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Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder
Harris, Holly K., Sideridis, Georgios D., Barbaresi, William J., Harstad, Elizabeth
Published in Pediatrics (Evanston) (01.10.2020)
Published in Pediatrics (Evanston) (01.10.2020)
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Journal Article
Factors associated with progression to inflammatory arthritis in first-degree relatives of individuals with RA following autoantibody positive screening in a non-clinical setting
Bemis, Elizabeth A, Demoruelle, M Kristen, Seifert, Jennifer A, Polinski, Kristen J, Weisman, Michael H, Buckner, Jane H, Gregersen, Peter K, Mikuls, Ted R, ODell, James R, Keating, Richard M, Deane, Kevin D, Holers, V Michael, Norris, Jill M
Published in Annals of the rheumatic diseases (01.02.2021)
Published in Annals of the rheumatic diseases (01.02.2021)
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Journal Article
Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases
Voss, Laura A., Nevel, Rebekah J., Wambach, Jennifer A., Nogee, Lawrence M., Deterding, Robin R., Casey, Alicia M., O'Connor, Michael G., Craven, Daniel I., Taylor, Jane B., Deutsch, Gail H., Tam‐Williams, Jade B., Steffes, Lea C., Brennan, Steven K., Santiago, Maria T., Sadreameli, Sara C., Heras, Andrea F., Powers, Michael R., Popova, Antonia P., Bansal, Manvi, Hamvas, Aaron, Gower, William A., Urrego, Fernando, Young, Lisa R.
Published in Pediatric pulmonology (01.04.2025)
Published in Pediatric pulmonology (01.04.2025)
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Journal Article
The genetics of rod-cone dystrophy in Arab countries: a systematic review
Jaffal, Lama, Joumaa, Hawraa, Mrad, Zamzam, Zeitz, Christina, Audo, Isabelle, El Shamieh, Said
Published in European journal of human genetics : EJHG (01.06.2021)
Published in European journal of human genetics : EJHG (01.06.2021)
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Journal Article
Validation of the Red Flags Index for Early Diagnosis of Crohn’s Disease: A Prospective Observational IG-IBD Study Among General Practitioners
Fiorino, Gionata, Bonovas, Stefanos, Gilardi, Daniela, Di Sabatino, Antonio, Allocca, Mariangela, Furfaro, Federica, Roda, Giulia, Lenti, Marco V, Aronico, Nicola, Mengoli, Caterina, Angeli, Enzo, Gaffuri, Nicola, Peyrin-Biroulet, Laurent, Danese, Silvio
Published in Journal of Crohn's and colitis (02.12.2020)
Published in Journal of Crohn's and colitis (02.12.2020)
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Journal Article
Prevalence and Effect of Genetic Risk of Thromboembolic Disease in Inflammatory Bowel Disease
Naito, Takeo, Botwin, Gregory J., Haritunians, Talin, Li, Dalin, Yang, Shaohong, Khrom, Michelle, Braun, Jonathan, Cho, Judy, Silverberg, Mark, Duerr, Richard, Rioux, John, Brant, Steven, Schumm, Philip, Abbou, Lisa, Mengesha, Emebet, Stevens, Christine, Masamune, Atsushi, Daly, Mark, McGovern, Dermot P.B.
Published in Gastroenterology (01.02.2021)
Published in Gastroenterology (01.02.2021)
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Journal Article
Genomic diagnostics within a medically underserved population: efficacy and implications
Strauss, Kevin A., Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Williams, Katie B., King, Alejandra K., Van Hout, Cristopher, Robinson, Donna L., Young, Millie, Praveen, Kavita, Heaps, Adam D., Kuebler, Mindy, Baras, Aris, Reid, Jeffrey G., Overton, John D., Dewey, Frederick E., Jinks, Robert N., Finnegan, Ian, Mellis, Scott J., Shuldiner, Alan R., Puffenberger, Erik G.
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Journal Article
Two genetic analyses to elucidate causality between body mass index and personality
Arumäe, Kadri, Briley, Daniel, Colodro-Conde, Lucía, Mortensen, Erik Lykke, Jang, Kerry, Ando, Juko, Kandler, Christian, Sørensen, Thorkild I. A., Dagher, Alain, Mõttus, René, Vainik, Uku
Published in International Journal of Obesity (01.10.2021)
Published in International Journal of Obesity (01.10.2021)
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Journal Article
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Pode-Shakked, Ben, Barel, Ortal, Singer, Amihood, Regev, Miriam, Poran, Hana, Eliyahu, Aviva, Finezilber, Yael, Segev, Meirav, Berkenstadt, Michal, Yonath, Hagith, Reznik-Wolf, Haike, Gazit, Yael, Chorin, Odelia, Heimer, Gali, Gabis, Lidia V., Tzadok, Michal, Nissenkorn, Andreea, Bar-Yosef, Omer, Zohar-Dayan, Efrat, Ben-Zeev, Bruria, Mor, Nofar, Kol, Nitzan, Nayshool, Omri, Shimshoviz, Noam, Bar-Joseph, Ifat, Marek-Yagel, Dina, Javasky, Elisheva, Einy, Reviva, Gal, Moran, Grinshpun-Cohen, Julia, Shohat, Mordechai, Dominissini, Dan, Raas-Rothschild, Annick, Rechavi, Gideon, Pras, Elon, Greenbaum, Lior
Published in Scientific reports (27.09.2021)
Published in Scientific reports (27.09.2021)
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Journal Article
Prevalence of CFTR Pathogenic Variants in Pancreatitis: A Systematic Review and Meta-Analysis
Jiang, Joanna, Waidyaratne, Gavisha, Mussad, Shiab, Harris, Spencer, Roberts, Maegan E., Gokun, Yevgeniya, Freeman, A. Jay, Han, Samuel, Hart, Phil A., Lara, Luis F., Lee, Peter J., Krishna, Somashekar G., Papachristou, Georgios I., Stanich, Peter P., Ramsey, Mitchell L.
Published in Clinical and translational gastroenterology (01.07.2025)
Published in Clinical and translational gastroenterology (01.07.2025)
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Journal Article
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians
Kohli, Martin A., John-Williams, Krista, Rajbhandary, Ruchita, Naj, Adam, Whitehead, Patrice, Hamilton, Kara, Carney, Regina M., Wright, Clinton, Crocco, Elizabeth, Gwirtzman, Harry E., Lang, Rosalyn, Beecham, Gary, Martin, Eden R., Gilbert, John, Benatar, Michael, Small, Gary W., Mash, Deborah, Byrd, Goldie, Haines, Jonathan L., Pericak-Vance, Margaret A., Züchner, Stephan
Published in Neurobiology of aging (01.05.2013)
Published in Neurobiology of aging (01.05.2013)
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Journal Article
The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety
Sermijn, Erica, Delesie, Liesbeth, Deschepper, Ellen, Pauwels, Ingrid, Bonduelle, Maryse, Teugels, Erik, De Grève, Jacques
Published in Familial cancer (01.04.2016)
Published in Familial cancer (01.04.2016)
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Journal Article
Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China
Guomei, Cao, Luyan, Zhang, Lingling, Dai, Chunhong, Huang, Shan, Chen
Published in Computational and mathematical methods in medicine (10.01.2022)
Published in Computational and mathematical methods in medicine (10.01.2022)
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Journal Article
Simple prediction model for homologous recombination deficiency in breast cancers in adolescents and young adults
Watanabe, Tomoko, Honda, Takayuki, Totsuka, Hirohiko, Yoshida, Masayuki, Tanioka, Maki, Shiraishi, Kouya, Shimada, Yoko, Arai, Eri, Ushiama, Mineko, Tamura, Kenji, Yoshida, Teruhiko, Kanai, Yae, Kohno, Takashi
Published in Breast cancer research and treatment (01.07.2020)
Published in Breast cancer research and treatment (01.07.2020)
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Journal Article
A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
Evans, D G R, Eccles, D M, Rahman, N, Young, K, Bulman, M, Amir, E, Shenton, A, Howell, A, Lalloo, F
Published in Journal of medical genetics (01.06.2004)
Published in Journal of medical genetics (01.06.2004)
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Journal Article
Discovery by the Epistasis Project of an epistatic interaction between the GSTM3 gene and the HHEX/IDE/KIF11 locus in the risk of Alzheimer's disease
Bullock, James M., Medway, Christopher, Cortina-Borja, Mario, Turton, James C., Prince, Jonathan A., Ibrahim-Verbaas, Carla A., Schuur, Maaike, Breteler, Monique M., van Duijn, Cornelia M., Kehoe, Patrick G., Barber, Rachel, Coto, Eliecer, Alvarez, Victoria, Deloukas, Panos, Hammond, Naomi, Combarros, Onofre, Mateo, Ignacio, Warden, Donald R., Lehmann, Michael G., Belbin, Olivia, Brown, Kristelle, Wilcock, Gordon K., Heun, Reinhard, Kölsch, Heike, Smith, A. David, Lehmann, Donald J., Morgan, Kevin
Published in Neurobiology of aging (01.04.2013)
Published in Neurobiology of aging (01.04.2013)
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Journal Article