Carsten Bergmann

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa et al. · The American Journal of Human Genetics · 2002 · 510 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu et al. · Nature Genetics · 2011 · 379 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen et al. · The American Journal of Human Genetics · 2011 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Wybo Dondorp, Guido de Wert, Yvonne Bombard et al. · European Journal of Human Genetics · 2015 · 354 citations · Full text

Medicine, Genetics, Obstetrics +17