A citation-based method for searching scientific literature

Brett Trost, Susan Walker, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Wilson W L Sung, Sergio L Pereira, Joe Whitney, Ada J S Chan, Giovanna Pellecchia, Miriam S Reuter, Si Lok, Ryan K C Yuen, Christian R Marshall, Daniele Merico, Stephen W Scherer. Am J Hum Genet 2018
Times Cited: 78



Ryan K C Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A Buchanan, Susan Walker, Christian R Marshall, Mohammed Uddin, Mehdi Zarrei, Eric Deneault, Lia D'Abate, Ada J S Chan, Stephanie Koyanagi, Tara Paton, Sergio L Pereira, Ny Hoang, Worrawat Engchuan, Edward J Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R MacDonald, Thomas Nalpathamkalam, Wilson W L Sung, Fiona J Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury-Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy Doyle-Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion-Lemieux, Isabel M Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H Cook, Stephen Dager, Annette Estes, Louise Gallagher, Beth A Malow, Jeremy R Parr, Sarah J Spence, Jacob Vorstman, Brendan J Frey, James T Robinson, Lisa J Strug, Bridget A Fernandez, Mayada Elsabbagh, Melissa T Carter, Joachim Hallmayer, Bartha M Knoppers, Evdokia Anagnostou, Peter Szatmari, Robert H Ring, David Glazer, Mathew T Pletcher, Stephen W Scherer. Nat Neurosci 2017
Times Cited: 352




List of shared articles



Times cited

A large data resource of genomic copy number variation across neurodevelopmental disorders.
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edwin J Young, Edward J Higginbotham, Jeffrey R MacDonald, Brett Trost, Ada J S Chan, Susan Walker, Sylvia Lamoureux,[...]. NPJ Genom Med 2019
35

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Guillaume Huguet, Catherine Schramm, Elise Douard, Petra Tamer, Antoine Main, Pauline Monin, Jade England, Khadije Jizi, Thomas Renne, Myriam Poirier,[...]. Mol Psychiatry 2021
5

A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Meredith Curtis, Danielle Baribeau, Susan Walker, Melissa Carter, Gregory Costain, Sylvia Lamoureux, Eriskay Liston, Christian R Marshall, Miriam S Reuter, Meaghan Snell,[...]. Am J Med Genet A 2020
1

Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
Julieta Lazarte, Zachary W Laksman, Jian Wang, John F Robinson, Jacqueline S Dron, Emma Leach, Janet Liew, Adam D McIntyre, Allan C Skanes, Lorne J Gula,[...]. Europace 2021
1

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.
Amarilla B Mandola, Nigel Sharfe, Zahra Nagdi, Harjit Dadi, Linda Vong, Daniele Merico, Bo Ngan, Brenda Reid, Chaim M Roifman. J Allergy Clin Immunol 2021
5

Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.
Farah Qaiser, Tara Sadoway, Yue Yin, Quratulain Zulfiqar Ali, Charlotte M Nguyen, Natalie Shum, Ian Backstrom, Paula T Marques, Sepideh Tabarestani, Renato P Munhoz,[...]. Brain Commun 2021
0

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S Reuter,[...]. JAMA Netw Open 2020
9


The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Miriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Neal Sondheimer, Ryan K C Yuen, Brett Trost, Tara A Paton, Sergio L Pereira,[...]. CMAJ 2018
32

An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition.
Maryam Jangjoo, Sarah J Goodman, Sanaa Choufani, Brett Trost, Stephen W Scherer, Elizabeth Kelley, Muhammad Ayub, Rob Nicolson, Stelios Georgiades, Jennifer Crosbie,[...]. Front Neurol 2021
0

Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
E Robert Wassman, Karen S Ho, Diana Bertrand, Kyle W Davis, Megan M Martin, Stephanie Page, Andreas Peiffer, Aparna Prasad, Moises A Serrano, Hope Twede,[...]. Neurol Genet 2019
1

Genome-wide detection of tandem DNA repeats that are expanded in autism.
Brett Trost, Worrawat Engchuan, Charlotte M Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A Mojarad, Yue Yin, Alona Dov,[...]. Nature 2020
35

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A Baribeau, Anne S Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R Marshall, Aparna Prasad,[...]. J Neurodev Disord 2019
5

The role of rare compound heterozygous events in autism spectrum disorder.
Bochao Danae Lin, Fabrice Colas, Isaac J Nijman, Jelena Medic, William Brands, Jeremy R Parr, Kristel R van Eijk, Sabine M Klauck, Andreas G Chiocchetti, Christine M Freitag,[...]. Transl Psychiatry 2020
0

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.
Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W Scherer, Berge A Minassian. Neurol Genet 2018
2

Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.
Ny Hoang, Ryan K C Yuen, Jennifer Howe, Irene Drmic, Patricia Ambrozewicz, Carolyn Russell, Jacob Vorstman, Shelly K Weiss, Evdokia Anagnostou, Beth A Malow,[...]. Am J Med Genet A 2021
0

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
Ada J S Chan, Cheryl Cytrynbaum, Ny Hoang, Patricia M Ambrozewicz, Rosanna Weksberg, Irene Drmic, Anne Ritzema, Russell Schachar, Susan Walker, Mohammed Uddin,[...]. NPJ Genom Med 2019
6

Impact of DNA source on genetic variant detection from human whole-genome sequencing data.
Brett Trost, Susan Walker, Syed A Haider, Wilson W L Sung, Sergio Pereira, Charly L Phillips, Edward J Higginbotham, Lisa J Strug, Charlotte Nguyen, Akshaya Raajkumar,[...]. J Med Genet 2019
8