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K

Katherine B. Howell

The Royal Children's Hospital Melbourne
H指数:34
被引数:5,029

个人简介

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教育背景

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工作经历

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荣誉奖项

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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
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

KCNQ2新生儿癫痫：及时诊断和治疗的影响，以及结局严重程度的早期预测因素

Epilepsia Open
IF2.9
2026-05-040
OAAI
Trupti Jadhav; Sophie E. Bouffler; Emily Innes; Michael Fahey; Matthew Hunter; Kavitha Kothur; Sebastian Lunke; Matthew Lynch; Emma Macdonald-Laurs; Elizabeth Emma Palmer; Chirag Patel; Jason Pinner; Kate Riney; Rani Sachdev; Sarah A. Sandaradura; Ingrid E. Scheffer; Zornitza Stark; Katherine B. Howell
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

SCN2A功能丧失的机制不能预测癫痫的存在或表型

Epilepsia
IF6.6
2026-02-050
OAAI
Marsha Tan; Beatrice Southby Goad; Meagan Allen; Jill Rodda; Kay L. Richards; Simone L. Ardern-Holmes; Daniel Bamborschke; Daniel Fritzen; Inna Hughes; Kate Riney; Ana Roche Martinez; Angelo Russo; Adriane Sinclair; Stefano Sartori; Marina Trivisano; Angela De Dominicis; Nicola Specchio; Rikke S. Møller; Ingrid E. Scheffer; Walid Fazeli; Markus Wolff; Steven Petrou; Katherine B. Howell; Géza Berecki
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

HCN2相关神经发育障碍：患者数据和爪蟾细胞模型数据

Annals of Neurology
IF7.7
2025-06-050
OAAI
Clara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

国际精准儿童健康伙伴关系（IPCHiP）：一项旨在加速罕见儿科疾病发现并改善其预后的倡议

NPJ GENOMIC MEDICINE
IF4.8
2025-02-270
OA
Howell, Katherine B.; White, Susan M.; Mctague, Amy; D'Gama, Alissa M.; Poduri, Annapurna; Scheffer, Ingrid E.; Chau, Vann; Smith, Lindsay D.; Stephenson, Sarah E. M.; Wojcik, Monica; Davidson, Andrew; Sliz, Piotr; Beggs, Alan H.; Chitty, Lyn S.; Cohn, Ronald D.; Marshall, Christian R.; Andrews, Nancy C.; North, Kathryn N.; Cross, J. Helen
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.
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)
ANNALS OF NEUROLOGY
IF7.7
2024-08-022
OAAI
Viswanathan, Sindhu; Oliver, Karen L.; Regan, Brigid M.; Schneider, Amy L.; Myers, Candace T.; Mehaffey, Michele G.; LaCroix, Amy J.; Antony, Jayne; Webster, Richard; Cardamone, Michael; Subramanian, Gopinath M.; Chiu, Annie T. G.; Roza, Eugenia; Teleanu, Raluca I.; Malone, Stephen; Leventer, Richard J.; Gill, Deepak; Berkovic, Samuel F.; Hildebrand, Michael S.; Goad, Beatrice S.; Howell, Katherine B.; Symonds, Joseph D.; Brunklaus, Andreas; Sadleir, Lynette G.; Zuberi, Sameer M.; Mefford, Heather C.; Scheffer, Ingrid E.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

SLC6A1变异致病性、分子功能和表型: 遗传和临床分析

BRAIN
IF11.7
2023-08-304
OAAI
Stefanski, Arthur; Perez-Palma, Eduardo; Bruenger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Kloeckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Angel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abuli, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Moller, Rikke S.; Lal, Dennis
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
ANNALS OF NEUROLOGY
IF7.7
2022-05-0713
OA
Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M.; Ewenczyk, Claire; Davies, Kayli C.; Lino-Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R. E.; van der Stelt, Ivo; Howell, Katherine B.; Coutelier, Marie; Amor, David J.; Mundwiller, Emeline; Guillot-Noel, Lena; Storey, Elsdon; Gardner, R. J. McKinlay; Wallis, Mathew J.; Brusco, Alfredo; Corti, Olga; Rotig, Agnes; Leventer, Richard J.; Brice, Alexis; Delatycki, Martin B.; Stevanin, Giovanni; Lockhart, Paul J.; Durr, Alexandra

研究方向

暂未获取到该数据
I
Ingrid E. Scheffer
H 指数:141论文数:1,049被引数:8.9万
R
Richard J. Leventer
H 指数:64论文数:251被引数:1.2万
P
Paul J. Lockhart
H 指数:53论文数:233被引数:1.2万
S
Samuel F. Berkovic
H 指数:145论文数:1,153被引数:8.0万
J
Jeremy L. Freeman
H 指数:63论文数:317被引数:1.2万
A
A. Simon Harvey
H 指数:57论文数:187被引数:1.0万
H
Heather C. Mefford
H 指数:72论文数:401被引数:2.3万
M
Mark T. Mackay
H 指数:61论文数:272被引数:7.1万
Z
Zornitza Stark
H 指数:52论文数:339被引数:1.1万
R
Rikke S. Møller
H 指数:78论文数:406被引数:2.1万