Browsing by Author "Scheffer, H."

Now showing items 1-50 of 145

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
Bremer, Jeroen; Heijden, Elisabeth H. van der; Eichhorn, Daryll S.; Meijer, Rowdy; Lemmink, Henny H.; Scheffer, H. ; Pasmooij, A.M.; Akker, Peter C. Van den
2019, Article / Letter to editor (Molecular Therapy - Nucleic Acids, vol. 18, (2019), pp. 465-475)
Genotype-Guided Thiopurine Dosing Does not Lead to Additional Costs in Patients With Inflammatory Bowel Disease
Sluiter, R.L.; Marrewijk, C.J. van ; Jong, D.J. de ; Scheffer, H. ; Guchelaar, H.J.; Derijks, L.J.; Vermeulen, S.H. ; Verbeek, A.L.M. ; Franke, B. ; Wilt, G.J. van der ; Kievit, W. ; Coenen, M.J.H. et al. sine al.
2019, Article / Letter to editor (Journal of Crohn's and Colitis, vol. 13, iss. 7, (2019), pp. 838-845)
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries
Liehr, Thomas; Carreira, I.M.; Balogh, Zsofia; Dominguez Garrido, Elena; Verdorfer, Irmgard; Coviello, D.A.; Scheffer, H. ; Rincic, M.; Williams, Heather E.
2019, Article / Letter to editor (European Journal of Human Genetics, vol. 27, iss. 8, (2019), pp. 1168-1174)
The glutathione transferase Mu null genotype leads to lower 6-MMPR levels in patients treated with azathioprine but not with mercaptopurine
Broekman, M.M.T.J.; Wong, D.R.; Wanten, G.J.A. ; Roelofs, H.M. ; Marrewijk, C.J. van ; Klungel, O.H.; Verbeek, A.L.M. ; Scheffer, H. ; Coenen, M.J. ; Jong, D.J. de
2018, Article / Letter to editor (Pharmacogenomics Journal, vol. 18, iss. 1, (2018), pp. 160-166)
Patients' beliefs about medicine are associated with early thiopurine discontinuation in patients with inflammatory bowel diseases
Broekman, M.M.T.J.; Coenen, M.J.H. ; Wanten, G.J.A. ; Marrewijk, C.J. van ; Kievit, W. ; Klungel, O.H.; Verbeek, A.L.M. ; Wong, D.R.; Hooymans, P.M.; Guchelaar, H.J.; Scheffer, H. ; Derijks, L.J.; Bouvy, M.L.; Jong, D.J. de et al. sine al.
2018, Article / Letter to editor (European Journal of Gastroenterology & Hepatology, vol. 30, iss. 2, (2018), pp. 167-173)
No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson's disease in nine ADHD candidate SNPs
Geissler, J.M.; Romanos, M.; Gerlach, M.; Berg, D; Schulte, C.; Scheffer, H. ; et al.
2017, Article / Letter to editor (Attention Deficit and Hyperactivity Disorders, vol. 9, iss. 2, (2017), pp. 121-127)
Critical points for an accurate human genome analysis
White, S.J.; Laros, J.F.; Bakker, E. de; Cambon-Thomsen, A.; Eden, M.; Leonard, S.; Lochmuller, H.; Matthijs, G.; Mattocks, C.; Patton, S.; Payne, K.; Scheffer, H. ; Souche, E.; Thomassen, E.; Thompson, R.; Traeger-Synodinos, J.; Vooren, S. van der; Janssen, B.; Dunnen, J.T. den et al. sine al.
2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 8, (2017), pp. 912-921)
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; Li, Y.; Yogi, P.; Amin, N.; Duijn, C.M. van; Morris, H.R.; Brice, A.; Singleton, A.B.; David, D.C.; Nollen, E.A.; Jain, S.; Shulman, J.M.; Heutink, P.; Bloem, B. ; Post, B.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2017, Article / Letter to editor (Genome Biology, vol. 18, iss. 1, (2017), pp. 22)
Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype
Broekman, M.M.T.J.; Coenen, M.J.H. ; Wanten, G.J.A. ; Marrewijk, C.J. van ; Klungel, O.H.; Verbeek, A.L.M. ; Hooymans, P.M.; Guchelaar, H.J.; Scheffer, H. ; Derijks, L.J.; Wong, D.R.; Jong, D.J. de et al. sine al.
2017, Article / Letter to editor (Alimentary Pharmacology & Therapeutics, vol. 46, iss. 10, (2017), pp. 953-963)
More Dose-dependent Side Effects with Mercaptopurine over Azathioprine in IBD Treatment Due to Relatively Higher Dosing
Broekman, M.M.T.J.; Coenen, M.J.H. ; Marrewijk, C.J. van ; Wanten, G.J.A. ; Wong, D.R.; Verbeek, A.L.M. ; Klungel, O.H.; Hooymans, P.M.; Guchelaar, H.J.; Scheffer, H. ; Derijks, L.J.; Jong, D.J. de et al. sine al.
2017, Article / Letter to editor (Inflammatory Bowel Diseases, vol. 23, iss. 10, (2017), pp. 1873-1881)
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Haer-Wigman, L.; Zelst-Stams, W.A.G. van; Pfundt, R.P. ; Born, L.I. van den; Klaver, C.C.W.; Verheij, J.B.G.M.; Hoyng, C.B. ; Breuning, M.H.; Boon, C.J.F. ; Kievit, A.J.; Verhoeven, V.J.; Pott, J.W.; Sallevelt, S.C.; Hagen, J.M. van; Plomp, A.S.; Kroes, H.Y.; Lelieveld, S.H.; Hehir-Kwa, J.Y. ; Castelein, S.; Nelen, M.R. ; Scheffer, H. ; Lugtenberg, D. ; Cremers, F.P.M. ; Hoefsloot, L.; Yntema, H.G. et al. sine al.
2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 5, (2017), pp. 591-599)
European registration process for Clinical Laboratory Geneticists in genetic healthcare
Liehr, T.; Carreira, I.M.; Aktas, D.; Bakker, E. de; Rodriguez de Alba, M.; Coviello, D.A.; Florentin, L.; Scheffer, H. ; Rincic, M.
2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 5, (2017), pp. 515-519)
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease
Robak, L.A.; Jansen, I.E.; Rooij, J van; Uitterlinden, A.G.; Kraaij, R.; Jankovic, J.; Heutink, P.; Shulman, J.M.; Bloem, B. ; Post, B.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2017, Article / Letter to editor (Brain, vol. 140, iss. 12, (2017), pp. 3191-3203)
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders [Corrigendum]
Warrenburg, B.P.C. van de ; Schouten, M.I.; Bot, S.T. de; Vermeer, S.; Meijer, R.; Pennings, M.; Gilissen, C.; Willemsen, M.A.A.P. ; Scheffer, H. ; Kamsteeg, E.J.
2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 3, (2017), pp. 393)
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Zazo Seco, C.; Wesdorp, F.M.; Feenstra, I. ; Pfundt, R.P. ; Hehir-Kwa, J.Y. ; Lelieveld, S.H.; Castelein, S.; Gilissen, C.F. ; Wijs, I.J. de; Admiraal, R.J.C. ; Pennings, R.J.E. ; Kunst, H.P.M. ; Kamp, J.M. van de; Tamminga, S.; Houweling, A.C.; Plomp, A.S.; Maas, S.M.; Koning-Gans, P.A. de; Kant, S.G.; Geus, C.M. de; Frints, S.G.; Vanhoutte, E.K.; Dooren, M.F. van; Boogaard, M.J. van den; Scheffer, H. ; Nelen, M.R. ; Kremer, H. ; Hoefsloot, L.H. ; Schraders, M. ; Yntema, H.G. et al. sine al.
2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 3, (2017), pp. 308-314)
Early Assessment of Thiopurine Metabolites Identifies Patients at Risk of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease
Wong, D.R.; Coenen, M.J.H. ; Vermeulen, S.H. ; Derijks, L.J.; Marrewijk, C.J. van ; Klungel, O.H.; Scheffer, H. ; Franke, B. ; Guchelaar (LUMC), H.J.; Jong, D.J. de ; Engels, L.G.; Verbeek, A.L.M. ; Hooymans, P.M. et al. sine al.
2017, Article / Letter to editor (Journal of Crohn's and Colitis, vol. 11, iss. 2, (2017), pp. 175-184)
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Pfundt, R.P. ; Rosario, M. del; Vissers, L.E.L.M. ; Kwint, M.P.; Janssen, I.M. ; Leeuw, N. de ; Yntema, H.G. ; Nelen, M.R. ; Lugtenberg, D. ; Kamsteeg, E.J. ; Wieskamp, N.A. ; Stegmann, A.P.; Stevens, S.J.; Rodenburg, R.J.T. ; Simons, A. ; Mensenkamp, A.R. ; Rinne, T.K. ; Gilissen, C.F. ; Scheffer, H. ; Veltman, J.A. ; Hehir-Kwa, J.Y. et al. sine al.
2017, Article / Letter to editor (Genetics in Medicine, vol. 19, iss. 6, (2017), pp. 667-675)
Early prediction of thiopurine-induced hepatotoxicity in inflammatory bowel disease
Wong, D.R.; Coenen, M.J.H. ; Derijks, L.J.; Vermeulen, S.H. ; Marrewijk, C.J. van ; Klungel, O.H.; Scheffer, H. ; Franke, B. ; Guchelaar (LUMC), H.J.; Jong, D.J. de ; Engels, L.G.; Verbeek, A.L.M. ; Hooymans, P.M. et al. sine al.
2017, Article / Letter to editor (Alimentary Pharmacology & Therapeutics, vol. 45, iss. 3, (2017), pp. 391-402)
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
Lesage, S.; Drouet, V.; Majounie, E.; Deramecourt, V.; Jacoupy, M.; Nicolas, A.; Cormier-Dequaire, F.; Hassoun, S.M.; Pujol, C.; Ciura, S.; Erpapazoglou, Z.; Usenko, T.; Maurage, C.A.; Sahbatou, M.; Liebau, S.; Ding, J.; Bilgic, B.; Emre, M.; Erginel-Unaltuna, N.; Guven, G.; Tison, F.; Tranchant, C.; Vidailhet, M.; Corvol, J.C.; Krack, P.; Leutenegger, A.L.; Nalls, M.A.; Hernandez, D.G.; Heutink, P.; Gibbs, J.R.; Hardy, J.; Wood, N.W.; Gasser, T.; Durr, A.; Deleuze, J.F.; Tazir, M.; Destee, A.; Lohmann, E.; Kabashi, E.; Singleton, A.; Corti, O.; Brice, A.; Scheffer, H. ; Bloem, B.R. ; et al. et al. sine al.
2016, Article / Letter to editor (American Journal of Human Genetics, vol. 98, iss. 3, (2016), pp. 500-513)
No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome
Vliet, J. van; Verrips, A. ; Tieleman, A.A.; Scheffer, H. ; Cats, H.A.; Broeder, A.A. den; Engelen, B.G.M. van
2016, Article / Letter to editor (Neuromuscular Disorders, vol. 26, iss. 6, (2016), pp. 370-373)
Guidelines for diagnostic next-generation sequencing
Matthijs, G.; Souche, E.; Alders, M.; Corveleyn, A.; Eck, S. Van; Feenstra, I. ; Race, V.; Sistermans, E.; Sturm, M.; Weiss, M.; Yntema, H.G. ; Bakker, E. de; Scheffer, H. ; Bauer, P. et al. sine al.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 1, (2016), pp. 2-5)
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders
Warrenburg, B.P.C. van de ; Schouten, M.I.; Bot, S.T. de; Vermeer, S.; Meijer, R.; Pennings, M.; Gilissen, C.; Willemsen, M.A.A.P. ; Scheffer, H. ; Kamsteeg, E.J.
2016, Article / Letter to editor (European Journal of Human Genetics, vol. 24, iss. 10, (2016), pp. 1460-1466)
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa
Akker, P.C. van den; Pasmooij, A.M.; Meijer, R.; Scheffer, H. ; Jonkman, M.F.
2015, Article / Letter to editor (British Journal of Dermatology, vol. 172, iss. 3, (2015), pp. 778-781)
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases
Nalls, M.A.; Bras, J.; Hernandez, D.G.; Keller, M.F.; Majounie, E.; Renton, A.E.; Saad, M.; Jansen, I.; Guerreiro, R.; Lubbe, S.; Plagnol, V.; Gibbs, J.R.; Schulte, C.; Pankratz, N.; Sutherland, M.; Bertram, L.; Lill, C.M.; DeStefano, A.L.; Faroud, T.; Eriksson, N.; Tung, J.Y.; Edsall, C.; Nichols, N.; Brooks, J.; Arepalli, S.; Pliner, H.; Letson, C.; Heutink, P.; Martinez, M.; Gasser, T.; Traynor, B.J.; Wood, N.; Hardy, J.; Singleton, A.B.; Bloem, B.R. ; Post, B.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2015, Article / Letter to editor (Neurobiology of Aging, vol. 36, iss. 3, (2015), pp. 1605.e7-12)
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption
Cornelis, M.C.; Byrne, E.M.; Esko, T.; Nalls, M.A.; Ganna, A.; Paynter, N.; Monda, K.L.; Amin, N.; Fischer, K.; Renstrom, F.; Ngwa, J.S.; Huikari, V.; Cavadino, A.; Nolte, I.M.; Teumer, A.; Yu, K.; Marques-Vidal, P.; Rawal, R.; Manichaikul, A.; Wojczynski, M.K.; Vink, J.M.; Zhao, J.H.; Burlutsky, G.; Lahti, J.; Mikkila, V.; Lemaitre, R.N.; Eriksson, J.; Musani, S.K.; Tanaka, T.; Geller, F.; Luan, J.; Hui, J.; Magi, R.; Dimitriou, M.; Garcia, M.E.; Ho, W.K.; Wright, M.J.; Rose, L.M.; Magnusson, P.K.; Pedersen, N.L.; Couper, D.; Oostra, B.A.; Hofman, A.; Ikram, M.A.; Tiemeier, H.W.; Uitterlinden, A.G.; Rooij, F.J. van; Barroso, I.; Johansson, I.; Xue, L.; Kaakinen, M.; Milani, L.; Power, C.; Snieder, H.; Stolk, R.P.; Baumeister, S.E.; Biffar, R.; Gu, F.; Bastardot, F.; Kutalik, Z.; Jacobs, D.R., Jr.; Forouhi, N.G.; Mihailov, E.; Lind, L.; Lindgren, C.; Michaelsson, K.; Morris, A.; Jensen, M.; Khaw, K.T.; Luben, R.N.; Wang, J.J.; Mannisto, S.; Perala, M.M.; Kahonen, M.; Lehtimaki, T.; Viikari, J.; Mozaffarian, D.; Mukamal, K.; Psaty, B.M.; Doring, A.; Heath, A.C.; Montgomery, G.W.; Dahmen, N.; Carithers, T.; Tucker, K.L.; Ferrucci, L.; Boyd, H.A.; Melbye, M.; Treur, J.L. ; Mellstrom, D.; Hottenga, J.J.; Prokopenko, I.; Tonjes, A.; Deloukas, P.; Kanoni, S.; Lorentzon, M.; Houston, D.K.; Liu, Y.; Danesh, J.; Rasheed, A.; Bloem, B.R. ; Post, B.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2015, Article / Letter to editor (Molecular Psychiatry, vol. 20, iss. 5, (2015), pp. 647-656)
RYR1-related myopathies: a wide spectrum of phenotypes throughout life
Snoeck, M.; Engelen, B.G.M. van ; Kusters, B. ; Lammens, M.M. ; Meijer, R.; Molenaar, J.P.F.; Raaphorst, J.; Verschuuren-Bemelmans, C.C.; Straathof, C.S.; Sie, L.T.L. ; Coo, I.F.M. de; Pol, W.L. van der; Visser, M de; Scheffer, H. ; Treves, S.; Jungbluth, H.; Voermans, N.C. ; Kamsteeg, E.J. et al. sine al.
2015, Article / Letter to editor (European Journal of Neurology, vol. 22, iss. 7, (2015), pp. 1094-1112)
Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing
Diekstra, A.; Bosgoed, E.A.J.; Rikken, A.; Lier, B. van; Kamsteeg, E.J. ; Tychon, M.W.J.; Derks, R.C.; Soest, R.A.; Mensenkamp, A.R. ; Scheffer, H. ; Neveling, K. ; Nelen, M.R. et al. sine al.
2015, Article / Letter to editor (Clinical Chemistry, vol. 61, iss. 1, (2015), pp. 154-162)
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Kwon, K.Y.; Huh, K.; Eun, B.L.; Yoo, H.W.; Kamsteeg, E.J. ; Scheffer, H. ; Koh, S.B.
2015, Article / Letter to editor (Canadian Journal of Neurological Sciences, vol. 42, iss. 4, (2015), pp. 271-273)
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood
Weller, C.M.; Leen, W.G. ; Neville, B.G.; Duncan, J.S.; Vries, B. de ; Geilenkirchen, M.A.; Haan, J.; Kamsteeg, E.J. ; Ferrari, M.D.; Maagdenberg, A.M. van den; Willemsen, M.A. ; Scheffer, H. ; Terwindt, G.M. et al. sine al.
2015, Article / Letter to editor (Cephalalgia, vol. 35, iss. 1, (2015), pp. 10-15)
Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease
Coenen, M.J.H. ; Jong, D.J. de ; Marrewijk, C.J. van ; Derijks, L.J.; Vermeulen, S.H. ; Wong, D.R.; Klungel, O.H.; Verbeek, A.L.M. ; Hooymans, P.M.; Peters, W.H.; Morsche, R.H. Te; Newman, W.G.; Scheffer, H. ; Guchelaar (LUMC), H.J.; Franke, B. et al. sine al.
2015, Article / Letter to editor (Gastroenterology, vol. 149, iss. 4, (2015), pp. 907-917.e7)
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
Vissers, L.E.L.M. ; Bonetti, M.; Paardekooper-Overman, J.; Nillesen, W.M.; Frints, S.G.; Ligt, J. de; Zampino, G.; Justino, A.; Machado, J.C.; Schepens, M.; Brunner, H.G. ; Veltman, J.A. ; Scheffer, H. ; Gros, P.; Costa, J.L.; Tartaglia, M.; Burgt, I. van der ; Yntema, H.G. ; Hertog, J. den et al. sine al.
2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 3, (2015), pp. 317-324)
Clinical exome sequencing in daily practice: 1,000 patients and beyond
Zelst-Stams, W.A.G. van; Scheffer, H. ; Veltman, J.A.
2014, Article / Letter to editor (Genome Medicine, vol. 24, iss. 6, (2014), pp. 2)
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa
Kiritsi, D.; Garcia, M.; Brander, R.; Has, C.; Meijer, R.; Escamez, M. Jose; Kohlhase, J.; Akker, P.C. van den; Scheffer, H. ; Jonkman, M.F.; Rio, M. del; Bruckner-Tuderman, L.; Pasmooij, A.M. et al. sine al.
2014, Article / Letter to editor (Journal of Investigative Dermatology, vol. 134, iss. 8, (2014), pp. 2097-2104)
Genetic comorbidities in Parkinson's disease
Nalls, M.A.; Saad, M.; Noyce, A.J.; Keller, M.F.; Schrag, A.; Bestwick, J.P.; Traynor, B.J.; Gibbs, J.R.; Hernandez, D.G.; Cookson, M.R.; Morris, H.R.; Williams, N.; Gasser, T.; Heutink, P.; Wood, N.; Hardy, J.; Martinez, M.; Singleton, A.B.; Bloem, B.R. ; Post, B.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2014, Article / Letter to editor (Human Molecular Genetics, vol. 23, iss. 3, (2014), pp. 831-841)
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease
Dong, J.; Gao, J.; Nalls, M.; Gao, X.; Huang, X.; Han, J.; Singleton, A.B.; Chen, H.; Warrenburg, B.P.C. van de ; Bloem, B.R. ; Post, B.; Scheffer, H. ; et al. et al. sine al.
2014, Article / Letter to editor (Neurobiology of Aging, vol. 35, iss. 6, (2014), pp. 1512 e5-10)
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls, M.A.; Pankratz, N.; Lill, C.M.; Do, C.B.; Hernandez, D.G.; Saad, M.; DeStefano, A.L.; Kara, E.; Bras, J.; Sharma, M.; Schulte, C.; Keller, M.F.; Arepalli, S.; Letson, C.; Edsall, C.; Stefansson, H.; Liu, X.; Pliner, H.; Lee, J.H. van der; Cheng, R.; Ikram, M.A.; Ioannidis, J.P.; Hadjigeorgiou, G.M.; Bis, J.C.; Martinez, M.; Perlmutter, J.S.; Goate, A.; Marder, K.; Fiske, B.; Sutherland, M.; Xiromerisiou, G.; Myers, R.H.; Clark, L.N.; Stefansson, K.; Hardy, J.A.; Heutink, P.; Chen, H.; Wood, N.W.; Houlden, H.; Payami, H.; Brice, A.; Scott, W.K.; Gasser, T.; Bertram, L.; Eriksson, N.; Foroud, T.; Singleton, A.B.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2014, Article / Letter to editor (Nature Genetics, vol. 46, iss. 9, (2014), pp. 989-993)
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study
Renaud, M.; Anheim, M.; Kamsteeg, E.J. ; Mallaret, M.; Mochel, F.; Vermeer, S. ; Drouot, N.; Pouget, J.; Redin, C.; Salort-Campana, E.; Kremer, H.P.H. ; Verschuuren-Bemelmans, C.C.; Muller, J.; Scheffer, H. ; Durr, A.; Tranchant, C.; Koenig, M. et al. sine al.
2014, Article / Letter to editor (Jama Neurology, vol. 71, iss. 10, (2014), pp. 1305-1310)
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
Beilina, A.; Rudenko, I.N.; Kaganovich, A.; Civiero, L.; Chau, H.; Kalia, S.K.; Kalia, L.V.; Lobbestael, E.; Chia, R.; Ndukwe, K.; Ding, J.; Nalls, M.A.; Olszewski, M.; Hauser, D.N.; Kumaran, R.; Lozano, A.M.; Baekelandt, V.; Greene, L.E.; Taymans, J.M.; Greggio, E.; Cookson, M.R.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2014, Article / Letter to editor (Proceedings of the National Academy of Sciences USA, vol. 111, iss. 7, (2014), pp. 2626-2631)
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics
El, C.G. van; Cornel, M.C.; Borry, P.; Hastings, R.J.; Fellmann, F.; Hodgson, S.; Howard, H.C.; Cambon-Thomsen, A.; Knoppers, B.M.; Meijers-Heijboer, H.; Scheffer, H. ; Tranebjaerg, L.; Dondorp, W.; Wert, G.M.W.R. de ; Committee, E.P.a.P.P. et al. sine al.
2013, Article / Letter to editor (European Journal of Human Genetics, vol. 21, iss. 6, (2013), pp. 580-584)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism
Klebe, S.; Golmard, J.L.; Nalls, M.A.; Saad, M.; Singleton, A.B.; Bras, J.M.; Hardy, J.; Simon-Sanchez, J.; Heutink, P.; Kuhlenbaumer, G.; Charfi, R.; Klein, C.; Hagenah, J.; Gasser, T.; Wurster, I.; Lesage, S.; Lorenz, D.; Deuschl, G.; Durif, F.; Pollak, P.; Damier, P.; Tison, F.; Durr, A.; Amouyel, P.; Lambert, J.C.; Tzourio, C.; Maubaret, C.; Charbonnier-Beaupel, F.; Tahiri, K.; Vidailhet, M.; Martinez, M.; Brice, A.; Corvol, J.C.; Bloem, B.R. ; Post, B.; Scheffer, H. ; Warrenburg, B.P.C. van de ; et al. et al. sine al.
2013, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 84, iss. 6, (2013), pp. 666-673)
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients
Croonen, E.A.; Nillesen, W.; Schrander, C.; Jongmans, M.; Scheffer, H. ; Noordam, C. ; Draaisma, J.M.T. ; Burgt, I. van der ; Yntema, H.G.
2013, Article / Letter to editor (Molecular Syndromology, vol. 4, iss. 5, (2013), pp. 227-234)
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings
Croonen, E.A.; Nillesen, W.M.; Stuurman, K.E.; Oudesluijs, G.; Laar, I.M. van de; Martens, L.; Ockeloen, C.; Mathijssen, I.B.; Schepens, M.; Ruiterkamp-Versteeg, M.; Scheffer, H. ; Faas, B.H.W. ; Burgt, I. van der ; Yntema, H.G. et al. sine al.
2013, Article / Letter to editor (European Journal of Human Genetics, vol. 21, iss. 9, (2013), pp. 936-942)
Mutations in BICD2, which encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Neveling, K. ; Martinez-Carrera, L.; Hölker, I.; Heister, A. ; Verrips, A. ; Hosseini-Barkooie, S.M.; Gilissen, C.F.H.A. ; Vermeer, S. ; Pennings, M.C.P.; Meijer, R.; Riele, M.G.E. te ; Frijns, C.J.; Suchowersky, O.; MacLaren, L.; Rudnik-Schöneborn, S.; Sinke, R.J. ; Zerres, K.; Lowry, R.B.; Lemmink, H.H. ; Garbes, L.; Veltman, J.A. ; Schelhaas, H.J. ; Scheffer, H. ; Wirth, B. et al. sine al.
2013, Article / Letter to editor (American Journal of Human Genetics, vol. 92, (2013), pp. 946-954)
Mutational analysis of TARDBP in Parkinson's disease
Blitterswijk, M. van; Es, M.A. van; Verbaan, D.; Hilten, J.J. van; Scheffer, H. ; Warrenburg, B.P.C. van de ; Veldink, J.H.; Berg, L.H. van den
2013, Article / Letter to editor (Neurobiology of Aging, vol. 34, iss. 5, (2013), pp. 1517 e1-3)
Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis
Umicevic-Mirkov, M. ; Cui, J.; Vermeulen, S. ; Stahl, E.A.; Toonen, E.J.M. ; Makkinje, R.R. ; Lee, A.T.; Huizinga, T.W.J.; Allaart, R.; Barton, A.; Mariette, X.; Miceli, C.R.; Criswell, L.A.; Tak, P.P.; Vries, N de; Saevarsdottir, S.; Padyukov, L.; Bridges Jr, S.L.; Schaardenburg, D.J. van; Jansen, T.L.Th.A.; Dutmer, E.A.; Laar, M.A. van der; Barrera, P. ; Radstake, T.R.D.J. ; Riel, P.L.C.M. van ; Scheffer, H. ; Franke, B. ; Brunner, H.G. ; Plenge, R.M.; Gregersen, P.K.; Guchelaar (LUMC), H.J.; Coenen, M.J.H. et al. sine al.
2013, Article / Letter to editor (Annals of the Rheumatic Diseases, vol. 72, iss. 8, (2013), pp. 1375-1381)
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients
Bot, S.T. de ; Burggraaff, R.C.; Herkert, J.C.; Schelhaas, H.J. ; Post, B.; Diekstra, A.; Vliet, R.O. van; Knaap, M.S. van der; Kamsteeg, E.J. ; Scheffer, H. ; Warrenburg, B.P.C. van de ; Verschuuren-Bemelmans, C.C.; Kremer, H.P.H. et al. sine al.
2013, Article / Letter to editor (European Journal of Human Genetics, vol. 21, iss. 11, (2013), pp. 1312-1315)
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
Bot, S.T. de ; Veldink, J.H.; Vermeer, S. ; Mensenkamp, A.R. ; Brugman, F.; Scheffer, H. ; Berg, L.H. van den ; Kremer, H.P.H. ; Kamsteeg, E.J. ; Warrenburg, B.P.C. van de
2013, Article / Letter to editor (Journal of Neurology, vol. 260, iss. 3, (2013), pp. 869-875)
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
Neveling, K. ; Feenstra, I. ; Gilissen, C.; Hoefsloot, L.H. ; Kamsteeg, E.J. ; Mensenkamp, A.R. ; Rodenburg, R.J.T. ; Yntema, H.G. ; Spruijt, L. ; Vermeer, S. ; Rinne, T.; Gassen, K.L.I. van ; Bodmer, D. ; Lugtenberg, D. ; Reuver, R. de; Buijsman, W.; Derks, R.C.; Wieskamp, N.; Heuvel, B. van den ; Ligtenberg, M.J.L. ; Kremer, H. ; Koolen, D.A. ; Warrenburg, B.P.C. van de ; Cremers, F.P.M. ; Marcelis, C.L.M. ; Smeitink, J.A.M. ; Wortmann, S.B.; Zelst-Stams, W.A.G. van; Veltman, J.A. ; Brunner, H.G. ; Scheffer, H. ; Nelen, M.R. et al. sine al.
2013, Article / Letter to editor (Human Mutation, vol. 34, iss. 12, (2013), pp. 1721-1726)
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene
Bot, S.T. de ; Vermeer, S. ; Buijsman, W.; Heister, A. ; Voorendt, M.; Verrips, A. ; Scheffer, H. ; Kremer, H.P.H. ; Warrenburg, B.P.C. van de ; Kamsteeg, E.J.
2013, Article / Letter to editor (Journal of Neurology, vol. 260, iss. 7, (2013), pp. 1765-1769)
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review
Leen, W.G. ; Wevers, R.A. ; Kamsteeg, E.J. ; Scheffer, H. ; Verbeek, M.M. ; Willemsen, M.A.A.P.
2013, Article / Letter to editor (Jama Neurology, vol. 70, iss. 11, (2013), pp. 1440-1444)

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