Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018) Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, et al. Journal article Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID (2017) Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, et al. Journal article Exome Pool-Seq in neurodevelopmental disorders (2017) Popp B, Ekici AB, Thiel C, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C Journal article Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2016) Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, et al. Journal article Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2016) Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, et al. Journal article Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome (2015) Kuechler A, Zink AM, Wieland T, Luedecke HJ, Cremer K, Salviati L, Magini P, et al. Journal article De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (2015) Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, et al. Journal article A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome (2015) Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, et al. Journal article Genome-wide UPD screening in patients with intellectual disability (2014) Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, et al. Journal article Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome (2011) Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, et al. Journal article