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Miriam Reuter
Miriam Reuter
The Hospital for Sick Children
Email verificata su sickkids.ca
Titolo
Citata da
Citata da
Anno
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ...
Genetics in Medicine 20 (4), 435-443, 2018
5112018
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ...
Cell 157 (3), 651-663, 2014
2752014
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
2122017
Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders
MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ...
JAMA psychiatry 74 (3), 293-299, 2017
2072017
A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data
B Trost, S Walker, Z Wang, B Thiruvahindrapuram, JR MacDonald, ...
The American Journal of Human Genetics 102 (1), 142-155, 2018
1662018
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
C Kraus, J Hoyer, G Vasileiou, M Wunderle, MP Lux, PA Fasching, ...
International journal of cancer 140 (1), 95-102, 2017
1312017
Axonal transport deficits and degeneration can evolve independently in mouse models of amyotrophic lateral sclerosis
P Marinković, MS Reuter, MS Brill, L Godinho, M Kerschensteiner, ...
Proceedings of the National Academy of Sciences 109 (11), 4296-4301, 2012
1262012
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
A Kuechler, MH Willemsen, B Albrecht, CA Bacino, DW Bartholomew, ...
Human genetics 134, 97-109, 2015
1232015
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
G Costain, R Jobling, S Walker, MS Reuter, M Snell, S Bowdin, RD Cohn, ...
European Journal of Human Genetics 26 (5), 740-744, 2018
1222018
Branch-specific microtubule destabilization mediates axon branch loss during neuromuscular synapse elimination
MS Brill, T Kleele, L Ruschkies, M Wang, NA Marahori, MS Reuter, ...
Neuron 92 (4), 845-856, 2016
982016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
MS Reuter, A Riess, U Moog, TA Briggs, KE Chandler, A Rauch, ...
Journal of medical genetics 54 (1), 64-72, 2017
812017
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan, W Engchuan, ...
Cell 185 (23), 4409-4427. e18, 2022
752022
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
MS Reuter, R Jobling, RR Chaturvedi, R Manshaei, G Costain, T Heung, ...
Genetics in Medicine 21 (4), 1001-1007, 2019
682019
Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly
MW Breuss, T Sultan, KN James, RO Rosti, E Scott, D Musaev, B Furia, ...
The American Journal of Human Genetics 99 (1), 228-235, 2016
652016
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
MS Reuter, RR Chaturvedi, E Liston, R Manshaei, RB Aul, S Bowdin, ...
Genetics in Medicine 22 (6), 1015-1024, 2020
642020
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
MS Reuter, S Walker, B Thiruvahindrapuram, J Whitney, I Cohn, ...
Cmaj 190 (5), E126-E136, 2018
632018
Genome sequencing as a diagnostic test in children with unexplained medical complexity
G Costain, S Walker, M Marano, D Veenma, M Snell, M Curtis, S Luca, ...
JAMA network open 3 (9), e2018109-e2018109, 2020
582020
NDST1 missense mutations in autosomal recessive intellectual disability
MS Reuter, L Musante, H Hu, S Diederich, H Sticht, AB Ekici, S Uebe, ...
American Journal of Medical Genetics Part A 164 (11), 2753-2763, 2014
532014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
L Basel-Vanagaite, R Yilmaz, S Tang, MS Reuter, N Rahner, DK Grange, ...
Human genetics 133, 939-949, 2014
392014
Ex vivo imaging of motor axon dynamics in murine triangularis sterni explants
M Kerschensteiner, MS Reuter, JW Lichtman, T Misgeld
Nature protocols 3 (10), 1645-1653, 2008
382008
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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