Rick Leventer

Structural Neuroplastic Responses Preserve Functional Connectivity and Neurobehavioural Outcomes in Children Born Without Corpus Callosum

Vanessa Siffredi, Maria G Preti, Valeria Kebets, Silvia Obertino, Richard J Leventer, Alissandra McIlroy, Amanda G Wood, Vicki Anderson, Megan M Spencer-Smith, Dimitri Van de Ville

Journal article  |  2021  |  CEREBRAL CORTEX

The corpus callosum is the largest white matter pathway in the brain connecting the two hemispheres. In the context of development..

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean G Phelan, Melanie O'Keefe, Kirby Siemering, Kirsty West, Adrienne Sexton, Anna Jarmolowicz, Jessica A Taylor, Joshua Schultz, et al.

Journal article  |  2021  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for ..

Defining the phenotypical spectrum associated with variants in TUBB2A

Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Regal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Kraegeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, et al.

Journal article  |  2021  |  JOURNAL OF MEDICAL GENETICS

BACKGROUND: Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations ref..

Malformations of cortical development: international consensus recommendations on diagnostic work-up

R Oegema, T Barakat, N Bahi-Buisson, E Aronica, V Conti, M Zaki, W Dobyns, A Fry, T Geis, D Gomez Andres, R Guerrini, U Hehr, A Jansen, R Leventer, D Amron, G Mirzaa, E Parrini, D Pilz, E Said, D Soler, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The spectrum of brain malformations and disruptions in twins

Kaylee B Park, Teresa Chapman, Kimberly A Aldinger, Ghayda M Mirzaa, Jordan Zeiger, Anita Beck, Ian A Glass, Robert F Hevner, Anna C Jansen, Desiree A Marshall, Renske Oegema, Elena Parrini, Russell P Saneto, Cynthia J Curry, Judith G Hall, Renzo Guerrini, Richard J Leventer, William B Dobyns

Journal article  |  2020  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed d..

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique RM Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris de Lange, Jing Zhang, Candace T Myers, Christina Fenger, Zaid Afawi, Edith P Almanza Fuerte, Danielle M Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F Bennett, Samuel F Berkovic, Bertrand Isidor, Arjan Bouman, Eva Brilstra, et al.

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), a..

Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy

Wei Shern Lee, Sarah EM Stephenson, Kate Pope, Greta Gillies, Wirginia Maixner, Emma Macdonald-Laurs, Duncan MacGregor, Colleen D'Arcy, Graeme Jackson, A Simon Harvey, Richard J Leventer, Paul J Lockhart

Journal article  |  2020  |  NEUROLOGY

OBJECTIVE: To determine the genetic basis of bottom-of-sulcus dysplasia (BOSD), which is a highly focal and epileptogenic cortical..

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Yanick J Crow, Heather Marshall, Gillian Rice, Luis Seabra, Emma M Jenkinson, Kristin Baranano, Roberta Battini, Andrea Berger, Edward Blair, Thomas Blauwblomme, Francois Bolduc, Natalie Boddaert, Johannes Buckard, Heather Burnett, Sophie Calvert, Roseline Caumes, Andy Cheuk-Him Ng, Diana Chiang, David B Clifford, Duccio M Cordelli, et al.

Journal article  |  2020  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC..

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations

Aglae Blauen, Chloe A Stutterd, Katrien Stouffs, Dana Dumitriu, Naima Deggouj, Paul J Lockhart, Richard J Leventer, Marie-Cecile Nassogne, Anna C Jansen

Journal article  |  2020  |  JOURNAL OF CHILD NEUROLOGY

Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modu..

Definitions and classification of malformations of cortical development: practical guidelines

Mariasavina Severino, Ana Filipa Geraldo, Norbert Utz, Domenico Tortora, Ivana Pogledic, Wlodzimierz Klonowski, Fabio Triulzi, Filippo Arrigoni, Kshitij Mankad, Richard J Leventer, Grazia MS Mancini, James A Barkovich, Maarten H Lequin, Andrea Rossi

Journal article  |  2020  |  BRAIN

Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy ..