Paul Lockhart

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes.

Maria Gisatulin, Valerija Dobricic, Christine Zühlke, Yorck Hellenbroich, Vera Tadic, Alexander Münchau, Klaus Isenhardt, Katrin Bürk, Melanie Bahlo, Paul J Lockhart, Katja Lohmann, Christoph Helmchen, Norbert Brüggemann

Journal article  |  2020  |  Neurology

OBJECTIVE: To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding r..

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..

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Krysta J Trevis, Natasha J Brown, Cherie C Green, Paul J Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel PK Pua, Melanie Bahlo, Martin B Delatycki, Ingrid E Scheffer, Sarah J Wilson

Journal article  |  2020  |  International Journal of Molecular Sciences

Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implement..

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..

Prevalence of RFC1-Mediated Spinocerebellar Ataxia in a North American Ataxia Cohort

Dona Aboud Syriani, Darice Wong, Sameer Andani, Claudio M De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J Lockhart, Sharon Hassin-Baer, Vikram Khurana, Christopher M Gomez, Susan Perlman, Soma Das, Brent Fogel

Conference Proceedings  |  2020  |  ANNALS OF NEUROLOGY

Generation of four iPSC lines from Neurofibromatosis Type 1 patients.

Kiymet Bozaoglu, Wei Shern Lee, Kristina M Haebich, Kathryn N North, Jonathan M Payne, Paul J Lockhart

Journal article  |  2020  |  Stem Cell Research

We describe the generation and characterisation of four human induced pluripotent stem cell (iPSC) lines from peripheral blood mon..

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill A Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, et al.

Journal article  |  2020  |  Nature Communications

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the ..

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Johanna C Herkert, Judith MA Verhagen, Raquel Yotti, Alireza Haghighi, Dean G Phelan, Paul A James, Natasha J Brown, Chloe Stutterd, Ivan Macciocca, Kai'En Leong, Marian LC Bulthuis, Yolande van Bever, Marjon A van Slegtenhorst, Ludolf G Boven, Amy E Roberts, Radhika Agarwal, Jonathan Seidman, Neal K Lakdawala, Francisco Fernandez-Aviles, Michael A Burke, et al.

Journal article  |  2020  |  American Heart Journal

INTRODUCTION: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with man..

Genetic Analysis ofRAB39Bin an Early-Onset Parkinson's Disease Cohort

Yujing Gao, Gabrielle R Wilson, Nicholas Salce, Alexandra Romano, George D Mellick, Sarah EM Stephenson, Paul J Lockhart

Journal article  |  2020  |  Frontiers in Neurology

Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked ea..

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

Dona Aboud Syriani, Darice Wong, Sameer Andani, Claudio M De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J Lockhart, Sharon Hassin-Baer, Vikram Khurana, Christopher M Gomez, Susan Perlman, Soma Das, Brent L Fogel

Journal article  |  2020  |  Neurology Genetics

Objective: We evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adapt..