Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G (2013)
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations
Nutr Metab Cardiovasc Dis 23: 732

Moennig G, Wiebusch H, Enbergs A, Dorszewski A, Kerber S, Schulte H, Vielhauer C, Haverkamp W, Assmann G, Breithardt G, Funke H (2000)
Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography
Atherosclerosis 149: 395

Mayatepek E, Seedorf U, Wiebusch H, Lenhartz H, Assmann G (1999)
Fatal genetic defect causing Wolman disease.
J Inherit Metab Dis 22: 93

Ellinghaus P, Seedorf U, Assmann G (1998)
Cloning and sequencing of a novel murine liver carboxylesterase cDNA
Biochimica & Biophysica Acta 1397: 175

James RW, Blatter Garin MC, Calabresi L, Miccoli R, von Eckardstein A, Tilly-Kiesi M, Taskinen MR, Assmann G, Franceschini G (1998)
Modulated serum activities and concentrations of paraoxonase in high density lipoprotein deficiency states
Atherosclerosis 139: 77

Knudsen P, Antikainen M, Uusi-Oukari M, Ehnholm S, Lahdenpera S, Bensadoun A, Funke H, Wiebusch H, Assmann G, Taskinen MR, Ehnholm C (1997)
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene
Atherosclerosis 128: 165

Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ (1996)
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency
Neth J Med 49: 189

Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G (1996)
A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease
J Lipid Res 37: 35

Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, Kastelein JJ (1996)
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)
J Clinical Investigation 98: 358

Muntoni S, Wiebusch H, Funke H, Seedorf U, Roskos M, Schulte H, Saku K, Arakawa K, Balestrieri A, Assmann G (1996)
A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations
Hum Genet 97: 265

Owen JS, Wiebusch H, Cullen P, Watts GF, Lima VL, Funke H, Assmann G (1996)
Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
Hum Mutat 8: 79

Wiebusch H, Muntoni S, Funke H, Lu F, Seedorf U, Oberle S, Schwarzer U, Assmann G (1996)
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD)
Clin Genet 50: 106

Wiebusch H, Funke H, Bruin T, Bucher H, von Eckardstein A, Kastelein JJ, Assmann G (1996)
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia
Hum Mutat 8: 381

Wiebusch H, Funke H, Santer R, Richter W, Assmann G (1996)
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia
Hum Mutat 8: 392

Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ (1995)
A unique genetic and biochemical presentation of fish-eye disease
J Clinical Investigation 96: 2783

Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G (1995)
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
Hum Genet 95: 491

Seedorf U, Wiebusch H, Muntoni S, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G (1995)
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease
Arterioscler Thromb Vasc Biol 15: 773

Wiebusch H, Cullen P, Owen JS, Collins D, Sharp PS, Funke H, Assmann G (1995)
Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
Hum Mol Genet 4: 143

Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B, Gerdes U, Faergeman O, Albers JJ, Colleoni N, Catapano A, Frohlich J, Assmann G (1993)
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease
J Clinical Investigation 91: 677

Assmann G, von Eckardstein A, Funke H (1991)
Lecithin:cholesterol acyltransferase deficiency and fish eye disease.
Curr Opin Lipidol 2: 110

Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G (1991)
A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity
Proc Natl Acad Sci U S A 88: 4855

Paulweber B, Wiebusch H, Miesenboeck G, Funke H, Assmann G, Hoelzl B, Sippl MJ, Friedl W, Patsch JR, Sandhofer F (1991)
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia
Atherosclerosis 86: 239

Funke H, Reckwerth A, Stapenhorst D, Schulze Beiering M, Jansen M, Assmann G (1988)
Bst NI (Eco RII) RFLP in the lipoprotein lipase gene (LPL)
Nucleic Acids Research 16: 2741

Carlson LA, Holmquist L, Assmann G (1987)
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease
Acta Med Scand 222: 345

Funke H, Klug J, Assmann G (1987)
Hind III RFLP in the lipoprotein lipase gene, (LPL)
Nucleic Acids Research 15: 9102