Human Genome Epidemiology Literature Finder
Records 1 - 20 (of 20 Records) |
Query Trace: PARN[original query] |
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Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nature genetics 2015 May 47 (5): 512-7. Stuart Bridget D, Choi Jungmin, Zaidi Samir, Xing Chao, Holohan Brody, Chen Rui, Choi Mihwa, Dharwadkar Pooja, Torres Fernando, Girod Carlos E, Weissler Jonathan, Fitzgerald John, Kershaw Corey, Klesney-Tait Julia, Mageto Yolanda, Shay Jerry W, Ji Weizhen, Bilguvar Kaya, Mane Shrikant, Lifton Richard P, Garcia Christine K |
Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive. The European respiratory journal 2016 Aug . Newton Chad A, Batra Kiran, Torrealba Jose, Kozlitina Julia, Glazer Craig S, Aravena Carlos, Meyer Keith, Raghu Ganesh, Collard Harold R, Garcia Christine K |
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nature genetics 2016 Aug 48 (8): 856-66. Gormley Padhraig, Anttila Verneri, Winsvold Bendik S, Palta Priit, Esko Tonu, Pers Tune H, Farh Kai-How, Cuenca-Leon Ester, Muona Mikko, Furlotte Nicholas A, Kurth Tobias, Ingason Andres, McMahon George, Ligthart Lannie, Terwindt Gisela M, Kallela Mikko, Freilinger Tobias M, Ran Caroline, Gordon Scott G, Stam Anine H, Steinberg Stacy, Borck Guntram, Koiranen Markku, Quaye Lydia, Adams Hieab H H, Lehtimäki Terho, Sarin Antti-Pekka, Wedenoja Juho, Hinds David A, Buring Julie E, Schürks Markus, Ridker Paul M, Hrafnsdottir Maria Gudlaug, Stefansson Hreinn, Ring Susan M, Hottenga Jouke-Jan, Penninx Brenda W J H, Färkkilä Markus, Artto Ville, Kaunisto Mari, Vepsäläinen Salli, Malik Rainer, Heath Andrew C, Madden Pamela A F, Martin Nicholas G, Montgomery Grant W, Kurki Mitja I, Kals Mart, Mägi Reedik, Pärn Kalle, Hämäläinen Eija, Huang Hailiang, Byrnes Andrea E, Franke Lude, Huang Jie, Stergiakouli Evie, Lee Phil H, Sandor Cynthia, Webber Caleb, Cader Zameel, Muller-Myhsok Bertram, Schreiber Stefan, Meitinger Thomas, Eriksson Johan G, Salomaa Veikko, Heikkilä Kauko, Loehrer Elizabeth, Uitterlinden Andre G, Hofman Albert, van Duijn Cornelia M, Cherkas Lynn, Pedersen Linda M, Stubhaug Audun, Nielsen Christopher S, Männikkö Minna, Mihailov Evelin, Milani Lili, Göbel Hartmut, Esserlind Ann-Louise, Christensen Anne Francke, Hansen Thomas Folkmann, Werge Thomas, , Kaprio Jaakko, Aromaa Arpo J, Raitakari Olli, Ikram M Arfan, Spector Tim, Järvelin Marjo-Riitta, Metspalu Andres, Kubisch Christian, Strachan David P, Ferrari Michel D, Belin Andrea C, Dichgans Martin, Wessman Maija, van den Maagdenberg Arn M J M, Zwart John-Anker, Boomsma Dorret I, Smith George Davey, Stefansson Kari, Eriksson Nicholas, Daly Mark J, Neale Benjamin M, Olesen Jes, Chasman Daniel I, Nyholt Dale R, Palotie Aar |
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.
Proceedings of the National Academy of Sciences of the United States of America 2017 01 114 (3): E327-E336. Guo Michael H, Nandakumar Satish K, Ulirsch Jacob C, Zekavat Seyedeh M, Buenrostro Jason D, Natarajan Pradeep, Salem Rany M, Chiarle Roberto, Mitt Mario, Kals Mart, Pärn Kalle, Fischer Krista, Milani Lili, Mägi Reedik, Palta Priit, Gabriel Stacey B, Metspalu Andres, Lander Eric S, Kathiresan Sekar, Hirschhorn Joel N, Esko Tõnu, Sankaran Vijay |
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. The European respiratory journal 2017 May 49 (5): . Juge Pierre-Antoine, Borie Raphaël, Kannengiesser Caroline, Gazal Steven, Revy Patrick, Wemeau-Stervinou Lidwine, Debray Marie-Pierre, Ottaviani Sébastien, Marchand-Adam Sylvain, Nathan Nadia, Thabut Gabriel, Richez Christophe, Nunes Hilario, Callebaut Isabelle, Justet Aurélien, Leulliot Nicolas, Bonnefond Amélie, Salgado David, Richette Pascal, Desvignes Jean-Pierre, Lioté Huguette, Froguel Philippe, Allanore Yannick, Sand Olivier, Dromer Claire, Flipo René-Marc, Clément Annick, Béroud Christophe, Sibilia Jean, Coustet Baptiste, Cottin Vincent, Boissier Marie-Christophe, Wallaert Benoit, Schaeverbeke Thierry, Dastot le Moal Florence, Frazier Aline, Ménard Christelle, Soubrier Martin, Saidenberg Nathalie, Valeyre Dominique, Amselem Serge, , Boileau Catherine, Crestani Bruno, Dieudé Philip |
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. American journal of respiratory and critical care medicine 2017 07 196 (1): 82-93. Petrovski Slavé, Todd Jamie L, Durheim Michael T, Wang Quanli, Chien Jason W, Kelly Fran L, Frankel Courtney, Mebane Caroline M, Ren Zhong, Bridgers Joshua, Urban Thomas J, Malone Colin D, Finlen Copeland Ashley, Brinkley Christie, Allen Andrew S, O'Riordan Thomas, McHutchison John G, Palmer Scott M, Goldstein David |
Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study. The Lancet. Respiratory medicine 2018 Jun . Dressen Amy, Abbas Alexander R, Cabanski Christopher, Reeder Janina, Ramalingam Thirumalai R, Neighbors Margaret, Bhangale Tushar R, Brauer Matthew J, Hunkapiller Julie, Reeder Jens, Mukhyala Kiran, Cuenco Karen, Tom Jennifer, Cowgill Amy, Vogel Jan, Forrest William F, Collard Harold R, Wolters Paul J, Kropski Jonathan A, Lancaster Lisa H, Blackwell Timothy S, Arron Joseph R, Yaspan Brian |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison. Respiratory research 2019 8 20 (1): 182. Papiris Spyros A, Tsirigotis Panagiotis, Kannengiesser Caroline, Kolilekas Lykourgos, Gkirkas Konstantinos, Papaioannou Andriana I, Revy Patrick, Giouleka Paschalina, Papadaki Georgia, Kagouridis Konstantinos, Pappa Vassiliki, Borie Raphael, Boileau Catherine, Bouros Demosthenes, Crestani Bruno, Manali Effrosyni |
Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis. American journal of respiratory and critical care medicine 2019 Jul . Ley Brett, Torgerson Dara G, Oldham Justin M, Adegunsoye Ayodeji, Liu Shuo, Li Jie, Elicker Brett M, Henry Travis S, Golden Jeffrey A, Jones Kirk D, Dressen Amy, Yaspan Brian L, Arron Joseph R, Noth Imre, Hoffmann Thomas J, Wolters Paul |
Lung Transplant Outcomes in Patients With Pulmonary Fibrosis With Telomere-Related Gene Variants. Chest 2019 4 156 (3): 477-485. Swaminathan Aparna C, Neely Megan L, Frankel Courtney W, Kelly Fran L, Petrovski Slavé, Durheim Michael T, Bush Erika, Snyder Laurie, Goldstein David B, Todd Jamie L, Palmer Scott |
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. NPJ genomic medicine 2019 4 30. Lauhasurayotin Supanun, Cuvelier Geoff D, Klaassen Robert J, Fernandez Conrad V, Pastore Yves D, Abish Sharon, Rayar Meera, Steele MacGregor, Jardine Lawrence, Breakey Vicky R, Brossard Josee, Sinha Roona, Silva Mariana, Goodyear Lisa, Lipton Jeffrey H, Michon Bruno, Corriveau-Bourque Catherine, Sung Lillian, Shabanova Iren, Li Hongbing, Zlateska Bozana, Dhanraj Santhosh, Cada Michaela, Scherer Stephen W, Dror Yig |
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants. European journal of human genetics : EJHG 2020 Nov . Leitsalu Liis, Palover Marili, Sikka Timo Tõnis, Reigo Anu, Kals Mart, Pärn Kalle, Nikopensius Tiit, Esko Tõnu, Metspalu Andres, Padrik Peeter, Tõnisson Nee |
Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review. BMC pulmonary medicine 2021 9 21 (1): 279. Wang Ping, Xu Zuoj |
Primary age-related tauopathy in a Finnish population-based study of the oldest old (Vantaa 85+). Neuropathology and applied neurobiology 2021 12 48 (3): e12788. Savola Sara, Kaivola Karri, Raunio Anna, Kero Mia, Mäkelä Mira, Pärn Kalle, Palta Priit, Tanskanen Maarit, Tuimala Jarno, Polvikoski Tuomo, Tienari Pentti J, Paetau Anders, Myllykangas Lii |
[Telomeres and lung]. Revue des maladies respiratoires 2022 6 39 (7): 595-606. Guérin C, Crestani B, Dupin C, Kawano-Dourado L, Ba I, Kannengiesser C, Borie |
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Cell genomics 2022 Jan 2 (1): . Taub Margaret A, Conomos Matthew P, Keener Rebecca, Iyer Kruthika R, Weinstock Joshua S, Yanek Lisa R, Lane John, Miller-Fleming Tyne W, Brody Jennifer A, Raffield Laura M, McHugh Caitlin P, Jain Deepti, Gogarten Stephanie M, Laurie Cecelia A, Keramati Ali, Arvanitis Marios, Smith Albert V, Heavner Benjamin, Barwick Lucas, Becker Lewis C, Bis Joshua C, Blangero John, Bleecker Eugene R, Burchard Esteban G, Celedón Juan C, Chang Yen Pei C, Custer Brian, Darbar Dawood, de Las Fuentes Lisa, DeMeo Dawn L, Freedman Barry I, Garrett Melanie E, Gladwin Mark T, Heckbert Susan R, Hidalgo Bertha A, Irvin Marguerite R, Islam Talat, Johnson W Craig, Kaab Stefan, Launer Lenore, Lee Jiwon, Liu Simin, Moscati Arden, North Kari E, Peyser Patricia A, Rafaels Nicholas, Seidman Christine, Weeks Daniel E, Wen Fayun, Wheeler Marsha M, Williams L Keoki, Yang Ivana V, Zhao Wei, Aslibekyan Stella, Auer Paul L, Bowden Donald W, Cade Brian E, Chen Zhanghua, Cho Michael H, Cupples L Adrienne, Curran Joanne E, Daya Michelle, Deka Ranjan, Eng Celeste, Fingerlin Tasha E, Guo Xiuqing, Hou Lifang, Hwang Shih-Jen, Johnsen Jill M, Kenny Eimear E, Levin Albert M, Liu Chunyu, Minster Ryan L, Naseri Take, Nouraie Mehdi, Reupena Muagututi'a Sefuiva, Sabino Ester C, Smith Jennifer A, Smith Nicholas L, Su Jessica Lasky, Taylor James G, Telen Marilyn J, Tiwari Hemant K, Tracy Russell P, White Marquitta J, Zhang Yingze, Wiggins Kerri L, Weiss Scott T, Vasan Ramachandran S, Taylor Kent D, Sinner Moritz F, Silverman Edwin K, Shoemaker M Benjamin, Sheu Wayne H-H, Sciurba Frank, Schwartz David A, Rotter Jerome I, Roden Daniel, Redline Susan, Raby Benjamin A, Psaty Bruce M, Peralta Juan M, Palmer Nicholette D, Nekhai Sergei, Montgomery Courtney G, Mitchell Braxton D, Meyers Deborah A, McGarvey Stephen T, , Mak Angel Cy, Loos Ruth Jf, Kumar Rajesh, Kooperberg Charles, Konkle Barbara A, Kelly Shannon, Kardia Sharon Lr, Kaplan Robert, He Jiang, Gui Hongsheng, Gilliland Frank D, Gelb Bruce D, Fornage Myriam, Ellinor Patrick T, de Andrade Mariza, Correa Adolfo, Chen Yii-Der Ida, Boerwinkle Eric, Barnes Kathleen C, Ashley-Koch Allison E, Arnett Donna K, , , , Laurie Cathy C, Abecasis Goncalo, Nickerson Deborah A, Wilson James G, Rich Stephen S, Levy Daniel, Ruczinski Ingo, Aviv Abraham, Blackwell Thomas W, Thornton Timothy, O'Connell Jeff, Cox Nancy J, Perry James A, Armanios Mary, Battle Alexis, Pankratz Nathan, Reiner Alexander P, Mathias Rasika |
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis. American journal of respiratory and critical care medicine 2022 4 206 (1): 56-69. Zhang David, Povysil Gundula, Kobeissy Philippe H, Li Qi, Wang Binhan, Amelotte Mason, Jaouadi Hager, Newton Chad A, Maher Toby M, Molyneaux Philip L, Noth Imre, Martinez Fernando J, Raghu Ganesh, Todd Jamie L, Palmer Scott M, Haefliger Carolina, Platt Adam, Petrovski Slavé, Garcia Joseph A, Goldstein David B, Garcia Christine K |
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study. Respiration; international review of thoracic diseases 2022 1 101 (6): 531-543. Manali Effrosyni D, Kannengiesser Caroline, Borie Raphael, Ba Ibrahima, Bouros Demosthenes, Markopoulou Aikaterini, Antoniou Katerina, Kolilekas Lykourgos, Papaioannou Andriana I, Tzilas Vasileios, Tzouvelekis Argyrios, Daniil Zoe, Fouka Evangelia, Papakosta Despoina, Xyfteri Areti, Karakatsani Anna, Loukides Stylianos, Korbila Ioanna, Tomos Ioannis P, Konstantinidis Athanasios K, Gogali Athina, Steiropoulos Paschalis, Papanikolaou Ilias C, Bazaka Chrysa, Haritou Aggeliki, Vassilakopoulos Theodoros, Maniati Maria, Kagouridis Konstantinos, Markozannes Evangelos, Bouros Evangelos, Rampiadou Christina, Kounti Georgia, Trachalaki Athina, Dimeas Ilias, Karampitsakos Theodoros, Lyberopoulos Panagiotis, Malamadakis Nikolaos, Spyropoulou Sofia, Revy Patrick, Lainey Elodie, Dieudé Philippe, Rebah Khedidja, Ménard Christelle, Oudin Claire, Masson Cécile, Plessier Aurélie, Legendre Marie, Nathan Nadia, Coulomb-L'Hermine Aurore, Clement Annick, Amselem Serge, Boileau Catherine, Crestani Bruno, Papiris Spyros, |
A novel nonsense mutation of PNLDC1 associated with male infertility due to oligo-astheno-teratozoospermia in a consanguineous Chinese family. QJM : monthly journal of the Association of Physicians 2023 7 . Qi Fang, Xinying Bi, Han Wei, Song Liu, Jianyong Di, Ye Liu, Fengqin Xu, Binbin Wa |
FinnGen provides genetic insights from a well-phenotyped isolated population. Nature 2023 1 613 (7944): 508-518. 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 Aar |
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- Page last updated:Apr 22, 2024
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