Boris Keren (Keren Boris)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 20

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Myasthenia Gravis

Top Venues

Science advances

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

medRxiv : the preprint server for health sciences

Neurology. Genetics

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

Publications

Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Yamina A Berchiche, D Eric Anderson, Kirk M Druey, Judith N Mandl, Bertrand Isidor, Carlos R Ferreira, Alexandra F Freeman, Sundar Ganesan, Meliha Karsak, Peter J Mustillo, Juliana Teo, Zarazuela Zolkipli-Cunningham, Nicolas Chatron, Francois Lecoquierre, Andrew J Oler, Jana Pachlopnik Schmid, Douglas B Kuhns, Xuehua Xu, Fabian H Hauck, Waleed Al Herz, Matias Wagner, Paulien Anna Terhal, Mari Muurinen, Vincent Barlogis, Phillip Cruz, Jeffrey Danielson, Helen Stewart, Petra Loid, Sebastian Rading, Boris Keren, Rolph Pfundt, Kol A Zarember, Katharina Vill, Lorraine Potocki, Kenneth N Olivier, Gaëtan Lesca, Laurence Olivier-Faivre, Melanie Wong, Anne Puel, Janet Chou, Maud Tusseau, Niki M Moutsopoulos, Helen F Matthews, Cas Simons, Ryan J Taft, Ariane G Soldatos, Etienne Masle-Farquhar, Stefania Pittaluga, Robert Brink, Danielle L Fink, Heidi H Kong, Juraj Kabat, Woo Sung Kim, Tatjana Bierhals, Kazuyuki Meguro, Amy P Hsu, Jingwen Gu, Jennifer Stoddard, Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin, Benoit Mazel, Maarja Soomann, Samuel Li, Val J Watts, Constantine A Stratakis, Maria F Rodriguez-Quevedo, Ange-Line Bruel, Marita Lipsanen-Nyman, Paul Saultier, Rashmi Jain, Daphne Lehalle, Daniel Torres, Kathleen E Sullivan, Sébastien Barbarot, Axel Neu, Yannis Duffourd, Morgan N Similuk, Kirsty McWalter, Pierre Blanc, Stephane Bezieau, Tian Jin, Raif S Geha, Jean Laurent Casanova, Outimaija Mäkitie, Christian Kubisch, Patrick Edery, John Chrisodoulou, Ronald N Germain, Christopher C Goodnow, Thomas P Sakmar, Daniel D Billadeau, Sébastien Küry, Vladimir L Katanaev, Yu Zhang, Michael J Lenardo, Helen C Su
Germline mutations in a G protein identify signaling cross-talk in T cells. Science (New York, N.Y.) 385 (6715) (2024)
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew Oetjens, Hermela Shimelis, Cora M Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, L Allach El Khattabi, Ingrid M B H van de Laar, Rafik Tadros, Connie R Bezzina, Marjon van Slegtenhorst, Janneke A E Kammeraad, Paolo Prontera, Jean-Hubert Caberg, Harry Fraser, Siddhartha Banka, Anke van Dijck, Charles Schwartz, Els Voorhoeve, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Mathilde Lefebvre, Kate Pope, Penny Snell, Amber Boys, Paul J Lockhart, Myla Ashfaq, Elizabeth McCready, Margaret Nowacyzk, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Maria Grazia Bruccheri, Giuseppa Maria Luana Mandarà, Francesca Mari, Flavia Privitera, Ilaria Longo, Aurora Currò, Alessandra Renieri, Boris Keren, Perrine Charles, Silvestre Cuinat, Mathilde Nizon, Olivier Pichon, Claire Beneteau, Radka Stoeva, Dominique Martin-Coignard, Sophia Blesson, Cedric Le Caignec, Sandra Mercier, Marie Vincent, Christa Lese Martin, Katrin Mannik, Alexandre Reymond, Laurence Olivier-Faivre, Erik A Sistermans, R Frank Kooy, David J Amor, Corrado Romano, Joris Andrieux, Santhosh D Girirajan
Genetic modifiers and ascertainment drive variable expressivity of complex disorders. medRxiv : the preprint server for health sciences (2024)
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn S Pais, Anne H O'Donnell-Luria, Grace E VanNoy, Allan Bayat, Rikke Steensjerre Moller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H Seaver, Jennifer A Sullivan, Vandana Shashi, Fowzan Sami Alkuraya, Alexis F Poss, J Edward Spence, Rhonda E Schnur, Ian C Forster, Chaseley E McKenzie, Cas Simons, Min Wang, Penny Snell, Russell C Dale, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Henrion Daniel, Guy Lenaers, Estelle Colin, Nienke E Verbeek, Koen L Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A Reid, Katherine B Howell, Alban Ziegler, Christian Legros
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, Julien Buratti, Sophia Xirou, Margarita Chrysanthou-Piterou, Giorgos-Konstantinos Papadimas
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy. International journal of molecular sciences 24 (13) (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon H Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter M Krawitz, Linus Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, Francois V Bolduc, Elke Krüger, Stephane Bezieau
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science translational medicine 15 (698) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Yeboah Kofi Gyening, Boris Keren, Mignot Cyril, Richard S Brush, Marie-Cécile Nassogne, Martin-Paul Agbaga
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta neuropathologica communications 11 (1) (2023)
Maria Bejerholm Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P Bhatia, Tatjana Bierhals, Christian Malte Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco-Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B Haack, Trine B Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J Müller, Anna J Oostra, Beth A Pletcher, David Ros-Pardo, Shanika R Samarasekera, Tartaglia Marco, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha Saad Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gómez-Puertas, Rikke Steensjerre Moller, Zeynep Tümer
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical genetics 102 (2) (2022)
Bigna Katrin Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M Lasorsa, Christine Makowski, Cyril Mignot, Ruth Tuura O'Gorman, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes Adalbert Mayr, Holger Prokisch, Saskia B Wortmann
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 14 (17) (2022)
Patricia Morejon-Garcia, Boris Keren, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Fanny Mochel, Pedro A Lazo
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia. Neurology. Genetics 7 (5) (2021)
Alison M R Castle, Smrithi Salian, Haim Bassan, Efrat Sofrin-Drucker, Raffaella Cusmai, Kristin C Herman, Delphine Heron, Boris Keren, Devon L Johnstone, Wendy Mears, Susanne Morlot, Thi Tuyet Mai Nguyen, Rachel Rock, Elliot Stolerman, Julia Russo, William Boyce Burns, Julie R Jones, Valentina Serpieri, Hannah Wallaschek, Ginevra Zanni, David A Dyment, Philippe M Campeau
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1. Neurology. Genetics 7 (6) (2021)
Marjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, Lisa G Riley, Desiree E C Smith, Joëlle Rudinger-Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frederic Tran Mau-Them, Richard J Rodenburg, Ryan J Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons, Gajja S Salomons, Fanny Mochel
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. Neurology 92 (11) (2019)
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D Roberts, Robert M Petrovich, Samantha A Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth DeChene, Shane C Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle C Monteil, Elizabeth R Roeder, Kimberly Nugent, Arie van Haeringen, Michael Gambello, Avni Santani, Līvija Medne, Bryan Krock, Cara M Skraban, Elaine H Zackai, Holly A Dubbs, Thomas Smol, Jamal Ghoumid, Michael J Parker, Michael Wright, Peter D Turnpenny, Jill Clayton-Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D Gelb, Hagit Baris Feldman, Philippe M Campeau, Maximilian Muenke, Paul A Wade, Katherine Lachlan
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stránecký, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Mignot Cyril, Marlène Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS genetics 14 (11) (2018)
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique Paul Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. Genetics in medicine : official journal of the American College of Medical Genetics 19 (8) (2017)