Per Capita

Authors: Robinson, Kristina Kay

Source: The Massachusetts Review. 60(4):709-717

Availability: https://muse.jhu.edu/article/744714

Novel findings in a Swedish primary familial brain calcification cohort

Authors: Sennfält, Stefan, Gustavsson, Peter, Malmgren, Helena, Gilland, Eric, Almqvist, Håkan, Oscarson, Mikael, Engvall, Martin, Björkhem, Ingemar, Nilsson, Daniel, Lagerstedt-Robinson, Kristina, Svenningsson, Per, Paucar, Martin

Source: In Journal of the Neurological Sciences 15 May 2024 460

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study

Authors: Tesi, Bianca, Robinson, Kristina Lagerstedt, Abel, Frida, Díaz de Ståhl, Teresita, Orrsjö, Sara, Poluha, Anna, Hellberg, Maria, Wessman, Sandra, Samuelsson, Sofie, Frisk, Tony, Vogt, Hartmut, Henning, Karin, Sabel, Magnus, Ek, Torben, Pal, Niklas, Nyman, Per, Giraud, Geraldine, Wille, Joakim, Pronk, Cornelis Jan, Norén-Nyström, Ulrika, Borssén, Magnus, Fili, Maria, Stålhammar, Gustav, Herold, Nikolas, Tettamanti, Giorgio, Maya-Gonzalez, Carolina, Arvidsson, Linda, Rosén, Anna, Ekholm, Katja, Kuchinskaya, Ekaterina, Hallbeck, Anna-Lotta, Nordling, Margareta, Palmebäck, Pia, Kogner, Per, Smoler, Gunilla Kanter, Lähteenmäki, Päivi, Fransson, Susanne, Martinsson, Tommy, Shamik, Alia, Mertens, Fredrik, Rosenquist, Richard, Wirta, Valtteri, Tham, Emma, Grillner, Pernilla, Sandgren, Johanna, Ljungman, Gustaf, Gisselsson, David, Taylan, Fulya, Nordgren, Ann

Source: In The Lancet Regional Health - Europe April 2024 39

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

Authors: Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla

Source: Lancet oncology. 24(1):91-106

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180186452.0x000001&indx=1&recIds=ETOCvdc_100180186452.0x000001

Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk

Authors: Bryant, Patrick, Walton Bernstedt, Sophie, Thutkawkorapin, Jessada, Backman, Ann-Sofie, Lindblom, Annika, Lagerstedt-Robinson, Kristina

Source: European journal of cancer prevention. 32(2):113-118

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178224436.0x000001&indx=1&recIds=ETOCvdc_100178224436.0x000001

Tissue specific trisomy 15 mosaicism associated with urogenital malformations

Authors: Nordenskjöld, Agneta, Lagerstedt-Robinson, Kristina, Anderlid, Britt-Marie, Lundin, Johanna

Source: In European Journal of Medical Genetics October 2023 66(10)

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Authors: Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Björck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Helgadóttir, Hafdís T., Hellström-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindelöf, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Johansson Soller, Maria, Pettersson, Maria, Nordgren, Ann

Source: In Genetics in Medicine November 2022 24(11):2296-2307

Rebellious Architecture: Bayou Reconstructed

Authors: McEwen, V Mitch, Robinson, Kristina Kay

Source: Architectural design. 92(2):104-113

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100143376920.0x000001&indx=1&recIds=ETOCvdc_100143376920.0x000001

The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD

Authors: Lieberman, Kenneth V., Chang, Alexander R., Block, Geoffrey A., Robinson, Kristina, Bristow, Sara L., Morales, Ana, Mitchell, Asia, McCalley, Stephen, McKay, Jim, Pollak, Martin R., Aradhya, Swaroop, Warady, Bradley A.

Source: Kidney360. 3(5):900-909

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188585748.0x000001&indx=1&recIds=ETOCvdc_100188585748.0x000001

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Authors: Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt‐Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik

Source: Human mutation. 43(6):708-716

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100151083832.0x000001&indx=1&recIds=ETOCvdc_100151083832.0x000001

Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort

Authors: Svensson, Sara, Zagoras, Theofanis, Aravidis, Christos, Askmalm, Marie Stenmark, Björck, Erik, Borg, Åke, Kuchinskaya, Ekaterina, Nilbert, Mef, Nordling, Margareta, Rohlin, Anna, Silander, Gustav, Lagerstedt‐Robinson, Kristina, Gebre‐Medhin, Samuel

Source: Genes, chromosomes & cancer. 61(10):585-591

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157790923.0x000001&indx=1&recIds=ETOCvdc_100157790923.0x000001

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

Authors: Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika

Source: Ear and hearing. 43(1):53-69

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100156970265.0x000001&indx=1&recIds=ETOCvdc_100156970265.0x000001

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Authors: Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, Jenkins, Mark A. ^*

Source: In The Lancet Oncology July 2021 22(7):1014-1022

Aging with CF: Characteristics of people with CF aged 40 and older in the United States.

Authors: Ostrenga, Joshua S.¹ (AUTHOR) jostrenga@cff.org, Robinson, Kristina² (AUTHOR), Brown, A. Whitney¹ (AUTHOR), Goss, Christopher H.³ (AUTHOR), Cromwell, Elizabeth A.¹ (AUTHOR)

Source: Journal of Cystic Fibrosis. Jan2025, Vol. 24 Issue 1, p183-186. 4p.

Subject Terms: *RACE, *SEX (Biology), *BODY mass index, *DELAYED diagnosis, *CYSTIC fibrosis

ASSEMBLAGE AND INHERITANCE

Authors: Robinson, Kristina Kay

Source: Art in America. 109(6):82-89

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627764193&indx=1&recIds=ETOCRN627764193

Identification of known and novel familial cancer genes in Swedish colorectal cancer families

Authors: Helgadottir, Hafdis T., Thutkawkorapin, Jessada, Rohlin, Anna, Nordling, Margareta, Lagerstedt‐Robinson, Kristina, Lindblom, Annika

Source: International journal of cancer. 149(3):627-634

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122745630.0x000001&indx=1&recIds=ETOCvdc_100122745630.0x000001

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.

Authors: Maya-González, Carolina, Díaz De Ståhl, Teresita, Wessman, Sandra, Taylan, Fulya, Tesi, Bianca, Lagerstedt-Robinson, Kristina, Tettamanti, Giorgio, Dukic, Milena, Poluha, Anna, Ljungman, Gustaf, Nordgren, Ann

Source: American Journal of Case Reports; 12/29/2024, Vol. 25, p1-9, 9p

Subject Terms: LIMB-girdle muscular dystrophy, PATHOLOGY, SARCOMA, WHOLE genome sequencing, MUSCULAR dystrophy

Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.

Authors: Maya‐González, Carolina¹, carolina.maya.gonzalez@ki.se, Delgado‐Vega, Angelica Maria^1,2, Taylan, Fulya^1,2, Lagerstedt Robinson, Kristina^1,2, Hansson, Lina³, Pal, Niklas⁴, Fagman, Henrik^5,6, Puls, Florian⁶, Wessman, Sandra^7,8, Stenman, Jakob⁹, Georgantzi, Kleopatra¹⁰, Fransson, Susanne^5,11, Díaz De Ståhl, Teresita^7,8, Ek, Torben¹², Palmer, Ruth¹³, Tesi, Bianca^1,2,14, Kogner, Per¹⁰, Martinsson, Tommy^5,11, Nordgren, Ann^1,2,5,11, ann.nordgren@ki.se

Source: American Journal of Medical Genetics. Part A; Dec2024, Vol. 194 Issue 12, p1-8, 8p

STARS OVER MISSISSIPPI

Authors: Robinson, Kristina Kay

Source: Obsidian, 2020 Jan 01. 46(2), 40-55.

Access URL: https://www.jstor.org/stable/27191517

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders

Authors: Paucar, Martin, Laffita-Mesa, José, Niemelä, Valter, Malmgren, Helena, Nennesmo, Inger, Lagerstedt-Robinson, Kristina, Nordenskjöld, Magnus, Svenningsson, Per

Source: Journal of the neurological sciences. 451

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194881163.0x000001&indx=1&recIds=ETOCvdc_100194881163.0x000001