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Miriam Schmidts
Miriam Schmidts
Afiliación desconocida
Dirección de correo verificada de uniklinik-freiburg.de
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The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ...
Nature 526 (7571), 82-90, 2015
11362015
Timing, rates and spectra of human germline mutation
R Rahbari, A Wuster, SJ Lindsay, RJ Hardwick, LB Alexandrov, S Al Turki, ...
Nature genetics 48 (2), 126-133, 2016
9612016
Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling
TB Huber, B Hartleben, J Kim, M Schmidts, B Schermer, A Keil, L Egger, ...
Molecular and cellular biology 23 (14), 4917-4928, 2003
5122003
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
4472016
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 8111, 2015
4442015
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ...
Nature genetics 46 (2), 188-193, 2014
3942014
Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains
TB Huber, M Simons, B Hartleben, L Sernetz, M Schmidts, E Gundlach, ...
Human molecular genetics 12 (24), 3397-3405, 2003
3942003
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
AC Merveille, EE Davis, A Becker-Heck, M Legendre, I Amirav, G Bataille, ...
Nature genetics 43 (1), 72-78, 2011
3922011
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ...
The American Journal of Human Genetics 91 (4), 672-684, 2012
3392012
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
LR Lopes, A Zekavati, P Syrris, M Hubank, C Giambartolomei, ...
Journal of medical genetics 50 (4), 228-239, 2013
3312013
DYX1C1 is required for axonemal dynein assembly and ciliary motility
A Tarkar, NT Loges, CE Slagle, R Francis, GW Dougherty, JV Tamayo, ...
Nature genetics 45 (9), 995-1003, 2013
3292013
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
HM Mitchison, M Schmidts, NT Loges, J Freshour, A Dritsoula, RA Hirst, ...
Nature genetics 44 (4), 381-389, 2012
3202012
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
JR Panizzi, A Becker-Heck, VH Castleman, DA Al-Mutairi, Y Liu, ...
Nature genetics 44 (6), 714-719, 2012
3022012
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
2662015
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
MR Knowles, MW Leigh, JL Carson, SD Davis, SD Dell, TW Ferkol, ...
Thorax 67 (5), 433-441, 2012
2592012
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7 (1), 11491, 2016
2582016
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
NT Loges, H Olbrich, A Becker-Heck, K Häffner, A Heer, C Reinhard, ...
The American Journal of Human Genetics 85 (6), 883-889, 2009
2542009
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
KJ Carss, E Stevens, AR Foley, S Cirak, M Riemersma, S Torelli, ...
The American Journal of Human Genetics 93 (1), 29-41, 2013
2532013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ...
The American Journal of Human Genetics 93 (5), 915-925, 2013
2492013
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ...
Nature genetics 49 (2), 223-237, 2017
2272017
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