المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test

الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test

المؤلفون: Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., Isidor, B., Bedeschi, M. F., Peron, A., Amiel, J., Zackai, E., Schacht, J. P., Iglesias, A. D., Morton, J., Schmetz, A., Seidel, V., Lucia, S., Baskin, S. M., Thiffault, I., Cogan, J. D., Gordon, C. T., Chung, W. K., Bowdin, S., Bhoj, E.

العلاقة: https://doi.org/10.1038/s41431-023-01434-5Test; Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, et al. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European journal of human genetics : EJHG. 2023.; European journal of human genetics; https://hdl.handle.net/11287/622951Test

الإتاحة: https://doi.org/10.1038/s41431-023-01434-5Test
https://hdl.handle.net/11287/622951Test

المؤلفون: Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Grønborg, S, Mercier, S, Küry, S, Bézieau, S, Pasquier, L, Raynaud, M, Afenjar, A, Billette de Villemeur, T, Keren, B, Désir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, López-Otín, C, Santiago-Fernández, O, Fernández-Jaén, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Pena, L, Shashi, V, Schoch, K, Sullivan, JA, Acosta, MT, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Bademci, G, Baker, E, Balasubramanyam, A, Baldridge, D, Barbouth, D, Batzli, GF, Beggs, AH, Bellen, HJ, Bernstein, JA, Berry, GT, Bican, A, Bick, DP, Birch, CL, Bivona, S, Bonnenmann, C, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Carrasquillo, O, Peter Chang, TC, Chao, HT, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Cole, FS, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Wood, Stephen

مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Clinical sciences, Neurosciences, Psychology

العلاقة: Biological Psychiatry; Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Grønborg, S; Mercier, S; Küry, S; Bézieau, S; Pasquier, L; Raynaud, M; Afenjar, A; Billette de Villemeur, T; Keren, B; Désir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; López-Otín, C; Santiago-Fernández, O; Fernández-Jaén, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Peter Chang, TC; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P, Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling, Biological Psychiatry, 2019; http://hdl.handle.net/10072/386708Test

الإتاحة: https://doi.org/10.1016/j.biopsych.2019.05.028Test
http://hdl.handle.net/10072/386708Test

المؤلفون: Johnson, B.V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M.S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Allen, M. van, Gronborg, S., Mercier, S., Kury, S., Bezieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Villemeur, T.B. de, Keren, B., Desir, J., Maldergem, L. van, Marangoni, M., Dikow, N., Koolen, D.A., VanHasselt, P.M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C.F., Lopez-Otin, C., Santiago-Fernandez, O., Fernandez-Jaen, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Mercimek-Andrews, S., Pena, L., Shashi, V., Schoch, K., Sullivan, J.A., Vairo, F.P.E., Pichurin, P.N., Ewing, S.A., Barnett, S.S., Klee, E.W., Perry, M.S., Koenig, M.K., Keegan, C.E., Schuette, J.L., Asher, S., Perilla-Young, Y., Smith, L.D., Rosenfeld, J.A., Bhoj, E., Kaplan, P., Li, D., Oegema, R., Binsbergen, E. van, Zwaag, B. van der, Smeland, M.F., Cutcutache, I., Page, M., Armstrong, M., Lin, A.E., Steeves, M.A., Hollander, N. den, Hoffer, M.J.V., Reijnders, M.R.F., Demirdas, S., Koboldt, D.C., Bartholomew, D., Mosher, T.M., Hickey, S.E., Shieh, C., Sanchez-Lara, P.A., Graham, J.M., Tezcan, K., Schaefer, G.B., Danylchuk, N.R., Asamoah, A., Jackson, K.E., Yachelevich, N., Au, M., Perez-Jurado, L.A., Kleefstra, T., Penzes, P., Wood, S.A., Burne, T., Pierson, T.M., Piper, M., Gecz, J., Jolly, L.A., Acosta, M.T., Adams, D.R., Aday, A., Alejandro, M.E., Allard, P., Ashley, E.A., Azamian, M.S., Bacino, C.A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Barbouth, D., Batzli, G.F., Beggs, A.H., Bellen, H.J., Bernstein, J.A., Berry, G.T., Bican, A., Bick, D.P., Birch, C.L., Bivona, S., Bonnenmann, C., Bonner, D., Boone, B.E., Bostwick, B.L., Briere, L.C., Brokamp, E., Brown, D.M., Brush, M., Burke, E.A., Burrage, L.C., Butte, M.J., Carrasquillo, O., Chang, T.C.P., Chao, H.T., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Cole, F.S., Colley, H.A., Cooper, C.M., Cope, H., Craigen, W.J., D'Souza, P., Dasari, S., Davids, M., Davidson, J.M., Dayal, J.G., Dell'Angelica, E.C., Dhar, S.U., Dorrani, N., Dorset, D.C., Douine, E.D., Draper, D.D., Dries, A.M., Duncan, L., Eckstein, D.J., Emrick, L.T., Eng, C.M., Enns, G.M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E.L., Fisher, P.G., Fogel, B.L., Forghani, I., Friedman, N.D., Gahl, W.A., Godfrey, R.A., Goldman, A.M., Goldstein, D.B., Gourdine, J.P.F., Grajewski, A., Groden, C.A., Gropman, A.L., Haendel, M., Hamid, R., Hanchard, N.A., High, F., Holm, I.A., Hom, J., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jiang, Y.H., Johnston, J.M., Jones, A.L., Karaviti, L., Kelley, E.G., Koeller, D.M., Kohane, I.S., Kohler, J.N., Krakow, D., Krasnewich, D.M., Korrick, S., Koziura, M., Krier, J.B., Kyle, J.E., Lalani, S.R., Lam, B., Lanpher, B.C., Lanza, I.R., Lau, C.C., Lazar, J., LeBlanc, K., Lee, B.H., Lee, H., Levitt, R., Levy, S.E., Lewis, R.A., Lincoln, S.A., Liu, P.F., Liu, X.Z., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Majcherska, M.M., Malicdan, M.C.V., Mamounas, L.A., Manolio, T.A., Markello, T.C., Marom, R., Martin, M.G., Martinez-Agosto, J.A., Marwaha, S., May, T., McCauley, J., McConkie-Rosell, A., McCormack, C.E., McCray, A.T., Merker, J.D., Metz, T.O., Might, M., Morava-Kozicz, E., Moretti, P.M., Morimoto, M., Mulvihill, J.J., Murdock, D.R., Nath, A., Nelson, S.F., Newberry, J.S., Newman, J.H., Nicholas, S.K., Novacic, D., Oglesbee, D., Orengo, J.P., Pak, S., Pallais, J.C., Palmer, C.G.S., Papp, J.C., Parker, N.H., Phillips, J.A., Posey, J.E., Postlethwait, J.H., Potocki, L., Pusey, B.N., Renteri, G., Reuter, C.M., Rives, L., Robertson, A.K., Rodan, L.H., Rowley, R.K., Sacco, R., Sampson, J.B., Samson, S.L., Saporta, M., Schaechter, J., Schedl, T., Scott, D.A., Shakachite, L., Sharma, P., Shields, K., S

المصدر: Biological Psychiatry

مصطلحات موضوعية: Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGF beta, USP9X

وصف الملف: application/pdf

العلاقة: https://www.sciencedirect.com/science/article/pii/S0006322319314799?via%3DihubTest; lumc-id: 81345414; https://hdl.handle.net/1887/3181481Test

الإتاحة: https://doi.org/10.1016/j.biopsych.2019.05.028Test
https://hdl.handle.net/1887/3181481Test
https://www.sciencedirect.com/science/article/pii/S0006322319314799?via%3DihubTest

المؤلفون: Kelly, M, Park, M, Mihalek, I, Rochtus, A, Gramm, M, Perez-Palma, E, Axeen, ET, Hung, CY, Olson, H, Swanson, L, Anselm, I, Briere, LC, High, FA, Sweetser, DA, Kayani, S, Snyder, M, Calvert, S, Scheffer, IE, Yang, E, Waugh, JL, Lal, D, Bodamer, O, Poduri, A, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Baker, E, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bellen, HJ, Bernstein, JA, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Davidson, JM, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Dries, AM, Eckstein, DJ, Emrick, LT, Eng, CM, Enns, G-GM, Eskin, A, Esteves, C, Estwick, T, Fairbrother, L, Fernandez, L, Ferreira, C, Fieg, EL, Fisher, PG, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldman, AM, Goldstein, DB, Gould, SE, Gourdine, J-PF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, High, F, Holm, IA, Horn, J, Howerton, EM, Huang, Y, Jamal, F, Jiang, Y-H, Johnston, JM, Jones, AL, Karaviti, L, Koeller, DM, Kohane, IS, Kohler, JN, Konick, S, Koziura, M, Krasnewich, DM, Krier, JB, Kyle, JE, Lalani, SR, Lau, CC, Lazar, J, LeBlanc, K, Lee, BH, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majch-erska, MM, Malicdan, MC, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martin, MG, Martinez-Agosto, JA, Mar-waha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AF, Merker, JD, Metz, TO, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murdock, DR, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Orengo, JP, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Rives, L, Robertson, AK, Rodan, LH, Rosenfeld, JA, Sampson, JB, Samson, SL, Schoch, K, Scott, DA, Shakachite, L, Sharma, P, Shashi, V, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Spillmann, RC, Stoler, JM, Stong, N, Sullivan, JA, Tan, QK-G, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Vilain, E, Vogel, TP, Waggott, DM, Wahl, CE, Walker, M, Walley, NM, Walsh, CA, Wan, J, Wangler, MF, Ward, PA, Waters, KM, Webb-Robertson, B-JM, Westerfield, M, Wheeler, MT, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, Y, Yoon, AJ, Yu, G, Zastrow, DB, Zhao, C, Zheng, A

العلاقة: Kelly, M., Park, M., Mihalek, I., Rochtus, A., Gramm, M., Perez-Palma, E., Axeen, E. T., Hung, C. Y., Olson, H., Swanson, L., Anselm, I., Briere, L. C., High, F. A., Sweetser, D. A., Kayani, S., Snyder, M., Calvert, S., Scheffer, I. E., Yang, E. ,. Zheng, A. (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. EPILEPSIA, 60 (3), pp.406-418. https://doi.org/10.1111/epi.14653Test.; http://hdl.handle.net/11343/285365Test

الإتاحة: https://doi.org/10.1111/epi.14653Test
http://hdl.handle.net/11343/285365Test

المؤلفون: Palmer, CGS, McConkie-Rosell, A, Holm, IA, LeBlanc, K, Sinsheimer, JS, Briere, LC, Dorrani, N, Herzog, MR, Lincoln, S, Schoch, K, Spillmann, RC, Brokamp, E, Network, UD

المصدر: Journal of genetic counseling, vol 27, iss 5
Palmer, CGS; McConkie-Rosell, A; Holm, IA; LeBlanc, K; Sinsheimer, JS; Briere, LC; et al.(2018). Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. JOURNAL OF GENETIC COUNSELING, 27(5), 1087-1101. doi: 10.1007/s10897-018-0228-6. UCLA: Retrieved from: http://www.escholarship.org/uc/item/22q6q61hTest

مصطلحات موضوعية: Parents, Adult, Male, Decision Making, Clinical Sciences, Pilot Projects, Genetic Counseling, Clinical Research, Surveys and Questionnaires, Diagnosis, Humans, Patient Reported Outcome Measures, Adaptation, Child, Genetics & Heredity, Undiagnosed condition, Uncertainty, Reproducibility of Results, Infant, Disease Management, Undiagnosed Diseases Network, Support groups, Power, Psychological, Female, Empowerment, Undiagnosed disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29756da8ceb75a1a6596314c16fa16c9Test
https://escholarship.org/uc/item/22q6q61hTest