Journal article

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang

PLOS Genetics | PUBLIC LIBRARY SCIENCE | Published : 2018

Grants

Awarded by National Institute of Neurological Disorders and Stroke


Awarded by Health Research Council of NZ


Awarded by European Union through the Seventh Framework Programme (FP7) under the project DESIRE


Awarded by NINDS


Awarded by NHMRC


Awarded by Bryan ADRC NIA


Awarded by B57 SAIC-Fredrick Inc


Awarded by National Human Genome Research Institute


Awarded by National Institute of Mental Health


Awarded by National Institute of Diabetes and Digestive and Kidney Diseases


Awarded by National Institute of Allergy and Infectious Diseases


Awarded by National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology and Immunogen Discovery


Awarded by National Center for Advancing Translational Sciences


Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development


Awarded by Ellison Medical Foundation New Scholar award


Awarded by Washington Heights-Inwood Columbia Aging Project (WHICAP) - National Institute on Aging (NIA)


Awarded by National Center for Advancing Translational Sciences, National Institutes of Health


Funding Acknowledgements

This work was supported by grants from the National Institute of Neurological Disorders and Stroke (The Epilepsy Phenome/Genome Project NS053998; Epi4K-Administrative Core NS077274; Epi4K-Sequencing, Biostatistics and Bioinformatics Core NS077303; Epi4K-Project 1 - Epileptic Encephalopathies NS077364, Epi4K-Phenotyping and Clinical Informatics Core NS077276), Curekids NZ and the Health Research Council of NZ 14/200, and the European Union through the Seventh Framework Programme (FP7) under the project DESIRE (N602531). AP was supported by NINDS K23NS069784 and the Boston Children's Hospital Translational Research Program. RJL is supported by a Melbourne Childrens Clinician Scientist Fellowship. Work by SF and MB was supported by the Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC IRIIS. MB is funded by NHMRC Senior Research Fellowship 110297 and NHMRC Program Grant 1054618. CAW was supported by the NINDS (RO1 NS 35129). CAW is an Investigator of the Howard Hughes Medical Institute. PJL was supported by an NHMRC Career Development Fellowship (GNT1032364).The collection of control samples and data was funded in part by: Biogen, Inc. (https://www.biogen.com); Gilead Sciences, Inc. (http://www.gilead.com); UCB (http://www.ucb-usa.com/Home); Bryan ADRC NIA P30AG028377 (https://neurology.duke.edu/research/research-centers/joseph-and-kathleen-bryan-alzheimers-disease-research-center-bryan-adrc-13); B57 SAIC-Fredrick Inc M11-074; National Institute of Neurological Disorders and Stroke (https://www.ninds.nih.gov, RC2NS070344; RC2MH089915; U01NS077303; U01NS053998, U54NS078059, P01HD080642); National Human Genome Research Institute (http://www.genome.gov, Yale Mendelian Genomics Center - UM1HG006504, U01HG007672); National Institute of Mental Health (https://www.nimh.nih.gov, K01MH098126, R01MH097971, R01MH099216, RC2MH089915); National Institute of Diabetes and Digestive and Kidney Diseases (https://www.niddk.nih.gov, R01DK080099); National Institute of Allergy and Infectious Diseases (https://www.niaid.nih.gov, Division of Intramural Research, 1R56AI098588-01A1); National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology and Immunogen Discovery (https://chavi-id-duke.org, UM1AI100645, U19AI067854); National Center for Advancing Translational Sciences (https://ncats.nih.gov, UL1TR000040); Eunice Kennedy Shriver National Institute of Child Health and Human Development (https://nichd.nih.gov, R01HD048805); the Ellison Medical Foundation New Scholar award AG-NS-0441-08; the Duke Chancellor's Discovery Program Research Fund 2014; Neil Molberger Brain Research Fund; Endocrine Fellows Foundation Grant (http://www.endocrinefellows.org); Bill and Melinda Gates Foundation (https://www.gatesfoundation.org); The Murdock Study Community Registry and Biorepository (https://www.murdock-study.com/ongoing-studies/community-registry-and-biorepository/); The Stanley Institute for Cognitive Genomics at Cold Spring Harbor Laboratory (http://www.cshl.edu/Research/Neuroscience/Stanley-Institute-for-Cognitive-Genomics.html); the Duke Genome Sequencing Clinic; New York-Presbyterian Hospital (http://www.nyp.org)broken vertical bar; Columbia University College Physicians and Surgeons (http://www.cumc.columbia.edu/education/physicians_surgeons); Columbia University Medical Center (http://www.cumc.columbia.edu); The J. Willard and Alice S. Marriott Foundation (https://www.marriottfoundation.org); The Muscular Dystrophy Association (https://www.mda.org); The Nicholas Nunno Foundation (http://www.nicholasnunnofoundation.org); The JDM Fund for Mitochondrial Research (http://www.thejdmfund.org); The Arturo Estopinan TK2 Research Fund; and The Endocrine Fellows Foundation; Helaine B Allen and Emily Allen Wolff. Data collection and sharing for the WHICAP project (used as controls in this analysis) was supported by the Washington Heights-Inwood Columbia Aging Project (WHICAP, http://www.cumc.columbia.edu/dept/taub/res-normal.html, P01AG07232, R01AG037212, RF1AG054023) funded by the National Institute on Aging (NIA) and by the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant Number UL1TR001873. This manuscript has been reviewed by WHICAP investigators for scientific content and consistency of data interpretation with previous WHICAP Study publications. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.