المؤلفون: Chopra, Maya, Savatt, Juliann, Bingaman, Taylor, Good, Molly, Morgan, Alexis, Cooney, Caitlin, Rossel, Allison, VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina, Piven, Joseph, Hazlett, Heather, Pomeroy, Scott, Sahin, Mustafa, Payne, Philip, Riggs, Erin, Constantino, John

المصدر: Genetics in Medicine. 26(3)

مصطلحات موضوعية: Autism, Gene curation, Intellectual disability, Neurodevelopmental disorders, Variant of uncertain significance, Humans, Genetic Variation, Databases, Genetic, Genetic Testing, Phenotype, Brain

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8k68d1b9

المؤلفون: Gropman, A., Smith-Hicks, C.L., Neul, J., Agosto, J.A. Martinez, German, K., Izumi, K., Abbeduto, L., Dawalt, L., Wangler, M., Wasserstein, M., Storch, Eric A., Cohen, J.S., Samaco, R., Molholm, S., Shankar, S., Srivastava, S., Walkley, S., Sveden, A., Dies, K., Gupta, Aditi, Oh, Inez, Hauck, Rachel, Chopra, Maya, Savatt, Juliann M., Bingaman, Taylor I., Good, Molly E., Morgan, Alexis, Cooney, Caitlin, Rossel, Allison M., VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina A., Piven, Joseph, Hazlett, Heather, Pomeroy, Scott L., Sahin, Mustafa, Payne, Philip R.O., Riggs, Erin Rooney, Constantino, John N.

المصدر: In Genetics in Medicine March 2024 26(3)

المؤلفون: Schwiter, Rachel, Rocha, Heather, Johns, Alicia, Savatt, Juliann M., Diehl, David L., Kelly, Melissa A., Williams, Marc S., Buchanan, Adam H.

المصدر: In Genetics in Medicine December 2023 25(12)

المؤلفون: Baldridge, Dustin^{Aff1, IDs11689024095303_cor1}, Kaster, Levi, Sancimino, Catherine, Srivastava, Siddharth^{Aff4, Aff5}, Molholm, Sophie, Gupta, Aditi, Oh, Inez, Lanzotti, Virginia, Grewal, Daleep, Riggs, Erin Rooney, Savatt, Juliann M., Hauck, Rachel, Sveden, Abigail, Constantino, John N., Piven, Joseph, Gurnett, Christina A., Chopra, Maya^{Aff4, Aff5}, Hazlett, Heather, Payne, Philip R. O.

المصدر: Journal of Neurodevelopmental Disorders. 16(1)

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المؤلفون: Savatt, Juliann M.^{Aff1, IDs12916022023754_cor1}, Ortiz, Nicole M., Thone, Gretchen M., McDonald, Whitney S., Kelly, Melissa A., Berry, Alexander S. F., Alvi, Madiha M.^{Aff3, Aff4}, Hallquist, Miranda L. G., Malinowski, Jennifer, Purdy, Nicholas C.^{Aff4, Aff5}, Williams, Marc S.^{Aff1, Aff4}, Sturm, Amy C.^{Aff1, Aff4, Aff6}, Buchanan, Adam H.^{Aff1, Aff4}

المصدر: BMC Medicine. 20(1)

المؤلفون: Savatt, Juliann M.^{Aff1, Aff2}, Azzariti, Danielle R., Ledbetter, David H.^{Aff1, Aff2}, Palen, Emily, Rehm, Heidi L.^{Aff3, Aff4, Aff5}, Riggs, Erin Rooney, Martin, Christa Lese^{Aff1, Aff2}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1738-1745

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المؤلفون: Rodríguez-Palmero, Agustí^{Aff1, Aff2}, Boerrigter, Melissa Maria^{Aff3, Aff4}, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo^{Aff7, Aff8}, Popp, Bernt^{Aff9, Aff10}, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid^{Aff11, Aff14}, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin^{Aff19, Aff20}, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J.^{Aff23, Aff24}, Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand^{Aff19, Aff20}, Soller, Maria Johansson^{Aff35, Aff36}, Kushary, Sulagna, Kvarnung, Malin^{Aff35, Aff36}, Landau, Yuval E.^{Aff38, Aff39, Aff40}, Leppig, Kathleen A., Lindstrand, Anna^{Aff35, Aff36}, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien^{Aff17, Aff48}, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben^{Aff40, Aff51, Aff52, Aff53}, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya^{Aff36, Aff56}, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E.^{Aff24, Aff65}, de Vries, Bert B. A., Dobyns, William B.^{Aff6, Aff66, Aff67}, Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora^{Aff1, Aff68}, Tümer, Zeynep^{Aff3, Aff69}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(5):888-899

المؤلفون: Riggs, Erin Rooney, Bingaman, Taylor I, Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R, Dharmadhikari, Avinash V, Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R, Hughes, Madeline Y, Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka Zola, Aimé, Mah, Michelle, Maloney, Caitlin M, Mohan, Shruthi, Osei-Owusu, Ikeoluwa A, Reble, Emma, Rennie, Olivia, Savatt, Juliann M, Shimelis, Hermela, Siegert, Rebecca K, Sneddon, Tam P, Thaxton, Courtney, Toner, Kelly A, Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H, Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A S, Miller, David T, Schaaf, Christian P

المصدر: Genetics in Medicine (2022-05-25)

مصطلحات موضوعية: Autism, ClinGen, Gene–disease validity, Intellectual disability, Neurodevelopmental disorders, Genetics (clinical), Life sciences, Genetics & genetic processes, Human health sciences, Laboratory medicine & medical technology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Médecine de laboratoire & technologie médicale

Relation: https://api.elsevier.com/content/article/PII:S1098360022007560?httpAccept=text/xml; urn:issn:1098-3600; urn:issn:1530-0366

URL الوصول: https://orbi.uliege.be/handle/2268/292913