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Hans Scheffer
Hans Scheffer
Assoc. Prof. Clinical Molecular Genetics, Radboudumc
Email confirmado em radboudumc.nl
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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez, M Saad, ...
Nature genetics 46 (9), 989-993, 2014
19922014
Diagnostic exome sequencing in persons with severe intellectual disability
J De Ligt, MH Willemsen, BWM Van Bon, T Kleefstra, HG Yntema, T Kroes, ...
New England Journal of Medicine 367 (20), 1921-1929, 2012
17412012
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
International Parkinson Disease Genomics Consortium
The Lancet 377 (9766), 641-649, 2011
10042011
Guidelines for diagnostic next-generation sequencing
G Matthijs, E Souche, M Alders, A Corveleyn, S Eck, I Feenstra, V Race, ...
European Journal of Human Genetics 24 (1), 2-5, 2016
6322016
Whole-genome sequencing in health care
CG Van El, MC Cornel, P Borry, RJ Hastings, F Fellmann, SV Hodgson, ...
European Journal of Human Genetics 21 (6), 580-584, 2013
5252013
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen, DBV De Bernabé, ...
Journal of medical genetics 42 (12), 907-912, 2005
4622005
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
G Van der Steege, PM Grootscholten, P Van der Vlies, TG Draaijers, ...
The Lancet 345 (8955), 985-986, 1995
4551995
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ...
Brain 133 (3), 655-670, 2010
4232010
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy
S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ...
The American Journal of Human Genetics 98 (3), 500-513, 2016
4102016
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
X Estivill, C Bancells, C Ramos
Human mutation 10 (2), 135-154, 1997
3981997
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ...
Human mutation 34 (12), 1721-1726, 2013
3952013
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ...
Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014
3802014
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ...
Brain 140 (12), 3191-3203, 2017
3732017
Next‐generation genetic testing for retinitis pigmentosa
K Neveling, RWJ Collin, C Gilissen, RAC Van Huet, L Visser, MP Kwint, ...
Human mutation 33 (6), 963-972, 2012
3272012
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
BPC Van de Warrenburg, RJ Sinke, CC Verschuuren–Bemelmans, ...
Neurology 58 (5), 702-708, 2002
3272002
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations
E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ...
European Journal of Human Genetics 17 (1), 51-65, 2009
3212009
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
MF Jonkman, H Scheffer, R Stulp, HH Pas, M Nijenhuis, K Heeres, ...
Cell 88 (4), 543-551, 1997
3061997
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
JM Cobben, G Van der Steege, P Grootscholten, M De Visser, H Scheffer, ...
American journal of human genetics 57 (4), 805, 1995
2581995
Association between angiotensin-converting-enzyme gene polymorphism and failure of renoprotective therapy
GG van Essen, PL Rensma, D de Zeeuw, WJ Sluiter, AJ Apperloo, ...
The Lancet 347 (8994), 94-95, 1996
2521996
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy
K Nikopoulos, C Gilissen, A Hoischen, CE van Nouhuys, FN Boonstra, ...
The American Journal of Human Genetics 86 (2), 240-247, 2010
2482010
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