Search Results - "LOCKHART, Paul"

Advancing the diagnosis of repeat expansion disorders by Lockhart, Paul J

“…Genomic technologies are transforming health care, with next-generation sequencing providing an important tool that underpins diagnostics, gene discovery, and…”
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Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair by Vaz, Bruno, Popovic, Marta, Newman, Joseph A., Fielden, John, Aitkenhead, Hazel, Halder, Swagata, Singh, Abhay Narayan, Vendrell, Iolanda, Fischer, Roman, Torrecilla, Ignacio, Drobnitzky, Neele, Freire, Raimundo, Amor, David J., Lockhart, Paul J., Kessler, Benedikt M., McKenna, Gillies W., Gileadi, Opher, Ramadan, Kristijan

“…The cytotoxicity of DNA-protein crosslinks (DPCs) is largely ascribed to their ability to block the progression of DNA replication. DPCs frequently occur in…”
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ASK1 inhibition: a therapeutic strategy with multi-system benefits by Ogier, Jacqueline M., Nayagam, Bryony A., Lockhart, Paul J.

“…p38 mitogen-activated protein kinases (P38α and β) and c-Jun N-terminal kinases (JNK1, 2, and 3) are key mediators of the cellular stress response. However,…”
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Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II by Lee, Wei Shern, Leventer, Richard J, Lockhart, Paul J

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Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2 by Lee, Wei Shern, Macdonald-Laurs, Emma, Stephenson, Sarah, D'Arcy, Colleen, Maixner, Wirginia, Harvey, A Simon, Lockhart, Paul J, Leventer, Richard J

“…To describe a child meeting diagnostic criteria for tuberous sclerosis complex (TSC) carrying a pathogenic somatic variant in , but no pathogenic variants in…”
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS by Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.

“…Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have…”
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Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data by Tankard, Rick M., Bennett, Mark F., Degorski, Peter, Delatycki, Martin B., Lockhart, Paul J., Bahlo, Melanie

“…Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic. These can present with overlapping clinical phenotypes, making molecular…”
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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology by Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.

“…Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. Genetic analysis of an…”
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Utility of droplet digital polymerase chain reaction for studying somatic mosaicism: brain malformations and beyond by Lee, Wei, Lockhart, Paul

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Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes by Gisatulin, Maria, Dobricic, Valerija, Zühlke, Christine, Hellenbroich, Yorck, Tadic, Vera, Münchau, Alexander, Isenhardt, Klaus, Bürk, Katrin, Bahlo, Melanie, Lockhart, Paul J., Lohmann, Katja, Helmchen, Christoph, Brüggemann, Norbert

“…To determine the clinical significance of an intronic biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 ( ) in…”
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14 by Rafehi, Haloom, Read, Justin, Szmulewicz, David J, Davies, Kayli C, Snell, Penny, Fearnley, Liam G, Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F, Munro, Jacob E, Ngo, Kathie J, Chen, Luke, Wallis, Mathew J, Butler, Ernest G, Kumar, Kishore R, Wu, Kathy Hc, Tomlinson, Susan E, Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A, Roberts, Leslie J, Fogel, Brent L, Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B, Bahlo, Melanie, Lockhart, Paul J

“…Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we…”
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Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors by Rivera, Barbara, Gayden, Tenzin, Carrot-Zhang, Jian, Nadaf, Javad, Boshari, Talia, Faury, Damien, Zeinieh, Michele, Blanc, Romeo, Burk, David L., Fahiminiya, Somayyeh, Bareke, Eric, Schüller, Ulrich, Monoranu, Camelia M., Sträter, Ronald, Kerl, Kornelius, Niederstadt, Thomas, Kurlemann, Gerhard, Ellezam, Benjamin, Michalak, Zuzanna, Thom, Maria, Lockhart, Paul J., Leventer, Richard J., Ohm, Milou, MacGregor, Duncan, Jones, David, Karamchandani, Jason, Greenwood, Celia M. T., Berghuis, Albert M., Bens, Susanne, Siebert, Reiner, Zakrzewska, Magdalena, Liberski, Pawel P., Zakrzewski, Krzysztof, Sisodiya, Sanjay M., Paulus, Werner, Albrecht, Steffen, Hasselblatt, Martin, Jabado, Nada, Foulkes, William D., Majewski, Jacek

“…Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor associated with intractable drug-resistant epilepsy. In order to identify underlying…”
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Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing by Spyrou, James, Aung, Khaing Phyu, Vanyai, Hannah, Leventer, Richard J., Maljevic, Snezana, Lockhart, Paul J., Howell, Katherine B., Reid, Christopher A.

“…Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an important cause of drug-resistant epilepsy. A significant…”
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The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease by Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Bozaoglu, Kiymet, Farrer, Matthew J., Lockhart, Paul J.

“…ABSTRACT The identification of pathogenic mutations in Ras analog in brain 39B (RAB39B) and Ras analog in brain 32 (RAB32) that cause Parkinson's disease (PD)…”
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Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing by Rafehi, Haloom, Green, Cherie, Bozaoglu, Kiymet, Gillies, Greta, Delatycki, Martin B, Lockhart, Paul J, Scheffer, Ingrid E, Bahlo, Melanie

“…Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect by…”
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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 by Sim, Joe C., Scerri, Thomas, Fanjul-Fernández, Miriam, Riseley, Jessica R., Gillies, Greta, Pope, Kate, van Roozendaal, Hanna, Heng, Julian I., Mandelstam, Simone A., McGillivray, George, MacGregor, Duncan, Kannan, Lakshminarayanan, Maixner, Wirginia, Harvey, A. Simon, Amor, David J., Delatycki, Martin B., Crino, Peter B., Bahlo, Melanie, Lockhart, Paul J., Leventer, Richard J.

“…We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole‐exome…”
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Refining analyses of copy number variation identifies specific genes associated with developmental delay by Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-Hoeijmakers, Janneke H, Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L, Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J, Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R F, Torchia, Beth S, Peeters, Hilde, Thompson, Elizabeth, O'Roak, Brian J, Fichera, Marco, Hehir-Kwa, Jayne Y, Shendure, Jay, Mefford, Heather C, Haan, Eric, Gécz, Jozef, de Vries, Bert B A, Romano, Corrado, Eichler, Evan E

“…Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate…”
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The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment by Donoghue, Sarah, Wright, Jordan, Voss, Anne K., Lockhart, Paul J., Amor, David J.

“…The Mendelian disorders of chromatin machinery (MDCMs) represent a distinct subgroup of disorders that present with neurodevelopmental disability. The…”
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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia by Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C

“…Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after…”
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Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy by Lee, Wei Shern, Stephenson, Sarah E.M., Pope, Kate, Gillies, Greta, Maixner, Wirginia, Macdonald-Laurs, Emma, MacGregor, Duncan, D'Arcy, Colleen, Jackson, Graeme, Harvey, A. Simon, Leventer, Richard J., Lockhart, Paul J.

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