Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Epilepsy

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Lancet Neurol.

Epi4K consortium; Epilepsy Phenome/Genome Project.

doi: 10.1016/

Epilepsy

Testing association of rare genetic variants with resistance to three common antiseizure medications

Epilepsia.

Wolking S, Moreau C, Nies AT, Schaeffeler E, McCormack M, Auce P, Avbersek A, Becker F, Krenn M, Møller RS, Nikanorova M, Weber YG, Weckhuysen S, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Schwab M, Krause R, Sisodiya SM, Cossette P, Girard SL, Lerche H, EpiPGX Consortium.

doi: 10.1111/epi.16467.

Dementia

Next Generation Sequencing Analysis in Early Onset Dementia Patients

J Alzheimers Dis.

Bonvicini C, Scassellati C, Benussi L, Di Maria E, Maj C, Ciani M, Fostinelli S, Mega A, Bocchetta M, Lanzi G, Giacopuzzi E, Ferraboli S, Pievani M, Fedi V, Defanti CA, Giliani S, Frisoni GB, Ghidoni R, Gennarelli M

doi: 10.3233/JAD-180482.

Impact of home visit capacity on genetic association studies of late-onset Alzheimer's disease

Alzheimers Dement.

Fardo DW, Gibbons LE, Mukherjee S, Glymour MM, McCormick W, McCurry SM, Bowen JD, Larson EB, Crane PK

doi: 10.1016/j.jalz.2017.01.012.

Alzheimer’s Disease

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

JAMA Neurol.

Kunkle BW, Vardarajan BN, Naj AC, Whitehead PL, Rolati S, Slifer S, Carney RM, Cuccaro ML, Vance JM, Gilbert JR, Wang LS, Farrer LA, Reitz C, Haines JL, Beecham GW, Martin ER, Schellenberg GD, Mayeux RP, Pericak-Vance MA

doi: 10.1001/

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

JAMA Psychiatry.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R

doi: 10.1001/jamapsychiatry.

Bipolar Disorder

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families

Transl Psychiatry.

Forstner AJ, Fischer SB, Schenk LM, Strohmaier J, Maaser-Hecker A, Reinbold CS, Sivalingam S, Hecker J, Streit F, Degenhardt F, Witt SH, Schumacher J, Thiele H, Nürnberg P, Guzman-Parra J, Orozco Diaz G, Auburger G, Albus M, Borrmann-Hassenbach M, González MJ, Gil Flores S, Cabaleiro Fabeiro FJ, Del Río Noriega F, Perez Perez F, Haro González J, Rivas F, Mayoral F, Bauer M, Pfennig A, Reif A, Herms S, Hoffmann P, Pirooznia M, Goes FS, Rietschel M, Nöthen MM, Cichon S

doi: 10.1038/s41398-020-0732-y.

Aging and Cognitive FunctionsAlzheimer’s DiseaseDementia

Associations of the Top 20 Alzheimer Disease Risk Variants With Brain Amyloidosis

JAMA Neurol.

Apostolova LG, Risacher SL, Duran T, Stage EC, Goukasian N, West JD, Do TM, Grotts J, Wilhalme H, Nho K, Phillips M, Elashoff D, Saykin AJ

doi: 10.1001/jamaneurol.

Alzheimer’s DiseaseDementia

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Lancet Neurol.

Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, Criscuolo C, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V; International Parkinsonism Genetics Network

doi: 10.1016/S1474-

Related content

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Testing association of rare genetic variants with resistance to three common antiseizure medications

Next Generation Sequencing Analysis in Early Onset Dementia Patients

Impact of home visit capacity on genetic association studies of late-onset Alzheimer's disease

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families

Associations of the Top 20 Alzheimer Disease Risk Variants With Brain Amyloidosis

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study