Bekim Sadikovic

Affiliations

Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada.
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada.
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.

ORCID: https://orcid.org/0000-0001-6363-0016

Publications (97)

OCTANE (Ontario-wide Cancer Targeted Nucleic Acid Evaluation): a platform for intraprovincial, national, and international clinical data-sharing.

Current oncology (Toronto, Ont.)

Avec: E R Malone , R R Saleh , C Yu , L Ahmed , T Pugh , J Torchia , J Bartlett , C Virtanen , S J Hotte , J Hilton , S Welch , A Robinson , E McCready , B Lo , B Sadikovic , H Feilotter , T P Hanna , S Kamel-Reid , T L Stockley , L L Siu , P L Bedard

Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely?

International journal of laboratory hematology

Avec: Eri Kawata , Benjamin D Hedley , Benjamin Chin-Yee , Anargyros Xenocostas , Alejandro Lazo-Langner , Cyrus C Hsia , Kang Howson-Jan , Ping Yang , Michael A Levy , Stephanie Santos , Pratibha Bhai , Christopher Howlett , Hanxin Lin , Mike Kadour , Bekim Sadikovic , Ian Chin-Yee

A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene.

Research and practice in thrombosis and haemostasis

Avec: Eman M Mansory , Pratibha Bhai , Alan Stuart , Lori Laudenbach , Bekim Sadikovic , Alejandro Lazo-Langner

Incidental findings from cancer next generation sequencing panels.

NPJ genomic medicine

Avec: Nika Maani , Karen Panabaker , Jeanna M McCuaig , Kathleen Buckley , Kara Semotiuk , Kirsten M Farncombe , Peter Ainsworth , Seema Panchal , Bekim Sadikovic , Susan Randall Armel , Hanxin Lin , Raymond H Kim

DNA methylation episignature in Gabriele-de Vries syndrome.

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

Avec: Florian Cherik , Jack Reilly , Jennifer Kerkhof , Michael Levy , Haley McConkey , Mouna Barat-Houari , Kameryn M Butler , Christine Coubes , Jennifer A Lee , Gwenael Le Guyader , Raymond J Louie , Wesley G Patterson , Matthew L Tedder , Mads Bak , Trine Bjørg Hammer , William Craigen , Florence Démurger , Christèle Dubourg , Mélanie Fradin , Rachel Franciskovich , Eirik Frengen , Jennifer Friedman , Nathalie Ruiz Palares , Maria Iascone , Doriana Misceo , Pauline Monin , Sylvie Odent , Christophe Philippe , Flavien Rouxel , Veronica Saletti , Petter Strømme , Perla Cassayre Thulin , Bekim Sadikovic , David Genevieve

Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies.

Molecular diagnosis & therapy

Avec: Pratibha Bhai , Cyrus C Hsia , Laila C Schenkel , Benjamin D Hedley , Michael A Levy , Jennifer Kerkhof , Stephanie Santos , Alan Stuart , Hanxin Lin , Robert Broadbent , Shirley Nan , Ping Yang , Anargyros Xenocostas , Ian Chin-Yee , Bekim Sadikovic

Episignature Mapping of

International journal of molecular sciences

Avec: Liselot van der Laan , Kathleen Rooney , Mariëlle Alders , Raissa Relator , 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

DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.

International journal of molecular sciences

Avec: Kathleen Rooney , Bekim Sadikovic

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 , Raissa Relator , 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

Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.

Genes

Avec: Emily A Goebel , Jennifer Kerkhof , Oleksandra Dzyubak , C Meg McLachlin , Jacob McGee , Bekim Sadikovic

The Impact of Artificial Intelligence on Health Equity in Oncology: Scoping Review.

Journal of medical Internet research

Avec: Paul Istasy , Wen Shen Lee , Alla Iansavichene , Ross Upshur , Bishal Gyawali , Jacquelyn Burkell , Bekim Sadikovic , Alejandro Lazo-Langner , Benjamin Chin-Yee

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 , Raissa Relator , 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 , Raissa Relator , 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

Clinical Features and Long-Term Outcomes of a Pan-Canadian Cohort of Adolescents and Young Adults with Myeloproliferative Neoplasms: A Canadian MPN Group Study.

Leukemia

Avec: James T England , Natasha Szuber , Shireen Sirhan , Tom Dunne , Sonia Cerquozzi , Madeleine Hill , Pierre J A Villeneuve , Jenny M Ho , Bekim Sadikovic , Pratibha Bhai , Nupur Krishnan , Sebastian Dowhanik , Chris Hillis , Jose-Mario Capo-Chichi , Hubert Tsui , Verna Cheung , Karine Gauthier , Hassan Sibai , Marta B Davidson , Aniket Bankar , Rouslan Kotchetkov , Vikas Gupta , Dawn Maze

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

HGG advances

Avec: Morad Ansari , Kamli N W Faour , Akiko Shimamura , Graeme Grimes , Emeline M Kao , Erica R Denhoff , Ana Blatnik , Daniel Ben-Isvy , Lily Wang , Benjamin M Helm , Helen Firth , Amy M Breman , Emilia K Bijlsma , Aiko Iwata-Otsubo , Thomy J L de Ravel , Vincent Fusaro , Alan Fryer , Keith Nykamp , Lara G Stühn , Tobias B Haack , G Christoph Korenke , Panayiotis Constantinou , Kinga M Bujakowska , Karen J Low , Emily Place , Jennifer Humberson , Melanie P Napier , Jessica Hoffman , Jane Juusola , Matthew A Deardorff , Wanqing Shao , Shira Rockowitz , Ian Krantz , Maninder Kaur , Sarah Raible , Victoria Dortenzio , Sabine Kliesch , Moriel Singer-Berk , Emily Groopman , Stephanie DiTroia , Sonia Ballal , Siddharth Srivastava , Kathrin Rothfelder , Saskia Biskup , Jessica Rzasa , Jennifer Kerkhof , Haley McConkey , Bekim Sadikovic , Sarah Hilton , Siddharth Banka , Frank Tüttelmann , Donald Conrad , Anne O'Donnell-Luria , Michael E Talkowski , David R FitzPatrick , Philip M Boone

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Avec: Kerith-Rae Dias , Rupendra Shrestha , Deborah Schofield , Carey-Anne Evans , Emily O'Heir , Ying Zhu , Futao Zhang , Krystle Standen , Ben Weisburd , Sarah L Stenton , Alba Sanchis-Juan , Harrison Brand , Michael E Talkowski , Alan Ma , Sondy Ghedia , Meredith Wilson , Sarah A Sandaradura , Janine Smith , Benjamin Kamien , Anne Turner , Madhura Bakshi , Lesley C Adès , David Mowat , Matthew Regan , George McGillivray , Ravi Savarirayan , Susan M White , Tiong Yang Tan , Zornitza Stark , Natasha J Brown , Luis A Pérez-Jurado , Emma Krzesinski , Matthew F Hunter , Lauren Akesson , Andrew Paul Fennell , Alison Yeung , Tiffany Boughtwood , Lisa J Ewans , Jennifer Kerkhof , Christopher Lucas , Louise Carey , Hugh French , Melissa Rapadas , Igor Stevanovski , Ira W Deveson , Corrina Cliffe , George Elakis , Edwin P Kirk , Tracy Dudding-Byth , Janice Fletcher , Rebecca Walsh , Mark A Corbett , Thessa Kroes , Jozef Gecz , Cliff Meldrum , Simon Cliffe , Meg Wall , Sebastian Lunke , Kathryn North , David J Amor , Michael Field , Bekim Sadikovic , Michael F Buckley , Anne O'Donnell-Luria , Tony Roscioli

Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or

Current oncology (Toronto, Ont.)

Avec: Shamim Mortuza , Benjamin Chin-Yee , Tyler E James , Ian H Chin-Yee , Benjamin D Hedley , Jenny M Ho , Lalit Saini , Alejandro Lazo-Langner , Laila Schenkel , Pratibha Bhai , Bekim Sadikovic , Jonathan Keow , Nikhil Sangle , Cyrus C Hsia

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 , Raissa Relator , 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

Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.

Frontiers in genetics

Avec: Nadia Bouhamdani , Haley McConkey , Amélie Leblanc , Bekim Sadikovic , Mouna Ben Amor

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

American journal of human genetics

Avec: María Del Rocío Pérez Baca , Eva Z Jacobs , Lies Vantomme , Pontus Leblanc , Elke Bogaert , Annelies Dheedene , Laurenz De Cock , Sadegheh Haghshenas , Aidin Foroutan , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Chun-An Chen , Nurit Assia Batzir , Xia Wang , María Palomares , Marieke Carels , Auteur inconnu , Bart Dermaut , Bekim Sadikovic , Björn Menten , Bo Yuan , Sarah Vergult , Bert Callewaert

Evaluation of HER2 immunohistochemistry expression in non-standard solid tumors from a Single-Institution Prospective Cohort.

Exploration of targeted anti-tumor therapy

Avec: Saurav Verma , Amanda Chapman , Lee-Anne Pickard , Danielle Porplycia , Haley McConkey , Patricia Jarosz , James Sinfield , Carolyn Lauzon-Young , Matthew J Cecchini , Christopher Howlett , Natalie Grindrod , Bekim Sadikovic , Stephen A Welch , Daniel Breadner

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.

Genome biology

Avec: Binsheng Gong , Dan Li , Rebecca Kusko , Natalia Novoradovskaya , Yifan Zhang , Shangzi Wang , Carlos Pabón-Peña , Zhihong Zhang , Kevin Lai , Wanshi Cai , Jennifer S LoCoco , Eric Lader , Todd A Richmond , Vinay K Mittal , Liang-Chun Liu , Donald J Johann , James C Willey , Pierre R Bushel , Ying Yu , Chang Xu , Guangchun Chen , Daniel Burgess , Simon Cawley , Kristina Giorda , Nathan Haseley , Fujun Qiu , Katherine Wilkins , Hanane Arib , Claire Attwooll , Kevin Babson , Longlong Bao , Wenjun Bao , Anne Bergstrom Lucas , Hunter Best , Ambica Bhandari , Halil Bisgin , James Blackburn , Thomas M Blomquist , Lisa Boardman , Blake Burgher , Daniel J Butler , Chia-Jung Chang , Alka Chaubey , Tao Chen , Marco Chierici , Christopher R Chin , Devin Close , Jeffrey Conroy , Jessica Cooley Coleman , Daniel J Craig , Erin Crawford , Angela Del Pozo , Ira W Deveson , Daniel Duncan , Agda Karina Eterovic , Xiaohui Fan , Jonathan Foox , Cesare Furlanello , Abhisek Ghosal , Sean Glenn , Meijian Guan , Christine Haag , Xinyi Hang , Scott Happe , Brittany Hennigan , Jennifer Hipp , Huixiao Hong , Kyle Horvath , Jianhong Hu , Li-Yuan Hung , Mirna Jarosz , Jennifer Kerkhof , Benjamin Kipp , David Philip Kreil , Paweł Łabaj , Pablo Lapunzina , Peng Li , Quan-Zhen Li , Weihua Li , Zhiguang Li , Yu Liang , Shaoqing Liu , Zhichao Liu , Charles Ma , Narasimha Marella , Rubén Martín-Arenas , Dalila B Megherbi , Qingchang Meng , Piotr A Mieczkowski , Tom Morrison , Donna Muzny , Baitang Ning , Barbara L Parsons , Cloud P Paweletz , Mehdi Pirooznia , Wubin Qu , Amelia Raymond , Paul Rindler , Rebecca Ringler , Bekim Sadikovic , Andreas Scherer , Egbert Schulze , Robert Sebra , Rita Shaknovich , Qiang Shi , Tieliu Shi , Juan Carlos Silla-Castro , Melissa Smith , Mario Solís López , Ping Song , Daniel Stetson , Maya Strahl , Alan Stuart , Julianna Supplee , Philippe Szankasi , Haowen Tan , Lin-Ya Tang , Yonghui Tao , Shraddha Thakkar , Danielle Thierry-Mieg , Jean Thierry-Mieg , Venkat J Thodima , David Thomas , Boris Tichý , Nikola Tom , Elena Vallespin Garcia , Suman Verma , Kimbley Walker , Charles Wang , Junwen Wang , Yexun Wang , Zhining Wen , Valtteri Wirta , Leihong Wu , Chunlin Xiao , Wenzhong Xiao , Shibei Xu , Mary Yang , Jianming Ying , Shun H Yip , Guangliang Zhang , Sa Zhang , Meiru Zhao , Yuanting Zheng , Xiaoyan Zhou , Christopher E Mason , Timothy Mercer , Weida Tong , Leming Shi , Wendell Jones , Joshua Xu

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Clinical epigenetics

Avec: L C Schenkel , E Aref-Eshghi , K Rooney , J Kerkhof , M A Levy , H McConkey , R C Rogers , K Phelan , S M Sarasua , L Jain , R Pauly , L Boccuto , B DuPont , G Cappuccio , N Brunetti-Pierri , C E Schwartz , B Sadikovic

Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.

European journal of haematology

Avec: Michael A Levy , Stephanie Santos , Jennifer Kerkhof , Alan Stuart , Erfan Aref-Eshghi , Fen Guo , Ben Hedley , Henry Wong , Michael Rauh , Harriet Feilotter , Philip Berardi , Laura Semenuk , Ping Yang , Joan Knoll , Peter Ainsworth , Catherine Meg McLachlin , Ian Chin-Yee , Michael Kovacs , Uday Deotare , Alejandro Lazo-Langner , Cyrus Hsia , Mike Keeney , Anargyros Xenocostas , Christopher Howlett , Hanxin Lin , Bekim Sadikovic

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

American journal of human genetics

Avec: Erfan Aref-Eshghi , Eric G Bend , Samantha Colaiacovo , Michelle Caudle , Rana Chakrabarti , Melanie Napier , Lauren Brick , Lauren Brady , Deanna Alexis Carere , Michael A Levy , Jennifer Kerkhof , Alan Stuart , Maha Saleh , Arthur L Beaudet , Chumei Li , Maryia Kozenko , Natalya Karp , Chitra Prasad , Victoria Mok Siu , Mark A Tarnopolsky , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Ian D Krantz , Matthew A Deardorff , Charles E Schwartz , Bekim Sadikovic

Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Avec: So Lee , Natalya Karp , Eugenio Zapata-Aldana , Bekim Sadikovic , Ping Yang , Tugce B Balci , Asuri N Prasad

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.

Journal of human genetics

Avec: Erfan Aref-Eshghi , Jacob D McGee , Victor P Pedro , Jennifer Kerkhof , Alan Stuart , Peter J Ainsworth , Hanxin Lin , Michael Volodarsky , Catherine Meg McLachlin , Bekim Sadikovic

A Pan-Canadian Validation Study for the Detection of

JTO clinical and research reports

Avec: Shamini Selvarajah , Sophie Plante , Marsha Speevak , Andrea Vaags , Darren Hamelinck , Martin Butcher , Elizabeth McCready , Daria Grafodatskaya , Normand Blais , Danh Tran-Thanh , Xiaoduan Weng , Rami Nassabein , Wenda Greer , Ryan N Walton , Bryan Lo , Doug Demetrick , Stephanie Santos , Bekim Sadikovic , Xiao Zhang , Tong Zhang , Tara Spence , Tracy Stockley , Harriet Feilotter , Philippe Joubert

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics

Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

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 , Raissa Relator , Matthew B Johnson , Thomas W Laver , Luke Weymouth , Jayne A L Houghton , Matthew N Wakeling , Bekim Sadikovic , Emma L Dempster , Sarah E Flanagan

Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Avec: Heather M McDonald , Bekim Sadikovic , Claire A Sheldon , Lulu L C D Bursztyn

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

Human mutation

Avec: Michael A Levy , Raissa Relator , 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

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

HGG advances

Avec: Slavica Trajkova , Jennifer Kerkhof , Matteo Rossi Sebastiano , Lisa Pavinato , Enza Ferrero , Chiara Giovenino , Diana Carli , Eleonora Di Gregorio , Roberta Marinoni , Giorgia Mandrile , Flavia Palermo , Silvia Carestiato , Simona Cardaropoli , Verdiana Pullano , Antonina Rinninella , Elisa Giorgio , Tommaso Pippucci , Paola Dimartino , Jessica Rzasa , Kathleen Rooney , Haley McConkey , Aleksandar Petlichkovski , Barbara Pasini , Elena Sukarova-Angelovska , Christopher M Campbell , Kay Metcalfe , Sarah Jenkinson , Siddharth Banka , Alessandro Mussa , Giovanni Battista Ferrero , Bekim Sadikovic , Alfredo Brusco

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.

Human genetics

Avec: Elisabeth Bosch , Esther Güse , Philipp Kirchner , Andreas Winterpacht , Mona Walther , Marielle Alders , Jennifer Kerkhof , Arif B Ekici , Heinrich Sticht , Bekim Sadikovic , André Reis , Georgia Vasileiou

Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant.

Canadian liver journal

Avec: Paul C Adams , Carolyn Horgan-Bell , Scott Walsh , Bekim Sadikovic

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo

Genes

Avec: Nenad Bukvic , Massimiliano Chetta , Rosanna Bagnulo , Valentina Leotta , Antonino Pantaleo , Orazio Palumbo , Pietro Palumbo , Maria Oro , Maria Rivieccio , Nicola Laforgia , Marta De Rinaldis , Alessandra Rosati , Jennifer Kerkhof , Bekim Sadikovic , Nicoletta Resta

Development of a comprehensive approach to adult hereditary cancer testing in Ontario.

Journal of medical genetics

Avec: Kathleen Anne Bell , Raymond Kim , Melyssa Aronson , Brittany Gillies , Arif Ali Awan , Kathy Chun , Jennifer Hart , Rachel Healey , Linda Kim , Goran Klaric , Karen Panabaker , Peter J B Sabatini , Bekim Sadikovic , Shamini Selvarajah , Amanda C Smith , Tracy L Stockley , Andrea K Vaags , Andrea Eisen , Aaron Pollett , Harriet Feilotter

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Frontiers in oncology

Avec: Pratibha Bhai , Jacob Turowec , Stephanie Santos , Jennifer Kerkhof , LeeAnne Pickard , Aidin Foroutan , Daniel Breadner , Matthew Cecchini , Michael A Levy , Alan Stuart , Stephen Welch , Christopher Howlett , Hanxin Lin , Bekim Sadikovic

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Journal of molecular medicine (Berlin, Germany)

Avec: Dervla M Connaughton , Pratibha Bhai , Paul Isenring , Mohammed Mahdi , Bekim Sadikovic , Laila C Schenkel

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 , Raissa Relator , 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

An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis.

Advances in hematology

Avec: Ala Almanaseer , Benjamin Chin-Yee , Jenny Ho , Alejandro Lazo-Langner , Laila Schenkel , Pratibha Bhai , Bekim Sadikovic , Ian H Chin-Yee , Cyrus C Hsia

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 , Raissa Relator , 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

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.

Orphanet journal of rare diseases

Avec: Clara D M van Karnebeek , Anne O'Donnell-Luria , Gareth Baynam , Anaïs Baudot , Tudor Groza , Judith J M Jans , Timo Lassmann , Mary Catherine V Letinturier , Stephen B Montgomery , Peter N Robinson , Stefaan Sansen , Ruty Mehrian-Shai , Charles Steward , Kenjiro Kosaki , Patricia Durao , Bekim Sadikovic

Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.

American journal of medical genetics. Part A

Avec: Alice Man , Matteo Di Scipio , Haley McConkey , Rebecca Hough , Nina Stein , Eric Diehl , Christian R Marshall , Bekim Sadikovic , Resham Ejaz

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.

Human molecular genetics

Avec: Bekim Sadikovic , Michael A Levy , Erfan Aref-Eshghi

Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Current oncology (Toronto, Ont.)

Avec: T Spence , N Stickle , C Yu , H Chow , H Feilotter , B Lo , E McCready , B Sadikovic , L L Siu , P L Bedard , T L Stockley

Glucose-induced, duration-dependent genome-wide DNA methylation changes in human endothelial cells.

American journal of physiology. Cell physiology

Avec: Erfan Aref-Eshghi , Saumik Biswas , Charlie Chen , Bekim Sadikovic , Subrata Chakrabarti

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics

Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype.

Epigenomics

Avec: Bekim Sadikovic , Erfan Aref-Eshghi , Michael A Levy , David Rodenhiser

Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation.

Mitochondrion

Avec: Lauren Brady , Bekim Sadikovic , C Anthony Rupar , Mark A Tarnopolsky

Near complete deletion of KMT2D in a college student.

American journal of medical genetics. Part A

Avec: Catherine Gooch , Jaclyn Paige Souder , Matthew L Tedder , Jennifer Kerkhof , Jennifer A Lee , Raymond J Louie , Bekim Sadikovic , Robin S Fletcher , Nathaniel H Robin

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

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

Avec: Jennifer Kerkhof , Gabriella Maria Squeo , Haley McConkey , Michael A Levy , Maria Rosaria Piemontese , Marco Castori , Maria Accadia , Elisa Biamino , Matteo Della Monica , Marilena Carmela Di Giacomo , Cristina Gervasini , Silvia Maitz , Daniela Melis , Donatella Milani , Maria Piccione , Paolo Prontera , Angelo Selicorni , Bekim Sadikovic , Giuseppe Merla

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Journal of human genetics

Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Deana Alexis Carere , Michael Volodarsky , Pratibha Bhai , Samantha Colaiacovo , Maha Saleh , Michelle Caudle , Natalya Karp , Chitra Prasad , Tugce Balci , Hanxin Lin , Craig Campbell , Victoria Mok Siu , Bekim Sadikovic

Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.

International journal of molecular sciences

Avec: Sadegheh Haghshenas , Pratibha Bhai , Erfan Aref-Eshghi , Bekim Sadikovic

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

International journal of molecular sciences

Avec: Kathleen Rooney , Michael A Levy , Sadegheh Haghshenas , Jennifer Kerkhof , Daniela Rogaia , Maria Giovanna Tedesco , Valentina Imperatore , Amedea Mencarelli , Gabriella Maria Squeo , Eleonora Di Venere , Giuseppe Di Cara , Alberto Verrotti , Giuseppe Merla , Matthew L Tedder , Barbara R DuPont , Bekim Sadikovic , Paolo Prontera

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Clinical epigenetics

Avec: Andrea Ciolfi , Aidin Foroutan , Alessandro Capuano , Lucia Pedace , Lorena Travaglini , Simone Pizzi , Marco Andreani , Evelina Miele , Federica Invernizzi , Chiara Reale , Celeste Panteghini , Maria Iascone , Marcello Niceta , Ralitza H Gavrilova , Laura Schultz-Rogers , Emanuele Agolini , Maria Francesca Bedeschi , Paolo Prontera , Matteo Garibaldi , Serena Galosi , Vincenzo Leuzzi , Paola Soliveri , Rory J Olson , Giovanna S Zorzi , Barbara M Garavaglia , Marco Tartaglia , 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 , Raissa Relator , 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

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

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

Avec: Reem Al-Jawahiri , Aidin Foroutan , Jennifer Kerkhof , Haley McConkey , Michael Levy , Sadegheh Haghshenas , Kathleen Rooney , Jasmin Turner , Debbie Shears , Muriel Holder , Henrietta Lefroy , Bruce Castle , Linda M Reis , Elena V Semina , Auteur inconnu , Katherine Lachlan , Kate Chandler , Thomas Wright , Jill Clayton-Smith , Franziska Phan Hug , Nelly Pitteloud , Lucia Bartoloni , Sabine Hoffjan , Soo-Mi Park , Ajay Thankamony , Melissa Lees , Emma Wakeling , Swati Naik , Britta Hanker , Katta M Girisha , Emanuele Agolini , Zampino Giuseppe , Ziegler Alban , Marine Tessarech , Boris Keren , Alexandra Afenjar , Christiane Zweier , Andre Reis , Thomas Smol , Yoshinori Tsurusaki , Okamoto Nobuhiko , Futoshi Sekiguchi , Naomi Tsuchida , Naomichi Matsumoto , Ikuyo Kou , Yoshiro Yonezawa , Shiro Ikegawa , Bert Callewaert , Megan Freeth , Auteur inconnu , Lotte Kleinendorst , Alan Donaldson , Marielle Alders , Anne De Paepe , Bekim Sadikovic , Alisdair McNeill

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 , Raissa Relator , 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

Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.

Journal of human genetics

Avec: Aren E Marshall , Yijing Liang , Madeline Couse , Haley McConkey , Auteur inconnu , Bekim Sadikovic , Kym M Boycott , David A Dyment , Kristin D Kernohan

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 , Raissa Relator , 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

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

European journal of medical genetics

Avec: Juliette Coursimault , Alice Goldenberg , Gaël Nicolas , Pascale Saugier-Veber , Sophie Coutant , Anne Vincent , Dorothée Pouliquen , Cécile Feltin , Erfan Aref-Eshghi , Bekim Sadikovic , François Lecoquierre

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics

Avec: Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha S Zaki , Andrea Ciolfi , Julien Paccaud , François Girodon , Odile Boespflug-Tanguy , Thomas Besnard , Jennifer Kerkhof , Haley McConkey , Aymeric Masson , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Eva Trochu , Virginie Vignard , Fatima El It , Lance H Rodan , Mohammad Ayman Alkhateeb , Rami Abou Jamra , Laurence Duplomb , Emilie Tisserant , Yannis Duffourd , Ange-Line Bruel , Adam Jackson , Siddharth Banka , Meriel McEntagart , Anand Saggar , Joseph G Gleeson , David Sievert , Hyunwoo Bae , Beom Hee Lee , Kisang Kwon , Go Hun Seo , Hane Lee , Anjum Saeed , Nadeem Anjum , Huma Cheema , Salem Alawbathani , Imran Khan , Jorge Pinto-Basto , Joyce Teoh , Jasmine Wong , Umar Bin Mohamad Sahari , Henry Houlden , Kristina Zhelcheska , Melanie Pannetier , Mona A Awad , Marion Lesieur-Sebellin , Giulia Barcia , Jeanne Amiel , Julian Delanne , Christophe Philippe , Laurence Faivre , Sylvie Odent , Aida Bertoli-Avella , Christel Thauvin , Bekim Sadikovic , Bruno Reversade , Reza Maroofian , Jérôme Govin , Marco Tartaglia , Antonio Vitobello

T-cell clonality testing for the diagnosis of T-cell large granular lymphocytic leukemia: Are we identifying pathology or incidental clones?

International journal of laboratory hematology

Avec: Benjamin Chin-Yee , Abitha Suthakaran , Benjamin D Hedley , Christopher Howlett , Alan Stuart , Bekim Sadikovic , Ian H Chin-Yee , Cyrus C Hsia

The discovery of the DNA methylation episignature for Duchenne muscular dystrophy.

Neuromuscular disorders : NMD

Avec: Leighton Schreyer , Jack Reilly , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Jonathan Hu , Mona Hnaini , Bekim Sadikovic , Craig Campbell

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Neuromuscular disorders : NMD

Avec: Roula Ghaoui , Thuong T Ha , Jennifer Kerkhof , Haley McConkey , Song Gao , Milena Babic , Rob King , Gianina Ravenscroft , Barbara Koszyca , Sophia Otto , Nigel G Laing , Hamish Scott , Bekim Sadikovic , Karin S Kassahn

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 , Raissa Relator , 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 , Raissa Relator , 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

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

American journal of medical genetics. Part A

Avec: Ryan J German , Blake Vuocolo , Liesbeth Vossaert , Lisa Saba , Robin Fletcher , Matthew L Tedder , Bekim Sadikovic , Jennifer Kerkhof , Michael Wangler , Carlos A Bacino , Auteur inconnu

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.

Journal of medical genetics

Avec: Michael Volodarsky , Jennifer Kerkhof , Alan Stuart , Michael Levy , Lauren I Brady , Mark Tarnopolsky , Hanxin Lin , Peter Ainsworth , Bekim Sadikovic

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

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

Avec: Gerarda Cappuccio , Camille Sayou , Pauline Le Tanno , Emilie Tisserant , Ange-Line Bruel , Sara El Kennani , Joaquim Sá , Karen J Low , Cristina Dias , Markéta Havlovicová , Miroslava Hančárová , Evan E Eichler , Françoise Devillard , Sébastien Moutton , Julien Van-Gils , Christèle Dubourg , Sylvie Odent , Bénédicte Gerard , Amélie Piton , Toshiyuki Yamamoto , Nobuhiko Okamoto , Helen Firth , Kay Metcalfe , Anna Moh , Kimberly A Chapman , Erfan Aref-Eshghi , Jennifer Kerkhof , Annalaura Torella , Vincenzo Nigro , Laurence Perrin , Juliette Piard , Gwenaël Le Guyader , Thibaud Jouan , Christel Thauvin-Robinet , Yannis Duffourd , Jaya K George-Abraham , Catherine A Buchanan , Denise Williams , Usha Kini , Kate Wilson , Auteur inconnu , Sérgio B Sousa , Raoul C M Hennekam , Bekim Sadikovic , Julien Thevenon , Jérôme Govin , Antonio Vitobello , Nicola Brunetti-Pierri

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Clinical epigenetics

Avec: Andrea Ciolfi , Erfan Aref-Eshghi , Simone Pizzi , Lucia Pedace , Evelina Miele , Jennifer Kerkhof , Elisabetta Flex , Simone Martinelli , Francesca Clementina Radio , Claudia A L Ruivenkamp , Gijs W E Santen , Emilia Bijlsma , Daniela Barge-Schaapveld , Katrin Ounap , Victoria Mok Siu , R Frank Kooy , Bruno Dallapiccola , Bekim Sadikovic , Marco Tartaglia

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Mitochondrion

Avec: Julia N Heighton , Lauren I Brady , Bekim Sadikovic , Dennis E Bulman , Mark A Tarnopolsky

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Clinical epigenetics

Avec: Eric G Bend , Erfan Aref-Eshghi , David B Everman , R Curtis Rogers , Sara S Cathey , Eloise J Prijoles , Michael J Lyons , Heather Davis , Katie Clarkson , Karen W Gripp , Dong Li , Elizabeth Bhoj , Elaine Zackai , Paul Mark , Hakon Hakonarson , Laurie A Demmer , Michael A Levy , Jennifer Kerkhof , Alan Stuart , David Rodenhiser , Michael J Friez , Roger E Stevenson , Charles E Schwartz , Bekim Sadikovic

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Clinical epigenetics

Avec: I M Krzyzewska , S M Maas , P Henneman , K V D Lip , A Venema , K Baranano , A Chassevent , E Aref-Eshghi , A J van Essen , T Fukuda , H Ikeda , M Jacquemont , H-G Kim , A Labalme , S M E Lewis , G Lesca , I Madrigal , S Mahida , N Matsumoto , R Rabionet , E Rajcan-Separovic , Y Qiao , B Sadikovic , H Saitsu , D A Sweetser , M Alders , M M A M Mannens

Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours.

PloS one

Avec: John Bartlett , Yutaka Amemiya , Heleen Arts , Jane Bayani , Barry Eng , Daria Grafodatskaya , Suzanne Kamel Reid , Mathieu Lariviere , Bryan Lo , Rebecca McClure , Vinay Mittal , Bekim Sadikovic , Seth Sadis , Arun Seth , Jeff Smith , Xiao Zhang , Harriet Feilotter

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 , Raissa Relator , 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

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

NPJ genomic medicine

Avec: Michael A Levy , David B Beck , Kay Metcalfe , Sofia Douzgou , Sivagamy Sithambaram , Trudie Cottrell , Muhammad Ansar , Jennifer Kerkhof , Cyril Mignot , Marie-Christine Nougues , Boris Keren , Hannah W Moore , Renske Oegema , Jacques C Giltay , Marleen Simon , Richard H van Jaarsveld , Jessica Bos , Mieke van Haelst , M Mahdi Motazacker , Elles M J Boon , Gijs W E Santen , Claudia A L Ruivenkamp , Marielle Alders , Teresa Romeo Luperchio , Leandros Boukas , Keri Ramsey , Vinodh Narayanan , G Bradley Schaefer , Roberto Bonasio , Kimberly F Doheny , Roger E Stevenson , Siddharth Banka , Bekim Sadikovic , Jill A Fahrner

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

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

Avec: Marjolein J A Weerts , Kristina Lanko , Francisco J Guzmán-Vega , Adam Jackson , Reshmi Ramakrishnan , Kelly J Cardona-Londoño , Karla A Peña-Guerra , Yolande van Bever , Barbara W van Paassen , Anneke Kievit , Marjon van Slegtenhorst , Nicholas M Allen , Caroline M Kehoe , Hannah K Robinson , Lewis Pang , Selina H Banu , Mashaya Zaman , Stephanie Efthymiou , Henry Houlden , Irma Järvelä , Leena Lauronen , Tuomo Määttä , Isabelle Schrauwen , Suzanne M Leal , Claudia A L Ruivenkamp , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Hamid Galehdari , Neda Mazaheri , Sanjay M Sisodiya , Victoria Harrison , Angela Sun , Jenny Thies , Luis Alberto Pedroza , Yana Lara-Taranchenko , Ivan K Chinn , James R Lupski , Alexandra Garza-Flores , Jeffery McGlothlin , Lin Yang , Shaoping Huang , Xiaodong Wang , Tamison Jewett , Gretchen Rosso , Xi Lin , Shehla Mohammed , J Lawrence Merritt , Ghayda M Mirzaa , Andrew E Timms , Joshua Scheck , Mariet W Elting , Abeltje M Polstra , Lauren Schenck , Maura R Z Ruzhnikov , Annalisa Vetro , Martino Montomoli , Renzo Guerrini , Daniel C Koboldt , Theresa Mihalic Mosher , Matthew T Pastore , Kim L McBride , Jing Peng , Zou Pan , Marjolein Willemsen , Susanne Koning , Peter D Turnpenny , Bert B A de Vries , Christian Gilissen , Rolph Pfundt , Melissa Lees , Stephen R Braddock , Kara C Klemp , Fleur Vansenne , Marielle E van Gijn , Catherine Quindipan , Matthew A Deardorff , J Austin Hamm , Abbey M Putnam , Rebecca Baud , Laurence Walsh , Sally A Lynch , Julia Baptista , Richard E Person , Kristin G Monaghan , Amy Crunk , Jennifer Keller-Ramey , Adi Reich , Houda Zghal Elloumi , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Sadegheh Haghshenas , Auteur inconnu , Reza Maroofian , Bekim Sadikovic , Siddharth Banka , Stefan T Arold , Tahsin Stefan Barakat

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for

International journal of molecular sciences

Avec: Aidin Foroutan , Sadegheh Haghshenas , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Marcello Niceta , Andrea Ciolfi , Lucia Pedace , Evelina Miele , David Genevieve , Solveig Heide , Mariëlle Alders , Giuseppe Zampino , Giuseppe Merla , Mélanie Fradin , Eric Bieth , Dominique Bonneau , Klaus Dieterich , Patricia Fergelot , Elise Schaefer , Laurence Faivre , Antonio Vitobello , Silvia Maitz , Rita Fischetto , Cristina Gervasini , Maria Piccione , Ingrid van de Laar , Marco Tartaglia , Bekim Sadikovic , Anne-Sophie Lebre

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

medRxiv : the preprint server for health sciences

Avec: María Del Rocío Pérez Baca , Eva Z Jacobs , Lies Vantomme , Pontus Leblanc , Elke Bogaert , Annelies Dheedene , Laurenz De Cock , Sadegheh Haghshenas , Aidin Foroutan , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Chun-An Chen , Nurit Assia Batzir , Xia Wang , Maria Palomares , Marieke Carels , Auteur inconnu , Bart Demaut , Bekim Sadikovic , Björn Menten , Bo Yuan , Sarah Vergult , Bert Callewaert

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Caitlin Forwood , Katie Ashton , Ying Zhu , Futao Zhang , Kerith-Rae Dias , Krystle Standen , Carey-Anne Evans , Louise Carey , Michael Cardamone , Carolyn Shalhoub , Hala Katf , Carlos Riveros , Tzung-Chien Hsieh , Peter Krawitz , Peter N Robinson , Tracy Dudding-Byth , Bekim Sadikovic , Jason Pinner , Michael F Buckley , Tony Roscioli

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 , Raissa Relator , 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 , Raissa Relator , 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

Heterozygous loss-of-function

medRxiv : the preprint server for health sciences

Avec: Morad Ansari , Kamli N W Faour , Akiko Shimamura , Graeme Grimes , Emeline M Kao , Erica R Denhoff , Ana Blatnik , Daniel Ben-Isvy , Lily Wang , Benjamin M Helm , Helen Firth , Amy M Breman , Emilia K Bijlsma , Aiko Iwata-Otsubo , Thomy J L de Ravel , Vincent Fusaro , Alan Fryer , Keith Nykamp , Lara G Stühn , Tobias B Haack , G Christoph Korenke , Panayiotis Constantinou , Kinga M Bujakowska , Karen J Low , Emily Place , Jennifer Humberson , Melanie P Napier , Jessica Hoffman , Jane Juusola , Matthew A Deardorff , Wanqing Shao , Shira Rockowitz , Ian Krantz , Maninder Kaur , Sarah Raible , Sabine Kliesch , Moriel Singer-Berk , Emily Groopman , Stephanie DiTroia , Sonia Ballal , Siddharth Srivastava , Kathrin Rothfelder , Saskia Biskup , Jessica Rzasa , Jennifer Kerkhof , Haley McConkey , Anne O'Donnell-Luria , Bekim Sadikovic , Sarah Hilton , Siddharth Banka , Frank Tüttelmann , Donald Conrad , Michael E Talkowski , David R FitzPatrick , Philip M Boone

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

Research square

Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Raissa Relator , 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 , Raissa Relator , 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

Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.

Frontiers in cell and developmental biology

Avec: Haley McConkey , Alexandre White-Brown , Jennifer Kerkhof , David Dyment , Bekim Sadikovic

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.

European journal of human genetics : EJHG

Avec: Amarens Hoogenboom , Farah A Falix , Liselot van der Laan , Jennifer Kerkhof , Mariëlle Alders , Bekim Sadikovic , Mieke M van Haelst

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 , Raissa Relator , 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

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

HGG advances

Avec: Sadegheh Haghshenas , Hidde J Bout , Josephine M Schijns , Michael A Levy , Jennifer Kerkhof , Pratibha Bhai , Haley McConkey , Zandra A Jenkins , Ella M Williams , Benjamin J Halliday , Sylvia A Huisman , Peter Lauffer , Vivian de Waard , Laura Witteveen , Siddharth Banka , Angela F Brady , Elena Galazzi , Julien van Gils , Anna C E Hurst , Frank J Kaiser , Didier Lacombe , Antonio F Martinez-Monseny , Patricia Fergelot , Fabíola P Monteiro , Ilaria Parenti , Luca Persani , Fernando Santos Simarro , Brittany N Simpson , Auteur inconnu , Mariëlle Alders , Stephen P Robertson , Bekim Sadikovic , Leonie A Menke

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 , Raissa Relator , 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 , Raissa Relator , 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

Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.

Genome biology

Avec: Daniel E Martin-Herranz , Erfan Aref-Eshghi , Marc Jan Bonder , Thomas M Stubbs , Sanaa Choufani , Rosanna Weksberg , Oliver Stegle , Bekim Sadikovic , Wolf Reik , Janet M Thornton

Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Human mutation

Avec: Erfan Aref-Eshghi , Danielle K Bourque , Jennifer Kerkhof , Deanna Alexis Carere , Peter Ainsworth , Bekim Sadikovic , Christine M Armour , Hanxin Lin

Genomic data in prognostic models-what is lost in translation? The case of deletion 17p and mutant TP53 in chronic lymphocytic leukaemia.

British journal of haematology

Avec: Benjamin Chin-Yee , Bekim Sadikovic , Ian H Chin-Yee

CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation.

Mitochondrion

Avec: Mark A Tarnopolsky , Arun N E Sundaram , John Provias , Lauren Brady , Bekim Sadikovic

Réseau de co-auteurs

Jennifer Kerkhof 53 collaborations

Haley McConkey 37 collaborations

Michael A Levy 35 collaborations

Raissa Relator 22 collaborations

Sadegheh Haghshenas 18 collaborations

Matthew L Tedder 16 collaborations

Erfan Aref-Eshghi 15 collaborations

None None 14 collaborations

Pratibha Bhai 13 collaborations

Kathleen Rooney 13 collaborations

Siddharth Banka 12 collaborations

Hanxin Lin 11 collaborations

Alan Stuart 11 collaborations

Laurence Faivre 11 collaborations

Antonio Vitobello 11 collaborations

David Genevieve 10 collaborations

Liselot van der Laan 10 collaborations

Mariëlle Alders 10 collaborations

Peter Henneman 10 collaborations

Marielle Alders 10 collaborations

Marco Tartaglia 9 collaborations

Aidin Foroutan 8 collaborations

Andrea Ciolfi 8 collaborations

Giuseppe Merla 8 collaborations

Alfredo Brusco 8 collaborations

Jack Reilly 7 collaborations

Mouna Barat-Houari 7 collaborations

Jennifer A Lee 7 collaborations

Raymond J Louie 7 collaborations

Boris Keren 7 collaborations

Marcel M A M Mannens 7 collaborations

Roger E Stevenson 7 collaborations

Slavica Trajkova 7 collaborations

Benjamin Chin-Yee 6 collaborations

Alejandro Lazo-Langner 6 collaborations

Mieke M van Haelst 6 collaborations

Nicola Brunetti-Pierri 6 collaborations

Christel Thauvin-Robinet 6 collaborations

Tony Roscioli 6 collaborations

Gerarda Cappuccio 6 collaborations

Mariet W Elting 6 collaborations

Paolo Prontera 6 collaborations

Cyrus C Hsia 5 collaborations

Stephanie Santos 5 collaborations

Christopher Howlett 5 collaborations

Christophe Philippe 5 collaborations

Peter Lauffer 5 collaborations

Lisenka E L M Vissers 5 collaborations

Tjitske Kleefstra 5 collaborations

Nicolas Chatron 5 collaborations

Victoria Mok Siu 5 collaborations

Jessica Rzasa 5 collaborations

David J Amor 5 collaborations

Barbara R DuPont 5 collaborations

Robin S Fletcher 5 collaborations

Steven A Skinner 5 collaborations

Michael J Friez 5 collaborations

Gaetan Lesca 5 collaborations

Renske Oegema 5 collaborations

Maria Piccione 5 collaborations

Niels Vos 5 collaborations

Leonie A Menke 5 collaborations

B Sadikovic 4 collaborations

Benjamin D Hedley 4 collaborations

Ping Yang 4 collaborations

Peter Ainsworth 4 collaborations

Michael Levy 4 collaborations

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Gaël Nicolas 4 collaborations

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Bertrand Isidor 3 collaborations

Mala Misra-Isrie 3 collaborations

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Elke Bogaert 3 collaborations

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Lauren Brady 3 collaborations

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C Yu 2 collaborations

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