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

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

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

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

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

Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center

Authors: Juhlin, C.Christofer, Nilsson, Inga-Lena, Lagerstedt-Robinson, Kristina, Stenman, Adam, Bränström, Robert, Tham, Emma, Höög, Anders

Source: In Modern Pathology August 2019 32(8):1082-1094

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Authors: Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pedersen, Annie, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Wiafe, Samuel Agyei, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, Nordgren, Ann

Source: Nature Genetics; November 2024, Vol. 56 Issue: 11 p2287-2294, 8p

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.

Authors: Paucar, Martin, Nilsson, Daniel, Engvall, Martin, Laffita‐Mesa, José, Söderhäll, Cilla, Skorpil, Mikael, Halldin, Christer, Fazio, Patrik, Lagerstedt‐Robinson, Kristina, Solders, Göran, Angeria, Maria, Varrone, Andrea, Risling, Mårten, Jiao, Hong, Nennesmo, Inger, Wedell, Anna, Svenningsson, Per

Source: Journal of Internal Medicine; Sep2024, Vol. 296 Issue 3, p234-248, 15p

Subject Terms: SHORT tandem repeat analysis, MOTOR neurons, SPINAL cord, PURKINJE cells, WHOLE genome sequencing, SPINOCEREBELLAR ataxia

Universal testing in endometrial cancer in Sweden.

Authors: Andersson, Emil, Keränen, Anne, Lagerstedt-Robinson, Kristina, Ghazi, Sam, Lindblom, Annika, Tham, Emma, Mints, Miriam

Source: Hereditary Cancer in Clinical Practice; 8/22/2024, Vol. 22 Issue 1, p1-9, 9p

Subject Terms: DNA mismatch repair, DNA antibodies, ENDOMETRIAL cancer, MEDICAL screening, HEREDITARY nonpolyposis colorectal cancer, GENETIC mutation

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, Helgadottir, 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, Soller, Maria Johansson, Pettersson, Maria, Nordgren, Ann

Source: Pathology. 55(S1):S19-S20

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182559169.0x000001&indx=1&recIds=ETOCvdc_100182559169.0x000001

Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

Authors: Wallander, Karin, Liu, Wen, von Holst, Susanna, Thutkawkorapin, Jessada, Kontham, Vinaykumar, Forsberg, Anna, Lindblom, Annika, Lagerstedt‐Robinson, Kristina

Source: Genes, chromosomes & cancer. 58(11):775-782

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100094318065.0x000001&indx=1&recIds=ETOCvdc_100094318065.0x000001

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Authors: Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia, Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel

Source: Genome medicine. 11(1):1-23

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190670823.0x000001&indx=1&recIds=ETOCvdc_100190670823.0x000001