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T

Thomas Nalpathamkalam

The Hospital for Sick Children
H指数:22
被引数:4,713

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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GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations

GWAS SVatalog：一个用于辅助GWAS位点中结构变异精细定位的可视化工具

Heredity
IF3.9
2025-11-070
OAAI
Shalvi Chirmade; Zhuozhi Wang; Scott Mastromatteo; Eric Sanders; Bhooma Thiruvahindrapuram; Thomas Nalpathamkalam; Giovanna Pellecchia; Fan Lin; Katherine Keenan; Rohan V. Patel; Wilson WL Sung; Delnaz Roshandel; Joe Whitney; Sana Allana; Julie Avolio; Paul DW Eckford; Felix Ratjen; Lisa J. Strug
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

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-011
PRE
Mendes, 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.
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

NATURE GENETICS
IF31.8
2024-03-297
PRE
Fehlings, 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.
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy

在心肌病中扩展了全基因组增强子相关的串联重复序列

EBIOMEDICINE
IF10.8
2024-03-012
OAAI
Mitina, Aleksandra; Khan, Mahreen; Lesurf, Robert; Yin, Yue; Engchuan, Worrawat; Hamdan, Omar; Pellecchia, Giovanna; Trost, Brett; Backstrom, Ian; Guo, Keyi; Pallotto, Linda M.; Doong, Phoenix Hoi Lam; Wang, Zhuozhi; Nalpathamkalam, Thomas; Thiruvahindrapuram, Bhooma; Papaz, Tanya; Pearson, Christopher E.; Ragoussis, Jiannis; Subbarao, Padmaja; Azad, Meghan B.; Turvey, Stuart E.; Mandhane, Piushkumar; Moraes, Theo J.; Simons, Elinor; Scherer, Stephen W.; Lougheed, Jane; Mondal, Tapas; Smythe, John; Altamirano-Diaz, Luis; Oechslin, Erwin; Mital, Seema; Yuen, Ryan K. C.
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

HUMAN MOLECULAR GENETICS
IF3.2
2023-05-0811
OAAI
Zarrei, 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.
Whole Genome Sequencing to Resolve the Genomic Architecture of Cerebral Palsy in a Canadian Cohort
NEUROLOGY
IF8.5
2023-04-250
PRE
Oskoui, 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
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

全基因组罕见变异评分与自闭症谱系障碍形态学亚型的关联

NATURE COMMUNICATIONS
IF15.7
2022-10-2910
OAAI
Chan, Ada J. S.; Engchuan, Worrawat; Reuter, Miriam S.; Wang, Zhuozhi; Thiruvahindrapuram, Bhooma; Trost, Brett; Nalpathamkalam, Thomas; Negrijn, Carol; Lamoureux, Sylvia; Pellecchia, Giovanna; Patel, Rohan, V; Sung, Wilson W. L.; MacDonald, Jeffrey R.; Howe, Jennifer L.; Vorstman, Jacob; Sondheimer, Neal; Takahashi, Nicole; Miles, Judith H.; Anagnostou, Evdokia; Tammimies, Kristiina; Zarrei, Mehdi; Merico, Daniele; Stavropoulos, Dimitri J.; Yuen, Ryan K. C.; Fernandez, Bridget A.; Scherer, Stephen W.
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot

临床遗传风险变异为法洛四联症的功能性蛋白质互作网络提供信息

CIRCULATION-GENOMIC AND PRECISION MEDICINE
IF5.5
2021-08-0119
OA
Reuter, Miriam S.; Chaturvedi, Rajiv R.; Jobling, Rebekah K.; Pellecchia, Giovanna; Hamdan, Omar; Sung, Wilson W. L.; Nalpathamkalam, Thomas; Attaluri, Pratyusha; Silversides, Candice K.; Wald, Rachel M.; Marshall, Christian R.; Williams, Simon G.; Keavney, Bernard D.; Thiruvahindrapuram, Bhooma; Scherer, Stephen W.; Bassett, Anne S.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
GENETICS IN MEDICINE
IF6.2
2018-04-01386
OAAI
Lionel, Anath C.; Costain, Gregory; Monfared, Nasim; Walker, Susan; Reuter, Miriam S.; Hosseini, S. Mohsen; Thiruvahindrapuram, Bhooma; Merico, Daniele; Jobling, Rebekah; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Sung, Wilson W. L.; Wang, Zhuozhi; Bikangaga, Peter; Boelman, Cyrus; Carter, Melissa T.; Cordeiro, Dawn; Cytrynbaum, Cheryl; Dell, Sharon D.; Dhir, Priya; Dowling, James J.; Heon, Elise; Hewson, Stacy; Hiraki, Linda; Inbar-Feigenberg, Michal; Klatt, Regan; Kronick, Jonathan; Laxer, Ronald M.; Licht, Christoph; MacDonald, Heather; Mercimek-Andrews, Saadet; Mendoza-Londono, Roberto; Piscione, Tino; Schneider, Rayfel; Schulze, Andreas; Silverman, Earl; Siriwardena, Komudi; Snead, O. Carter; Sondheimer, Neal; Sutherland, Joanne; Vincent, Ajoy; Wasserman, Jonathan D.; Weksberg, Rosanna; Shuman, Cheryl; Carew, Chris; Szego, Michael J.; Hayeems, Robin Z.; Basran, Raveen; Stavropoulos, Dimitri J.; Ray, Peter N.; Bowdin, Sarah; Meyn, M. Stephen; Cohn, Ronald D.; Scherer, Stephen W.; Marshall, Christian R.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
CANADIAN MEDICAL ASSOCIATION JOURNAL
IF11.3
2018-02-0249
OAAI
Reuter, Miriam S.; Walker, Susan; Thiruvahindrapuram, Bhooma; Whitney, Joe; Cohn, Iris; Sondheimer, Neal; Yuen, Ryan K. C.; Trost, Brett; Paton, Tara A.; Pereira, Sergio L.; Herbrick, Jo-Anne; Wintle, Richard F.; Merico, Daniele; Howe, Jennifer; MacDonald, Jeffrey R.; Lu, Chao; Nalpathamkalam, Thomas; Sung, Wilson W. L.; Wang, Zhuozhi; Patel, Rohan V.; Pellecchia, Giovanna; Wei, John; Strug, Lisa J.; Bell, Sherilyn; Kellam, Barbara; Mahtani, Melanie M.; Bassett, Anne S.; Bombard, Yvonne; Weksberg, Rosanna; Shuman, Cheryl; Cohn, Ronald D.; Stavropoulos, Dimitri J.; Bowdin, Sarah; Hildebrandt, Matthew R.; Wei, Wei; Romm, Asli; Pasceri, Peter; Ellis, James; Ray, Peter; Meyn, M. Stephen; Monfared, Nasim; Hosseini, S. Mohsen; Joseph-George, Ann M.; Keeley, Fred W.; Cook, Ryan A.; Fiume, Marc; Lee, Hin C.; Marshall, Christian R.; Davies, Jill; Hazell, Allison; Buchanan, Janet A.; Szego, Michael J.; Scherer, Stephen W.
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

OTUD7A调节15 q13.3微缺失综合征的神经发育表型

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-02-0178
OAAI
Uddin, Mohammed; Unda, Brianna K.; Kwan, Vickie; Holzapfel, Nicholas T.; White, Sean H.; Chalil, Leon; Woodbury-Smith, Marc; Ho, Karen S.; Harward, Erin; Murtaza, Nadeem; Dave, Biren; Pellecchia, Giovanna; D'Abate, Lia; Nalpathamkalam, Thomas; Lamoureux, Sylvia; Wei, John; Speevak, Marsha; Stavropoulos, James; Hope, Kristin J.; Doble, Brad W.; Nielsen, Jacob; Wassman, E. Robert; Scherer, Stephen W.; Singh, Karun K.
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

拷贝数变异对发育延迟相关基因的索引效应

SCIENTIFIC REPORTS
IF3.9
2016-07-0130
OAAI
Uddin, Mohammed; Pellecchia, Giovanna; Thiruvahindrapuram, Bhooma; D'Abate, Lia; Merico, Daniele; Chan, Ada; Zarrei, Mehdi; Tammimies, Kristiina; Walker, Susan; Gazzellone, Matthew J.; Nalpathamkalam, Thomas; Yuen, Ryan K. C.; Devriendt, Koenraad; Mathonnet, Geraldine; Lemyre, Emmanuelle; Nizard, Sonia; Shago, Mary; Joseph-George, Ann M.; Noor, Abdul; Carter, Melissa T.; Yoon, Grace; Kannu, Peter; Tihy, Frederique; Thorland, Erik C.; Marshall, Christian R.; Buchanan, Janet A.; Speevak, Marsha; Stavropoulos, Dimitri J.; Scherer, Stephen W.
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
NATURE COMMUNICATIONS
IF15.7
2015-11-0297
OAAI
Merico, Daniele; Roifman, Maian; Braunschweig, Ulrich; Yuen, Ryan K. C.; Alexandrova, Roumiana; Bates, Andrea; Reid, Brenda; Nalpathamkalam, Thomas; Wang, Zhuozhi; Thiruvahindrapuram, Bhooma; Gray, Paul; Kakakios, Alyson; Peake, Jane; Hogarth, Stephanie; Manson, David; Buncic, Raymond; Pereira, Sergio L.; Herbrick, Jo-Anne; Blencowe, Benjamin J.; Roifman, Chaim M.; Scherer, Stephen W.
Whole-genome sequencing of quartet families with autism spectrum disorder

自闭症谱系障碍四重奏家庭的全基因组测序

NATURE MEDICINE
IF50
2015-01-26436
PREAI
Yuen, Ryan K. C.; Thiruvahindrapuram, Bhooma; Merico, Daniele; Walker, Susan; Tammimies, Kristiina; Hoang, Ny; Chrysler, Christina; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Liu, Yi; Gazzellone, Matthew J.; D'Abate, Lia; Deneault, Eric; Howe, Jennifer L.; Liu, Richard S. C.; Thompson, Ann; Zarrei, Mehdi; Uddin, Mohammed; Marshall, Christian R.; Ring, Robert H.; Zwaigenbaum, Lonnie; Ray, Peter N.; Weksberg, Rosanna; Carter, Melissa T.; Fernandez, Bridget A.; Roberts, Wendy; Szatmari, Peter; Scherer, Stephen W.
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

在自闭症谱系障碍中，纯化选择下的脑表达外显子富集了从头突变

NATURE GENETICS
IF31.8
2014-05-25137
PREAI
Uddin, Mohammed; Tammimies, Kristiina; Pellecchia, Giovanna; Alipanahi, Babak; Hui, Pingzhao; Wang, Zhuozhi; Pinto, Dalila; Lau, Lynette; Nalpathamkalam, Thomas; Marshall, Christian R.; Blencowe, Benjamin J.; Frey, Brendan J.; Merico, Daniele; Yuen, Ryan K. C.; Scherer, Stephen W.

研究方向

暂未获取到该数据
B
Bhooma Thiruvahindrapuram
H 指数:39论文数:176被引数:1.0万
S
Stephen W. Scherer
H 指数:161论文数:1,092被引数:11.9万
G
Giovanna Pellecchia
H 指数:38论文数:90被引数:8,701
D
Daniele Merico
H 指数:53论文数:185被引数:2.1万
R
Ryan K. C. Yuen
H 指数:47论文数:159被引数:1.7万
C
Christian R. Marshall
H 指数:76论文数:339被引数:3.6万
Z
Zhuozhi Wang
H 指数:23论文数:65被引数:5,708
J
Jennifer Howe
H 指数:33论文数:169被引数:1.0万
D
Dimitri J. Stavropoulos
H 指数:43论文数:134被引数:9,895
B
Brett Trost
H 指数:32论文数:158被引数:3,703