Sebastian Eck

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

Alexander Zimprich, Anna Benet‐Pagès, Walter Struhal et al. · The American Journal of Human Genetics · 2011 · 902 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Erika Souche, Mariëlle Alders et al. · European Journal of Human Genetics · 2015 · 519 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

Jeanette Erdmann, Klaus Stark, Ulrike Esslinger et al. · Nature · 2013 · 283 citations

Medicine, Cardiology, Internal Medicine +12

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild et al. · The American Journal of Human Genetics · 2011 · 236 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès et al. · Human Mutation · 2010 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17