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Scientific Reports|July 2, 2015
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsKristin Kessler, Ina Wunderlich, Steffen Uebe, et al.Science Signaling|July 22, 2025
Reporter-based screening identifies RAS-RAF mutations as drivers of resistance to active-state RAS inhibitors in colorectal cancerOleksandra Aust, Moritz R T Thiel, Eric Blanc, et al.Prenatal Diagnosis|September 10, 2019
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Georgia Vasileiou, Juliane Hoyer, Christian T Thiel, et al.Journal of Medical Genetics|July 3, 2007
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arraysJuliane Hoyer, Alexander Dreweke, Christian Becker, et al.Arthritis and Rheumatism|February 20, 1999
Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritanceN Goel, T L Ortel, D Bali, et al.Scientific Reports|September 24, 2017
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statureNadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short statureNadine N Hauer, Bernt Popp, Eva Schoeller, et al.Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.Pageof 17