Hans Scheffer

发表

Targeted Next Generation Sequencing As A Powerful Diagnostic Tool For RP

Christian Gilissen, Joris A. Veltman, Kornelia Neveling, 2011 .

Massively parallel sequencing of ataxia genes after array‐based enrichment

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Human mutation.

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Pascal Borry, Wybo Dondorp, Heidi C Howard, 2013, European journal of human genetics : EJHG.

Validation Study of Existing Gene Expression Signatures for Anti-TNF Treatment in Patients with Rheumatoid Arthritis

Christian Gilissen, Erik J. M. Toonen, Marieke J. H. Coenen, 2012, PloS one.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Jean-François Dartigues, Günther Deuschl, Yoav Ben-Shlomo, 2017, Genome Biology.

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

Martin Lammens, Hans Scheffer, Jaco W Pasman, 2005, Pediatric neurology.

Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.

Henk-Jan Guchelaar, Barbara Franke, Hans Scheffer, 2015, Gastroenterology.

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

Hans Scheffer, H. Scheffer, E. Waanders, 2003, Human mutation.

Diagnostic exome sequencing in persons with severe intellectual disability.

Christian Gilissen, Alexander Hoischen, Han G. Brunner, 2012, New England Journal of Medicine.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Milan Macek, Teresa Casals, 2009, European Journal of Human Genetics.

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Edwin Cuppen, Christine Klein, Dagmar Verbaan, 2011, Annals of neurology.

A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.