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: Tooze, R. S., Miller, K. A., Swagemakers, S. M. A., Calpena, E., Mcgowan, S. J., Boute, Odile, Collet, C., Johnson, D., De Leeuw, N., Morton, J. V., Noons, P., Ockeloen, C. W., Phipps, J. M., Tan, T. Y., Timberlake, A. T., Vanlerberghe, Clemence, Wall, S. A., Weber, A., Wilson, L. C., Zackai, E. H., Mathijssen, I. M. J., Twigg, S. R. F., Wilkie, A. O. M.

المساهمون: Université de Lille, CHU Lille, The Weatherall Institute of Molecular Medicine, University of Oxford, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, AP-HP Hôpital universitaire Robert-Debré Paris

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Genetics in Medicine Open; Genet Med; http://hdl.handle.net/20.500.12210/84466

الاتاحة: https://hdl.handle.net/20.500.12210/84466

المؤلفون: Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.

المصدر: Tooze , R S , Miller , K A , Swagemakers , S M A , Calpena , E , McGowan , S J , Boute , O , Collet , C , Johnson , D , Laffargue , F , de Leeuw , N , Morton , J V , Noons , P , Ockeloen , C W , Phipps , J M , Tan , T Y , Timberlake , A T , Vanlerberghe , C , Wall , S A , Weber , A , Wilson , L C , Zackai , E H , Mathijssen ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/cad1ff61-0bb8-428b-9f2b-84f7c461ed30
https://doi.org/10.1016/j.gim.2023.100883
https://pure.eur.nl/ws/files/95717762/Pathogenic_variants_in_the_paired-related_homeobox_1_gene_PRRX1_cause_craniosynostosis_with_incomplete_penetrance.pdf
http://www.scopus.com/inward/record.url?scp=85161663743&partnerID=8YFLogxK

المؤلفون: Parenti, I., Lehalle, D., Nava, C., Torti, E., Leitão, E., Person, R., Mizuguchi, T., Matsumoto, N., Kato, M., Nakamura, K., De Man, S. A., Cope, H., Shashi, V., Friedman, J., Joset, P., Steindl, K., Rauch, A., Muffels, I., Van Hasselt, P. M., Petit, Florence, Smol, T., Le Guyader, G., Bilan, F., Sorlin, A., Vitobello, A., Philippe, C., Van De Laar, I. M. B. H., Van Slegtenhorst, M. A., Campeau, P. M., Au, P. Y. B., Nakashima, M., Saitsu, H., Yamamoto, T., Nomura, Y., Louie, R. J., Lyons, M. J., Dobson, A., Plomp, A. S., Motazacker, M. M., Kaiser, F. J., Timberlake, A. T., Fuchs, S. A., Depienne, C., Mignot, C.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Human Genetics; Hum Genet; http://hdl.handle.net/20.500.12210/84176

الاتاحة: https://hdl.handle.net/20.500.12210/84176

المؤلفون: Kundishora, Adam J, Allington, Garrett, McGee, Stephen, Mekbib, Kedous Y, Gainullin, Vladimir, Timberlake, Andrew T, Nelson-Williams, Carol, Kiziltug, Emre, Smith, Hannah, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q, Elsamadicy, Aladine A, Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M, DiLuna, Michael L, Mane, Shrikant, Tikhonova, Irina R, Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R, Furey, Charuta G, Carter, Bob S, Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L, Gunel, Murat, Millan, Francisca, Lifton, Richard P, Torene, Rebecca I, Jin, Sheng Chih, Kahle, Kristopher T

المصدر: Nature Medicine , 29 pp. 667-678. (2023)

مصطلحات موضوعية: Brain, Development of the nervous system, Disease genetics, Medical genomics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdf; https://discovery.ucl.ac.uk/id/eprint/10166692/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10166692/1/147973_0_art_file_1133662_rcbb0h.pdf
https://discovery.ucl.ac.uk/id/eprint/10166692/

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: Verzella, Alexandra N., Laspro, Matteo, Brydges, Hilliard T., Chaya, Bachar F., Timberlake, Andrew T., Cassidy, Michael F., Rodriguez, Eduardo D., Flores, Roberto L.

المصدر: Plastic and Reconstructive Surgery - Global Open ; volume 11, issue 4S, page 76-76 ; ISSN 2169-7574

الاتاحة: http://dx.doi.org/10.1097/01.gox.0000934728.24815.25
https://journals.lww.com/10.1097/01.GOX.0000934728.24815.25

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: Quiat, Daniel, Timberlake, Andrew T., Curran, Justin J., Cunningham, Michael L., McDonough, Barbara, Artunduaga, Maria A., DePalma, Steven R., Duenas-Roque, Milagros M., Gorham, Joshua M., Gustafson, Jonas A., Hamdan, Usama, Hing, Anne V., Hurtado-Villa, Paula, Nicolau, Yamileth, Osorno, Gabriel, Pachajoa, Harry, Porras-Hurtado, Gloria L., Quintanilla-Dieck, Lourdes, Serrano, Luis, Tumblin, Melissa, Zarante, Ignacio, Luquetti, Daniela V., Eavey, Roland D., Heike, Carrie L., Seidman, Jonathan G., Seidman, Christine E.

المصدر: Genetics in Medicine ; volume 25, issue 1, page 143-150 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.09.005
https://api.elsevier.com/content/article/PII:S1098360022009418?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022009418?httpAccept=text/plain

المؤلفون: Kerner, Gaspard, Bouaziz, Matthieu, Cobat, Aurélie, Bigio, Benedetta, Timberlake, Andrew T., Bustamante, Jacinta, Lifton, Richard P., Casanova, Jean-Laurent, Abel, Laurent

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Aug 01. 117(32), 19367-19375.

URL الوصول: https://www.jstor.org/stable/26968713

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: 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: Phillips, Brett T., Alser, Osaid, Firmani, Guido, Halani, Sameer H., Karamitros, Georgios, Lu, Karen B., Lupon, Elise, Saffari, Tiam Mana, Salazar, Bruno A., Siotos, Charalampos, Timberlake, Andrew T.

المصدر: Plastic & Reconstructive Surgery ; volume 153, issue 4, page 979-982 ; ISSN 0032-1052

الاتاحة: http://dx.doi.org/10.1097/prs.0000000000011252
https://journals.lww.com/10.1097/PRS.0000000000011252

المؤلفون: Timberlake, Maria T. (ORCID 0000-0001-8793-7450)

المصدر: International Journal of Inclusive Education. 2018 22(9):954-968.

Peer Reviewed: Y

Page Count: 15

Descriptors: Inclusion, Special Education Teachers, Teacher Attitudes, Intellectual Disability, Access to Education, Economic Factors, Decision Making, Elementary School Teachers, Secondary School Teachers, Curriculum, Productivity, Work Ethic, Educational Resources, Regular and Special Education Relationship, Individualized Instruction, Independent Living

المؤلفون: Parenti, I., Lehalle, D., Nava, C., Torti, E., Leitão, E., Person, R., Mizuguchi, T., Matsumoto, N., Kato, M., Nakamura, K., de Man, S. A., Cope, H., Shashi, V., Friedman, J., Joset, P., Steindl, K., Rauch, A., Muffels, I., van Hasselt, P. M., Petit, Florence, Smol, T., Le Guyader, G., Bilan, F., Sorlin, A., Vitobello, A., Philippe, C., van de Laar, I. M. B. H., van Slegtenhorst, M. A., Campeau, P. M., Au, P. Y. B., Nakashima, M., Saitsu, H., Yamamoto, T., Nomura, Y., Louie, R. J., Lyons, M. J., Dobson, A., Plomp, A. S., Motazacker, M. M., Kaiser, F. J., Timberlake, A. T., Fuchs, S. A., Depienne, C., Mignot, C.

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), ANR-10-IAHU-0006,IHU-A-ICM,Institut de Neurosciences Translationnelles de Paris(2010)

المصدر: ISSN: 0340-6717.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/33944996; PUBMED: 33944996

الاتاحة: https://hal.univ-lille.fr/hal-04219762
https://hal.univ-lille.fr/hal-04219762v1/document
https://hal.univ-lille.fr/hal-04219762v1/file/s00439-021-02283-2.pdf
https://doi.org/10.1007/s00439-021-02283-2

المؤلفون: Timberlake, Andrew T.

المساهمون: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Pontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San Ignacio, Zarante, Ignacio

مصطلحات موضوعية: Rna Splicing Factor, Sf3B2 Protein, Human, Adolescent, Adult, Animal, Child, Exome, Female, Genetic Association Study, Genetics, Goldenhar Syndrome, Growth, Development And Aging, Haploinsufficiency, Infant, Male, Mutation, Neural Crest, Pathology

وصف الملف: PDF; application/pdf

Relation: 11; Nature Communications; 12; https://www.nature.com/articles/s41467-021-24852-9; http://hdl.handle.net/10554/60077; https://doi.org/10.1038/s41467-021-24852-9; instname:Pontificia Universidad Javeriana; reponame:Repositorio Institucional - Pontificia Universidad Javeriana; repourl:https://repository.javeriana.edu.co

الاتاحة: http://hdl.handle.net/10554/60077
https://www.nature.com/articles/s41467-021-24852-9
https://doi.org/10.1038/s41467-021-24852-9

المؤلفون: Rohrich, Rod J., Timberlake, Andrew T., Afrooz, Paul N.

المصدر: Plastic & Reconstructive Surgery ; volume 148, issue 5S, page 117S-120S ; ISSN 0032-1052

الاتاحة: http://dx.doi.org/10.1097/01.prs.0000794928.23166.06
https://journals.lww.com/10.1097/01.prs.0000794928.23166.06

المؤلفون: Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J, Atique, Rodrigo, Bertola, Débora R, Cunningham, Michael L, Gustafson, Jonas A, Johnson, David, Morton, Jenny E V, Passos-Bueno, Maria Rita, Timberlake, Andrew T, Lifton, Richard P, Wall, Steven A, Twigg, Stephen R F, Maire, Pascal, Wilkie, Andrew O M

المساهمون: VTCT Foundation, Wellcome, NIHR UK Rare Genetic Disease Research Consortium, the MRC through the WIMM Strategic Alliance, AFM, NIH/NIDCR, FAPESP/CEPID, NIHR Oxford Biomedical Research Centre

المصدر: Journal of Medical Genetics ; volume 59, issue 2, page 165-169 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2020-107459
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2020-107459