Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 8

Results: 15

A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1369, doi. 10.1093/hmg/ddy425

By:

Horebeek, Lies Van;
Hilven, Kelly;
Mallants, Klara;
Nieuwenhuijze, Annemarie Van;
Kelkka, Tiina;
Savola, Paula;
Mustjoki, Satu;
Schlenner, Susan M;
Liston, Adrian;
Dubois, Bénédicte;
Goris, An

Publication type:

Article

The effect of body mass index on smoking behaviour and nicotine metabolism: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1322, doi. 10.1093/hmg/ddy434

By:

Taylor, Amy E;
Richmond, Rebecca C;
Palviainen, Teemu;
Loukola, Anu;
Wootton, Robyn E;
Kaprio, Jaakko;
Relton, Caroline L;
Smith, George Davey;
Munafò, Marcus R

Publication type:

Article

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1312, doi. 10.1093/hmg/ddy432

By:

Wang, Eric T;
Treacy, Daniel;
Eichinger, Katy;
Struck, Adam;
Estabrook, Joseph;
Olafson, Hailey;
Wang, Thomas T;
Bhatt, Kirti;
Westbrook, Tony;
Sedehizadeh, Sam;
Ward, Amanda;
Day, John;
Brook, David;
Berglund, J Andrew;
Cooper, Thomas;
Housman, David;
Thornton, Charles;
Burge, Christopher

Publication type:

Article

EAP1 regulation of GnRH promoter activity is important for human pubertal timing.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1357, doi. 10.1093/hmg/ddy451

By:

Mancini, Alessandra;
Howard, Sasha R;
Cabrera, Claudia P;
Barnes, Michael R;
David, Alessia;
Wehkalampi, Karoliina;
Heger, Sabine;
Lomniczi, Alejandro;
Guasti, Leonardo;
Ojeda, Sergio R;
Dunkel, Leo

Publication type:

Article

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1298, doi. 10.1093/hmg/ddy429

By:

Lahola-Chomiak, Adrian A;
Footz, Tim;
Nguyen-Phuoc, Kim;
Neil, Gavin J;
Fan, Baojian;
Allen, Keri F;
Greenfield, David S;
Parrish, Richard K;
Linkroum, Kevin;
Pasquale, Louis R;
Leonhardt, Ralf M;
Ritch, Robert;
Javadiyan, Shari;
Craig, Jamie E;
Allison, W T;
Lehmann, Ordan J;
Walter, Michael A;
Wiggs, Janey L

Publication type:

Article

TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1227, doi. 10.1093/hmg/ddy416

By:

Aiken, Jayne;
Moore, Jeffrey K;
Bates, Emily A

Publication type:

Article

Dynamic transcriptomic analysis reveals suppression of PGC1 α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1244, doi. 10.1093/hmg/ddy405

By:

Banerji, Christopher R S;
Panamarova, Maryna;
Pruller, Johanna;
Figeac, Nicolas;
Hebaishi, Husam;
Fidanis, Efthymios;
Saxena, Alka;
Contet, Julian;
Sacconi, Sabrina;
Severini, Simone;
Zammit, Peter S

Publication type:

Article

Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1381, doi. 10.1093/hmg/ddz011

By:

Laaksonen, Jaakko;
Seppälä, Ilkka;
Raitoharju, Emma;
Mononen, Nina;
Lyytikäinen, Leo-Pekka;
Waldenberger, Melanie;
Illig, Thomas;
Lepistö, Maija;
Almusa, Henrikki;
Ellonen, Pekka;
Hutri-Kähönen, Nina;
Juonala, Markus;
Kähönen, Mika;
Raitakari, Olli;
Salonen, Jukka T;
Lehtimäki, Terho

Publication type:

Article

Corrigendum: Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1402, doi. 10.1093/hmg/ddy417

By:

Sayols-Baixeras, S;
Subirana, I;
Lluis-Ganella, C;
Civeira, F;
Roquer, J;
Do, A N;
Absher, D;
Cenarro, A;
Muñoz, D;
Soriano-Tárraga, C;
Jiménez-Conde, J;
Ordovas, J M;
Senti, M;
Aslibekyan, S;
Marrugat, J;
Arnett, D K;
Elosua, R

Publication type:

Article

Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1260, doi. 10.1093/hmg/ddy420

By:

Belin, Sophie;
Ornaghi, Francesca;
Shackleford, Ghjuvan'Ghjacumu;
Wang, Jie;
Scapin, Cristina;
Lopez-Anido, Camila;
Silvestri, Nicholas;
Robertson, Neil;
Williamson, Courtney;
Ishii, Akihiro;
Taveggia, Carla;
Svaren, John;
Bansal, Rashmi;
Schwab, Markus H;
Nave, Klaus;
Fratta, Pietro;
D'Antonio, Maurizio;
Poitelon, Yannick;
Feltri, M Laura;
Wrabetz, Lawrence

Publication type:

Article

Molecular signatures of X chromosome inactivation and associations with clinical outcomes in epithelial ovarian cancer.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1331, doi. 10.1093/hmg/ddy444

By:

Winham, Stacey J;
Larson, Nicholas B;
Armasu, Sebastian M;
Fogarty, Zachary C;
Larson, Melissa C;
McCauley, Brian M;
Wang, Chen;
Lawrenson, Kate;
Gayther, Simon;
Cunningham, Julie M;
Fridley, Brooke L;
Goode, Ellen L

Publication type:

Article

Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1343, doi. 10.1093/hmg/ddy433

By:

Frederick, Natalie M;
Shah, Parth V;
Didonna, Alessandro;
Langley, Monica R;
Kanthasamy, Anumantha G;
Opal, Puneet

Publication type:

Article

Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1392, doi. 10.1093/hmg/ddz015

By:

Ruth, Katherine S;
Soares, Ana Luiza G;
Borges, Maria-Carolina;
Eliassen, A Heather;
Hankinson, Susan E;
Jones, Michael E;
Kraft, Peter;
Nichols, Hazel B;
Sandler, Dale P;
Schoemaker, Minouk J;
Taylor, Jack A;
Zeleniuch-Jacquotte, Anne;
Lawlor, Deborah A;
Swerdlow, Anthony J;
Murray, Anna

Publication type:

Article

FOXF2 is required for cochlear development in humans and mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1286, doi. 10.1093/hmg/ddy431

By:

Bademci, Guney;
Abad, Clemer;
Incesulu, Armagan;
Elian, Fahed;
Reyahi, Azadeh;
Diaz-Horta, Oscar;
Cengiz, Filiz B;
Sineni, Claire J;
Seyhan, Serhat;
Atli, Emine Ikbal;
Basmak, Hikmet;
Demir, Selma;
Nik, Ali Moussavi;
Footz, Tim;
Guo, Shengru;
Duman, Duygu;
Fitoz, Suat;
Gurkan, Hakan;
Blanton, Susan H;
Walter, Michael A

Publication type:

Article

Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1274, doi. 10.1093/hmg/ddy427

By:

Belbellaa, Brahim;
Reutenauer, Laurence;
Monassier, Laurent;
Puccio, Hélène

Publication type:

Article