Jennifer Kerkhof

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 29

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

European journal of human genetics : EJHG

Nature communications

International journal of molecular sciences

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)
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)
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi, René Massimiliano Marsano, Lenka Holoubkova, Maria Rivieccio, Maria Oro, Nicoletta Resta, Jennifer Kerkhof, Bekim Sadikovic, Luigi Viggiano
De Novo Pathogenic Variant in FBRSL1 , Non OMIM Gene Paralogue AUTS2 , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature. Genes 15 (7) (2024)
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi, René Massimiliano Marsano, Lenka Holoubkova, Maria Rivieccio, Maria Oro, Nicoletta Resta, Jennifer Kerkhof, Bekim Sadikovic, Luigi Viggiano
De Novo Pathogenic Variant in FBRSL1 , Non OMIM Gene Paralogue AUTS2 , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature. Genes 15 (7) (2024)
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 D Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Olivier-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
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 (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)
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi, René Massimiliano Marsano, Lenka Holoubkova, Maria Rivieccio, Maria Oro, Nicoletta Resta, Jennifer Kerkhof, Bekim Sadikovic, Luigi Viggiano
De Novo Pathogenic Variant in FBRSL1 , Non OMIM Gene Paralogue AUTS2 , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature. Genes 15 (7) (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)
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)
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J Curry, Patrick S Tarpey, Stephen P Robertson, Isabelle Maystadt, Boris Keren, Joanne W Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L Tedder, Charles E Schwartz, Michael J Friez, Bekim Sadikovic, Roger E Stevenson
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European journal of human genetics : EJHG (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)
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
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
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
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
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
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
Jennifer Kerkhof, Cassandra Rastin, Laila Schenkel, Hanxin Lin, Bekim Sadikovic
Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants. Expert review of molecular diagnostics (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)
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
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis. Genes 14 (1) (2023)
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J Curry, Patrick S Tarpey, Stephen P Robertson, Isabelle Maystadt, Boris Keren, Joanne W Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L Tedder, Charles E Schwartz, Michael J Friez, Bekim Sadikovic, Roger E Stevenson
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European journal of human genetics : EJHG 30 (4) (2022)
Emily A Goebel, Jennifer Kerkhof, Oleksandra Dzyubak, C Meg McLachlin, Jacob McGee, Bekim Sadikovic
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma. Genes 13 (8) (2022)
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 M B H van de Laar, Tartaglia Marco, Bekim Sadikovic, Anne-Sophie Lèbre
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome. International journal of molecular sciences 23 (3) (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)
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 Mathiesen Torring, Anne Sophie Denommé-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
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. International journal of molecular sciences 23 (22) (2022)
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)
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
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome. International journal of molecular sciences 22 (16) (2021)