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Bögershausen, N.* et al.: RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J. Clin. Invest. 125, 3585-3599 (2015)
Bramswig, N.C.* et al.: Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Hum. Genet. 134, 553-568 (2015)
Bramswig, N.C.* et al.: ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband syndromes. Hum. Genet. 134, 1089-1097 (2015)
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)
Kuechler, A.* et al.: De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: Expanding the mutational and clinical spectrum. Hum. Genet. 134, 97-109 (2015)
Kuechler, A.* et al.: Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur. J. Hum. Genet. 23, 753-760 (2014)
Wieczorek, D.* et al.: Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am. J. Hum. Genet. 95, 698-707 (2014)
Rauch, A.* et al.: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380, 1674-1682 (2012)
Rivera-Brugues, N. et al.: Cohen syndrome diagnosis using whole genome arrays. J. Med. Genet. 48, 136-140 (2011)