Bekim Sadikovic (B Sadikovic)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 48

Top Topics

Sickle Cell Disease

Dna Methylation

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
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 32 (4) (2024)
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-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
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 (2024)
Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Lisa Saba, Robin Fletcher, Matthew L Tedder, Bekim Sadikovic, Jennifer Kerkhof, Michael Wangler, Carlos A Bacino, null null
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. American journal of medical genetics. Part A (2024)
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-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Lisa Saba, Robin Fletcher, Matthew L Tedder, Bekim Sadikovic, Jennifer Kerkhof, Michael Wangler, Carlos A Bacino, null null
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. American journal of medical genetics. Part A (2024)
Ala Almanaseer, Benjamin Chin-Yee, Jenny Ho, Alejandro Lazo-Langner, Laila C Schenkel, Pratibha Bhai, Bekim Sadikovic, Ian H Chin-Yee, Cyrus C Hsia
An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis. Advances in hematology 2024 (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
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 32 (4) (2024)
Ala Almanaseer, Benjamin Chin-Yee, Jenny Ho, Alejandro Lazo-Langner, Laila C Schenkel, Pratibha Bhai, Bekim Sadikovic, Ian H Chin-Yee, Cyrus C Hsia
An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis. Advances in hematology 2024 (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Ala Almanaseer, Benjamin Chin-Yee, Jenny Ho, Alejandro Lazo-Langner, Laila C Schenkel, Pratibha Bhai, Bekim Sadikovic, Ian H Chin-Yee, Cyrus C Hsia
An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis. Advances in hematology 2024 (2024)
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, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L Tedder, Sachin Gupta, Elizabeth A Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim Carlyle Worley, Jill Anne Rosenfeld, Hsiao-Tuan Chao, null null, Geoffrey A Neale, Gemma Louise Carvill, null null, Zhaoming Wang, Samuel Frank Berkovic, Lynette G Sadleir, Danny E Miller, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications 15 (1) (2024)
Ala Almanaseer, Benjamin Chin-Yee, Jenny Ho, Alejandro Lazo-Langner, Laila C Schenkel, Pratibha Bhai, Bekim Sadikovic, Ian H Chin-Yee, Cyrus C Hsia
An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis. Advances in hematology 2024 (2024)
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-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
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-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG (2024)
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
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 32 (4) (2024)
Aren Elizabeth Marshall, Yijing Liang, Madeline Couse, Haley McConkey, null null, Bekim Sadikovic, Kym M Boycott, David A Dyment, Kristin D Kernohan
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance. Journal of human genetics (2023)
Candy Kumps, Erika D'haenens, Jennifer Kerkhof, Haley McConkey, Marielle Alders, Bekim Sadikovic, Olivier M Vanakker
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome. European journal of human genetics : EJHG (2023)
David Picketts, Ghayda M 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 B Dobyns, Kristen L 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, A Micheil Innes, Maeson Latsko, Tawfeg Ben-Omran, Rebecca Yeh, Michael C 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 Ann 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
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Research square (2023)
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Cindy D Skinner, Raymond C Caylor, Matthew L Tedder, Roger E Stevenson, Bekim Sadikovic, Charles E Schwartz
Identification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy. European journal of human genetics : EJHG (2023)
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Cindy D Skinner, Raymond C Caylor, Matthew L Tedder, Roger E Stevenson, Bekim Sadikovic, Charles E Schwartz
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy. European journal of human genetics : EJHG (2023)
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 M A M Mannens, Michael A Levy, Raissa Relator, Marielle Alders, Bekim Sadikovic
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A / KAT6B variants. Epigenomics (2023)
Liselot van der Laan, Kathleen Rooney, Tessa Ma Trooster, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman
DNA methylation episignatures: insight into copy number variation. Epigenomics (2022)
Benjamin Chin-Yee, Ian Cheong, Maxim Matyashin, Alejandro Lazo-Langner, Ian Chin-Yee, Vipin Bhayana, Pratibha Bhai, Hanxin Lin, Bekim Sadikovic, Cyrus C Hsia
Serum erythropoietin levels in 696 patients investigated for erythrocytosis with JAK2 mutation analysis. American journal of hematology 97 (4) (2022)
Liselot van der Laan, Kathleen Rooney, Tessa Ma Trooster, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman
DNA methylation episignatures: insight into copy number variation. Epigenomics 14 (21) (2022)
Liselot van der Laan, Kathleen Rooney, Tessa Ma Trooster, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman
DNA methylation episignatures: insight into copy number variation. Epigenomics (2022)
Liselot van der Laan, Kathleen Rooney, Tessa Ma Trooster, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman
DNA methylation episignatures: insight into copy number variation. Epigenomics 14 (21) (2022)
Liselot van der Laan, Kathleen Rooney, Tessa Ma Trooster, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman
DNA methylation episignatures: insight into copy number variation. Epigenomics 14 (21) (2022)
Paul Istasy, Wen Shen Lee, Alla Iansavichene, Ross E G Uphsur, Bishal Gyawali, Jacquelyn Burkell, Bekim Sadikovic, Alejandro Lazo-Langner, Benjamin Chin-Yee
The Impact of Artificial Intelligence on Health Equity in Oncology: Scoping Review. Journal of medical Internet research 24 (11) (2022)
Carolina Montano, Jacquelyn F Britton, Jacqueline R Harris, Jennifer Kerkhof, Benjamin T Barnes, Jennifer A Lee, Bekim Sadikovic, Nara Lygia de Macena Sobreira, Jill A Fahrner
Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1. American journal of medical genetics. Part A 188 (7) (2022)
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 John 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 A 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 P 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 M Boycott, Nicola Brunetti-Pierri, Philippe M Campeau, Dominique Campion, John Chrisodoulou, David Dyment, Natacha Esber, Jill A Fahrner, Mark Daniel 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, Tartaglia Marco, Marielle Alders, Matthew L Tedder, Bekim Sadikovic
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human mutation 43 (11) (2022)
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
Development of a comprehensive approach to adult hereditary cancer testing in Ontario. Journal of medical genetics (2022)
Benjamin Chin-Yee, Abitha Suthakaran, Benjamin D Hedley, Christopher Howlett, Alan Stuart, Bekim Sadikovic, Ian H Chin-Yee, Cyrus C Hsia
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 44 (6) (2022)
Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder, Jennifer Kerkhof, Jennifer A Lee, Raymond J Louie, Bekim Sadikovic, Robin S Fletcher, Nathaniel H Robin
Near complete deletion of KMT2D in a college student. American journal of medical genetics. Part A 188 (5) (2022)
Liselot van der Laan, Kathleen Rooney, Tessa Ma Trooster, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman
DNA methylation episignatures: insight into copy number variation. Epigenomics 14 (21) (2022)
Annalisa Paparella, Gabriella Maria Squeo, Eleonora Di Venere, Erica Cardea, Tommaso Mazza, Stefano Castellana, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Lorenzo Sinibaldi, Maria Cristina Digilio, Giuseppe Merla
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case. Journal of human genetics 67 (9) (2022)
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 H Chin-Yee
Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely? International journal of laboratory hematology (2021)
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, Bekim Sadikovic
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome. Clinical epigenetics 13 (1) (2021)
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E Schwartz, Roger E Stevenson, Steven A Skinner, Barbara R DuPont, Robin S Fletcher, Tugce B Balci, Victoria Mok Siu, Jorge L Granadillo, Jennefer Masters, Mike Kadour, Michael J Friez, Mieke M van Haelst, Marcel M A M Mannens, Raymond J Louie, Jennifer A Lee, Matthew L Tedder, Marielle Alders
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genetics in medicine : official journal of the American College of Medical Genetics 23 (6) (2021)
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou Houge, 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
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. NPJ genomic medicine 6 (1) (2021)
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou Houge, 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
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. NPJ genomic medicine 6 (1) (2021)
Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, Michael Levy, Lauren I Brady, Mark Tarnopolsky, Hanxin Lin, Peter Ainsworth, Bekim Sadikovic
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. Journal of medical genetics 58 (4) (2020)
Mark A Tarnopolsky, Jennifer Kerkhof, Alan Stuart, Adam Bujak, Mats I Nilsson, Bart Hettinga, Linda May, C Anthony Rupar, Bekim Sadikovic
Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 34 (7) (2020)
Jorge L Granadillo, Daniel J Wegner, Alexander J Paul, Marcia Willing, Kathleen Sisco, Matthew L Tedder, Bekim Sadikovic, Jennifer A Wambach, Dustin Baldridge, Francis Sessions Cole, null null
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. American journal of medical genetics. Part A 185 (2) (2020)
Michael A Levy, Jennifer Kerkhof, Frances R Belmonte, Brett A Kaufman, Pratibha Bhai, Lauren Brady, Lulu L C D Bursztyn, Mark A Tarnopolsky, Tony Rupar, Bekim Sadikovic
Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population. American journal of medical genetics. Part A 185 (2) (2020)
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
Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies. European journal of haematology 103 (3) (2019)