Thomas Wieland
Thomas Wieland
Foundation Medicine
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Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, PAC t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ...
The Lancet 380 (9854), 1674-1682, 2012
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
A Freischmidt, T Wieland, B Richter, W Ruf, V Schaeffer, K Müller, ...
Nature neuroscience 18 (5), 631-636, 2015
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension
F Beuschlein, S Boulkroun, A Osswald, T Wieland, HN Nielsen, ...
Nature genetics 45 (4), 440-444, 2013
Mutations in the deubiquitinase gene USP8 cause Cushing's disease
M Reincke, S Sbiera, A Hayakawa, M Theodoropoulou, A Osswald, ...
Nature genetics 47 (1), 31-38, 2015
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome
F Beuschlein, M Fassnacht, G Assié, D Calebiro, CA Stratakis, A Osswald, ...
New England Journal of Medicine 370 (11), 1019-1028, 2014
Calmodulin mutations associated with recurrent cardiac arrest in infants
L Crotti, CN Johnson, E Graf, GM De Ferrari, BF Cuneo, M Ovadia, ...
Circulation 127 (9), 1009-1017, 2013
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA
TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ...
The American journal of human genetics 91 (6), 1144-1149, 2012
Effect of predicted protein-truncating genetic variants on the human transcriptome
MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...
Science 348 (6235), 666-669, 2015
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
J Winkelmann, L Lin, B Schormair, BR Kornum, J Faraco, G Plazzi, ...
Human molecular genetics 21 (10), 2205-2210, 2012
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ...
Nature genetics 45 (2), 214-219, 2013
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ...
The American Journal of Human Genetics 90 (2), 314-320, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
TB Haack, B Haberberger, EM Frisch, T Wieland, A Iuso, M Gorza, ...
Journal of medical genetics 49 (4), 277-283, 2012
Transcriptional regulator PRDM12 is essential for human pain perception
YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ...
Nature genetics 47 (7), 803-808, 2015
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy
TB Haack, R Kopajtich, P Freisinger, T Wieland, J Rorbach, TJ Nicholls, ...
The American Journal of Human Genetics 93 (2), 211-223, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ...
The American Journal of Human Genetics 93 (3), 482-495, 2013
NEK1 mutations in familial amyotrophic lateral sclerosis
D Brenner, K Müller, T Wieland, P Weydt, S Böhm, D Lule, A Hübers, ...
Brain 139 (5), e28-e28, 2016
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ...
The American Journal of Human Genetics 95 (6), 708-720, 2014
Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
TB Haack, C Staufner, MG Köpke, BK Straub, S Kölker, C Thiel, ...
The American Journal of Human Genetics 97 (1), 163-169, 2015
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