State legislative trends related to biomarker testing
Sadigh, Gelareh, Goeckner, Hilary Gee, Kazerooni, Ella A., Johnson, Bruce E., Smith, Robert A., Adams, Devon V., Carlos, Ruth C.
Published in Cancer (01.08.2022)
Published in Cancer (01.08.2022)
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Trends in Use of Next-Generation Sequencing in Patients With Solid Tumors by Race and Ethnicity After Implementation of the Medicare National Coverage Determination
Sheinson, Daniel M, Wong, William B, Meyer, Craig S, Stergiopoulos, Stella, Lofgren, Katherine T, Flores, Carlos, Adams, Devon V, Fleury, Mark E
Published in JAMA network open (01.12.2021)
Published in JAMA network open (01.12.2021)
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shimada, Shino, Ng, Bobby G, White, Amy L, Nickander, Kim K, Turgeon, Coleman, Liedtke, Kristen L, Lam, Christina T, Font-Montgomery, Esperanza, Lourenco, Charles M, He, Miao, Peck, Dawn S, Umana, Luis A, Uhles, Crescenda L, Haynes, Devon, Wheeler, Patricia G, Bamshad, Michael J, Nickerson, Deborah A, Cushing, Tom, Gates, Ryan, Gomez-Ospina, Natalia, Byers, Heather M, Scalco, Fernanda B, Martinez, Noelia N, Sachdev, Rani, Smith, Lacey, Poduri, Annapurna, Malone, Stephen, Harris, Rebekah V, Scheffer, Ingrid E, Rosenzweig, Sergio D, Adams, David R, Gahl, William A, Malicdan, May Christine V, Raymond, Kimiyo M, Freeze, Hudson H, Wolfe, Lynne A, Bamshad, Michael J, Nickerson, Deborah A, Anderson, Peter, Bacus, Tamara J, Blue, Elizabeth E, Brower, Katherine, Buckingham, Kati J, Chong, Jessica X, Davis, Colleen P, Davis, Chayna J, Frazar, Christian D, Gomeztagle-Burgess, Katherine, Gordon, William W, Horike-Pyne, Martha, Hurless, Jameson R, Jarvik, Gail P, Johanson, Eric, Thomas Kolar, J, Marvin, Colby T, McGee, Sean, McGoldrick, Daniel J, Mekonnen, Betselote, Nielsen, Patrick M, Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A, Roote, Gwendolin T, Ryke, Erica L, Shively, Kathryn M, Smith, Joshua D, Tackett, Monica, Weiss, Jeffrey M, Wheeler, Marsha M, Yi, Qian, Zhang, Xiaohong
Published in Journal of medical genetics (05.07.2022)
Published in Journal of medical genetics (05.07.2022)
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Downregulation of collagen XI during late postnatal corneal development is followed by upregulation after injury
Sun, Mei, Cogswell, Devon, Adams, Sheila, Ayoubi, Yasmin, Kumar, Ambuj, Reljic, Tea, Avila, Marcel Y, Margo, Curtis E, Espana, Edgar M
Published in Journal of cell science (01.01.2022)
Published in Journal of cell science (01.01.2022)
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina G.S, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A
Published in The New England journal of medicine (29.11.2018)
Published in The New England journal of medicine (29.11.2018)
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Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2
Macnamara, Ellen F., Koehler, Alanna E., D'Souza, Precilla, Estwick, Tyra, Lee, Paul, Vezina, Gilbert, Fauni, Harper, Braddock, Stephen R., Torti, Erin, Holt, James Matthew, Sharma, Prashant, Malicdan, May Christine V., Tifft, Cynthia J.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
Keehan, Laura, Jiang, Ming‐Ming, Li, Xiaohui, Marom, Ronit, Dai, Hongzheng, Murdock, David, Liu, Pengfei, Hunter, Jill V., Heaney, Jason D., Robak, Laurie, Emrick, Lisa, Lotze, Timothy, Blieden, Lauren S., Lewis, Richard Alan, Levin, Alex V., Capasso, Jenina, Craigen, William J., Rosenfeld, Jill A., Lee, Brendan, Burrage, Lindsay C.
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Multicentre, randomised controlled trial to investigate the effects of parental touch on relieving acute procedural pain in neonates (Petal)
Cobo, Maria M, Moultrie, Fiona, Hauck, Annalisa G V, Crankshaw, Daniel, Monk, Vaneesha, Hartley, Caroline, Evans Fry, Ria, Robinson, Shellie, van der Vaart, Marianne, Baxter, Luke, Adams, Eleri, Poorun, Ravi, Bhatt, Aomesh, Slater, Rebeccah
Published in BMJ open (19.07.2022)
Published in BMJ open (19.07.2022)
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Impact thermochronology and the age of Haughton impact structure, Canada
Young, Kelsey E., van Soest, Matthijs C., Hodges, Kip V., Watson, E. Bruce, Adams, Byron A., Lee, Pascal
Published in Geophysical research letters (16.08.2013)
Published in Geophysical research letters (16.08.2013)
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Expression of a disintegrin and metalloproteinase-33 protein in vocal fold polyps
Akdogan, M V, Erinanc, H, Topal, O, Erbek, S S
Published in Journal of laryngology and otology (01.07.2015)
Published in Journal of laryngology and otology (01.07.2015)
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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The British Rhinological Society multidisciplinary consensus recommendations on the hospital management of epistaxis
Published in Journal of laryngology and otology
(01.12.2017)
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Conference Proceeding
Epistaxis and mortality
Published in Journal of laryngology and otology
(01.12.2018)
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Mao, Dongxue, Reuter, Chloe M., Farrow, Emily G., Rosenfeld, Jill A., Mackenzie, Katherine M., Küry, Sébastien, Genetti, Casie A., Alejandro, Mercedes, Agrawal, Pankaj B., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Beck, Anita, Bellen, Hugo J., Berg-Rood, Beverly, Bernier, Raphael, Bivona, Stephanie, Bohnsack, John, Briere, Lauren C., Burke, Elizabeth A., Butte, Manish J., Carrasquillo, Olveen, Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dhar, Shweta U., Emrick, Lisa T., Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Forghani, Irman, Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Hahn, Sihoun, Hanchard, Neil A., Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Karaviti, Lefkothea, Kelley, Emily G., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez-Agosto, Julian A., McCormack, Colleen E., Merritt, J. Lawrence, Moretti, Paolo M., Mulvihill, John J., Murdock, David R., Nickerson, Deborah, Pallais, J. Carl, Posey, Jennifer E., Potocki, Lorraine, Raja, Archana N., Renteria, Genecee, Rosenfeld, Jill A., Samson, Susan L., Schedl, Timothy, Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Urv, Tiina K., Wahl, Colleen E., Wegner, Daniel, Wheeler, Matthew T., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Bernstein, Jonathan A., Chao, Hsiao-Tuan
Published in American journal of human genetics (02.04.2020)
Published in American journal of human genetics (02.04.2020)
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