Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 8

Results: 24

Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1231, doi. 10.1007/s00439-023-02580-y

By:

Morrill, Kathleen;
Chen, Frances;
Karlsson, Elinor

Publication type:

Article

Editorial for the Neurogenetics and Neurogenomics special issue.

Published in:

2023

By:

Lim, Elaine T.;
Chan, Yingleong

Publication type:

Editorial

Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1303, doi. 10.1007/s00439-023-02577-7

By:

Candia, Noemi;
Ibacache, Andrés;
Medina-Yáñez, Ignacio;
Olivares, Gonzalo H.;
Ramírez, Mauricio;
Vega-Macaya, Franco;
Couve, Andrés;
Sierralta, Jimena;
Olguín, Patricio

Publication type:

Article

Migraine, chronic kidney disease and kidney function: observational and genetic analyses.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1185, doi. 10.1007/s00439-023-02575-9

By:

Zhang, Wenqiang;
Zhang, Li;
Yang, Luo;
Xiao, Chenghan;
Wu, Xueyao;
Yan, Peijing;
Cui, Huijie;
Yang, Chao;
Zhu, Jingwei;
Wu, Xuan;
Tang, Mingshuang;
Wang, Yutong;
Chen, Lin;
Liu, Yunjie;
Zou, Yanqiu;
Zhang, Ling;
Yang, Chunxia;
Yao, Yuqin;
Li, Jiayuan;
Liu, Zhenmi

Publication type:

Article

Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1055, doi. 10.1007/s00439-023-02572-y

By:

Ferrero, Enza;
Di Gregorio, Eleonora;
Ferrero, Marta;
Ortolan, Erika;
Moon, Young-Ah;
Di Campli, Antonella;
Pavinato, Lisa;
Mancini, Cecilia;
Tripathy, Debasmita;
Manes, Marta;
Hoxha, Eriola;
Costanzi, Chiara;
Pozzi, Elisa;
Rossi Sebastiano, Matteo;
Mitro, Nico;
Tempia, Filippo;
Caruso, Donatella;
Borroni, Barbara;
Basso, Manuela;
Sallese, Michele

Publication type:

Article

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1221, doi. 10.1007/s00439-023-02571-z

By:

Heinonen, Tiina;
Flegel, Thomas;
Müller, Hanna;
Kehl, Alexandra;
Hundi, Sruthi;
Matiasek, Kaspar;
Fischer, Andrea;
Donner, Jonas;
Forman, Oliver P.;
Lohi, Hannes;
Hytönen, Marjo K.

Publication type:

Article

Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1113, doi. 10.1007/s00439-023-02568-8

By:

Ghaffar, Ammarah;
Nyholt, Dale R.

Publication type:

Article

Cellular senescence and neurodegeneration.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1247, doi. 10.1007/s00439-023-02565-x

By:

Holloway, Kristopher;
Neherin, Kashfia;
Dam, Kha Uyen;
Zhang, Hong

Publication type:

Article

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1043, doi. 10.1007/s00439-023-02564-y

By:

Sparber, Peter;
Bychkov, Igor;
Pyankov, Denis;
Skoblov, Mikhail

Publication type:

Article

The exocyst complex in neurological disorders.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1263, doi. 10.1007/s00439-023-02558-w

By:

Halim, Dilara O.;
Munson, Mary;
Gao, Fen-Biao

Publication type:

Article

Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1001, doi. 10.1007/s00439-023-02556-y

By:

Panjeshahi, Samareh;
Karimzadeh, Parvaneh;
Movafagh, Abolfazl;
Ahmadabadi, Farzad;
Rahimian, Elham;
Alijanpour, Sahar;
Miryounesi, Mohammad

Publication type:

Article

Demographic diversity of genetic databases used in Alzheimer's disease research.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1215, doi. 10.1007/s00439-023-02551-3

By:

Field, Robert I.;
Orlando, Anthony W.;
Rosoff, Arnold J.

Publication type:

Article

Direct and indirect impact of SARS-CoV-2 on the brain.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1317, doi. 10.1007/s00439-023-02549-x

By:

Peron, J. P. S.

Publication type:

Article

Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1271, doi. 10.1007/s00439-023-02541-5

By:

Koller, Dora;
Benítez-Burraco, Antonio;
Polimanti, Renato

Publication type:

Article

TMEM151A variants associated with paroxysmal kinesigenic dyskinesia.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1017, doi. 10.1007/s00439-023-02535-3

By:

Huang, Hua lin;
Zhang, Qing xia;
Huang, Fei;
Long, Xiao yan;
Song, Zhi;
Xiao, Bo;
Li, Guo liang;
Ma, Cai yu;
Liu, Ding

Publication type:

Article

oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1281, doi. 10.1007/s00439-023-02534-4

By:

Dawes, Pepper;
Murray, Liam F.;
Olson, Meagan N.;
Barton, Nathaniel J.;
Smullen, Molly;
Suresh, Madhusoodhanan;
Yan, Guang;
Zhang, Yucheng;
Fernandez-Fontaine, Aria;
English, Jay;
Uddin, Mohammed;
Pak, ChangHui;
Church, George M.;
Chan, Yingleong;
Lim, Elaine T.

Publication type:

Article

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1029, doi. 10.1007/s00439-023-02533-5

By:

Chi, Ching-Shiang;
Tsai, Chi-Ren;
Lee, Hsiu-Fen

Publication type:

Article

Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1149, doi. 10.1007/s00439-023-02532-6

By:

Islam, Md Rafiqul;
Nyholt, Dale R.

Publication type:

Article

Transcriptomic reprogramming for neuronal age reversal.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1293, doi. 10.1007/s00439-023-02529-1

By:

Plesa, Alexandru M.;
Shadpour, Michael;
Boyden, Ed;
Church, George M.

Publication type:

Article

Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1173, doi. 10.1007/s00439-023-02525-5

By:

D'Antona, Salvatore;
Pathak, Gita A.;
Koller, Dora;
Porro, Danilo;
Cava, Claudia;
Polimanti, Renato

Publication type:

Article

Toward a comprehensive catalog of regulatory elements.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1091, doi. 10.1007/s00439-023-02519-3

By:

Fan, Kaili;
Pfister, Edith;
Weng, Zhiping

Publication type:

Article

Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1139, doi. 10.1007/s00439-022-02514-0

By:

Liu, Kangcheng;
Wu, Pengfei;
Zou, Jing;
Fan, Huimin;
Hu, Hanying;
Cheng, Yanhua;
He, Fei;
Liu, Jingying;
You, Zhipeng

Publication type:

Article

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1077, doi. 10.1007/s00439-022-02506-0

By:

Frohne, Alexandra;
Koenighofer, Martin;
Cetin, Hakan;
Nieratschker, Michael;
Liu, David T.;
Laccone, Franco;
Neesen, Juergen;
Nemec, Stefan F.;
Schwarz-Nemec, Ursula;
Schoefer, Christian;
Avraham, Karen B.;
Frei, Klemens;
Grabmeier-Pfistershammer, Katharina;
Kratzer, Bernhard;
Schmetterer, Klaus;
Pickl, Winfried F.;
Parzefall, Thomas

Publication type:

Article

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.

Published in:

Human Genetics, 2023, v. 142, n. 8, p. 1201, doi. 10.1007/s00439-022-02482-5

By:

Safizadeh Shabestari, Seyed Ali;
Nassir, Nasna;
Sopariwala, Samana;
Karimov, Islam;
Tambi, Richa;
Zehra, Binte;
Kosaji, Noor;
Akter, Hosneara;
Berdiev, Bakhrom K.;
Uddin, Mohammed

Publication type:

Article