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Jacinto, Jacinto, Joana G. P.; Wohlsein, Peter; Häfliger, Irene M.; Karl, Michael; Pohlers, Michael; Plobner, Lutz; Grünberg, Walter; Drögemüller, Cord (2023). A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle. Journal of veterinary internal medicine, 37(6), pp. 2631-2637. Wiley 10.1111/jvim.16865
Häfliger, Irene M.; Wolf-Hofstetter, Sonja; Casola, Christina; Hetzel, Udo; Seefried, Franz R.; Drögemüller, Cord (2022). A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract. Animal genetics, 53(3), pp. 416-421. Wiley 10.1111/age.13178
Häfliger, Irene M.; Koch, Caroline T.; Michel, Astrid; Rüfenacht, Silvia; Meylan, Mireille; Welle, Monika M.; Drögemüller, Cord (2022). DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects. BMC veterinary research, 18(1), p. 20. BioMed Central 10.1186/s12917-021-03113-3
Jacinto, Joana G P; Häfliger, Irene M.; Bernardini, Marco; Mandara, Maria Teresa; Bianchi, Ezio; Bolcato, Marilena; Romagnoli, Noemi; Gentile, Arcangelo; Drögemüller, Cord (2022). A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle. Journal of veterinary internal medicine, 36(1), pp. 292-299. Wiley-Blackwell 10.1111/jvim.16316
Häfliger, Irene M.; Seefried, Franz R.; Spengeler, Mirjam; Drögemüller, Cord (2021). Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success. Genetics, selection, evolution, 53(1), p. 95. BioMed Central 10.1186/s12711-021-00686-3
Häfliger, Irene M.; Seefried, Franz R.; Drögemüller, Cord (2021). Reverse Genetic Screen for Deleterious Recessive Variants in the Local Simmental Cattle Population of Switzerland. Animals, 11(12), p. 3535. MDPI 10.3390/ani11123535
Häfliger, Irene M.; Marchionatti, Emma; Stengard, Michele; Wolf-Hofstetter, Sonja; Paris, Julia M.; Jacinto, Joana G P; Watté, Christine; Voelter, Katrin; Occelli, Laurence M.; Komáromy, András M.; Oevermann, Anna; Goepfert, Christine; Borgo, Angelica; Roduit, Raphaël; Spengeler, Mirjam; Seefried, Franz R.; Drögemüller, Cord (2021). CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle. International journal of molecular sciences, 22(22), p. 12440. MDPI 10.3390/ijms222212440
Jacinto, Joana G P; Häfliger, Irene M.; Akyürek, Eylem Emek; Sacchetto, Roberta; Benazzi, Cinzia; Gentile, Arcangelo; Drögemüller, Cord (2021). KCNG1-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf. Genes, 12(11), p. 1792. MDPI, Molecular Diversity Preservation International 10.3390/genes12111792
Jacinto, Joana G P; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Gentile, Arcangelo; Drögemüller, Cord (2021). A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle. Molecular genetics and genomics : MGG, 296(6), pp. 1313-1322. Springer 10.1007/s00438-021-01824-8
Widmer, Sarah; Seefried, Franz R.; von Rohr, Peter; Häfliger, Irene M.; Spengeler, Mirjam; Drögemüller, Cord (2021). A major QTL at the LHCGR/FSHR locus for multiple birth in Holstein cattle. Genetics selection evolution, 53(1) BioMed Central 10.1186/s12711-021-00650-1
Butty, Adrien M; Chud, Tatiane C S; Cardoso, Diercles F; Lopes, Lucas S F; Miglior, Filippo; Schenkel, Flavio S; Cánovas, Angela; Häfliger, Irene M.; Drögemüller, Cord; Stothard, Paul; Malchiodi, Francesca; Baes, Christine F. (2021). Genome-wide association study between copy number variants and hoof health traits in Holstein dairy cattle. Journal of dairy science, 104(7), pp. 8050-8061. American Dairy Science Association 10.3168/jds.2020-19879
Jacinto, Joana G P; Häfliger, Irene M.; Gentile, Arcangelo; Drögemüller, Cord (2021). A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia. Animals, 11(7), p. 1931. MDPI 10.3390/ani11071931
Eager, Katie L.M.; Cauchi, Monique; Willet, Cali E.; Häfliger, Irene M.; Drögemüller, Cord; O’Rourke, Brendon A.; Tammen, Imke (2021). The previously reported LRP4 c.4940C>T variant is not associated with syndactyly in cattle. Animal genetics, 52(3), pp. 380-381. Wiley 10.1111/age.13061
Jacinto, Joana G P; Häfliger, Irene M.; Gentile, Arcangelo; Drögemüller, Cord; Bolcato, Marilena (2021). A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. Animal genetics, 52(2), pp. 244-245. Wiley 10.1111/age.13033
O’Toole, Donal; Häfliger, Irene M.; Leuthard, Fabienne; Schumaker, Brant; Steadman, Lynn; Murphy, Brian; Drögemüller, Cord; Leeb, Tosso (2021). X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA. Animals, 11(3), p. 657. MDPI 10.3390/ani11030657
Jacinto, Joana G P; Häfliger, Irene M.; McEvoy, Fintan J.; Drögemüller, Cord; Agerholm, Jørgen S. (2021). A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II. Animals, 11(2) MDPI 10.3390/ani11020561
Letko, Anna; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Waine, Katie; Drögemüller, Cord; Scholes, Sandra (2021). Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy. Molecular genetics and genomics : MGG, 296(1), pp. 235-242. Springer 10.1007/s00438-020-01742-1
Jacinto, Joana G P; Häfliger, Irene M.; Borel, Nicole; Zanolari, Patrik; Drögemüller, Cord; Veiga, Inês M. B. (2021). Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis. Animals, 11(3) MDPI 10.3390/ani11030624
Jacinto, Joana G P; Häfliger, Irene M.; Veiga, Inês M. B.; Drögemüller, Cord; Agerholm, Jørgen S. (2020). A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. Journal of veterinary internal medicine, 34(6), pp. 2800-2807. Wiley-Blackwell 10.1111/jvim.15943
Jacinto, Joana G P; Häfliger, Irene M.; Veiga, Inês M. B.; Letko, Anna; Benazzi, Cinzia; Bolcato, Marilena; Drögemüller, Cord (2020). A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome. Animals, 10(11), p. 2002. MDPI 10.3390/ani10112002
Letko, Anna; Dijkman, Reinie; Strugnell, Ben; Häfliger, Irene M.; Paris, Julia M.; Henderson, Katrina; Geraghty, Tim; Orr, Hannah; Scholes, Sandra; Drögemüller, Cord (2020). Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep. Genes, 11(10) MDPI, Molecular Diversity Preservation International 10.3390/genes11101147
Joller, Sara; Häfliger, Irene M.; Drögemüller, Cord; Richard, Olivia K.; Grahofer, Alexander (2020). Thrombocytopenic purpura on an organic farm with pen mating: a case report on the re-emergence of an old disease. Porcine health management, 6(1) BioMed Central 10.1186/s40813-020-00157-z
Brunner, Magdalena A. T.; Berenguer Veiga, Inês Margarida; Niggeler, Allegra; Häfliger, Irene M.; Stettler, Manuela; Meylan, Mireille; Welle, Monika; Drögemüller, Cord (2020). Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf? Veterinary dermatology, 31(3), 244-e54. Wiley 10.1111/vde.12827
Häfliger, Irene M.; Sickinger, Marlene; Holsteg, Mark; Raeder, Leif M.; Henrich, Manfred; Marquardt, Siegfried; Drögemüller, Cord; Lühken, Gesine (2020). An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency. BMC genetics, 21(1) BioMed Central 10.1186/s12863-020-00860-4
Butty, Adrien M.; Chud, Tatiane C. S.; Miglior, Filippo; Schenkel, Flavio S.; Kommadath, Arun; Krivushin, Kirill; Grant, Jason R.; Häfliger, Irene M.; Drögemüller, Cord; Cánovas, Angela; Stothard, Paul; Baes, Christine F. (2020). High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data. Scientific reports, 10(1), p. 8044. Springer Nature 10.1038/s41598-020-64680-3
