Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

by Yujing Gao, Yujing Gao, Gabrielle R. Wilson, Gabrielle R. Wilson, Nicholas Salce, Alexandra Romano, George D. Mellick, Sarah E. M. Stephenson, Sarah E. M. Stephenson, Paul J. Lockhart, Paul J. Lockhart
Published 2020-06-01

Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved]

by Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart
Published 2018-06-01

Generation of four iPSC lines from Neurofibromatosis Type 1 patients

by Kiymet Bozaoglu, Wei Shern Lee, Kristina M. Haebich, Kathryn N. North, Jonathan M. Payne, Paul J. Lockhart
Published 2020-12-01

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease

by Yujing Gao, Gabrielle R. Wilson, Kiymet Bozaoglu, Andrew G. Elefanty, Edouard G. Stanley, Mirella Dottori, Paul J. Lockhart
Published 2018-04-01

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

by Philip H. Iffland, II, Marianna Baybis, Allan E. Barnes, Richard J. Leventer, Paul J. Lockhart, Peter B. Crino
Published 2018-06-01

Long range regulation of human FXN gene expression.

by Novita Puspasari, Simone M Rowley, Lavinia Gordon, Paul J Lockhart, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero
Published 2011-01-01

Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases

by Juliet M. Taylor, Yun Ju C. Song, Yue Huang, Matthew J. Farrer, Martin B. Delatycki, Glenda M. Halliday, Paul J. Lockhart
Published 2007-08-01

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

by Sarah E. M. Stephenson, Timothy D. Aumann, Juliet M. Taylor, Jessica R. Riseley, Ruili Li, Jeffrey R. Mann, Doris Tomas, Paul J. Lockhart
Published 2018-05-01

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults

by Katerina Vlahos, Koula Sourris, Robyn Mayberry, Penelope McDonald, Freya F. Bruveris, Jacqueline V. Schiesser, Kiymet Bozaoglu, Paul J. Lockhart, Edouard G. Stanley, Andrew G. Elefanty
Published 2019-01-01

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

by Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Published 2021-02-01

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

by Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernández, Natasha J. Brown, Kate Pope, Cherie C. Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J. Lockhart
Published 2019-08-01

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

by Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart
Published 2020-03-01

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

by Krysta J. Trevis, Natasha J. Brown, Cherie C. Green, Paul J. Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel P. K. Pua, Melanie Bahlo, Martin B. Delatycki, Ingrid E. Scheffer, Sarah J. Wilson
Published 2020-10-01

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

by Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer
Published 2019-07-01

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans

by Ronan V. da Silva, Helge C. Johannssen, Matthias T. Wyss, R. Brian Roome, Farin B. Bourojeni, Nicolas Stifani, Ashley P.L. Marsh, Monique M. Ryan, Paul J. Lockhart, Richard J. Leventer, Linda J. Richards, Bernard Rosenblatt, Myriam Srour, Bruno Weber, Hanns Ulrich Zeilhofer, Artur Kania
Published 2018-01-01

Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures

by Julia W. Chang, Samuel D. Reyes, Emmanuelle Faure-Kumar, Sandi K. Lam, Michael W. Lawlor, Richard J. Leventer, Sean M. Lew, Paul J. Lockhart, Kathryn Pope, Howard L. Weiner, Noriko Salamon, Harry V. Vinters, Gary W. Mathern, Aria Fallah, Aria Fallah, Geoffrey C. Owens
Published 2021-04-01

DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation

by Laura Morcom, Ilan Gobius, Ashley PL Marsh, Rodrigo Suárez, Jonathan WC Lim, Caitlin Bridges, Yunan Ye, Laura R Fenlon, Yvrick Zagar, Amelia M Douglass, Amber-Lee S Donahoo, Thomas Fothergill, Samreen Shaikh, Peter Kozulin, Timothy J Edwards, Helen M Cooper, IRC5 Consortium, Elliott H Sherr, Alain Chédotal, Richard J Leventer, Paul J Lockhart, Linda J Richards
Published 2021-04-01

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by 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, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by 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, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01