 | Up a level |
Goncalves Pontes Jacinto, Joana; Letko, Anna; Häfliger, Irene Monika; Drögemüller, Cord; Agerholm, Jørgen Steen (2024). Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes. Acta Veterinaria Scandinavica, 66(29) BioMed Central Ltd. 10.1186/s13028-024-00752-y
Jacinto, J G P; Häfliger, I M; Letko, A; Weber, J; Freick, M; Gentile, A; Drögemüller, C; Agerholm, J S (2024). Multiple independent de novo mutations are associated with the development of schistosoma reflexum, a lethal syndrome in cattle. The veterinary journal, 304, p. 106069. Elsevier 10.1016/j.tvjl.2024.106069
Rudd Garces, Gabriela; Letko, Anna; Häfliger, Irene M; Müller, Jana; Herden, Christiane; Nesseler, Anne; Wagner, Henrik; Schmidt, Martin J; Drögemüller, Cord; Lühken, Gesine (2024). MFSD2A frameshift variant in Kerry Hill sheep with microcephaly. Animal genetics, 55(1), pp. 152-157. Wiley 10.1111/age.13374
Widmer, Sarah; Seefried, Franz R; Häfliger, Irene M; Signer-Hasler, Heidi; Flury, Christine; Drögemüller, Cord (2023). WNT10B: A locus increasing risk of brachygnathia inferior in Brown Swiss cattle. Journal of dairy science, 106(12), pp. 8969-8978. Elsevier 10.3168/jds.2023-23315
Jacinto, Joana G P; Bolcato, Marilena; Häfliger, Irene M; Oevermann, Anna; Gentile, Arcangelo; Drögemüller, Cord (2023). DYRK1B haploinsufficiency in a Holstein cattle with epilepsy. Animal genetics, 54(5), pp. 623-627. Wiley 10.1111/age.13348
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
Letko, Anna; Brülisauer, Franz; Häfliger, Irene M; Corr, Eilidh; Scholes, Sandra; Drögemüller, Cord (2023). Loss-of-function variant in the ovine TMCO6 gene in north country Cheviot sheep with motor neuron disease. Genomics, 115(5), p. 110689. Elsevier 10.1016/j.ygeno.2023.110689
Jacinto, Joana G P; Schiavon, Eliana; Häfliger, Irene M; Coin, Patrizio; Seefried, Franz R; Drögemüller, Cord (2023). MYH3-associated non-syndromic palatoschisis (cleft palate, CP) in Limousine cattle. Animal genetics, 54(4), pp. 581-582. Wiley 10.1111/age.13317
Widmer, Sarah; Seefried, Franz R; von Rohr, Peter; Häfliger, Irene M; Spengeler, Mirjam; Drögemüller, Cord (2022). Associated regions for multiple birth in Brown Swiss and Original Braunvieh cattle on chromosomes 15 and 11. Animal genetics, 53(5), pp. 557-569. Wiley 10.1111/age.13229
Jacinto, Joana G P; Häfliger, Irene M; Caivano, Domenico; Drögemüller, Cord (2022). A germline de novo variant in NUMB associated with a double-outlet right ventricle in Chianina cattle. Animal genetics, 53(5), pp. 713-714. Wiley 10.1111/age.13236
Jacinto, Joana G P; Muscatello, Luisa Vera; Häfliger, Irene M; Benazzi, Cinzia; Bolcato, Marilena; Gentile, Arcangelo; Drögemüller, Cord (2022). A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor. Animals, 12(18) MDPI 10.3390/ani12182329
Capuzzello, Giovanni; Jacinto, Joana Gonçalves Pontes; Häfliger, Irene Monika; Chapman, Gail E; Soto Martin, Sara; Viora, Lorenzo; Jonsson, Nicholas N; Drögemüller, Cord (2022). A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia. Acta Veterinaria Scandinavica, 64(1), p. 23. BioMed Central Ltd. 10.1186/s13028-022-00641-2
Jacinto, Joana G P; Häfliger, Irene M; Christen, Matthias; Paris, Julia M; Seefried, Franz R; Drögemüller, Cord (2022). Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf? Animal genetics, 53(4), pp. 530-531. Wiley 10.1111/age.13207
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
Jacinto, Joana G P; Häfliger, Irene M; Baes, Christine F; de Oliveira, Hinayah R; Drögemüller, Cord (2022). A de novo start-lost variant in ANKRD28 in a Holstein calf with dwarfism. Animal genetics, 53(3), pp. 470-471. 10.1111/age.13204
Häfliger, Irene M; Spengeler, Mirjam; Seefried, Franz R; Drögemüller, Cord (2022). Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle. Scientific reports, 12(1), p. 5435. Springer Nature 10.1038/s41598-022-09403-6
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 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
Paris, J. M.; Letko, A.; Häfliger, I. M.; Ammann, P.; Drögemüller, C. (2020). Ear type in sheep is associated with the MSRB3 locus. Animal genetics, 51(6), pp. 968-972. Wiley 10.1111/age.12994
Häfliger, Irene Monika; Agerholm, Jørgen Steen; Drögemüller, Cord (2020). Constitutional trisomy 20 in an aborted Holstein fetus with pulmonary hypoplasia and anasarca syndrome. Animal genetics, 51(6), pp. 988-989. Wiley 10.1111/age.13008
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 10.3390/genes11101147
Pontes Jacinto, Joana Goncalves; Häfliger, Irene Monika; Letko, Anna; Drögemüller, Cord; Agerholm, Jørgen Steen (2020). A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle. Acta Veterinaria Scandinavica, 62(1), p. 49. BioMed Central Ltd. 10.1186/s13028-020-00548-w
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
Simon, Rebecca; Lischer, H. E. L.; Pieńkowska-Schelling, A.; Keller, I.; Häfliger, I. M.; Letko, A.; Schelling, C; Lühken, G; Drögemüller, C. (2020). New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing. Animal genetics, 51(3), pp. 439-448. Wiley 10.1111/age.12918
Häfliger, I. M.; Hirter, N.; Paris, J. M.; Wolf Hofstetter, S.; Seefried, F R; Drögemüller, C. (2020). A de novo germline mutation of KIT in a white-spotted Brown Swiss cow. Animal genetics, 51(3), pp. 449-452. Wiley 10.1111/age.12920
Häfliger, I. M.; Wiedemar, N.; Švara, T; Starič, J; Cociancich, V; Šest, K; Gombač, M; Paller, T; Agerholm, J S; Drögemüller, C. (2020). Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome. Animal genetics, 51(3), pp. 382-390. Wiley 10.1111/age.12923
Häfliger, I. M.; Letko, A.; Murgiano, L.; Drögemüller, C. (2020). De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull. Animal genetics, 51(3), pp. 466-469. Wiley 10.1111/age.12934
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
Hirter, Nathalie; Letko, Anna; Häfliger, Irene Monika; Becker, Doreen; Greber, Deborah; Drögemüller, Cord (2020). A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep. Animal genetics, 51(2), pp. 278-283. Wiley 10.1111/age.12903
Paris, Julia Maria; Letko, Anna; Häfliger, Irene Monika; Švara, Tanja; Gombač, Mitja; Klinc, Primož; Škibin, Andrej; Pogorevc, Estera; Drögemüller, Cord (2020). A de novo variant in OTX2 in a lamb with otocephaly. Acta Veterinaria Scandinavica, 62(1) BioMed Central Ltd. 10.1186/s13028-020-0503-z
Mock, Thomas; Mee, John F.; Dettwiler, Martina; Rodriguez-Campos, Sabrina; Hüsler, Jürg; Michel, Brigitte; Häfliger, Irene Monika; Drögemüller, Cord; Bodmer, Michèle; Hirsbrunner, Gabriela (2020). Evaluation of an investigative model in dairy herds with high calf perinatal mortality rates in Switzerland. Theriogenology, 148, pp. 48-59. Elsevier 10.1016/j.theriogenology.2020.02.039
Häfliger, Irene Monika; Seefried, Franz; Drögemüller, Cord (2020). Trisomy 29 in a stillborn Swiss Original Braunvieh calf. Animal genetics, 51(3), pp. 483-484. Wiley 10.1111/age.12929
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
Paris, Julia Maria; Letko, Anna; Häfliger, Irene Monika; Ammann, P; Flury, C; Drögemüller, Cord (2019). Identification of two TYRP1 loss-of-function alleles in Valais Red sheep. Animal genetics, 50(6), pp. 778-782. Wiley 10.1111/age.12863
Woolley, S A; Eager, K L M; Häfliger, Irene Monika; Bauer, Anina; Drögemüller, Cord; Leeb, Tosso; O'Rourke, B A; Tammen, I (2019). An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis. Animal genetics, 50(6), pp. 749-752. Wiley 10.1111/age.12856
Häfliger, Irene Monika; Hofstetter, Sonja; Mock, Thomas; Stettler, Manuela Hanna; Meylan, Mireille; Mehinagic, Kemal; Stokar von Neuforn, Nadine; Drögemüller, Cord (2019). APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease. Animal genetics, 50(4), pp. 372-375. Wiley 10.1111/age.12801
Küttel, Luzia Marlis; Letko, Anna; Häfliger, Irene Monika; Signer-Hasler, Heidi; Joller, Sara; Hirsbrunner, Gabriela; Mészáros, G; Sölkner, J; Flury, C; Leeb, Tosso; Drögemüller, C. (2019). A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. Animal genetics, 50(5), pp. 423-429. Wiley 10.1111/age.12821
Häfliger, Irene Monika; Behn, Holger; Freick, Markus; Jagannathan, Vidhya; Drögemüller, Cord (2019). A COL2A1 de novo variant in a Holstein bulldog calf. Animal genetics, 50(1), pp. 113-114. Blackwell 10.1111/age.12735
Hofstetter, Sonja; Seefried, F; Häfliger, Irene Monika; Jagannathan, Vidya; Leeb, Tosso; Drögemüller, Cord (2019). A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle. Animal genetics, 50(1), pp. 27-32. Blackwell 10.1111/age.12751
Grahofer, Alexander; Letko, Anna; Häfliger, Irene Monika; Jagannathan, Vidya; Ducos, Alain; Richard, Olivia; Peter, Vanessa Georgina; Nathues, Heiko; Drögemüller, Cord (2019). Chromosomal imbalance in pigs showing a syndromic form of cleft palate. BMC Genomics, 20(1), p. 349. BioMed Central 10.1186/s12864-019-5711-4
Häfliger, I. M.; Seefried, F. R.; Drögemüller, C. (9 February 2023). Successful trio-based reverse genetic screen in an endangered local cattle breed. In: Veerkamp, R. F.; de Haas, Y. (eds.) Proceedings of 12th World Congress on Genetics Applied to Livestock Production (pp. 1074-1077). The Netherlands: Wageningen Academic Publishers 10.3920/978-90-8686-940-4_254
Mock, Thomas; Bodmer, Michèle; Hirsbrunner, Gabriela; Dettwiler, Martina Andrea; Rodriguez, Sabrina; Hüsler, Rudolf Jürg; Häfliger, Irene Monika; Drögemüller, Cord (September 2022). Evaluation of an investigative model in dairy herds with high calf perinatal mortality rates in Switzerland (Unpublished). In: 31st World Buiatrics Congress. Madrid. 04.09.2022-08.09.2022.
