Publications by authors named "Daniel P Howrigan"

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Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses.
Julia M Sealock, Franjo Ivankovic, Calwing Liao, Siwei Chen, Claire Churchhouse, Daniel P Howrigan

Nat Protoc· September 2025

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Daniel P Howrigan

medRxiv· September 2024

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A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.
Toni A Boltz, Benjamin B Chu, Calwing Liao, Julia M Sealock, Robert Ye, Daniel P Howrigan

bioRxiv· September 2024

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Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation.
Caitlin E Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S Palmer, Daniel P Howrigan

Nat Hum Behav· August 2024

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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Konrad J Karczewski, Matthew Solomonson, Katherine R Chao, Julia K Goodrich, Grace Tiao, Daniel P Howrigan

Cell Genom· September 2022

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A cross-disorder dosage sensitivity map of the human genome.
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Daniel P Howrigan

Cell· August 2022

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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
Duncan S Palmer, Daniel P Howrigan, Sinéad B Chapman, Rolf Adolfsson, Nick Bass

Nat Genet· May 2022

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Rare coding variants in ten genes confer substantial risk for schizophrenia.
Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Daniel P Howrigan

Nature· April 2022

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Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
Vassily Trubetskoy, Antonio F Pardiñas, Ting Qi, Georgia Panagiotaropoulou, Swapnil Awasthi, Daniel P Howrigan

Nature· April 2022

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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Joshua C Bis, Xueqiu Jian, Brian W Kunkle, Yuning Chen, Kara L Hamilton-Nelson, Daniel P Howrigan

Mol Psychiatry· August 2020

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Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Joshua C Bis, Xueqiu Jian, Brian W Kunkle, Yuning Chen, Kara L Hamilton-Nelson, Daniel P Howrigan

Mol Psychiatry· August 2020

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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.
Lisa-Marie Niestroj, Eduardo Perez-Palma, Daniel P Howrigan, Yadi Zhou, Feixiong Cheng

Brain· July 2020

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Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Sali M K Farhan, Daniel P Howrigan, Liam E Abbott, Joseph R Klim, Simon D Topp

Nat Neurosci· February 2020

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Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.
Daniel P Howrigan, Samuel A Rose, Kaitlin E Samocha, Menachem Fromer, Felecia Cerrato

Nat Neurosci· February 2020

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Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Sali M K Farhan, Daniel P Howrigan, Liam E Abbott, Joseph R Klim, Simon D Topp

Nat Neurosci· December 2019

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SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse.
Frank Koopmans, Pim van Nierop, Maria Andres-Alonso, Andrea Byrnes, Tony Cijsouw, Daniel P Howrigan

Neuron· July 2019

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Paternal-age-related de novo mutations and risk for five disorders.
Jacob L Taylor, Jean-Christophe P G Debost, Sarah U Morton, Emilie M Wigdor, Henrike O Heyne, Daniel P Howrigan

Nat Commun· July 2019

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Identification of common genetic risk variants for autism spectrum disorder.
Jakob Grove, Stephan Ripke, Thomas D Als, Manuel Mattheisen, Raymond K Walters, Daniel P Howrigan

Nat Genet· March 2019

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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.
Ditte Demontis, Raymond K Walters, Joanna Martin, Manuel Mattheisen, Thomas D Als, Daniel P Howrigan

Nat Genet· January 2019

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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.
Allison A Regier, Yossi Farjoun, David E Larson, Olga Krasheninina, Hyun Min Kang, Daniel P Howrigan

Nat Commun· October 2018

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Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Eduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Daniel P Howrigan

J Med Genet· September 2017

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Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders.
Jing Li, Wangshu Zhang, Hui Yang, Daniel P Howrigan, Brent Wilkinson

Nat Neurosci· August 2017

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski

Nat Genet· April 2017

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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu

Nat Genet· January 2017

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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Andrea Ganna, Giulio Genovese, Daniel P Howrigan, Andrea Byrnes, Mitja Kurki

Nat Neurosci· December 2016

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