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1.
Graw, J.: Mouse models for microphthalmia, anophthalmia and cataracts. Hum. Genet. 138, 1007-1018 (2019)
2.
Schlicht, K.* et al.: The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus. Hum. Genet. 138, 375–388 (2019)
3.
Bramswig, N.C.* et al.: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. 137, 753-768 (2018)
4.
Fritzen, D.* et al.: De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum. Genet. 137, 401-411 (2018)
5.
Vill, K.* et al.: SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum. Genet. 137, 911-919 (2018)
6.
Wesdorp, M.* et al.: Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Hum. Genet. 137, 389-400 (2018)
7.
Bramswig, N.C.* et al.: Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum. Genet. 136, 179-192 (2017)
8.
Bramswig, N.C.* et al.: Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype. Hum. Genet. 136, 297-305 (2017)
9.
Bramswig, N.C.* et al.: Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum. Genet. 136, 821-834 (2017)
10.
Hempel, M.* et al.: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Hum. Genet. 136, 339-346 (2017)
11.
Parenti, I.* et al.: Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum. Genet. 136, 307-320 (2017)
12.
Brenner, D.R.* et al.: Erratum to: Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls. Hum. Genet. 135, 963-963 (2016)
13.
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)
14.
Bramswig, N.C.* et al.: ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband syndromes. Hum. Genet. 134, 1089-1097 (2015)
15.
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)
16.
Li, Q.* et al.: Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: The CREAM consortium. Hum. Genet. 134, 131-146 (2015)
17.
Turpeinen, H.* et al.: A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure. Hum. Genet. 134, 627-636 (2015)
18.
Ellis, J.* et al.: Large multiethnic candidate gene study for C-reactive protein levels: Identification of a novel association at CD36 in African Americans. Hum. Genet. 133, 985-995 (2014)
19.
Brenner, D.R.* et al.: Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls. Hum. Genet. 132, 579-589 (2013)
20.
Verhoeven, V.J.M.* et al.: Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum. Genet. 131, 1467-1480 (2012)