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  • 2019

    Genotype correlates with clinical severity in PIK3CA-Associated lymphatic malformations

    Zenner, K., Cheng, C. V., Jensen, D. M., Timms, A. E., Shivaram, G., Bly, R., Ganti, S., Whitlock, K. B., Dobyns, W. B., Perkins, J. & Bennett, J. T., Oct 17 2019, In: JCI Insight. 4, 21, e129884.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    36 Scopus citations
  • Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

    Vandervore, L. V., Schot, R., Kasteleijn, E., Oegema, R., Stouffs, K., Gheldof, A., Grochowska, M. M., Van Der Sterre, M. L. T., Van Unen, L. M. A., Wilke, M., Elfferich, P., Van Der Spek, P. J., Heijsman, D., Grandone, A., Demmers, J. A. A., Dekkers, D. H. W., Slotman, J. A., Kremers, G. J., Schaaf, G. J., Masius, R. G., & 12 othersVan Essen, A. J., Rump, P., Van Haeringen, A., Peeters, E., Altunoglu, U., Kalayci, T., Poot, R. A., Dobyns, W. B., Bahi-Buisson, N., Verheijen, F. W., Jansen, A. C. & Mancini, G. M. S., Apr 1 2019, In: Brain. 142, 4, p. 867-884 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Scopus citations
  • Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P., & 32 othersDemmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Bertoli-Avella, A., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M. & Mancini, G. M. S., Oct 3 2019, In: American Journal of Human Genetics. 105, 4, p. 689-705 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    38 Scopus citations
  • Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

    Vabres, P., Sorlin, A., Kholmanskikh, S. S., Demeer, B., St-Onge, J., Duffourd, Y., Kuentz, P., Courcet, J. B., Carmignac, V., Garret, P., Bessis, D., Boute, O., Bron, A., Captier, G., Carmi, E., Devauchelle, B., Geneviève, D., Gondry-Jouet, C., Guibaud, L., Lafon, A., & 11 othersMathieu-Dramard, M., Thevenon, J., Dobyns, W. B., Bernard, G., Polubothu, S., Faravelli, F., Kinsler, V. A., Thauvin, C., Faivre, L., Ross, M. E. & Rivière, J. B., Oct 1 2019, In: Nature Genetics. 51, 10, p. 1438-1441 4 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    26 Scopus citations
  • Redefining the Etiologic Landscape of Cerebellar Malformations

    Aldinger, K. A., Timms, A. E., Thomson, Z., Mirzaa, G. M., Bennett, J. T., Rosenberg, A. B., Roco, C. M., Hirano, M., Abidi, F., Haldipur, P., Cheng, C. V., Collins, S., Park, K., Zeiger, J., Overmann, L. M., Alkuraya, F. S., Biesecker, L. G., Braddock, S. R., Cathey, S., Cho, M. T., & 26 othersChung, B. H. Y., Everman, D. B., Zarate, Y. A., Jones, J. R., Schwartz, C. E., Goldstein, A., Hopkin, R. J., Krantz, I. D., Ladda, R. L., Leppig, K. A., McGillivray, B. C., Sell, S., Wusik, K., Gleeson, J. G., Nickerson, D. A., Bamshad, M. J., Gerrelli, D., Lisgo, S. N., Seelig, G., Ishak, G. E., Barkovich, A. J., Curry, C. J., Glass, I. A., Millen, K. J., Doherty, D. & Dobyns, W. B., Sep 5 2019, In: American Journal of Human Genetics. 105, 3, p. 606-615 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    58 Scopus citations
  • SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

    Marzin, P., Rondeau, S., Aldinger, K. A., Alessandri, J. L., Isidor, B., Heron, D., Keren, B., Dobyns, W. B. & Cormier-Daire, V., Dec 1 2019, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 4, p. 509-518 10 p.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    Ng, B. G., Sosicka, P., Agadi, S., Almannai, M., Bacino, C. A., Barone, R., Botto, L. D., Burton, J. E., Carlston, C., Chung, B. H. Y., Cohen, J. S., Coman, D., Dipple, K. M., Dorrani, N., Dobyns, W. B., Elias, A. F., Epstein, L., Gahl, W. A., Garozzo, D., Hammer, T. B., & 49 othersHaven, J., Héron, D., Herzog, M., Hoganson, G. E., Hunter, J. M., Jain, M., Juusola, J., Lakhani, S., Lee, H., Lee, J., Lewis, K., Longo, N., Lourenço, C. M., Mak, C. C. Y., McKnight, D., Mendelsohn, B. A., Mignot, C., Mirzaa, G., Mitchell, W., Muhle, H., Nelson, S. F., Olczak, M., Palmer, C. G. S., Partikian, A., Patterson, M. C., Pierson, T. M., Quinonez, S. C., Regan, B. M., Ross, M. E., Guillen Sacoto, M. J., Scaglia, F., Scheffer, I. E., Segal, D., Singhal, N. S., Striano, P., Sturiale, L., Symonds, J. D., Tang, S., Vilain, E., Willis, M., Wolfe, L. A., Yang, H., Yano, S., Powis, Z., Suchy, S. F., Rosenfeld, J. A., Edmondson, A. C., Grunewald, S. & Freeze, H. H., Jul 2019, In: Human mutation. 40, 7, p. 908-925 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    54 Scopus citations
  • Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

    Karasozen, Y., Osbun, J. W., Parada, C. A., Busald, T., Tatman, P., Gonzalez-Cuyar, L. F., Hale, C. J., Alcantara, D., O'Driscoll, M., Dobyns, W. B., Murray, M., Kim, L. J., Byers, P., Dorschner, M. O. & Ferreira, M., May 2 2019, In: American Journal of Human Genetics. 104, 5, p. 968-976 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    24 Scopus citations
  • Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

    Haldipur, P., Aldinger, K. A., Bernardo, S., Deng, M., Timms, A. E., Overman, L. M., Winter, C., Lisgo, S. N., Razavi, F., Silvestri, E., Manganaro, L., Adle-Biasette, H., Guilmiot, F., Russo, R., Kidron, D., Hof, P. R., Gerrelli, D., Lindsay, S. J., Dobyns, W. B., Glass, I. A., & 2 othersAlexandre, P. & Millen, K. J., Oct 25 2019, In: Science. 366, 6464, p. 454-460 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    78 Scopus citations
  • Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

    Oegema, R., Barkovich, A. J., Mancini, G. M. S., Guerrini, R. & Dobyns, W. B., Oct 1 2019, In: Neurology. 93, 14, p. E1360-E1373

    Research output: Contribution to journalArticlepeer-review

    Open Access
    25 Scopus citations
  • 2018

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    University of Washington Center for Mendelian Genomics, Nov 1 2018, In: Genetics in Medicine. 20, 11, p. 1354-1364 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    93 Scopus citations
  • Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

    Ruaud, L., Rice, G. I., Cabrol, C., Piard, J., Rodero, M., van Eyk, L., Boucher-Brischoux, E., de Noordhout, A. M., Maré, R., Scalais, E., Pauly, F., Debray, F. G., Dobyns, W., Uggenti, C., Park, J. W., Hur, S., Livingston, J. H., Crow, Y. J. & Van Maldergem, L., Aug 2018, In: Human mutation. 39, 8, p. 1076-1080 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain

    Adams Waldorf, K. M., Nelson, B. R., Stencel-Baerenwald, J. E., Studholme, C., Kapur, R. P., Armistead, B., Walker, C. L., Merillat, S., Vornhagen, J., Tisoncik-Go, J., Baldessari, A., Coleman, M., Dighe, M. K., Shaw, D. W. W., Roby, J. A., Santana-Ufret, V., Boldenow, E., Li, J., Gao, X., Davis, M. A., & 22 othersSwanstrom, J. A., Jensen, K., Widman, D. G., Baric, R. S., Medwid, J. T., Hanley, K. A., Ogle, J., Gough, G. M., Lee, W., English, C., Durning, W. M. I., Thiel, J., Gatenby, C., Dewey, E. C., Fairgrieve, M. R., Hodge, R. D., Grant, R. F., Kuller, L., Dobyns, W. B., Hevner, R. F., Gale, M. & Rajagopal, L., Mar 1 2018, In: Nature Medicine. 24, 3, p. 368-374 7 p.

    Research output: Contribution to journalArticlepeer-review

    98 Scopus citations
  • De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

    for the Epi4K Consortium & Epilepsy Phenome/Genome Project, May 2018, In: PLoS genetics. 14, 5, e1007281.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    41 Scopus citations
  • De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

    Fry, A. E., Fawcett, K. A., Zelnik, N., Yuan, H., Thompson, B. A. N., Shemer-Meiri, L., Cushion, T. D., Mugalaasi, H., Sims, D., Stoodley, N., Chung, S. K., Rees, M. I., Patel, C. V., Brueton, L. A., Layet, V., Giuliano, F., Kerr, M. P., Banne, E., Meiner, V., Lerman-Sagie, T., & 21 othersHelbig, K. L., Kofman, L. H., Knight, K. M., Chen, W., Kannan, V., Hu, C., Kusumoto, H., Zhang, J., Swanger, S. A., Shaulsky, G. H., Mirzaa, G. M., Muir, A. M., Mefford, H. C., Dobyns, W. B., Mackenzie, A. B., Mullins, J. G. L., Lemke, J. R., Bahi-Buisson, N., Traynelis, S. F., Iago, H. F. & Pilz, D. T., Mar 1 2018, In: Brain. 141, 3, p. 698-712 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    67 Scopus citations
  • Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription

    El-Saafin, F., Curry, C., Ye, T., Garnier, J. M., Kolb-Cheynel, I., Stierle, M., Downer, N. L., Dixon, M. P., Negroni, L., Berger, I., Thomas, T., Voss, A. K., Dobyns, W., Devys, D. & Tora, L., Jun 15 2018, In: Human molecular genetics. 27, 12, p. 2171-2186 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    15 Scopus citations
  • MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

    University of Washington Center for Mendelian Genomics & Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Dec 6 2018, In: American Journal of Human Genetics. 103, 6, p. 1009-1021 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    45 Scopus citations
  • Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

    Tripathy, R., Leca, I., van Dijk, T., Weiss, J., van Bon, B. W., Sergaki, M. C., Gstrein, T., Breuss, M., Tian, G., Bahi-Buisson, N., Paciorkowski, A. R., Pagnamenta, A. T., Wenninger-Weinzierl, A., Martinez-Reza, M. F., Landler, L., Lise, S., Taylor, J. C., Terrone, G., Vitiello, G., Del Giudice, E., & 21 othersBrunetti-Pierri, N., D'Amico, A., Reymond, A., Voisin, N., Bernstein, J. A., Farrelly, E., Kini, U., Leonard, T. A., Valence, S., Burglen, L., Armstrong, L., Hiatt, S. M., Cooper, G. M., Aldinger, K. A., Dobyns, W. B., Mirzaa, G., Pierson, T. M., Baas, F., Chelly, J., Cowan, N. J. & Keays, D. A., Dec 19 2018, In: Neuron. 100, 6, p. 1354-1368.e5

    Research output: Contribution to journalArticlepeer-review

    Open Access
    35 Scopus citations
  • NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

    Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., Boppudi, S., Bridges, C. J., Cho, M. T., Dobyns, W. B., Donnai, D., Douglas, J., Earl, D. L., Edwards, T. J., Faivre, L., Fregeau, B., & 29 othersGenevieve, D., Gérard, M., Gatinois, V., Holder-Espinasse, M., Huth, S. F., Izumi, K., Kerr, B., Lacaze, E., Lakeman, P., Mahida, S., Mirzaa, G. M., Morgan, S. M., Nowak, C., Peeters, H., Petit, F., Pilz, D. T., Puechberty, J., Reinstein, E., Rivière, J. B., Santani, A. B., Schneider, A., Sherr, E. H., Smith-Hicks, C., Wieland, I., Zackai, E., Zhao, X., Gronostajski, R. M., Zenker, M. & Richards, L. J., Nov 1 2018, In: American Journal of Human Genetics. 103, 5, p. 752-768 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Scopus citations
  • PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia

    Liu, W. A., Chen, S., Li, Z., Lee, C. H., Mirzaa, G., Dobyns, W. B., Ross, M. E., Zhang, J. & Shi, S. H., Jun 1 2018, In: Genes and Development. 32, 11-12, p. 763-780 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    48 Scopus citations
  • Primary brain calcification: an international study reporting novel variants and associated phenotypes

    The French PFBC study group, Oct 1 2018, In: European Journal of Human Genetics. 26, 10, p. 1462-1477 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    45 Scopus citations
  • Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

    Steiner, J. E., McCoy, G. N., Hess, C. P., Dobyns, W. B., Metry, D. W., Drolet, B. A., Maheshwari, M. & Siegel, D. H., Jan 2018, In: American Journal of Medical Genetics, Part A. 176, 1, p. 48-55 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

    Brock, S., Stouffs, K., Scalais, E., D’Hooghe, M., Keymolen, K., Guerrini, R., Dobyns, W. B., Di Donato, N. & Jansen, A. C., Aug 1 2018, In: European Journal of Human Genetics. 26, 8, p. 1132-1142 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Scopus citations
  • Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

    Leibovitz, Z., Mandel, H., Falik-Zaccai, T. C., Ben Harouch, S., Savitzki, D., Krajden-Haratz, K., Gindes, L., Tamarkin, M., Lev, D., Dobyns, W. B. & Lerman-Sagie, T., May 2018, In: European Journal of Paediatric Neurology. 22, 3, p. 525-531 7 p.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • Why west? Comparisons of clinical, genetic and molecular features of infants with and without spasms

    Berg, A. T., Chakravorty, S., Koh, S., Grinspan, Z. M., Shellhaas, R. A., Saneto, R. P., Wirrell, E. C., Coryell, J., Chu, C. J., Mytinger, J. R., Gaillard, W. D., Valencia, I., Knupp, K. G., Loddenkemper, T., Sullivan, J. E., Poduri, A., Millichap, J. J., Keator, C., Wusthoff, C., Ryan, N., & 2 othersDobyns, W. B. & Hegde, M., Mar 2018, In: PloS one. 13, 3, e0193599.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Scopus citations
  • 2017

    Abstracts from Hydrocephalus 2016

    Adam, A., Robison, J., Lu, J., Jose, R., Badran, N., Vivas-Buitrago, T., Rigamonti, D., Sattar, A., Omoush, O., Hammad, M., Dawood, M., Maghaslah, M., Belcher, T., Carson, K., Hoffberger, J., Jusué Torres, I., Foley, S., Yasar, S., Thai, Q. A., Wemmer, J., & 235 othersKlinge, P., Al-Mutawa, L., Al-Ghamdi, H., Carson, K. A., Asgari, M., de Zélicourt, D., Kurtcuoglu, V., Garnotel, S., Salmon, S., Balédent, O., Lokossou, A., Page, G., Balardy, L., Czosnyka, Z., Payoux, P., Schmidt, E. A., Zitoun, M., Sevestre, M. A., Alperin, N., Baudracco, I., Craven, C., Matloob, S., Thompson, S., Haylock Vize, P., Thorne, L., Watkins, L. D., Toma, A. K., Bechter, K., Pong, A. C., Jugé, L., Bilston, L. E., Cheng, S., Bradley, W., Hakim, F., Ramón, J. F., Cárdenas, M. F., Davidson, J. S., García, C., González, D., Bermúdez, S., Useche, N., Mejía, J. A., Mayorga, P., Cruz, F., Martinez, C., Matiz, M. C., Vallejo, M., Ghotme, K., Soto, H. A., Riveros, D., Buitrago, A., Mora, M., Murcia, L., Bermudez, S., Cohen, D., Dasgupta, D., Curtis, C., Domínguez, L., Remolina, A. J., Grijalba, M. A., Whitehouse, K. J., Edwards, R. J., Eleftheriou, A., Lundin, F., Fountas, K. N., Kapsalaki, E. Z., Smisson, H. F., Robinson, J. S., Fritsch, M. J., Arouk, W., Garzon, M., Kang, M., Sandhu, K., Baghawatti, D., Aquilina, K., James, G., Thompson, D., Gehlen, M., Schmid Daners, M., Eklund, A., Malm, J., Gomez, D., Guerra, M., Jara, M., Flores, M., Vío, K., Moreno, I., Rodríguez, S., Ortega, E., Rodríguez, E. M., McAllister, J. P., Guerra, M. M., Morales, D. M., Sival, D., Jimenez, A., Limbrick, D. D., Ishikawa, M., Yamada, S., Yamamoto, K., Junkkari, A., Häyrinen, A., Rauramaa, T., Sintonen, H., Nerg, O., Koivisto, A. M., Roine, R. P., Viinamäki, H., Soininen, H., Luikku, A., Jääskeläinen, J. E., Leinonen, V., Kehler, U., Lilja-Lund, O., Kockum, K., Larsson, E. M., Riklund, K., Söderström, L., Hellström, P., Laurell, K., Kojoukhova, M., Sutela, A., Vanninen, R., Vanha, K. I., Timonen, M., Rummukainen, J., Korhonen, V., Helisalmi, S., Solje, E., Remes, A. M., Huovinen, J., Paananen, J., Hiltunen, M., Kurki, M., Martin, B., Loth, F., Luciano, M., Luikku, A. J., Hall, A., Herukka, S. K., Mattila, J., Lötjönen, J., Alafuzoff, I., Jurjević, I., Miyajima, M., Nakajima, M., Murai, H., Shin, T., Kawaguchi, D., Akiba, C., Ogino, I., Karagiozov, K., Arai, H., Reis, R. C., Teixeira, M. J., Valêncio, C. G., da Vigua, D., Almeida-Lopes, L., Mancini, M. W., Pinto, F. C. G., Maykot, R. H., Calia, G., Tornai, J., Silvestre, S. S. S., Mendes, G., Sousa, V., Bezerra, B., Dutra, P., Modesto, P., Oliveira, M. F., Petitto, C. E., Pulhorn, H., Chandran, A., McMahon, C., Rao, A. S., Jumaly, M., Solomon, D., Moghekar, A., Relkin, N., Hamilton, M., Katzen, H., Williams, M., Bach, T., Zuspan, S., Holubkov, R., Rigamonti, A., Clemens, G., Sharkey, P., Sanyal, A., Sankey, E., Rigamonti, K., Naqvi, S., Hung, A., Schmidt, E., Ory-Magne, F., Gantet, P., Guenego, A., Januel, A. C., Tall, P., Fabre, N., Mahieu, L., Cognard, C., Gray, L., Buttner-Ennever, J. A., Takagi, K., Onouchi, K., Thompson, S. D., Thorne, L. D., Tully, H. M., Wenger, T. L., Kukull, W. A., Doherty, D., Dobyns, W. B., Moran, D., Vakili, S., Patel, M. A., Elder, B., Goodwin, C. R., Crawford, J. A., Pletnikov, M. V., Xu, J., Blitz, A., Herzka, D. A., Guerrero-Cazares, H., Quiñones-Hinojosa, A., Mori, S., Saavedra, P., Treviño, H., Maitani, K., Ziai, W. C., Eslami, V., Nekoovaght-Tak, S., Dlugash, R., Yenokyan, G., McBee, N. & Hanley, D. F., Jun 7 2017, In: Fluids and Barriers of the CNS. 14, p. 15 1 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Lardelli, R. M., Schaffer, A. E., Eggens, V. R. C., Zaki, M. S., Grainger, S., Sathe, S., Van Nostrand, E. L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J. L., Heckman, L. D., Rosti, R. O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A., & 39 othersShaw, T. L., Markmiller, S., Marin-Valencia, I., Davies, J. H., De Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M. L., Warwick, L., Chitayat, D., Blaser, S., Ça Layan, A. O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H. T., Kibaek, M., Aldinger, K. A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W. B., Chi, N. C., Traver, D., Spaccini, L., Bova, S. M., Gabriel, S. B., Gunel, M., Valente, E. M., Nassogne, M. C., Bennett, E. J., Yeo, G. W., Baas, F., Lykke-Andersen, J. & Gleeson, J. G., Mar 1 2017, In: Nature Genetics. 49, 3, p. 457-464 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    62 Scopus citations
  • Comparison of brain MRI findings with language and motor function in the dystroglycanopathies

    Brun, B. N., Mockler, S. R. H., Laubscher, K. M., Stephan, C. M., Wallace, A. M., Collison, J. A., Zimmerman, M. B., Dobyns, W. B. & Mathews, K. D., Feb 14 2017, In: Neurology. 88, 7, p. 623-629 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • Delineating SPTAN1 associated phenotypes: From isolated epilepsy to encephalopathy with progressive brain atrophy

    Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., Van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., & 24 othersKorenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Lemke, J. R., Kutsche, K., Battaglia, D. & Guerrini, R., Sep 1 2017, In: Brain. 140, 9, p. 2322-2336 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    61 Scopus citations
  • Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22

    Byers, H. M., Adam, M. P., LaCroix, A., Leary, S. E. S., Cole, B., Dobyns, W. B. & Mefford, H. C., Jan 1 2017, In: American Journal of Medical Genetics, Part A. 173, 1, p. 245-249 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Early-life epilepsies and the emerging role of genetic testing

    Berg, A. T., Coryell, J., Saneto, R. P., Grinspan, Z. M., Alexander, J. J., Kekis, M., Sullivan, J. E., Wirrell, E. C., Shellhaas, R. A., Mytinger, J. R., Gaillard, W. D., Kossoff, E. H., Valencia, I., Knupp, K. G., Wusthoff, C., Keator, C., Dobyns, W. B., Ryan, N., Loddenkemper, T., Chu, C. J., & 2 othersNovotny, E. J. & Koh, S., Sep 2017, In: JAMA Pediatrics. 171, 9, p. 863-871 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    115 Scopus citations
  • GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    Platzer, K., Yuan, H., Schütz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H. O., Helbig, K. L., Tang, S., Willing, M. C., Tinkle, B. T., Adams, D. J., Depienne, C., Keren, B., Mignot, C., Frengen, E., Strømme, P., Biskup, S., Döcker, D., & 55 othersStrom, T. M., Mefford, H. C., Myers, C. T., Muir, A. M., LaCroix, A., Sadleir, L., Scheffer, I. E., Brilstra, E., van Haelst, M. M., van der Smagt, J. J., Bok, L. A., Møller, R. S., Jensen, U. B., Millichap, J. J., Berg, A. T., Goldberg, E. M., De Bie, I., Fox, S., Major, P., Jones, J. R., Zackai, E. H., Abou Jamra, R., Rolfs, A., Leventer, R. J., Lawson, J. A., Roscioli, T., Jansen, F. E., Ranza, E., Korff, C. M., Lehesjoki, A. E., Courage, C., Linnankivi, T., Smith, D. R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W. H., Tarnopolsky, M. A., Brady, L. I., Wolff, M., Dondit, L., Pedro, H. F., Parisotto, S. E., Jones, K. L., Patel, A. D., Franz, D. N., Vanzo, R., Marco, E., Ranells, J. D., Di Donato, N., Dobyns, W. B., Laube, B., Traynelis, S. F. & Lemke, J. R., Jul 1 2017, In: Journal of medical genetics. 54, 7, p. 460-470 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    171 Scopus citations
  • Human mutations in integrator complex subunits link transcriptome integrity to brain development

    Oegema, R., Baillat, D., Schot, R., van Unen, L. M., Brooks, A., Kia, S. K., Hoogeboom, A. J. M., Xia, Z., Li, W., Cesaroni, M., Lequin, M. H., van Slegtenhorst, M., Dobyns, W. B., de Coo, I. F. M., Verheijen, F. W., Kremer, A., van der Spek, P. J., Heijsman, D., Wagner, E. J., Fornerod, M., & 1 othersMancini, G. M. S., May 2017, In: PLoS genetics. 13, 5, e1006809.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    65 Scopus citations
  • Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

    De Mori, R., Romani, M., D'Arrigo, S., Zaki, M. S., Lorefice, E., Tardivo, S., Biagini, T., Stanley, V., Musaev, D., Fluss, J., Micalizzi, A., Nuovo, S., Illi, B., Chiapparini, L., Di Marcotullio, L., Issa, M. Y., Anello, D., Casella, A., Ginevrino, M., Leggins, A. S. N., & 10 othersRoosing, S., Alfonsi, R., Rosati, J., Schot, R., Mancini, G. M. S., Bertini, E., Dobyns, W. B., Mazza, T., Gleeson, J. G. & Valente, E. M., Oct 5 2017, In: American Journal of Human Genetics. 101, 4, p. 552-563 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    39 Scopus citations
  • Lissencephaly: Expanded imaging and clinical classification

    Di Donato, N., Chiari, S., Mirzaa, G. M., Aldinger, K., Parrini, E., Olds, C., Barkovich, A. J., Guerrini, R. & Dobyns, W. B., Jun 2017, In: American Journal of Medical Genetics, Part A. 173, 6, p. 1473-1488 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    102 Scopus citations
  • Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

    University of Washington Center for Mendelian Genomics, Jul 6 2017, In: American Journal of Human Genetics. 101, 1, p. 23-36 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    61 Scopus citations
  • Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Alcantara, D., Timms, A. E., Gripp, K., Baker, L., Park, K., Collins, S., Cheng, C., Stewart, F., Mehta, S. G., Saggar, A., Sztriha, L., Zombor, M., Caluseriu, O., Mesterman, R., Van Allen, M. I., Jacquinet, A., Ygberg, S., Bernstein, J. A., Wenger, A. M., Guturu, H., & 13 othersBejerano, G., Gomez-Ospina, N., Lehman, A., Alfei, E., Pantaleoni, C., Conti, V., Guerrini, R., Moog, U., Graham, J. M., Hevner, R., Dobyns, W. B., O'Driscoll, M. & Mirzaa, G. M., Oct 1 2017, In: Brain. 140, 10, p. 2610-2622 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    90 Scopus citations
  • Neuroimaging findings in Mowat-Wilson syndrome: A study of 54 patients

    Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Baldo, C., Bayat, A., Belligni, E., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., Devriendt, K., Dinulos, M. B., Djuric, O., & 38 othersEpifanio, R., Faravelli, F., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Lacombe, D., Maggi, M., Malbora, B., Mammi, I., Moutton, S., Møller, R., Muschke, P., Napoli, M., Pantaleoni, C., Pascarella, R., Pellicciari, A., Poch-Olive, M. L., Raviglione, F., Rivieri, F., Russo, C., Savasta, S., Scarano, G., Selicorni, A., Silengo, M., Sorge, G., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zollino, M., Dobyns, W. B. & Paciorkowski, A. R., Jun 1 2017, In: Genetics in Medicine. 19, 6, p. 691-700 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    42 Scopus citations
  • Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms

    Haldipur, P., Dang, D., Aldinger, K. A., Janson, O. K., Guimiot, F., Adle-Biasette, H., Dobyns, W. B., Siebert, J. R., Russo, R. & Millen, K. J., Jan 16 2017, In: eLife. 6, e20898.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Scopus citations
  • 2016

    Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage

    Tully, H. M., Wenger, T. L., Kukull, W. A., Doherty, D. & Dobyns, W. B., 2016, In: Neurosurgical focus. 41, 5, E5.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair

    Gripp, K. W., Aldinger, K. A., Bennett, J. T., Baker, L., Tusi, J., Powell-Hamilton, N., Stabley, D., Sol-Church, K., Timms, A. E. & Dobyns, W. B., Sep 1 2016, In: American Journal of Medical Genetics, Part A. 170, 9, p. 2237-2247 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    97 Scopus citations
  • A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

    Twigg, S. R. F., Hufnagel, R. B., Miller, K. A., Zhou, Y., McGowan, S. J., Taylor, J., Craft, J., Taylor, J. C., Santoro, S. L., Huang, T., Hopkin, R. J., Brady, A. F., Clayton-Smith, J., Clericuzio, C. L., Grange, D. K., Groesser, L., Hafner, C., Horn, D., Temple, I. K., Dobyns, W. B., & 3 othersCurry, C. J., Jones, M. C. & Wilkie, A. O. M., Jun 2 2016, In: American Journal of Human Genetics. 98, 6, p. 1256-1265 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    63 Scopus citations
  • Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism

    Mirzaa, G. M., Campbell, C. D., Solovieff, N., Goold, C. P., Jansen, L. A., Menon, S., Timms, A. E., Conti, V., Biag, J. D., Olds, C., Boyle, E. A., Collins, S., Ishak, G., Poliachik, S. L., Girisha, K. M., Yeung, K. S., Chung, B. H. Y., Rahikkala, E., Gunter, S. A., McDaniel, S. S., & 25 othersMacmurdo, C. F., Bernstein, J. A., Martin, B., Leary, R. J., Mahan, S., Liu, S., Weaver, M., Dorschner, M. O., Jhangiani, S., Muzny, D. M., Boerwinkle, E., Gibbs, R. A., Lupski, J. R., Shendure, J., Saneto, R. P., Novotny, E. J., Wilson, C. J., Sellers, W. R., Morrissey, M. P., Hevner, R. F., Ojemann, J. G., Guerrini, R., Murphy, L. O., Winckler, W. & Dobyns, W. B., Jul 2016, In: JAMA Neurology. 73, 7, p. 836-845 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    211 Scopus citations
  • Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum

    Gobius, I., Morcom, L., Suárez, R., Bunt, J., Bukshpun, P., Reardon, W., Dobyns, W. B., Rubenstein, J. L. R., Barkovich, A. J., Sherr, E. H. & Richards, L. J., Oct 11 2016, In: Cell reports. 17, 3, p. 735-747 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    57 Scopus citations
  • Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors

    Yang, J., Bassuk, A. G., Merl-Pham, J., Hsu, C. W., Colgan, D. F., Li, X., Au, K. S., Zhang, L., Smemo, S., Justus, S., Nagahama, Y., Grossbach, A. J., Howard, M. A., Kawasaki, H., Feldstein, N. A., Dobyns, W. B., Northrup, H., Hauck, S. M., Ueffing, M., Mahajan, V. B., & 1 othersTsang, S. H., Oct 1 2016, In: Human molecular genetics. 25, 19, p. 4201-4210 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate

    Adams Waldorf, K. M., Stencel-Baerenwald, J. E., Kapur, R. P., Studholme, C., Boldenow, E., Vornhagen, J., Baldessari, A., Dighe, M. K., Thiel, J., Merillat, S., Armistead, B., Tisoncik-Go, J., Green, R. R., Davis, M. A., Dewey, E. C., Fairgrieve, M. R., Gatenby, J. C., Richards, T., Garden, G. A., Diamond, M. S., & 12 othersJuul, S. E., Grant, R. F., Kuller, L., Shaw, D. W. W., Ogle, J., Gough, G. M., Lee, W., English, C., Hevner, R. F., Dobyns, W. B., Gale, M. & Rajagopal, L., Nov 1 2016, In: Nature Medicine. 22, 11, p. 1256-1259 4 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    208 Scopus citations
  • Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"

    Di Donato, N., Rump, A., Mirzaa, G. M., Alcantara, D., Oliver, A., Schrock, E., Dobyns, W. B. & O'Driscoll, M., Mar 1 2016, In: Human mutation. 37, 3, p. 242-245 4 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Scopus citations
  • Mandibulofacial dysostosis with microcephaly: Mutation and database update

    Care4Rare Canada Consortium, Feb 2016, In: Human mutation. 37, 2, p. 148-154 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    43 Scopus citations
  • Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

    Bennett, J. T., Tan, T. Y., Alcantara, D., Tétrault, M., Timms, A. E., Jensen, D., Collins, S., Nowaczyk, M. J. M., Lindhurst, M. J., Christensen, K. M., Braddock, S. R., Brandling-Bennett, H., Hennekam, R. C. M., Chung, B., Lehman, A., Su, J., Ng, S., Amor, D. J., Majewski, J., Biesecker, L. G., & 5 othersBoycott, K. M., Dobyns, W. B., O'Driscoll, M., Moog, U. & McDonell, L. M., Mar 3 2016, In: American Journal of Human Genetics. 98, 3, p. 579-587 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    69 Scopus citations
  • Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

    Di Donato, N., Jean, Y. Y., Maga, A. M., Krewson, B. D., Shupp, A. B., Avrutsky, M. I., Roy, A., Collins, S., Olds, C., Willert, R. A., Czaja, A. M., Johnson, R., Stover, J. A., Gottlieb, S., Bartholdi, D., Rauch, A., Goldstein, A., Boyd-Kyle, V., Aldinger, K. A., Mirzaa, G. M., & 8 othersNissen, A., Brigatti, K. W., Puffenberger, E. G., Millen, K. J., Strauss, K. A., Dobyns, W. B., Troy, C. M. & Jinks, R. N., Nov 3 2016, In: American Journal of Human Genetics. 99, 5, p. 1117-1129 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    45 Scopus citations