المؤلفون: Nicoletti, Paola, Zafer, Samreen, Matok, Lital, Irron, Inbar, Patrick, Meidva, Haklai, Rotem, Evangelista, John, Erol, Marino, Giacomo, B, Ma’ayan, Avi, Sewda, Anshuman, Holmes, Greg, Britton, Sierra, R, Lee, Won, Jun, Wu, Meng, Ru, Ying, Arnaud, Eric, Botto, Lorenzo, Brody, Lawrence, C, Byren, Jo, C, Caggana, Michele, Carmichael, Suzan, L, Cilliers, Deirdre, Conway, Kristin, Crawford, Karen, Cuellar, Araceli, Di Rocco, Federico, Engel, Michael, Fearon, Jeffrey, Feldkamp, Marcia, L, Finnell, Richard, Fisher, Sarah, Freudlsperger, Christian, Garcia-Fructuoso, Gemma, Hagge, Rhinda, Heuzé, Yann, Harshbarger, Raymond, J, Hobbs, Charlotte, Howley, Meredith, Jenkins, Mary, M, Johnson, David, Justice, Cristina, M, Kane, Alex, Kay, Denise, Gosain, Arun, Kumar, Langlois, Peter, Legal-Mallet, Laurence, Lin, Angela, E, Mills, James, L, Morton, Jenny, E V, Noons, Peter, Olshan, Andrew, Persing, John, Phipps, Julie, M, Redett, Richard, Reefhuis, Jennita, Rizk, Elias, Samson, Thomas, D, Shaw, Gary, M, Sicko, Robert, Smith, Nataliya, Staffenberg, David, Stoler, Joan, Sweeney, Elizabeth, Taub, Peter, J, Timberlake, Andrew, T, Topczewska, Jolanta, Wall, Steven, A, Wilson, Alexander, F, Wilson, Louise, C, Boyadjiev, Simeon, A, Wilkie, Andrew, O M, Richtsmeier, Joan, T, Jabs, Ethylin, Wang, Romitti, Paul, A, Karasik, David, Birnbaum, Ramon, Y, Peter, Inga

المساهمون: Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie (PACEA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Bases moléculaires et physiopathologiques des ostéochondrodysplasies = Molecular and physiopathological bases of osteochondrodysplasia, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), This work was supported in part by the National Institutes of Health, United States (NIH) R01 DE16886 (S.A.B. and P.A.R.), R03 DE031061 (S.A.B. and P.A.R.), X01 HL140535 Gabriela Miller KidsFirst program (S.A.B.), U01 DE024448 (E.W.J.), P01 HD078233 (E.W.J., J.T.R., I.P., and P.A.R.), and R01 DE030596 (G.H.), the NIH Intramural Research Program (HHSN01DK73431, N275201100001I, HHSN275201100001C, and HHSN275201100001G to J.M.), Centers for Disease Control and Prevention (CDC) R01 DD000350 (E.W.J.), cooperative agreements PA #96043, PA #02081, FOA #DD09-001, FOA #DD13-003, and NOFO #DD18-001 to the Centers for Birth Defects Research and Prevention participating in the National Birth Defects Prevention Study and/or the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS), grants (U01 DD001035 and U01 DD001223) awarded to the Iowa Center for Birth Defects Research and Prevention (P.A.R. and K.M.C.), US-Israel Binational Science Foundation BSF #2021102 (I.P. and R.B.), and Wellcome Investigator Award 102731 (A.O.M.W.). This work was supported in part through the computational and data resources and staff expertise provided by Scientific Computing at the Icahn School of Medicine at Mount Sinai supported by the Office of Research Infrastructure of the National Institutes of Health under award S10OD026880 and S10OD030463 and by the Clinical and Translational Science Award grant UL1TR004419 from the NIH National Center for Advancing Translational Sciences.

المصدر: ISSN: 2949-7744 ; Genetics in Medicine Open ; https://hal.science/hal-04677511 ; Genetics in Medicine Open, 2024, 2, pp.101851. ⟨10.1016/j.gimo.2024.101851⟩.

مصطلحات موضوعية: Craniosynostosis, DLX6 DLX5, GWAS, Regulatory elements, SEM1, Coronal Nonsyndromic, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]

Relation: hal-04677511; https://hal.science/hal-04677511; https://hal.science/hal-04677511/document; https://hal.science/hal-04677511/file/Nicoletti%20et%20al%202024.pdf

الاتاحة: https://hal.science/hal-04677511
https://hal.science/hal-04677511/document
https://hal.science/hal-04677511/file/Nicoletti%20et%20al%202024.pdf
https://doi.org/10.1016/j.gimo.2024.101851

المؤلفون: Moscarelli, Jake, Almeida, Mariana N., Lacadie, Cheryl, Hu, Kevin G., Ihnat, Jacqueline MH, Parikh, Neil, Persing, John A., Alperovich, Michael

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 12, issue S4, page 38-38 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0001015308.49191.ae
https://journals.lww.com/10.1097/01.GOX.0001015308.49191.ae

المؤلفون: Moscarelli, Jake, Almeida, Mariana N., Lacadie, Cheryl, Hu, Kevin G., Ihnat, Jacqueline M., Parikh, Neil, Persing, John A., Alperovich, Michael

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 12, issue S5, page 127-127 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0001018968.87118.ff
https://journals.lww.com/10.1097/01.GOX.0001018968.87118.ff

المؤلفون: Almeida, Mariana N., Alper, David P., Barrero, Carlos, Parikh, Neil, Hauc, Sacha C., Moscarelli, Jake, Golinko, Michael, Persing, John, Swanson, Jordan, Alperovich, Michael

المصدر: Child's Nervous System; Dec2024, Vol. 40 Issue 12, p3971-3982, 12p

مصطلحات موضوعية: CHILD Behavior Checklist, EXECUTIVE function, AUTISM spectrum disorders, BEHAVIORAL assessment, COMPUTED tomography

المؤلفون: Alper, David P., Almeida, Mariana N., Hu, Kevin G., De Baun, Heloise M., Hosseini, Helia, Williams, Mica C.G., Salib, Andrew, Shah, Jinesh, Persing, John A., Alperovich, Michael

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 11, issue 11, page e5366 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/gox.0000000000005366
https://journals.lww.com/10.1097/GOX.0000000000005366

المؤلفون: Allam, Omar, Williams, Mica, Almeida, Mariana, Alper, David, Craver, Andrew, Persing, John, Alperovich, Michael

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 11, issue 10S, page 132-133 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0000992588.09873.87
https://journals.lww.com/10.1097/01.GOX.0000992588.09873.87

المؤلفون: Timberlake, Andrew T., Quiat, Daniel, Cunningham, Michael L., Persing, John, Luquetti, Daniela, Heike, Carrie L., Seidman, Jonathan, Seidman, Christine

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 11, issue 4S, page 37-38 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0000934424.89703.d0
https://journals.lww.com/10.1097/01.GOX.0000934424.89703.d0

المؤلفون: Almeida, Mariana N., Long, Aaron S., Alper, David P., Hauc, Sacha C., Carlo Rivera, Jean, Mayes, Linda, Persing, John A., Alperovich, Michael

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 11, issue 5S, page 17-18 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0000937700.78240.57
https://journals.lww.com/10.1097/01.GOX.0000937700.78240.57

المؤلفون: Almeida, Mariana N., Long, Aaron S., Hauc, Sacha C., Alper, David P., Mozaffari, Mohammad Ali, Rivera, Jean Carlo, Beiriger, Justin, Goldstein, Jesse, Mayes, Linda, Persing, John A., Alperovich, Michael

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 11, issue 4S, page 20-20 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0000934284.33532.e8
https://journals.lww.com/10.1097/01.GOX.0000934284.33532.e8

المؤلفون: Timberlake, Andrew T., Quiat, Daniel, Cunningham, Michael, Persing, John, Luquetti, Daniela V., Heike, Carrie L., Seidman, Jonathan, Seidman, Christine

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 11, issue 5S, page 1-1 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0000937600.62921.32
https://journals.lww.com/10.1097/01.GOX.0000937600.62921.32

المؤلفون: Timberlake, Andrew T., McGee, Stephen, Allington, Garrett, Kiziltug, Emre, Wolfe, Erin M., Stiegler, Amy L., Boggon, Titus J., Sanyoura, May, Morrow, Michelle, Wenger, Tara L., Fernandes, Erica M., Caluseriu, Oana, Persing, John A., Jin, Sheng Chih, Lifton, Richard P., Kahle, Kristopher T., Kruszka, Paul

المساهمون: Wellcome Trust

المصدر: The American Journal of Human Genetics ; volume 110, issue 5, page 846-862 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.03.017
https://api.elsevier.com/content/article/PII:S0002929723001015?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723001015?httpAccept=text/plain

المؤلفون: Almeida, Mariana N., Long, Aaron S., Junn, Adam H., Rivera, Jean Carlo, Hauc, Sacha C., Alper, David P., Glahn, Joshua Z., Williams, Mica C.G., Persing, John A., Alperovich, Michael

المصدر: Transgender Health; Oct2024, Vol. 9 Issue 5, p436-443, 8p

مصطلحات موضوعية: MAXILLOFACIAL surgery, HEALTH services accessibility, ANDROGEN-insensitivity syndrome, HEALTH insurance, FUNCTIONAL assessment, QUESTIONNAIRES, BODY image, RHINOPLASTY, AGE distribution, RETROSPECTIVE studies, DESCRIPTIVE statistics, SURVEYS, PERSONAL beauty, HORMONE therapy, SOCIAL skills, MEDICAL records, ACQUISITION of data, STATISTICS, PATIENT satisfaction, HEALTH outcome assessment, DATA analysis software, PATIENT decision making, PATIENT aftercare, REGRESSION analysis

المؤلفون: Long, Aaron S., Hauc, Sacha C., Almeida, Mariana N., Alper, David P., Beiriger, Justin, Rivera, Jean Carlo, Goldstein, Jesse, Mayes, Linda, Persing, John A., Alperovich, Michael

المصدر: Plastic & Reconstructive Surgery; Oct2024, Vol. 154 Issue 4, p824-835, 12p

المؤلفون: Timberlake, Andrew T., Hemal, Kshipra, Gustafson, Jonas A., Le Thi Hao, Valenzuela, Irene, Slavotinek, Anne, Cunningham, Michael L., Kahle, Kristopher T., Lifton, Richard P., Persing, John A.

المصدر: Journal of Neurosurgery: Pediatrics; Sep2024, Vol. 34 Issue 3, p246-251, 6p

المؤلفون: Alper, David P., Almeida, Mariana N., Hu, Kevin G., Yang, Jenny F., Timberlake, Andrew T., Shah, Jinesh, Persing, John A., Alperovich, Michael

المصدر: Journal of Neurosurgery: Pediatrics; Sep2024, Vol. 34 Issue 3, p234-245, 12p

المؤلفون: Almeida, Mariana N., Alper, David P., Parikh, Neil, De Baun, Heloise, Kammien, Alex, Persing, John A., Alperovich, Michael

المصدر: Child's Nervous System; Sep2024, Vol. 40 Issue 9, p2789-2799, 11p

مصطلحات موضوعية: CHILD Behavior Checklist, WECHSLER Adult Intelligence Scale, EXECUTIVE function, INTELLIGENCE levels, BEHAVIORAL assessment

المؤلفون: Moscarelli, Jake, Hu, Kevin G., Alper, David, Rancu, Albert, Salib, Andrew, Ihnat, Jacqueline M. H., Parikh, Neil, Persing, John A., Alperovich, Michael

المصدر: Journal of Craniofacial Surgery; Sep2024, Vol. 35 Issue 6, p1612-1615, 4p

المؤلفون: Persing, John R.

الاتاحة: http://etda.libraries.psu.edu/theses/approved/WorldWideIndex/ETD-1224/index.html

المؤلفون: Yale Center for Genome Analysis, Timberlake, Andrew T., Jin, Sheng Chih, Nelson-Williams, Carol, Wu, Robin, Furey, Charuta G., Islam, Barira, Haider, Shozeb, Loring, Erin, Galm, Amy, Steinbacher, Derek M., Larysz, Dawid, Staffenberg, David A., Flores, Roberto L., Rodriguez, Eduardo D., Boggon, Titus J., Persing, John A., Lifton, Richard P.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2019 Jul . 116(30), 15116-15121.

URL الوصول: https://www.jstor.org/stable/26848335

المؤلفون: Smetona, John T., Persing, John A.

المصدر: Neuroscience for Neurosurgeons ; page 326-334 ; ISBN 9781108917339 9781108831468

الاتاحة: http://dx.doi.org/10.1017/9781108917339.024