An integrative network-based approach for drug target indication expansion

por Han, Yingnan, Wang, Clarence, Klinger, Katherine, Rajpal, Deepak K., Zhu, Cheng
Publicado 2021

Empowering the discovery of novel target-disease associations via machine learning approaches in the open targets platform

por Han, Yingnan, Klinger, Katherine, Rajpal, Deepak K., Zhu, Cheng, Teeple, Erin
Publicado 2022

Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository

por Lessard, Samuel, He, Chunla, Rajpal, Deepak K., Klinger, Katherine, Loh, Christine, Harris, Tim, Dumont, Jennifer
Publicado 2022

Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease

por Kleytman, Nathaniel, Ruan, Jiapeng, Ruan, Audrey, Zhang, Bailin, Murugesan, Vagishwari, Lin, Haiqun, Guo, Lilu, Klinger, Katherine, Mistry, Pramod K.
Publicado 2021

Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center

por Basiri, Mohsen, Ghaffari, Mohammad E, Ruan, Jiapeng, Murugesan, Vagishwari, Kleytman, Nathaniel, Belinsky, Glenn, Akhavan, Amir, Lischuk, Andrew, Guo, Lilu, Klinger, Katherine, Mistry, Pramod K
Publicado 2023

Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease

por Natoli, Thomas A., Husson, Hervé, Rogers, Kelly A., Smith, Laurie A., Wang, Bing, Budman, Yeva, Bukanov, Nikolay O., Ledbetter, Steven R., Klinger, Katherine W., Leonard, John P., Ibraghimov-Beskrovnaya, Oxana
Publicado 2012

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

por Glascock, Jacqueline, Sampson, Jacinda, Haidet-Phillips, Amanda, Connolly, Anne, Darras, Basil, Day, John, Finkel, Richard, Howell, R. Rodney, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill
Publicado 2018

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

por Glascock, Jacqueline, Sampson, Jacinda, Connolly, Anne M., Darras, Basil T., Day, John W., Finkel, Richard, Howell, R. Rodney, Klinger, Katherine W., Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill
Publicado 2020

Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy

por Boddupalli, Chandra Sekhar, Nair, Shiny, Belinsky, Glenn, Gans, Joseph, Teeple, Erin, Nguyen, Tri-Hung, Mehta, Sameet, Guo, Lilu, Kramer, Martin L, Ruan, Jiapeng, Wang, Honggge, Davison, Matthew, Kumar, Dinesh, Vidyadhara, DJ, Zhang, Bailin, Klinger, Katherine, Mistry, Pramod K
Publicado 2022

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

por Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Publicado 2004

Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice

por Husson, Hervé, Bukanov, Nikolay O, Moreno, Sarah, Smith, Mandy M, Richards, Brenda, Zhu, Cheng, Picariello, Tyler, Park, Hyejung, Wang, Bing, Natoli, Thomas A, Smith, Laurie A, Zanotti, Stefano, Russo, Ryan J, Madden, Stephen L, Klinger, Katherine W, Modur, Vijay, Ibraghimov-Beskrovnaya, Oxana
Publicado 2020

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

por Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., Palotie, Aarno
Publicado 2023

FinnGen provides genetic insights from a well-phenotyped isolated population

por Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., Palotie, Aarno
Publicado 2023