A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

Por Ahonen, Saija J., Arumilli, Meharji, Lohi, Hannes
Publicado em 2013

webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering

Por Arumilli, Meharji, Layer, Ryan M., Hytönen, Marjo K., Lohi, Hannes
Publicado no Front Genet (2020)

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

Por Hytönen, Marjo K., Arumilli, Meharji, Sarkiala, Eva, Nieminen, Pekka, Lohi, Hannes
Publicado no Hum Genet (2019)

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

Por Niskanen, Julia, Dillard, Kati, Arumilli, Meharji, Salmela, Elina, Anttila, Marjukka, Lohi, Hannes, Hytönen, Marjo K.
Publicado no PLoS One (2017)

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

Por Hytönen, Marjo K., Arumilli, Meharji, Lappalainen, Anu K., Kallio, Heli, Snellman, Marjatta, Sainio, Kirsi, Lohi, Hannes
Publicado em 2012

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

Por Holopainen, Saila, Hytönen, Marjo K., Syrjä, Pernilla, Arumilli, Meharji, Järvinen, Anna-Kaisa, Rajamäki, Minna, Lohi, Hannes
Publicado no PLoS Genet (2017)

Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy

Por Ahonen, Saija J., Arumilli, Meharji, Seppälä, Eija, Hakosalo, Osmo, Kaukonen, Maria K., Komáromy, András M., Lohi, Hannes
Publicado no PLoS One (2014)

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Por Holden, Lindsay A., Arumilli, Meharji, Hytönen, Marjo K., Hundi, Sruthi, Salojärvi, Jarkko, Brown, Kim H., Lohi, Hannes
Publicado no Sci Rep (2018)

Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Por Holden, Lindsay A., Arumilli, Meharji, Hytönen, Marjo K., Hundi, Sruthi, Salojärvi, Jarkko, Brown, Kim H., Lohi, Hannes
Publicado no Sci Rep (2018)

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

Por Kyöstilä, Kaisa, Syrjä, Pernilla, Lappalainen, Anu K., Arumilli, Meharji, Hundi, Sruthi, Karkamo, Veera, Viitmaa, Ranno, Hytönen, Marjo K., Lohi, Hannes
Publicado no Sci Rep (2019)

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

Por Dillard, Kati J., Ochs, Matthias, Niskanen, Julia E., Arumilli, Meharji, Donner, Jonas, Kyöstilä, Kaisa, Hytönen, Marjo K., Anttila, Marjukka, Lohi, Hannes
Publicado no PLoS Genet (2020)

Novel protective and risk loci in hip dysplasia in German Shepherds

Por Mikkola, Lea I., Holopainen, Saila, Lappalainen, Anu K., Pessa-Morikawa, Tiina, Augustine, Thomas J. P., Arumilli, Meharji, Hytönen, Marjo K., Hakosalo, Osmo, Lohi, Hannes, Iivanainen, Antti
Publicado no PLoS Genet (2019)

Copy number variation analysis increases the diagnostic yield in muscle diseases

Por Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, Lopez de Munain, Adolfo, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter
Publicado no Neurol Genet (2017)

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

Por Koskinen, Lotta L. E., Seppälä, Eija H., Belanger, Janelle M., Arumilli, Meharji, Hakosalo, Osmo, Jokinen, Päivi, Nevalainen, Elisa M., Viitmaa, Ranno, Jokinen, Tarja S., Oberbauer, Anita M., Lohi, Hannes
Publicado no BMC Genomics (2015)

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

Por Kaukonen, Maria, Quintero, Ileana B., Mukarram, Abdul Kadir, Hytönen, Marjo K., Holopainen, Saila, Wickström, Kaisa, Kyöstilä, Kaisa, Arumilli, Meharji, Jalomäki, Sari, Daub, Carsten O., Kere, Juha, Lohi, Hannes
Publicado no PLoS Genet (2020)

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Por Hytönen, Marjo K., Arumilli, Meharji, Lappalainen, Anu K., Owczarek-Lipska, Marta, Jagannathan, Vidhya, Hundi, Sruthi, Salmela, Elina, Venta, Patrick, Sarkiala, Eva, Jokinen, Tarja, Gorgas, Daniela, Kere, Juha, Nieminen, Pekka, Drögemüller, Cord, Lohi, Hannes
Publicado no PLoS Genet (2016)

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Por Wielaender, Franziska, Sarviaho, Riika, James, Fiona, Hytönen, Marjo K., Cortez, Miguel A., Kluger, Gerhard, Koskinen, Lotta L. E., Arumilli, Meharji, Kornberg, Marion, Bathen-Noethen, Andrea, Tipold, Andrea, Rentmeister, Kai, Bhatti, Sofie F. M., Hülsmeyer, Velia, Boettcher, Irene C., Tästensen, Carina, Flegel, Thomas, Dietschi, Elisabeth, Leeb, Tosso, Matiasek, Kaspar, Fischer, Andrea, Lohi, Hannes
Publicado no Proc Natl Acad Sci U S A (2017)