المؤلفون: Alena Egense, Timothy Do, Kristin Herman, James Brandt, Suma Shankar

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101221- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003674; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c4b14d978f294ec4a13e4a405f5e51a6

المؤلفون: Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)

مصطلحات موضوعية: Angelman syndrome, case report, expressive language, mosaicism, MS‐MLPA, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/adafd90374a5420e863526f399ca94f6

المؤلفون: Vincent Duong Tang, Alena Egense, Glenn Yiu, Elijah Meyers, Ala Moshiri, Suma P. Shankar

المصدر: American Journal of Ophthalmology Case Reports, Vol 27, Iss , Pp 101613- (2022)

مصطلحات موضوعية: Alstrom syndrome, Bardet Biedl syndrome, Refsum disease, Retinal dystrophies, Genetic testing, Genome sequencing, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993622003590; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/dbb2179bcfca475c8c18d5c90a54adf6

المؤلفون: Suma P. Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg, Lama AlAbdi, Klaus Mayer, Koray Ütkür, Kristin G. Monaghan, Joel Krier, Joan Stoler, Maha Alnemer, Prabhu R. Shankar, Raffael Schaffrath, Fowzan S. Alkuraya, Ulrich Brinkmann, Leif A. Eriksson, Kent Lloyd, Katherine A. Rauen, Maria T. Acosta, Margaret Adam, David R. Adams, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D'Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Matthew Deardorff, Esteban C. Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Madison P. Goldrich, Alana Grajewski, Irma Gutierrez, Don Hadley, Sihoun Hahn, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Wendy Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Jennifer Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Susan Korrick, Mary Koziura, Seema R. Lalani, Byron Lam, Christina Lam, Grace L. LaMoure, Brendan C. Lanpher, Ian R. Lanza, Kimberly LeBlanc, Brendan H. Lee, Roy Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo M. Moretti, Mariko Nakano-Okuno, Stan F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, Archana N. Raja, Deepak A. Rao, Anna Raper, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, C. Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Jennifer A. Sullivan, Kathleen Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Amelia L.M. Tan, K.-G. Queenie, Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie Wallace, Nicole M. Walley, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz-Hubshman, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Kim Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Diane B. Zastrow, Zhe Zhang, Chunli Zhao, Stephan Zuchner, Hugo Bellen, Rachel Mahoney

المصدر: Genet Med

مصطلحات موضوعية: Adenosine Diphosphate, Mice, Inbred C57BL, Mice, Saccharomyces cerevisiae Proteins, Neurodevelopmental Disorders, Animals, Humans, Histidine, Methyltransferases, Saccharomyces cerevisiae, Syndrome, Genetics (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2849ecd621bdfbc498f29cf1d7b8323a
https://europepmc.org/articles/PMC9598985/

المؤلفون: Stacey Cole, Alena Egense, Ayaka Suzuki, Madelena Martin, Colette DeFilippo, Katherine Rauen, Suma Shankar

المصدر: Genetics in Medicine. 24:S66-S67

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::226e557781c3356a363e61c48882660a
https://doi.org/10.1016/j.gim.2022.01.139

المؤلفون: William E. Tidyman, Yoshiko Maeda, Alena Egense, Katherine A. Rauen

المصدر: American journal of medical genetics. Part AREFERENCES. 185(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Heart Defects, Congenital, Male, Proto-Oncogene Proteins B-raf, MAP Kinase Kinase 2, MAP Kinase Kinase 1, 030105 genetics & heredity, RASopathy, medicine.disease_cause, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Germline mutation, Ectodermal Dysplasia, Pregnancy, Genetics, Medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Kinase activity, Family history, Index case, Genetics (clinical), Germ-Line Mutation, Genetic testing, medicine.diagnostic_test, business.industry, Kinase, Facies, medicine.disease, Failure to Thrive, 030104 developmental biology, Child, Preschool, Cancer research, Female, KRAS, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ec0e2310b6734178972f9b7cec92a9
https://pubmed.ncbi.nlm.nih.gov/33274568

المؤلفون: Alena Egense, Kristin A. Maloney, Yue Guan, Shannan DeLany Dixon, Jessica Nieto, Kristen Leppert, Katharine Bisordi

المصدر: Journal of Genetic Counseling

مصطلحات موضوعية: Newborn screening, Adult, Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Attitude of Health Personnel, Genetic counseling, Genetic counselors, Genetic Counseling, Qualitative property, Disclosure, 030105 genetics & heredity, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Informed consent, medicine, Humans, Genetic Testing, Genetics (clinical), Original Research, Genetic testing, Incidental Findings, medicine.diagnostic_test, Public health, Infant, Newborn, Middle Aged, Additional research, Policy, Counselors, Carrier status, Heterozygous, 030220 oncology & carcinogenesis, Female, Thematic analysis, Psychology, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c8aec1493a9b0605b3892b3576ffd7
https://doi.org/10.1007/s10897-018-0258-0

المؤلفون: Alena Egense, Katherine A. Rauen

المصدر: Molecular Genetics and Metabolism. 132:S88

مصطلحات موضوعية: Combinatorics, Endocrinology, Intersection, SETD2, Endocrinology, Diabetes and Metabolism, Genetics, SETD2 gene, Biology, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e0cebe767cfa2cc5a7ae0b1feb8c875b
https://doi.org/10.1016/s1096-7192(21)00216-x

المؤلفون: Blake D. Hansen, Sylvia A. Huisman, Lynne M. Kerr, Ian D. Krantz, Matthew A. Deardorff, Jason A. Mills, Alena Egense, Jeremy Morgan, Meng Wu, Dale Dorsett, Devanshi Mehta, Olivia L. Katz, Katsuhiko Shirahige, Sarah E. Noon, Chiara Bettale, Pamela S. Herrera, Richard E. Haaland, Joseph P. McCleery, Antonie D. Kline, Cheri S. Carrico, Jo Moss, Siddharth Srivastava, Emily Taylor-Snell, Jennifer L. Gerton, Marco A. Grados, Antonio Musio, Anne L. Calof, Julia A. Horsfield

المساهمون: Amsterdam Neuroscience - Complex Trait Genetics, Other departments

المصدر: American journal of medical genetics. Part A, 173(5), 1172-1185. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Cornelia de Lange Syndrome, Cohesin complex, Genetic counseling, Diagnostic test, medicine.disease, Medical care, Article, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Autism, Psychiatry, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::555518f8640e766b035b33ceca64ea45
https://doi.org/10.1002/ajmg.a.38161

المؤلفون: Adi Algrabli, Sonal Mahida, William Allen, Cruz Velasco Gonzalez, Marta Szybowska, Aditi Shah Parikh, Quinn Stein, Katie Golden-Grant, David B. Everman, Hailey Pinz, Chumei Li, Mary-Alice Abbott, Anita E. Beck, Alice Basinger, Rebecca McClellan, Victoria Mok Siu, Brittney Knyszek, Leah Fleming, Caroline Brain, Angela Sun, Chantalle Raimondi, Elizabeth A. Sellars, Arti Pandya, Anne Slavotinek, Wendy E. Smith, Meena Balasubramanian, Hazel Perry, Elaine H. Zackai, Michelle Steinraths, E. Martina Bebin, Amelia Kirby, Nathaniel H. Robin, Yuri A. Zarate, Holly Dubbs, Julie Kaylor, Wendy K. Chung, Xilma R. Ortiz-Gonzalez, Margarita Saenz, Louisa Kalsner, Constance Smith-Hicks, Louise C. Wilson, Allison D. Britt, Hilary J. Vernon, Michael J. Gambello, Joseph W. Ray, Katherine A. Bosanko, Carol L. Greene, Samantha A. Schrier Vergano, Julie S. Cohen, Cynthia M. Powell, Jonathan Picker, Alena Egense, Suzanna Schott, Amy R. U. L. Calhoun, Ajith Kuttannair Kumar, Brad Angle, Ali Fatemi, Hannah Bombei

المصدر: Paediatrics Publications

مصطلحات موضوعية: single nucleotide, 0301 basic medicine, Male, Pediatrics, genetic association studies, Inheritance Patterns, polymorphism, Genotype, SATB2-associated syndrome, Medicine, Young adult, Child, Genotype-Phenotype Correlations, Genetics (clinical), Limited speech, Syndrome, multiple, Natural history, female, Phenotype, natural history, Child, Preschool, Female, abnormalities, SATB, Adult, medicine.medical_specialty, Adolescent, phenotype, genotype-phenotype correlation, Polymorphism, Single Nucleotide, preschool, 03 medical and health sciences, Young Adult, transcription factors, Genetics, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Craniofacial, Genetic Association Studies, business.industry, Facies, Infant, Matrix Attachment Region Binding Proteins, medicine.disease, Crowding, 030104 developmental biology, Macrodontia (tooth), facial recognition technology, business, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383416bf76e65b20350d3043c8b734b4
https://ir.lib.uwo.ca/paedpub/138

المؤلفون: Yuri A. Zarate, Constance L. Smith‐Hicks, Carol Greene, Mary‐Alice Abbott, Victoria M. Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie Kaylor, Katherine Bosanko, Louisa Kalsner, Alice Basinger, Anne M. Slavotinek, Hazel Perry, Margarita Saenz, Marta Szybowska, Louise C. Wilson, Ajith Kumar, Caroline Brain, Meena Balasubramanian, Holly Dubbs, Xilma R. Ortiz‐Gonzalez, Elaine Zackai, Quinn Stein, Cynthia M. Powell, Samantha Schrier Vergano, Allison Britt, Angela Sun, Wendy Smith, E. Martina Bebin, Jonathan Picker, Amelia Kirby, Hailey Pinz, Hannah Bombei, Sonal Mahida, Julie S. Cohen, Ali Fatemi, Hilary J. Vernon, Rebecca McClellan, Leah R. Fleming, Brittney Knyszek, Michelle Steinraths, Cruz Velasco Gonzalez, Anita E. Beck, Katie L. Golden‐Grant, Alena Egense, Aditi Parikh, Chantalle Raimondi, Brad Angle, William Allen, Suzanna Schott, Adi Algrabli, Nathaniel H. Robin, Joseph W. Ray, David B. Everman, Michael J. Gambello, Wendy K. Chung

المصدر: American Journal of Medical Genetics Part A. 176

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0f861e0c9bb341eb303bd5df250ccfc3
https://doi.org/10.1002/ajmg.a.38671

المؤلفون: Katsuhiko Shirahige, Jenni Glad Timmons, Julie Woodman, Julia O'Connor, Kyoko Yokomori, Blake D. Hansen, Musinu Zakari, Dale Dorsett, Yvon Bryan, Antonie D. Kline, Ian D. Krantz, Laura Rachele Bettini, Jennifer L. Gerton, Matthew A. Deardorff, Arthur D. Lander, Yaning Wu, Natalie Blagowidow, Antonio Musio, Richard E. Haaland, Alena Egense, Anne L. Calof, Siddharth Srivastava, Devanshi Mehta, Paul C. Megee, Stacey L. Ishman, Maurice Belote, Marjorie T. Goodban, Jason A. Mills, Rosaysela Santos, Sarah E. Noon

المصدر: American Journal of Medical Genetics Part A. 167:1179-1192

مصطلحات موضوعية: Medical education, Cornelia de Lange Syndrome, Cohesin complex, Basic research, education, Intellectual disability, Genetics, medicine, Psychology, medicine.disease, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ddcd3dc731b02dc1d2d95b7ddc643fe
https://doi.org/10.1002/ajmg.a.37056

المؤلفون: Valerie J. Dawson, Melanie Leu, Alena Egense, Laura Malone, Laide Jinadu, David T. Dao, Janet L. Alexander

المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 22:329-331.e1

مصطلحات موضوعية: medicine.medical_specialty, Sarcoidosis, 030232 urology & nephrology, Tubulointerstitial nephritis and uveitis, Asymptomatic, Uveitis, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child, Acute interstitial nephritis, business.industry, medicine.disease, Uveitis, Anterior, Dermatology, Ophthalmology, Pediatric patient, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Nephritis, Interstitial, Female, Anterior uveitis, medicine.symptom, business, Nephritis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0d3cf413c12a91fc75ca9b618edea1
https://doi.org/10.1016/j.jaapos.2018.02.004