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Proceedings of the National Academy of Sciences of the United States of America|May 11, 2011
Genomic insights into the physiology and ecology of the marine filamentous cyanobacterium Lyngbya majusculaAdam C Jones, Emily A Monroe, Sheila Podell, et al.American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.American Journal of Respiratory and Critical Care Medicine|April 22, 2006
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defectsNada Hornef, Heike Olbrich, Judit Horvath, et al.The Journal of Experimental Medicine|February 27, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeDaniel Kotlarz, Natalia Ziętara, Gulbu Uzel, et al.Leukemia|March 8, 2019
PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemiaLorenz Bastian, Michael P Schroeder, Cornelia Eckert, et al.Nature|December 5, 2008
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneinsHeymut Omran, Daisuke Kobayashi, Heike Olbrich, et al.American Journal of Human Genetics|October 28, 2008
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armNiki Tomas Loges, Heike Olbrich, Lale Fenske, et al.American Journal of Human Genetics|October 2, 2012
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetryHeike Olbrich, Miriam Schmidts, Claudius Werner, et al.Nature Genetics|December 7, 2010
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationAnita Becker-Heck, Irene E Zohn, Noriko Okabe, et al.Pageof 52