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P Jacinto, Joana G; 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, 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
Jacinto, Joana G. P.; Küchler, Leonore Bettina; Peters, Laureen M; Van der Vekens, Elke; Gurtner, Corinne; Seefried, Franz R; Meylan, Mireille; Drögemüller, Cord (2023). MOCOS-associated renal syndrome in a Brown Swiss cattle. Journal of veterinary internal medicine, 37(6), pp. 2603-2609. Wiley 10.1111/jvim.16856
Pontes Jacinto, Joana Goncalves; 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
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
Pontes Jacinto, Joana Goncalves; 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; Pontes Jacinto, Joana Gonçalves; 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, Joana; 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
Pontes Jacinto, Joana Goncalves; Sbarra, F; Quaglia, A; Gentile, A; Drögemüller, C (2022). Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle. Animal : an international journal of animal bioscience, 16(7), p. 100569. Elsevier 10.1016/j.animal.2022.100569
P Jacinto, Joana G; 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
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
Rodrigues, Ana Maria; Jacinto, Sofia; Henriques, Ana Rita; Valada, Maria Pedro; Tinazzi, Ilaria; de Sousa, Rute Dinis; Canhão, Helena (2022). Linguistic and cultural adaptation of the EARP Questionnaire to European Portuguese. ARP rheumatology, 1(4), pp. 271-277. Sociedade Portuguesa de Reumatologia
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
Jacinto, Joana G. P.; Markey, Alysta D.; Veiga, Inês M. B.; Paris, Julia M.; Welle, Monika; Beever, Jonathan E.; Drögemüller, Cord (2021). A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle. Genes, 12(7), p. 1038. MDPI, Molecular Diversity Preservation International 10.3390/genes12071038
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
Kuca, Thibaud; Marron, Brandy M; Pontes Jacinto, Joana Goncalves; Paris, Julia M.; Gerspach, Christian; Beever, Jonathan E; Drögemüller, Cord (2021). A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle. Genes, 12(5) MDPI, Molecular Diversity Preservation International 10.3390/genes12050643
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
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
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
Pontes Jacinto, Joana Goncalves; 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
Murgiano, Leonardo; Militerno, Gianfranco; Sbarra, Fiorella; Drögemüller, Cord; Jacinto, Joana G. P.; Gentile, Arcangelo; Bolcato, Marilena (2020). KDM2B‐associated paunch calf syndrome in Marchigiana cattle. Journal of veterinary internal medicine, 34(4), pp. 1657-1661. Wiley 10.1111/jvim.15789
