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J

Jennifer Howe

hospital for sick children (sickkids)

33H指数
169论文数
1.1W被引数
收录论文 51
发表时间
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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaDENND2B基因的变异与神经发育障碍、精神病和紧张症的易感性相关。Brain
errBrain
IF11.7
err2026-01-01
err1
PREAI
errMurthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
err分享
err收藏
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature自闭症谱系障碍和智力障碍中UBR5功能丧失性变异：病例系列及文献综述
errnpj Genomic Medicine
IF4.8
err2025-11-29
err0
errOAAI
errMiriam S. Reuter; Nelson Bautista Salazar; Jennifer L. Howe; Ny Hoang; Ege Sarikaya; Thanuja Selvanayagam; Marla Mendes de Aquino; Astrid M. Vicente; Guiomar Oliveira; Christine M. Freitag; Bhooma Thiruvahindrapuram; Brett Trost; Stephen W. Scherer
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err收藏
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderKDM6B相关的神经发育障碍的临床与分子谱
errThe American Journal of Human Genetics
IF0
err2025-10-18
err0
PREAI
errDmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
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Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes人源iPSC来源的谷氨酸能神经元携带致病性KCNQ2变异体，表现出过度活跃的爆发性表型
errNeurobiology of Disease
IF5.6
err2025-09-25
err0
errOAAI
errMaria Sundberg; Carole Shum; Erika Norabuena; Nina R. Makhortova; Cidi Chen; Lucy Yu; Emma V. Wightman; Kristina Kim; Sang Yeon Han; Jennifer Howe; Annapurna Poduri; Elizabeth D. Buttermore; Stephen W. Scherer; Mustafa Sahin
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err收藏
Recombinant ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) decreases vascular calcification and prevents osteomalacia in a rat model of chronic kidney disease重组外核苷酸焦磷酸酶/磷酸二酯酶1（ENPP1）可降低慢性肾病大鼠模型中的血管钙化并预防骨软化症。
errJBMR PLUS
IF2.4
err2025-04-16
err0
errOAAI
errO'Brien, Kevin; Laurion, Lisa; Sullivan, Caitlin; Howe, Jennifer; Lynch, Angela Malin; Cheng, Zhiliang; Schrier, Denis; Husson, Herve; Sabbagh, Yves
err分享
err收藏
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study基因组测序在自闭症中的临床应用: 来自基因组研究的说明性示例
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2025-04-01
err0
PREAI
errSelvanayagam, Thanuja; Hoang, Ny; Sarikaya, Ege; Howe, Jennifer; Russell, Carolyn; Iaboni, Alana; Quirbach, Morgan; Marshall, Christian R.; Szatmari, Peter; Anagnostou, Evdokia; Vorstman, Jacob; Hartley, Dean M.; Scherer, Stephen W.
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err收藏
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusDDX53的遗传变异导致与Xp22.11基因座相关的自闭症谱系障碍
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
PREAI
errScala, Marcello; Bradley, Clarrisa A.; Howe, Jennifer L.; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S.; Anagnostou, Evdokia; Macdonald, Jeffrey R.; Ko, Sangyoon Y.; Frankland, Paul W.; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F.; Lusk, Laina; Mcdonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni, V; Undiagnosed Dis Network, Undiagnosed Diseases; Douine, Emilie D.; Corona, Rosario Ivetth; Russell, Bianca E.; Nelson, Stanley F.; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W.
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err收藏
Chromosome X-wide common variant association study in autism spectrum disorder孤独症谱系障碍X染色体全共变异关联研究
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err1
PREAI
errMendes, Marla; Chen, Desmond Zeya; Engchuan, Worrawat; Leal, Thiago Peixoto; Thiruvahindrapuram, Bhooma; Trost, Brett; Howe, Jennifer L.; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Alexandrova, Roumiana; Salazar, Nelson Bautista; Mckee, Ethan A.; Rivera-Alfaro, Natalia; Lai, Meng-Chuan; Bandres-Ciga, Sara; Roshandel, Delnaz; Bradley, Clarrisa A.; Anagnostou, Evdokia; Sun, Lei; Scherer, Stephen W.
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err收藏
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing使用长读基因组测序解决自闭症谱系障碍中的复杂重复变异
errGENOME RESEARCH
IF5.5
err2024-10-29
err0
errOAAI
errEisfeldt, Jesper; Higginbotham, Edward J.; Lenner, Felix; Howe, Jennifer; Fernandez, Bridget A.; Lindstrand, Anna; Scherer, Stephen W.; Feuk, Lars
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err收藏
ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia
errJBMR PLUS
IF2.4
err2024-08-08
err1
errOAAI
errReichenberger, Ernst J.; O'Brien, Kevin; Hatori, Ayano; Carpenter, Thomas O.; van de Wetering, Koen; Flaman, Lisa; Howe, Jennifer; Ortiz, Daniel; Sabbagh, Yves; Chen, I-Ping
err分享
err收藏
Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis
errCELLS
IF5.2
err2024-06-29
err1
errOAAI
errTchernychev, Boris; Nitschke, Yvonne; Chu, Di; Sullivan, Caitlin; Flaman, Lisa; O'Brien, Kevin; Howe, Jennifer; Cheng, Zhiliang; Thompson, David; Ortiz, Daniel; Rutsch, Frank; Sabbagh, Yves
err分享
err收藏
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disordersPLAA相关神经发育障碍中的等位基因异质性和异常囊泡回收
errFRONTIERS IN MOLECULAR NEUROSCIENCE
IF3.8
err2024-04-08
err0
errOAAI
errIacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W.; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo
err分享
err收藏
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy全面的全基因组序列分析提供了对脑瘫基因组结构的见解
errNATURE GENETICS
IF31.8
err2024-03-29
err7
PREAI
errFehlings, Darcy L.; Zarrei, Mehdi; Engchuan, Worrawat; Sondheimer, Neal; Thiruvahindrapuram, Bhooma; MacDonald, Jeffrey R.; Higginbotham, Edward J.; Thapa, Ritesh; Behlim, Tarannum; Aimola, Sabrina; Switzer, Lauren; Ng, Pamela; Wei, John; Danthi, Prakroothi S.; Pellecchia, Giovanna; Lamoureux, Sylvia; Ho, Karen; Pereira, Sergio L.; de Rijke, Jill; Sung, Wilson W. L.; Mowjoodi, Alireza; Howe, Jennifer L.; Nalpathamkalam, Thomas; Manshaei, Roozbeh; Ghaffari, Siavash; Whitney, Joseph; Patel, Rohan V.; Hamdan, Omar; Shaath, Rulan; Trost, Brett; Knights, Shannon; Samdup, Dawa; McCormick, Anna; Hunt, Carolyn; Kirton, Adam; Kawamura, Anne; Mesterman, Ronit; Gorter, Jan Willem; Dlamini, Nomazulu; Merico, Daniele; Hilali, Murto; Hirschfeld, Kyle; Grover, Kritika; Bautista, Nelson X.; Han, Kara; Marshall, Christian R.; Yuen, Ryan K. C.; Subbarao, Padmaja; Azad, Meghan B.; Turvey, Stuart E.; Mandhane, Piush; Moraes, Theo J.; Simons, Elinor; Maxwell, George; Shevell, Michael; Costain, Gregory; Michaud, Jacques L.; Hamdan, Fadi F.; Gauthier, Julie; Uguen, Kevin; Stavropoulos, Dimitri J.; Wintle, Richard F.; Oskoui, Maryam; Scherer, Stephen W.
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err收藏
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study卡塔尔自闭症谱系障碍的基因组结构: 巴拉卡-卡塔尔研究
errGENOME MEDICINE
IF11.2
err2023-10-07
err8
errOAAI
errAbdi, Mona; Aliyev, Elbay; Trost, Brett; Kohailan, Muhammad; Aamer, Waleed; Syed, Najeeb; Shaath, Rulan; Gandhi, Geethanjali Devadoss; Engchuan, Worrawat; Howe, Jennifer; Thiruvahindrapuram, Bhooma; Geng, Melissa; Whitney, Joe; Syed, Amira; Lakshmi, Jyothi; Hussein, Sura; Albashir, Najwa; Hussein, Amal; Poggiolini, Ilaria; Elhag, Saba F.; Palaniswamy, Sasirekha; Kambouris, Marios; Janjua, Maria de Fatima; El Tahir, Mohamed O.; Nazeer, Ahsan; Shahwar, Durre; Azeem, Muhammad Waqar; Mokrab, Younes; Aati, Nazim Abdel; Akil, Ammira; Scherer, Stephen W.; Kamal, Madeeha; Fakhro, Khalid A.
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err收藏
Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study自闭症全基因组测序与行政健康数据的联系: 概念研究的证明
errAUTISM RESEARCH
IF5.6
err2023-08-01
err0
errOAAI
errBaribeau, Danielle A.; Arneja, Jasleen; Wang, Xuesong; Howe, Jennifer; McLaughlin, John R.; Tu, Karen; Guan, Jun; Iaboni, Alana; Kelley, Elizabeth; Ayub, Muhammad; Nicolson, Robert; Georgiades, Stelios; Scherer, Stephen W.; Bronskill, Susan E.; Anagnostou, Evdokia; Brooks, Jennifer D.
err分享
err收藏
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples跨代家族和神经发育确定的样本中16 p11.2远端BP2-BP3缺失的表型变异性
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-06-08
err1
errOAAI
errWoodbury-Smith, Marc; D'Abate, Lia; Stavropoulos, Dimitri J.; Howe, Jennifer; Drmic, Irene; Hoang, Ny; Zarrei, Mehdi; Trost, Brett; Iaboni, Alana; Anagnostou, Evdokia; Scherer, Stephen W.
err分享
err收藏
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderKDM6B-related神经发育障碍的临床和分子谱
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-06-01
err11
errOAAI
errRots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, Tjitske
err分享
err收藏
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksANK2功能丧失变体与癫痫相关，并导致hiPSC衍生的神经元网络中轴突初始节段可塑性受损和过度活跃的网络活动
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-05-17
err8
errOAAI
errTeunissen, Maria W. A.; Lewerissa, Elly; van Hugte, Eline J. H.; Wang, Shan; Ockeloen, Charlotte W.; Koolen, David A.; Pfundt, Rolph; Marcelis, Carlo L. M.; Brilstra, Eva; Howe, Jennifer L.; Scherer, Stephen W.; Le Guillou, Xavier; Bilan, Frederic; Primiano, Michelle; Roohi, Jasmin; Piton, Amelie; de Saint Martin, Anne; Baer, Sarah; Seiffert, Simone; Platzer, Konrad; Jamra, Rami Abou; Syrbe, Steffen; Doering, Jan H.; Lakhani, Shenela; Nangia, Srishti; Gilissen, Christian; Vermeulen, R. Jeroen; Rouhl, Rob P. W.; Brunner, Han G.; Willemsen, Marjolein H.; Kasri, Nael Nadif
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err收藏
Gene copy number variation and pediatric mental health/neurodevelopment in a general population一般人群的基因拷贝数变异和儿科精神卫生/神经发育
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-05-08
err11
errOAAI
errZarrei, Mehdi; Burton, Christie L.; Engchuan, Worrawat; Higginbotham, Edward J.; Wei, John; Shaikh, Sabah; Roslin, Nicole M.; MacDonald, Jeffrey R.; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Lamoureux, Sylvia; Manshaei, Roozbeh; Howe, Jennifer; Trost, Brett; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Yuen, Ryan K. C.; Wintle, Richard F.; Strug, Lisa J.; Stavropoulos, Dimitri J.; Vorstman, Jacob A. S.; Arnold, Paul; Merico, Daniele; Woodbury-Smith, Marc; Crosbie, Jennifer; Schachar, Russell J.; Scherer, Stephen W.
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err收藏
Whole Genome Sequencing to Resolve the Genomic Architecture of Cerebral Palsy in a Canadian Cohort
errNEUROLOGY
IF8.5
err2023-04-25
err0
PREAI
errOskoui, Maryam; Zarrei, Mehdi; Engchuan, Worrawat; Sondheimer, Neal; Thiruv, Bhooma; Higginbotham, Edward; Thapa, Ritesh; Behlim, Tarannum; Aimola, Sabrina; Wei, John; Danthi, Prakroothi; Pellecchia, Giovanna; Ho, Karen; de Rijke, Jill; Howe, Jennifer; Nalpathamkalam, Thomas; Manshaei, Roozbeh; Whitney, Joseph; Patel, Rohan; Hamdan, Omar; Shaath, Rulan; Knights, Shannon; Trost, Brett; Samdup, Dawa; Mccormick, Anna; Hunt, Carolyn; Kirton, Adam; Kawamura, Anne; Mesterman, Ronit; Gorter, Jan Willem; Dlamini, Nomazulu; Merico, Daniele; Yuen, Ryan; Shevell, Michael; Stavropoulos, Dimitri; Wintle, Richard; Fehlings, Darcy; Scherer, Stephen
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研究方向

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合作学者
合作期刊
王
王军 (Jun Wang)
H 指数: 222 · 论文数: 3.2K
S
Stefan Schreiber
H 指数: 192 · 论文数: 1.9K
E
Evan E. Eichler
H 指数: 191 · 论文数: 864
R
Richard A. Gibbs
H 指数: 190 · 论文数: 1.3K
D
Daniel H. Geschwind
H 指数: 188 · 论文数: 968
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