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P

Paul J. Lockhart

Murdoch Children's Research Institute
H指数:53
被引数:1.2万

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Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B : A Multisite MRI ‐Based Study

脊髓小脑共济失调27B型的大脑和脊髓结构特征：一项多中心MRI研究

Movement Disorders
IF7.6
2026-09-280
OA
Nadson Bruno Serra Santos; Camila Caroso Lobo; Thiago Junqueira Ribeiro Rezende; Alberto Rolim Muro Martinez; Luiza A. Corazza; Luiz Eduardo Novis; Orlando Graziani Povoas Barsottini; José Luiz Pedroso; Pedro José Tomaselli; Wilson Marques; Antônio Carlos dos Santos; David Pellerin; Bernard Brais; Roberta La Piana; Jemimah Harding; Penny Snell; Paul J. Lockhart; David Szmulewicz; Ian H. Harding; Marcondes Cavalcante França Jr
DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease

DNA修复通路变异在具有biallelic AAGGG CANVAS和RFC1相关疾病的个体中富集

Movement Disorders
IF7.6
2026-07-290
OAAI
Xuemin 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
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

Nature Medicine
IF50
2026-06-240
OAAI
Matthew 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
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

Stem Cell Research
IF0.7
2026-01-010
OAAI
Bozaoglu, 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.
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

European Journal of Paediatric Neurology
IF2.3
2025-12-010
PRE
Hoogwijs, 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.
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

Cell
IF42.5
2025-10-070
OAAI
Matthew 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
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

BRAIN COMMUNICATIONS
IF4.5
2025-01-250
OAAI
Coleman, 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.
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

ANNALS OF NEUROLOGY
IF7.7
2024-09-124
OA
Abou 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.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

ZFX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

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-03-014
OAAI
Shepherdson, 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
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

BRAIN COMMUNICATIONS
IF4.5
2024-02-280
OAAI
Kooshavar, 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.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

FGF14 GAA扩张导致小脑共济失调的临床和遗传关键

EBIOMEDICINE
IF10.8
2024-01-0115
OAAI
Mereaux, 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
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

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-12-014
OAAI
Smolen, 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

研究方向

暂未获取到该数据
R
Richard J. Leventer
H 指数:64论文数:251被引数:1.2万
M
Martin B. Delatycki
H 指数:70论文数:525被引数:1.7万
M
Melanie Bahlo
H 指数:76论文数:479被引数:2.1万
K
Kate Pope
H 指数:29论文数:65被引数:3,191
D
David J. Amor
H 指数:72论文数:505被引数:2.0万
S
Sarah Stephenson
H 指数:20论文数:73被引数:1,680
I
Ingrid E. Scheffer
H 指数:141论文数:1,049被引数:8.9万
G
Greta Gillies
H 指数:18论文数:55被引数:1,845
M
Matthew J. Farrer
H 指数:101论文数:534被引数:4.6万
A
A. Simon Harvey
H 指数:57论文数:187被引数:1.0万