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American Journal of Human Genetics|December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisEva Klopocki, Silke Lohan, Francesco Brancati, et al.
Plos Biology|November 17, 2020
Local retinoic acid signaling directs emergence of the extraocular muscle functional unitGlenda Evangelina Comai, Markéta Tesařová, Valérie Dupé, et al.
Plos Genetics|December 4, 2009
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINPetra Seemann, Anja Brehm, Jana König, et al.
American Journal of Human Genetics|February 7, 2008
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersAnne Michalk, Sigmar Stricker, Jutta Becker, et al.
American Journal of Human Genetics|March 1, 2016
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesEllen Knierim, Hiromi Hirata, Nicole I Wolf, et al.
Nature Communications|December 15, 2025
LncRNA CISTR-ACT regulates cell size in human and mouse by guiding FOSL2Katerina Kiriakopulos, Katty Soleimanpour, Brandon J McMurray, et al.
American Journal of Human Genetics|July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsSevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.
Journal of Medical Genetics|December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki, Silke Lohan, Sandra C Doelken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
Nature Communications|April 11, 2023
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformationUirá Souto Melo, Jerome Jatzlau, Cesar A Prada-Medina, et al.
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