Richard J Leventer (R Leventer, R J Leventer)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 30

Top Topics

Intellectual Disability

Cerebral Ischemia

Top Venues

medRxiv : the preprint server for health sciences

Brain : a journal of neurology

AJNR. American journal of neuroradiology

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

Publications

Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Michele G Mehaffey, Amy J LaCroix, Jayne Antony, Richard Webster, Michael Cardamone, Gopinath M Subramanian, Annie Ting Gee Chiu, Eugenia Roza, Raluca I Teleanu, Stephen Malone, Richard J Leventer, Deepak Gill, Samuel Frank Berkovic, Michael S Hildebrand, Beatrice S Goad, Katherine B Howell, Joseph D Symonds, Andreas Brunklaus, Lynette G Sadleir, Sameer M Zuberi, Heather C Mefford, Ingrid Eileen Scheffer
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS). Annals of neurology (2024)
Daniz Kooshavar, David J Amor, Kirsten Boggs, Naomi Baker, Christopher Barnett, Michelle G de Silva, Samantha Edwards, Michael C Fahey, Justine E Marum, Penny Snell, Kiymet Bozaoglu, Kate Pope, Shekeeb S Mohammad, Kate Riney, Rani Sachdev, Ingrid E Scheffer, Sarah Schenscher, John Silberstein, Nicholas Smith, Melanie Tom, Tyson L Ware, Paul J Lockhart, Richard J Leventer
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations. Brain communications 6 (2) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Emma Macdonald-Laurs, Aaron E L Warren, Richard J Leventer, A Simon Harvey
Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy. Epilepsia (2024)
Daniz Kooshavar, David J Amor, Kirsten Boggs, Naomi Baker, Christopher Barnett, Michelle G de Silva, Samantha Edwards, Michael C Fahey, Justine E Marum, Penny Snell, Kiymet Bozaoglu, Kate Pope, Shekeeb S Mohammad, Kate Riney, Rani Sachdev, Ingrid E Scheffer, Sarah Schenscher, John Silberstein, Nicholas Smith, Melanie Tom, Tyson L Ware, Paul J Lockhart, Richard J Leventer
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations. Brain communications 6 (2) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Emma Macdonald-Laurs, Aaron E L Warren, Richard J Leventer, A Simon Harvey
Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy. Epilepsia 65 (6) (2024)
Emma Macdonald-Laurs, Aaron E L Warren, Richard J Leventer, A Simon Harvey
Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy. Epilepsia 65 (6) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Emma Macdonald-Laurs, Aaron E L Warren, Peter Francis, Simone A Mandelstam, Wei Shern Lee, Matthew J Coleman, Sarah E M Stephenson, Sarah Barton, Colleen D'Arcy, Paul J Lockhart, Richard J Leventer, A Simon Harvey
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia. Brain : a journal of neurology (2023)
Wei Shern Lee, Richard J Leventer, Paul J Lockhart
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II. Brain : a journal of neurology (2022)
Emma Macdonald-Laurs, Aaron E L Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, Andrew Neal, A Simon Harvey
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II. Epilepsia 64 (2) (2022)
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman Gamal El Din Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain : a journal of neurology 145 (9) (2022)
Emma Macdonald-Laurs, Aaron E L Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, Andrew Neal, A Simon Harvey
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II. Epilepsia 64 (2) (2022)
Benjamin J Halliday, G Baynam, L Ewans, L Greenhalgh, Richard J Leventer, D T Pilz, R Sachdev, Ingrid Eileen Scheffer, David M Markie, George McGillivray, Stephen P Robertson, Simone A Mandelstam
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome. AJNR. American journal of neuroradiology 43 (11) (2022)
Emma Macdonald-Laurs, Aaron E L Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, Andrew Neal, A Simon Harvey
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II. Epilepsia 64 (2) (2022)
Emma Macdonald-Laurs, Aaron E L Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, Andrew Neal, A Simon Harvey
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II. Epilepsia 64 (2) (2022)
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Claire Ewenczyk, Kayli C Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan Robert E Ansell, Ivo van der Stelt, Katherine B Howell, Marie Coutelier, David J Amor, Emeline Mundwiller, Lena Guillot-Noël, Elsdon Storey, R J McKinlay Gardner, Mathew J Wallis, Alfredo Brusco, Olga Corti, Agnes Rotig, Richard J Leventer, Alexis Brice, Martin B Delatycki, Giovanni Stevanin, Paul J Lockhart, Alexandra Dürr
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of neurology 92 (1) (2022)
Emma Macdonald-Laurs, Aaron E L Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J Lockhart, Richard J Leventer, Andrew Neal, A Simon Harvey
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II. Epilepsia (2022)
Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle-Biassette, Sarah E M Stephenson, Wirginia Maixner, A Simon Harvey, Paul J Lockhart, Stephanie Baulac, Richard J Leventer
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. Annals of clinical and translational neurology 8 (2) (2021)
Subramanian Subramanian, Asthik Biswas, César Augusto Pinheiro Ferreira Alves, Sniya Valsa Sudhakar, Karuna Shekdar, Pradeep Krishnan, Manohar M Shroff, Ajay Taranath, Filippo Arrigoni, Kimberly A Aldinger, Richard J Leventer, William B Dobyns, Kshitij Mankad
ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development. AJNR. American journal of neuroradiology (2021)
Chloe A Stutterd, Stefanie Brock, Katrien Stouffs, Miriam Fanjul-Fernandez, Paul J Lockhart, George McGillivray, Simone Mandelstam, Kate Pope, Martin B Delatycki, Anna Jansen, Richard J Leventer
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing. Brain communications 3 (1) (2020)
Filippo Arrigoni, Denis Peruzzo, Simone A Mandelstam, G Amorosino, D Redaelli, Ludovica Pasca, Richard J Leventer, Renato Borgatti, Marc L Seal, Joseph Yuan-Mou Yang
Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study. AJNR. American journal of neuroradiology 41 (8) (2020)
Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi-Buisson, Valerio Conti, Andrew E Fry, Tobias Geis, David Gomez Andres, Elena Parrini, Ivana Pogledic, Edith Said, Doriette Soler, Luis M Valor, Maha Saad Zaki, Ghayda M Mirzaa, William B Dobyns, Orly Reiner, Renzo Guerrini, Daniela T Pilz, Ute Hehr, Richard J Leventer, Anna C Jansen, Grazia M S Mancini, Nataliya Di Donato
International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature reviews. Neurology 16 (11) (2020)
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel Frank Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Annals of clinical and translational neurology 6 (7) (2019)