Search Results - Daniele Merico

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  1. 1

    A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction by Emma Bohn, Tammy T. Y. Lau, Omar Wagih, Tehmina Masud, Daniele Merico, Daniele Merico

    Published in Frontiers in Molecular Biosciences (2023-09-01)
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  2. 2

    Transcriptional network of p63 in human keratinocytes. by Silvia Pozzi, Federico Zambelli, Daniele Merico, Giulio Pavesi, Amélie Robert, Peggy Maltère, Xavier Gidrol, Roberto Mantovani, M Alessandra Vigano

    Published in PLoS ONE (2009-01-01)
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  3. 3

    Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease. by Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett

    Published in PLoS ONE (2017-01-01)
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  4. 4

    Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing by Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

    Published in npj Genomic Medicine (2025-01-01)
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  5. 5

    Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons by Eric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L. Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K.C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer

    Published in Stem Cell Reports (2018-11-01)
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  6. 6

    Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency by Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB

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  7. 7

    Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder by Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer

    Published in Nature Communications (2022-10-01)
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