Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Paul J. Lockhart"'
Autor:
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope, Penny Snell, Paul J. Lockhart, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Giuseppa Maria Luana Mandara, Maria Grazia Bruccheri, Olivier Pichon, Cedric Le Caignec, Radka Stoeva, Silvestre Cuinat, Sandra Mercier, Claire Beneteau, Sophie Blesson, Ashley Nordsletten, Dominique Martin-Coignard, Erik Sistermans, R. Frank Kooy, David J. Amor, Corrado Romano, Bertrand Isidor, Jane Juusola, Santhosh Girirajan
Publikováno v:
medRxiv
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in children. We identified correlations b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16abc621e8896a2a8b4693832e9d8dc5
https://europepmc.org/articles/PMC10246151/
https://europepmc.org/articles/PMC10246151/
Autor:
Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally A. Lynch, Aditi Gupta, Kristen J. Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine E. Agre, Ilana Chilton, Wendy K. Chung, Anya Revah-Politi, P.Y. Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange-line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua J. Baker, Ingrid E. Scheffer, Fiona J. Gardiner, Amy L. Schneider, Alison M. Muir, Heather C. Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J. Amor, Jessica O. Boyce, Angela T. Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher, Annette Schenck, Paul J. Lockhart, John Christodoulou, Tiong Yang Tan
Publikováno v:
TUDP Study Group & Broad Center for Mendelian Genomics 2022, ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86d68479414d6d44e2d08be3692959a
https://doi.org/10.1016/j.ajhg.2022.03.002
https://doi.org/10.1016/j.ajhg.2022.03.002
Autor:
Greta Gillies, Keri Finlay, Hayley S. Mountford, Peter Hickey, Ingrid E. Scheffer, Vesna Lukic, Bradley P. Coe, Kiymet Bozaoglu, Melanie Bahlo, Haloom Rafehi, Audrey Rattray, Paul J. Lockhart, Natasha J Brown, Dana Alhuzaimi, Tanya Vick, Miriam Fanjul-Fernández, Cherie C Green, Sarah J. Wilson, Martin B. Delatycki, Savannah Young, Evan E. Eichler, Peter Diakumis
Publikováno v:
Hum Mutat
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1061e3918e4b875e007635c67e625a48
https://europepmc.org/articles/PMC8720068/
https://europepmc.org/articles/PMC8720068/
Autor:
Paul J. Lockhart, Cherie C Green, Krysta J Trevis, Tarishi Desai, Martin B. Delatycki, Natasha J Brown, Sarah J. Wilson, Emmanuel Peng Kiat Pua, Melanie Bahlo, Ingrid E. Scheffer, Vicki Anderson, Tanya Vick
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 7965, p 7965 (2020)
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 7965, p 7965 (2020)
Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the &ldquo
Broader Autism Phenotype&rdquo
(BAP) in large multiplex ASD families usi
Broader Autism Phenotype&rdquo
(BAP) in large multiplex ASD families usi
Autor:
Richard J. Leventer, Paul J. Lockhart, Allan E. Barnes, Marianna Baybis, Peter B. Crino, Philip H. Iffland
Publikováno v:
Neurobiology of Disease, Vol 114, Iss, Pp 184-193 (2018)
Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). Brain specimens from these individuals reveal abnormal cortical lamination, altered ce
Autor:
Michele G. Mehaffey, Mei-Feng Wu, Edith P. Almanza Fuerte, Laura A. Jansen, Ingrid E. Scheffer, Wen-Hung Chung, Michael S. Hildebrand, Meng-Han Tsai, Paul J. Lockhart, Richard J. Leventer, Wen-Lang Fan, Heather C Mefford, Ying-Chao Chang, Chung-Kin Chan, Nian-Hsin Chao, Alison M. Muir, William B. Dobyns, Shih-Chi Su, Kheng Seang Lim, Guillaume Sébire, Nicolas Deconinck, Won Jing Wang, Ching Ching Ng, Kate Riney, Kun-Chuan Yang, Samuel F. Berkovic, Jin Wu Tsai, John A. Damiano, Yi-Ning Kang, Brenda E. Porter, Ghayda M. Mirzaa
Publikováno v:
Neuron
Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predomin
Autor:
Ryan J. Taft, Richard J. Leventer, Paul J. Lockhart, Heidi Peters, Cas Simons, Adeline Vanderver, M.S. van der Knaap, Nicole J. Lake, David R. Thorburn, Chloe A Stutterd
Publikováno v:
JIMD Reports, 43, 63-70
JIMD Reports ISBN: 9783662586136
Stutterd, C A, Lake, N J, Peters, H, Lockhart, P J, Taft, R J, van der Knaap, M S, Vanderver, A, Thorburn, D R, Simons, C & Leventer, R J 2019, Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations . in E Morava (ed.), JIMD Reports : Volume 43 . vol. 43, JIMD Reports, vol. 43, Springer, pp. 63-70 . https://doi.org/10.1007/8904_2018_100
JIMD Reports: Volume 43, 43, 63-70
Stutterd, C A, Lake, N J, Peters, H, Lockhart, P J, Taft, R J, van der Knaap, M S, Vanderver, A, Thorburn, D R, Simons, C & Leventer, R J 2019, Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations . in JIMD Reports . vol. 43, JIMD Reports, Springer, pp. 63-70 . https://doi.org/10.1007/8904_2018_100
JIMD Reports ISBN: 9783662586136
Stutterd, C A, Lake, N J, Peters, H, Lockhart, P J, Taft, R J, van der Knaap, M S, Vanderver, A, Thorburn, D R, Simons, C & Leventer, R J 2019, Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations . in E Morava (ed.), JIMD Reports : Volume 43 . vol. 43, JIMD Reports, vol. 43, Springer, pp. 63-70 . https://doi.org/10.1007/8904_2018_100
JIMD Reports: Volume 43, 43, 63-70
Stutterd, C A, Lake, N J, Peters, H, Lockhart, P J, Taft, R J, van der Knaap, M S, Vanderver, A, Thorburn, D R, Simons, C & Leventer, R J 2019, Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations . in JIMD Reports . vol. 43, JIMD Reports, Springer, pp. 63-70 . https://doi.org/10.1007/8904_2018_100
Aim: To identify the genetic aetiology of a distinct leukoencephalopathy causing acute neurological regression in infancy with apparently complete clinical recovery. Methods: We performed trio whole genome sequencing (WGS) to determine the genetic ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ffda23cad0d2bd4e29ad305ae8a60c4
https://doi.org/10.1007/8904_2018_100
https://doi.org/10.1007/8904_2018_100
Autor:
Susan Perlman, Darice Wong, Paul J. Lockhart, Dona Aboud Syriani, Brent L. Fogel, Christopher M. Gomez, Vikram Khurana, Soma Das, Claudio M. de Gusmao, Yuanming Mao, May Sanyoura, Sharon Hassin-Baer, Sameer Andani, Giacomo Glotzer
Publikováno v:
Neurology: Genetics
ObjectiveWe evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America.MethodsA cohort of 596 predominantly adult-onset pa
Autor:
Michael S, Hildebrand, A Simon, Harvey, Stephen, Malone, John A, Damiano, Hongdo, Do, Zimeng, Ye, Lara, McQuillan, Wirginia, Maixner, Renate, Kalnins, Bernadette, Nolan, Martin, Wood, Ezgi, Ozturk, Nigel C, Jones, Greta, Gillies, Kate, Pope, Paul J, Lockhart, Alexander, Dobrovic, Richard J, Leventer, Ingrid E, Scheffer, Samuel F, Berkovic
Publikováno v:
Neurology: Genetics
Objective To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. Methods We used sensitive droplet digital PCR (ddPCR) to detect and quantify the
Autor:
Ruili Li, Jessica R. Riseley, Tim D. Aumann, Jeffrey R. Mann, Sarah E.M. Stephenson, Doris Tomas, Juliet M. Taylor, Paul J. Lockhart
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Mutations in PARK2 (parkin) can result in Parkinson’s disease (PD). Parkin shares a bidirectional promoter with parkin coregulated gene (PACRG) and the transcriptional start sites are separated by only ~200 bp. Bidirectionally regulated genes have