Research Article

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  Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

  Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, Kyle J. Steinman, Sarah J. Spence, Melissa Ramocki, Elysa Jill Marco, LeeAnne Green Snyder, John E. Spiro, Wendy K. Chung, Poduri Annapurna, Elliott H. Sherr

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  A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data

  Michael E. Belloy, Yann Le Guen, Sarah J. Eger, Valerio Napolioni, Michael D. Greicius, Zihuai He

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  A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson DiseaseBaseline Results

  Stella Jensen-Roberts, Taylor L. Myers, Peggy Auinger, Paul Cannon, Helen M. Rowbotham, Daniella Coker, Eli Chanoff, Julia Soto, Meghan Pawlik, Katherine Amodeo, Saloni Sharma, Blanca Valdovinos, Renee Wilson, Aayush Sarkar, Michael P. McDermott, Roy N. Alcalay, Kevin Biglan, Daniel Kinel, Caroline Tanner, Reni Winter-Evans, Erika F. Augustine, Robert G. Holloway, E. Ray Dorsey, Ruth B. Schneider

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  Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants

  Amy Christina Ferguson, Sophie Thrippleton, David Henshall, Ed Whittaker, Bryan Conway, Malcolm MacLeod, Rainer Malik, Konrad Rawlik, Albert Tenesa, Cathie Sudlow, Kristiina Rannikmae

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  Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations

  David K. Ryan, Ville Karhunen, Bowen Su, Matthew Traylor, Tom G. Richardson, Stephen Burgess, Ioanna Tzoulaki, Dipender Gill

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  Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary NeuropathyGenotype and Phenotype Overview

  Signe Setlere, Marija Jurcenko, Linda Gailite, Dmitrijs Rots, Viktorija Kenina

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  High Hereditary Transthyretin-Related Amyloidosis Prevalence in CreteGenetic Heterogeneity and Distinct Phenotypes

  Minas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, Miltiadis Tsilimbaris, Kleita Michaelidou, Lambros Mathioudakis, Anastasios Marinis, Emmanouil Giannakoudakis, Cleanthe Spanaki, Irene Skoula, Sofia Erimaki, Georgios Amoiridis, Georgios Koutsis, Sofia Koukouraki, Kostas Stylianou, Andreas Plaitakis, Panayiotis D. Mitsias, Ioannis Zaganas

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  Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

  Maurizio Grassano, Giorgia Brodini, Giovanni De Marco, Federico Casale, Giuseppe Fuda, Paolina Salamone, Maura Brunetti, Luca Sbaiz, Salvatore Gallone, Paolo Cugnasco, Alessandro Bombaci, Rosario Vasta, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Bryan J. Traynor, Adriano Chio

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  Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant

  Kento Matoba, Norio Chihara, Wataru Satake, Hideki Tokuoka, Yoshihisa Otsuka, Takehiro Ueda, Kenji Sekiguchi, Masayuki Itoh, Riki Matsumoto

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