alders , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

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

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jet Coenen-van der Spek , Jennifer Kerkhof , Haley McConkey , Michael A Levy , Matthew L Tedder , Raymond J Louie , Robin S Fletcher , Hannah W Moore , Anna Childers , Ellyn R Farrelly , Neena L Champaigne , Michael J Lyons , David B Everman , R Curtis Rogers , Steven A Skinner , Alicia Renck , Dena R Matalon , Shelley K Dills , Berrin Monteleone , Serwet Demirdas , Alexander J M Dingemans , Laura Donker Kaat , Sharon M Kolk , Rolph Pfundt , Patrick Rump , Bekim Sadikovic , Tjitske Kleefstra , Kameryn M Butler

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Research square
Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Sara Timpano , Binnaz Yalcin , Stephan Collins , Alban Ziegler , Emily Pao , Nora Oyama , Elise Brischoux-Boucher , Juliette Piard , Kristin Monaghan , Maria Guillen Sacoto , William Dobyns , Kristen Park , Daniel Fernández-Mayoralas , Alberto Fernández-Jaén , Parul Jayakar , Alfredo Brusco , Vincenzo Antona , Elisa Giorgio , Malin Kvarnung , Bertrand Isidor , Solène Conrad , Benjamin Cogné , Wallid Deb , K E Stuurman , Katalin Sterbova , Noor Smal , Sarah Weckhuysen , Renske Oegema , Micheil Innes , Maeson Latsko , Tawfeg Ben-Omran , Rebecca Yeh , Michael Kruer , Somayeh Bakhtiari , Antigone Papavasiliou , Sébastien Moutton , Sophie Nambot , Sirisak Chanprasert , Sarah Paolucci , Kait Miller , Barbara Burton , Katherine Kim , Emily O'Heir , Zandre Bruwer , Kirsten Donald , Tjitske Kleefstra , Amy Goldstein , Brad Angle , Kelly Bontempo , Peter Miny , Pascal Joset , Florence Demurger , Emma Hobson , Lewis Pang , Lori Carpenter , Dong Li , Dominique Bonneau , Bekim Sadikovic

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

medRxiv : the preprint server for health sciences
Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Miranda Galey , Joy Goffena , Sophia B Gibson , Talia J Allan , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Nahdir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Nicolas Chatron , Leigh Demain , David Genevieve , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Monika Weisz Hubshman , Shamika Ketkar , Hongzheng Dai , Kim Carlyle Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Human genetics
Avec: Niels Vos , Sadegheh Haghshenas , Liselot van der Laan , Perle K M Russel , Kathleen Rooney , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Saskia M Maas , Lisenka E L M Vissers , Bert B A de Vries , Rolph Pfundt , Mariet W Elting , Johanna M van Hagen , Nienke E Verbeek , Marjolijn C J Jongmans , Phillis Lakeman , Lynne Rumping , Danielle G M Bosch , Antonio Vitobello , Christel Thauvin-Robinet , Laurence Faivre , Sophie Nambot , Aurore Garde , Marjolaine Willems , David Genevieve , Gaël Nicolas , Tiffany Busa , Annick Toutain , Marion Gérard , Varoona Bizaoui , Bertrand Isidor , Giuseppe Merla , Maria Accadia , Charles E Schwartz , Katrin Ounap , Mariëtte J V Hoffer , Marjan M Nezarati , Marie-José H van den Boogaard , Matthew L Tedder , Curtis Rogers , Alfredo Brusco , Giovanni B Ferrero , Marta Spodenkiewicz , Richard Sidlow , Alessandro Mussa , Slavica Trajkova , Emma McCann , Henry J Mroczkowski , Sandra Jansen , Laura Donker-Kaat , Floor A M Duijkers , Kyra E Stuurman , Marcel M A M Mannens , Mariëlle Alders , Peter Henneman , Susan M White , Bekim Sadikovic , Mieke M van Haelst

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Camilla Sarli , Liselot van der Laan , Jack Reilly , Slavica Trajkova , Diana Carli , Alfredo Brusco , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Matthew L Tedder , Cindy Skinner , Mariëlle Alders , Peter Henneman , Raoul C M Hennekam , Claudia Ciaccio , Stefano D'Arrigo , Antonio Vitobello , Laurence Faivre , Sacha Weber , Aline Vincent-Devulder , Laurence Perrin , Alexia Bourgois , Toshiyuki Yamamoto , Kay Metcalfe , Marcella Zollino , Usha Kini , Daniela Oliveira , Sergio B Sousa , Denise Williams , Gerarda Cappuccio , Bekim Sadikovic , Nicola Brunetti-Pierri

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sadegheh Haghshenas , Audrey Putoux , Jack Reilly , Michael A Levy , Sourav Ghosh , Jennifer Kerkhof , Haley McConkey , Patrick Edery , Gaetan Lesca , Alicia Besson , Christine Coubes , Marjolaine Willems , Nathalie Ruiz-Pallares , Mouna Barat-Houari , Eduardo F Tizzano , Irene Valenzuela , Quentin Sabbagh , Jill Clayton-Smith , Adam Jackson , James O'Sullivan , Rebecca Bromley , Siddharth Banka , David Genevieve , Bekim Sadikovic

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Clinical genetics
Avec: Dmitrijs Rots , Kathleen Rooney , Jennifer Kerkhof , Haley McConkey , Rolph Pfundt , Carlo Marcelis , Marjolein H Willemsen , Johanna M van Hagen , Petra Zwijnenburg , Marielle Alders , Katrin Õunap , Tiia Reimand , Olga Fjodorova , Siren Berland , Eva Benedicte Liahjell , Ognjen Bojovic , Marjolein Kriek , Claudia Ruivenkamp , Maria Teresa Bonati , Han G Brunner , Lisenka E L M Vissers , Bekim Sadikovic , Tjitske Kleefstra

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Richard H van Jaarsveld , Jack Reilly , Marie-Claire Cornips , Michael A Hadders , Emanuele Agolini , Priyanka Ahimaz , Kwame Anyane-Yeboa , Severine Audebert Bellanger , Ellen van Binsbergen , Marie-Jose van den Boogaard , Elise Brischoux-Boucher , Raymond C Caylor , Andrea Ciolfi , Ton A J van Essen , Paolo Fontana , Saskia Hopman , Maria Iascone , Margaret M Javier , Erik-Jan Kamsteeg , Jennifer Kerkhof , Jun Kido , Hyung-Goo Kim , Tjitske Kleefstra , Fortunato Lonardo , Abbe Lai , Dorit Lev , Michael A Levy , M E Suzanne Lewis , Angie Lichty , Marcel M A M Mannens , Naomichi Matsumoto , Idit Maya , Haley McConkey , Andre Megarbane , Vincent Michaud , Evelina Miele , Marcello Niceta , Antonio Novelli , Roberta Onesimo , Rolph Pfundt , Bernt Popp , Eloise Prijoles , Sylvia Redon , Dmitrijs Rots , Karen Rouault , Ken Saida , Jolanda Schieving , Marco Tartaglia , Romano Tenconi , Kevin Uguen , Nienke Verbeek , Christopher A Walsh , Keren Yosovich , Christopher J Yuskaitis , Giuseppe Zampino , Bekim Sadikovic , Mariëlle Alders , Renske Oegema

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.

European journal of human genetics : EJHG
Avec: Sadegheh Haghshenas , Aidin Foroutan , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Cindy D Skinner , Raymond C Caylor , Matthew L Tedder , Roger E Stevenson , Bekim Sadikovic , Charles E Schwartz

Identification of a robust DNA methylation signature for Fanconi anemia.

American journal of human genetics
Avec: Daria Pagliara , Andrea Ciolfi , Lucia Pedace , Sadegheh Haghshenas , Marco Ferilli , Michael A Levy , Evelina Miele , Claudia Nardini , Camilla Cappelletti , Angela Pitisci , Rita De Vito , Simone Pizzi , Jennifer Kerkhof , Haley McConkey , Francesca Nazio , Sarina G Kant , Maddalena Di Donato , Emanuele Agolini , Marta Matraxia , Barbara Pasini , Alessandra Pelle , Tiziana Galluccio , Antonio Novelli , Tahsin Stefan Barakat , Marco Andreani , Francesca Rossi , Cristina Mecucci , Anna Savoia , Bekim Sadikovic , Franco Locatelli , Marco Tartaglia

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

American journal of human genetics
Avec: Remzi Karayol , Maria Carla Borroto , Sadegheh Haghshenas , Anoja Namasivayam , Jack Reilly , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Maria Shvedunova , Andrea K Petersen , Kari Magnussen , Christiane Zweier , Georgia Vasileiou , André Reis , Juliann M Savatt , Meghan R Mulligan , Louise S Bicknell , Gemma Poke , Aya Abu-El-Haija , Jessica Duis , Vickie Hannig , Siddharth Srivastava , Elizabeth Barkoudah , Natalie S Hauser , Myrthe van den Born , Uri Hamiel , Noa Henig , Hagit Baris Feldman , Shane McKee , Ingrid P C Krapels , Yunping Lei , Albena Todorova , Ralitsa Yordanova , Slavena Atemin , Mihael Rogac , Vivienne McConnell , Anna Chassevent , Kristin W Barañano , Vandana Shashi , Jennifer A Sullivan , Angela Peron , Maria Iascone , Maria P Canevini , Jennifer Friedman , Iris A Reyes , Janell Kierstein , Joseph J Shen , Faria N Ahmed , Xiao Mao , Berta Almoguera , Fiona Blanco-Kelly , Konrad Platzer , Ariana-Berenike Treu , Juliette Quilichini , Alexia Bourgois , Nicolas Chatron , Louis Januel , Christelle Rougeot , Deanna Alexis Carere , Kristin G Monaghan , Justine Rousseau , Kenneth A Myers , Bekim Sadikovic , Asifa Akhtar , Philippe M Campeau

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

American journal of human genetics
Avec: Sadegheh Haghshenas , Karim Karimi , Roger E Stevenson , Michael A Levy , Jennifer Kerkhof , Jessica Rzasa , Haley McConkey , Carolyn Lauzon-Young , Tugce B Balci , Alexandre M White-Brown , Melissa T Carter , Julie Richer , Christine M Armour , Sarah L Sawyer , Priya T Bhola , Matthew L Tedder , Cindy D Skinner , Iris A L M van Rooij , Romy van de Putte , Ivo de Blaauw , Rebekka M Koeck , Alexander Hoischen , Han Brunner , Masoud Zamani Esteki , Anna Pelet , Stanislas Lyonnet , Jeanne Amiel , Kym M Boycott , Bekim Sadikovic

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

European journal of human genetics : EJHG
Avec: Karim Karimi , Denisa Weis , Ingvild Aukrust , Tzung-Chien Hsieh , Marie Horackova , Julie Paulsen , Roberto Mendoza Londono , Lucie Dupuis , Megan Dickson , Hellen Lesman , Tracy Lau , David Murphy , Khalid Hama Salih , Bassam M S Al-Musawi , Ruqayah G Y Al-Obaidi , Malgorzata Rydzanicz , Mateus Biela , Mafalda Saraiva Santos , Abdulrahman Aldeeri , Hanna T Gazda , Lynn Pais , Shirlee Shril , Henrik Døllner , Sandip Bartakke , Franco Laccone , Andrea Soltysova , Thomas Kitzler , Neveen A Soliman , Michael A Levy , Jennifer Kerkhof , Jessica Rzasa , Henry Houlden , Gabriela V Pilshofer , Tilman Jobst-Schwan , Friedhelm Hildebrandt , Sergio B Sousa , Reza Maroofian , Timothy W Yu , Peter Krawitz , Bekim Sadikovic , Sofia Douzgou Houge

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Sébastien Moutton , Alexander J M Dingemans , Denisa Weis , Michael A Levy , Kym M Boycott , Claudia Arberas , Margherita Baldassarri , Claire Beneteau , Alfredo Brusco , Charles Coutton , Tabib Dabir , Maria L Dentici , Koenraad Devriendt , Laurence Faivre , Mieke M van Haelst , Khadije Jizi , Marlies J Kempers , Jennifer Kerkhof , Mira Kharbanda , Katherine Lachlan , Nathalie Marle , Haley McConkey , Maria A Mencarelli , David Mowat , Marcello Niceta , Claire Nicolas , Antonio Novelli , Valeria Orlando , Olivier Pichon , Julia Rankin , Fabienne G Ropers , Jill A Rosenfeld , Rani Sachdev , Sarah A Sandaradura , Elena Shukarova-Angelovska , Duco Steenbeek , Marco Tartaglia , Matthew A Tedder , Slavica Trajkova , Norbert Winer , Jeremy Woods , Bert B A de Vries , Bekim Sadikovic , Marielle Alders , Gijs W E Santen

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Bekim Sadikovic 30 collaborations
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