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Merel O. Mol

As seen in: Nature, Neurology
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Articles

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making - European Journal of Human Genetics

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By Daphne J. Smits, Federico Ferraro, Mark Drost, Yolande van Bever, Livija Bardina, Hennie T Brüggenwirth, Nienke van Engelen, Geert Geeven, Rebekkah J. Hitti-Malin, Lies H. Hoefsloot, Hanna IJspeert, Sander Lamballais, Merel O. Mol, Rachel Schot, Frank Sleutels, Martina Wilke, Marc Sylva, Tahsin Stefan Barakat, Dmitrijs Rots, Christophe Debuy, Laura Donker Kaat, Wouter te Rijdt, Monique Van Veghel
| Nature Verified
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Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing - Nature Communications

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By Cyril Pottier, Fahri Küçükali, Matt Baker Verified, Gregory Jenkins, Cristina T. Vicente, Wouter De Coster, Owen A Ross, Melissa Murray, Stephen J. Haggarty, Merel O. Mol, Ging-Yuek R. Hsiung, Shannon McDonnell, Saurabh Baheti, Keith A. Josephs, Kevin F. Bieniek, Leah Forsberg, Jennifer S. Yokoyama, Kimiko Domoto-Reilly, Matthis Synofzik, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, Ekaterina Rogaeva, Sandra Weintraub, Martin R Farlow, Dieter Edbauer, Richard J. Caselli, Eric M Reiman, Simon Mead, Alissa L. Nana, Nilüfer Ertekin-Taner, David S. Knopman, Ronald Petersen, Zbigniew K. Wszolek, Lea T. Grinberg, Salvatore Spina, Olivier Piguet, John Q. Trojanowski, C. Dirk Keene, Daniel H Geschwind, Carlos Cruchaga, Bernardino Ghetti, Glenda M Halliday, Jochen Herms, Adam L Boxer, Lawrence S. Honig, Oscar Lopez Verified, Jonathan Glass, David J. Irwin, Edward Lee, Vivianna Van Deerlin, Claire Troakes, Clifton L. Dalgard, Harro Seelaar, Bradley F. Boeve, Ian MacKenzie, William W. Seeley, Kristel Sleegers, Dennis W. Dickson, Joanna M. Biernacka, Maria C. Tartaglia
| Nature Verified
Abstract Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified.
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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease - Nature Genetics

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By Henne Holstege, Marc Hulsman, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Oriol Dols-Icardo, Philippe Amouyel, Claudine Berr, Joshua C. Bis, Stéphanie Debette, Lindsay A Farrer, Maria Fernandez, María Fernández Verified, Nick Fox Verified, Daniela Galimberti, Emmanuelle Génin, Yann Le Guen, Jonathan Haines, M. Arfan Ikram, Robert Kraaij, Merel O. Mol, Kevin Morgan, Adam C. Naj, Valerio Napolioni, Florence Pasquier, Margaret A. Pericak-Vance, Rachel Raybould, Richard Redon, Steffi G. Riedel-Heller, Fernando Rivadeneira, Jonathan M Schott, Sudha Seshadri, Gianfranco Spalletta, André G. Uitterlinden, Jennifer S. Yokoyama, Alfredo Ramirez, Alfredo Ramírez, Simon Mead, Julie Williams, Gaël Nicolas, Céline Bellenguez, Olivier Quenez, Detelina Grozeva, Penny J. Norsworthy, Paola Bossù, J. Nicholas Cochran, Benedetta Nacmias, Pascual Sanchez-Juan, Resie van Spaendonk, Niccolo’ Tesi
| Nature Verified
Abstract Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals—16,036 AD cases and 16,522 controls.
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