Tsetsos, Fotis; Topaloudi, Apostolia; Jain, Pritesh; Yang, Zhiyu; Yu, Dongmei; Kolovos, Petros; Tumer, Zeynep; Rizzo, Renata; Hartmann, Andreas; Depienne, Christel; Worbe, Yulia; Mueller-Vahl, Kirsten R.; Cath, Danielle C.; Boomsma, Dorret I.; Wolanczyk, Tomasz; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Padmanabhuni, Shanmukha S.; Buxbaum, Joseph D.; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Yannaki, Evangelia; Stamatoyannopoulos, John A.; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Mir, Pablo; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J.; Porcelli, Cesare; Roessner, Veit; Walitza, Susanne; Schrag, Anette; Martino, Davide; Tischfield, Jay A.; Heiman, Gary A.; Willsey, A. Jeremy; Dietrich, Andrea; Davis, Lea K.; Crowley, James J.; Mathews, Carol A.; Scharf, Jeremiah M.; Georgitsi, Marianthi; Hoekstra, Pieter J.; Paschou, Peristera

Genomic variants and inferred biological processes in multiplex families with Tourette syndrome

JOURNAL OF PSYCHIATRY & NEUROSCIENCE

IF3.3

2023-05-193

OAAI

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

基于多基因风险评分的全表型关联研究确定了抽动秽语综合征的新关联

TRANSLATIONAL PSYCHIATRY

IF6.2

2023-02-2310

OAAI

Jain, Pritesh; Miller-Fleming, Tyne; Topaloudi, Apostolia R.; Yu, Dongmei K.; Drineas, Petros; Georgitsi, Marianthi; Yang, Zhiyu; Rizzo, Renata; Mueller-Vahl, Kirsten R.; Tumer, Zeynep A.; Mol Debes, Nanette; Hartmann, Andreas S.; Depienne, Christel E.; Worbe, Yulia S.; Mir, Pablo; Cath, Danielle C.; Boomsma, Dorret, I; Roessner, Veit; Wolanczyk, Tomasz; Janik, Piotr; Szejko, Natalia; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Buxbaum, Joseph D.; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J.; Porcelli, Cesare; Walitza, Susanne; Schrag, Anette; Martino, Davide; Dietrich, Andrea; Mathews, Carol A.; Scharf, Jeremiah M.; Hoekstra, Pieter J.; Davis, Lea K.; Paschou, Peristera

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders

JOURNAL OF ALZHEIMERS DISEASE

IF3.1

2022-10-111

PRE

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

SCIENTIFIC REPORTS

IF3.9

2022-01-07100

OAAI

Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population

JOURNAL OF CLINICAL MEDICINE

IF2.9

2021-12-212

OAAI

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency

FRONTIERS IN MOLECULAR NEUROSCIENCE

IF3.8

2021-05-1314

OAAI

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients

JOURNAL OF CLINICAL MEDICINE

IF2.9

2021-02-265

OAAI

A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2019-03-2770

OAAI

Functional characterization of a novel progranulin mutation in a patient with progressive nonfluent aphasia

NEUROBIOLOGY OF AGING

IF3.5

2018-12-014

PREAI

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

CELL REPORTS

IF6.9

2018-09-0169

OAAI

Wang, Sheng; Mandell, Jeffrey D.; Kumar, Yogesh; Sun, Nawei; Morris, Montana T.; Arbelaez, Juan; Nasello, Cara; Dong, Shan; Duhn, Clif; Zhao, Xin; Yang, Zhiyu; Padmanabhuni, Shanmukha S.; Yu, Dongmei; King, Robert A.; Dietrich, Andrea; Khalifa, Najah; Dahl, Niklas; Huang, Alden Y.; Neale, Benjamin M.; Coppola, Giovanni; Mathews, Carol A.; Scharf, Jeremiah M.; Fernandez, Thomas V.; Buxbaum, Joseph D.; De Rubeis, Silvia; Grice, Dorothy E.; Xing, Jinchuan; Heiman, Gary A.; Tischfield, Jay A.; Paschou, Peristera; Willsey, A. Jeremy; State, Matthew W.; Abdulkadir, Mohamed; Bodmer, Benjamin; Bromberg, Yana; Brown, Lawrence W.; Cheon, Keun-Ah; Coffey, Barbara J.; Deng, Li; Elzerman, Lonneke; Fremer, Carolin; Garcia-Delgar, Blanca; Gilbert, Donald L.; Hagstrom, Julie; Hedderly, Tammy; Heyman, Isobel; Hoekstra, Pieter J.; Hong, Hyun Ju; Huyser, Chaim; Kim, Eun-Joo; Kim, Young Key; Kim, Young-Shin; Koh, Yun-Joo; Kook, Sodahm; Kuperman, Samuel; Leventhal, Bennett L.; Ludolph, Andrea G.; Madruga-Garrido, Marcos; Maras, Athanasios; Mir, Pablo; Morer, Astrid; Muller-Vahl, Kirsten; Munchau, Alexander; Murphy, Tara L.; Plessen, Kerstin J.; Poisner, Hannah; Roessner, Veit; Sanders, Stephan J.; Shin, Eun-Young; Song, Dong-Ho; Song, Jungeun; Thackray, Joshua K.; Tubing, Jennifer; Visscher, Frank; Wanderer, Sina; Woods, Martin; Zhang, Yeting; Zinner, Samuel H.; Androutsos, Christos; Barta, Csaba; Farkas, Luca; Fichna, Jakub; Georgitsi, Marianthi; Janik, Piotr; Karagiannidis, Iordanis; Koumoula, Anastasia; Nagy, Peter; Puchala, Joanna; Rizzo, Renata; Szejko, Natalia; Szymanska, Urszula; Tarnok, Zsanett; Tsironi, Vaia; Wolanczyk, Tomasz; Zekanowski, Cezary; Barr, Cathy L.; Batterson, James R.; Berlin, Cheston; Bruun, Ruth D.; Budman, Cathy L.; Cath, Danielle C.; Chouinard, Sylvain; Cox, Nancy J.; Darrow, Sabrina; Davis, Lea K.; Dion, Yves; Freimer, Nelson B.; Grados, Marco A.; Hirschtritt, Matthew E.; Illmann, Cornelia; Kurlan, Roger; Leckman, James F.; Lyon, Gholson J.; Malaty, Irene A.; MacMahon, William M.; Okun, Michael S.; Osiecki, Lisa; Pauls, David L.; Posthuma, Danielle; Ramensky, Vasily; Robertson, Mary M.; Rouleau, Guy A.; Sandor, Paul; Singer, Harvey S.; Smit, Jan; Sul, Jae-Hoon

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

HUMAN GENOMICS

IF4.3

2018-07-0342

OAAI

Role of BRCA1 in Neuronal Death in Alzheimer's Disease

ACS CHEMICAL NEUROSCIENCE

IF3.9

2018-04-1016

PREAI

Modified aging of elite athletes revealed by analysis of epigenetic age markers

AGING-US