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Paul J. Lockhart

bruce lefroy centre for genetic health research

53H指数
233论文数
1.2W被引数
收录论文 119
发表时间
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Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy癫痫相关的皮质发育轻度畸形伴少突胶质细胞增生（MOGHE）：遗传学、机制与精准治疗
errActa Neuropathologica
IF9.3
err2026-08-02
err0
errOAAI
errJames Spyrou; Paul J. Lockhart; Snezana Maljevic; Katherine B. Howell; Christopher A. Reid
err分享
err收藏
DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related DiseaseDNA修复通路变异在具有biallelic AAGGG CANVAS和RFC1相关疾病的个体中富集
errMovement Disorders
IF7.6
err2026-07-29
err0
errOAAI
errXuemin Wang PhD; Liam G. Fearnley PhD; Kayli C. Davies PhD; Penny Snell MGenCouns; Stuart Lee PhD; Victoria E. Jackson PhD; Justin Read PhD; Michael Milton MDataSc; Ian H. Harding PhD; Martin B. Delatycki MBBS, PhD; David J. Szmulewicz FRACP, PhD; Paul J. Lockhart PhD; Melanie Bahlo PhD; Haloom Rafehi PhD
err分享
err收藏
Automated reanalysis of genomic data for rare disease diagnostics at scale大规模罕见疾病诊断的基因组数据自动化再分析
errNature Medicine
IF50
err2026-06-24
err0
errOAAI
errMatthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark
err分享
err收藏
Functional impact of genetic background on variable expressivity in neurodevelopmental disorders遗传背景对神经发育障碍中表型可变表达的功能影响
errNature Communications
IF15.7
err2026-05-01
err0
errOAAI
errJiawan Sun; Serena Noss; Corrine Smolen; Venkata Hemanjani Bhavana; Deepro Banerjee; Maitreya Das; Belinda Giardine; Anisha Prabhu; David J. Amor; Kate Pope; Paul J. Lockhart; Santhosh Girirajan
err分享
err收藏
Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation携带杂合游走-哈佛综合征SRCAP截断突变的两种四环素诱导的NGN2 iN iPSC系的生成
errStem Cell Research
IF0.7
err2026-02-01
err0
errOAAI
errKantor, Inbal; Wright, Jordan L.; Amor, David J.; Lockhart, Paul J.
err分享
err收藏
Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1同时重编程和基因校正以从神经纤维瘤病1型个体中生成六株iPSC系和等基因对照
errStem Cell Research
IF0.7
err2026-01-01
err0
errOAAI
errBozaoglu, Kiymet; Massie, Sarah; Irion, Friederike Elise; Davies, Kayli C.; Kantor, Inbal; Raabus, Mai; Haebich, Kristina M.; Vlahos, Katerina; Howden, Sara E.; Wright, Jordan; Payne, Jonathan M.; Lockhart, Paul J.
err分享
err收藏
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation双侧额叶室管膜下结节性异位：一种独特的皮层畸形
errEuropean Journal of Paediatric Neurology
IF2.3
err2025-12-01
err0
PREAI
errHoogwijs, Ine; Mandelstam, Simone A.; Mcgillivray, George; Halliday, Benjamin J.; Yiu, Eppie M.; Macdonald-Laurs, Emma; Perry, David; Patel, Rakesh; Gabbett, Michael; Patel, Chirag; Malone, Stephen; Fahey, Michael; Gill, Deepak; Field, Mike; Delatycki, Martin B.; Mohammad, Shekeeb; Berkovic, Samuel F.; Scheffer, Ingrid E.; Lockhart, Paul J.; Jackson, Graeme D.; Jansen, Anna C.; Robertson, Stephen P.; Leventer, Richard J.
err分享
err收藏
Genetic modifiers and ascertainment drive variable expressivity of complex disorders遗传修饰因子和病例发现方式驱动复杂疾病的表型可变性
errCell
IF42.5
err2025-10-07
err0
errOAAI
errMatthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
err分享
err收藏
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations由于怀疑局灶性脑畸形而需要手术的婴儿癫痫痉挛综合征的遗传景观和分类
errBRAIN COMMUNICATIONS
IF4.5
err2025-01-25
err0
errOAAI
errColeman, Matthew; Wang, Min; Snell, Penny; Lee, Wei Shern; D'Arcy, Colleen; Mignone, Cristina; Pope, Kate; Gillies, Greta; Maixner, Wirginia; Wray, Alison; Harvey, A. Simon; Simons, Cas; Leventer, Richard J.; Stephenson, Sarah E. M.; Lockhart, Paul J.; Howell, Katherine B.
err分享
err收藏
Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis
errMOLECULAR PSYCHIATRY
IF10.1
err2024-12-05
err0
PREAI
errPayne, Jonathan M.; Haebich, Kristina M.; Mitchell, Rebecca; Bozaoglu, Kiymet; Giliberto, Emma; Lockhart, Paul J.; Maier, Alice; Velasco, Silvia; Ball, Gareth; North, Kathryn N.; Hocking, Darren R.
err分享
err收藏
Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firingSlc35a2马赛克基因敲除影响皮质发育，树突化和神经元放电
errNEUROBIOLOGY OF DISEASE
IF5.6
err2024-10-01
err2
errOAAI
errSpyrou, James; Aung, Khaing Phyu; Vanyai, Hannah; Leventer, Richard J.; Maljevic, Snezana; Lockhart, Paul J.; Howell, Katherine B.; Reid, Christopher A.
err分享
err收藏
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)脊髓小脑性共济失调 (SCA27B) 的大型美国队列的临床，放射学和病理学特征
errANNALS OF NEUROLOGY
IF7.7
err2024-09-12
err4
errOAAI
errAbou Chaar, Widad; Eranki, Anirudh N.; Stevens, Hannah A.; Watson, Sonya L.; Wong, Darice Y.; Avila, Veronica S.; Delfeld, Megan; Gary, Alexander J.; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J.; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josee; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C.; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G.; Collins, John; Clark, H. Brent; Das, Soma; Fogel, Brent L.; Gomez, Christopher M.
err分享
err收藏
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err2
errOAAI
errDonoghue, Sarah; Wright, Jordan; Voss, Anne K.; Lockhart, Paul J.; Amor, David J.
err分享
err收藏
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies
errNEUROLOGY-GENETICS
IF3.7
err2024-04-01
err0
errOAAI
errColeman, Matthew; Pinares-Garcia, Paulo; Stephenson, Sarah E.; Lee, Wei Shern; Kooshavar, Daniz; Mclean, Catriona A.; Howell, Katherine B.; Leventer, Richard J.; Reid, Christopher A.; Lockhart, Paul J.
err分享
err收藏
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltZFX的变异与X连锁神经发育障碍相关，并伴有复发性面部格式塔
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-03-01
err4
errOAAI
errShepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan
err分享
err收藏
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations外显子组测序的诊断效用，然后对人脑畸形进行研究再分析
errBRAIN COMMUNICATIONS
IF4.5
err2024-02-28
err0
errOAAI
errKooshavar, Daniz; Amor, David J.; Boggs, Kirsten; Baker, Naomi; Barnett, Christopher; de Silva, Michelle G.; Edwards, Samantha; Fahey, Michael C.; Marum, Justine E.; Snell, Penny; Bozaoglu, Kiymet; Pope, Kate; Mohammad, Shekeeb S.; Riney, Kate; Sachdev, Rani; Scheffer, Ingrid E.; Schenscher, Sarah; Silberstein, John; Smith, Nicholas; Tom, Melanie; Ware, Tyson L.; Lockhart, Paul J.; Leventer, Richard J.
err分享
err收藏
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsFGF14 GAA扩张导致小脑共济失调的临床和遗传关键
errEBIOMEDICINE
IF10.8
err2024-01-01
err15
errOAAI
errMereaux, Jean-Loup; Davoine, Claire-Sophie; Pellerin, David; Coarelli, Giulia; Coutelier, Marie; Ewenczyk, Claire; Monin, Marie -Lorraine; Anheim, Mathieu; Le Ber, Isabelle; Thobois, Stephane; Gobert, Florent; Guillot-Noel, Lena; Forlani, Sylvie; Jornea, Ludmila; Heinzmann, Anna; Sangare, Aude; Gaymard, Bertrand; Guyant-Marechal, Lucie; Charles, Perrine; Marelli, Cecilia; Honnorat, Jerome; Degos, Bertrand; Tison, Francois; Sangla, Sophie; Simonetta-Moreau, Marion; Salachas, Francois; Tchikviladze, Maya; Castelnovo, Giovanni; Mochel, Fanny; Klebe, Stephan; Castrioto, Anna; Fenu, Silvia; Meneret, Aurelie; Bourdain, Frederic; Wandzel, Marion; Roth, Virginie; Bonnet, Celine; Riant, Florence; Stevanin, Giovanni; Noel, Sandrine; Fauret-Amsellem, Anne-Laure; Bahlo, Melanie; Lockhart, Paul J.; Brais, Bernard; Renaud, Mathilde; Brice, Alexis; Durra, Alexandra
err分享
err收藏
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants分类交配和亲本遗传相关性有助于可变表达变体的致病性
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-12-01
err4
errOAAI
errSmolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh
err分享
err收藏
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia沟底发育不良的临床、影像学、病理及遗传学研究
errBRAIN
IF11.7
err2023-11-06
err6
PREAI
errMacdonald-Laurs, Emma; Warren, Aaron E. L.; Francis, Peter; Mandelstam, Simone A.; Lee, Wei Shern; Coleman, Matthew; Stephenson, Sarah E. M.; Barton, Sarah; D'Arcy, Colleen; Lockhart, Paul J.; Leventer, Richard J.; Harvey, A. Simon
err分享
err收藏
Challenges facing repeat expansion identification, characterisation, and the pathway to discovery
errEMERGING TOPICS IN LIFE SCIENCES
IF3.3
err2023-10-27
err5
errOAAI
errRead, Justin L.; Davies, Kayli C.; Thompson, Genevieve C.; Delatycki, Martin B.; Lockhart, Paul J.
err分享
err收藏

研究方向

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合作学者
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D
Dennis W. Dickson
H 指数: 218 · 论文数: 2.3K
J
John Hardy
H 指数: 207 · 论文数: 1.9K
E
Evan E. Eichler
H 指数: 191 · 论文数: 864
N
Nahum Sonenberg
H 指数: 178 · 论文数: 957
J
Jay Shendure
H 指数: 167 · 论文数: 662
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