PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

Por Ahmad, N N, McDonald-McGinn, D M, Dixon, P, Zackai, E H, Tasman, W S
Publicado em 1996

Paternal transmission of congenital myotonic dystrophy.

Por Bergoffen, J, Kant, J, Sladky, J, McDonald-McGinn, D, Zackai, E H, Fischbeck, K H
Publicado em 1994

Secondary Immunologic Consequences in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

Por Zemble, R., Prak, E. Luning, McDonald, K., McDonald-McGinn, D., Zackai, E., Sullivan, K.
Publicado em 2010

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Por Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S
Publicado em 1993

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Por Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S
Publicado em 1993

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Por Callen, D F, Eyre, H, Lane, S, Shen, Y, Hansmann, I, Spinner, N, Zackai, E, McDonald-McGinn, D, Schuffenhauer, S, Wauters, J
Publicado em 1993

Cerebellar atrophy in a patient with velocardiofacial syndrome.

Por Lynch, D R, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Driscoll, D A, Whitaker, L A, Fischbeck, K H
Publicado em 1995

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Por Ahmad, N N, McDonald-McGinn, D M, Zackai, E H, Knowlton, R G, LaRossa, D, DiMascio, J, Prockop, D J
Publicado em 1993

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

Por Gong, W., Gottlieb, S., Collins, J., Blescia, A., Dietz, H., Goldmuntz, E., McDonald-McGinn, D., Zackai, E., Emanuel, B., Driscoll, D., Budarf, M.
Publicado em 2001

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome

Por Tang, S X, Moore, T M, Calkins, M E, Yi, J J, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Gur, R C, Gur, R E
Publicado no Transl Psychiatry (2017)

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Por Oldridge, M, Zackai, E H, McDonald-McGinn, D M, Iseki, S, Morriss-Kay, G M, Twigg, S R, Johnson, D, Wall, S A, Jiang, W, Theda, C, Jabs, E W, Wilkie, A O
Publicado em 1999

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated

Por Tang, S. X., Yi, J. J., Calkins, M. E., Whinna, D. A., Kohler, C. G., Souders, M. C., McDonald-McGinn, D. M., Zackai, E. H., Emanuel, B. S., Gur, R. C., Gur, R. E.
Publicado no Psychol Med (2013)

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

Por Gross, S. J., Stosic, M., McDonald‐McGinn, D. M., Bassett, A. S., Norvez, A., Dhamankar, R., Kobara, K., Kirkizlar, E., Zimmermann, B., Wayham, N., Babiarz, J. E., Ryan, A., Jinnett, K. N., Demko, Z., Benn, P.
Publicado no Ultrasound Obstet Gynecol (2016)

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Por Corsten-Janssen, N., Saitta, S.C., Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A., Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H., van Ravenswaaij-Arts, C.M.A.
Publicado em 2013

Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome

Por Schmitt, J.E., Yi, J.J., Roalf, D.R., Loevner, L.A., Ruparel, K., Whinna, D., Souders, M.C., McDonald-McGinn, D.M., Yodh, E., Vandekar, S., Zackai, E.H., Gur, R.C., Emanuel, B.S., Gur, R.E.
Publicado no AJNR Am J Neuroradiol (2014)

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

Por Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., Markowitz, R. I., Robin, N. H., Nwokoro, N., Mulvihill, J. J., Losken, H. W., Mulliken, J. B., Guttmacher, A. E., Wilroy, R. S., Clarke, L. A., Hollway, G., Adès, L. C., Haan, E. A., Mulley, J. C., Cohen, M. M., Bellus, G. A., Francomano, C. A., Moloney, D. M., Wall, S. A., Wilkie, A. O. M., Zackai, E. H.
Publicado em 1997

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Por Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M
Publicado em 2009

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Por Lopez-Rivera, E., Liu, Y.P., Verbitsky, M., Anderson, B.R., Capone, V.P., Otto, E.A., Yan, Z., Mitrotti, A., Martino, J., Steers, N.J., Fasel, D.A., Vukojevic, K., Deng, R., Racedo, S.E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G.S., Bodria, M., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Maiorana, M., Petrey, D.S., Honig, B., Lozanovski, V.J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., van Wijk, J.A.E., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D.M., Crowley, T.B., Zackai, E.H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J.M., Puri, P., Barton, D., Casolari, E., Furth, S.L., Warady, B.A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C.S., Drummond, I.A., D’Agati, V., Imamoto, A., Barasch, J.M., Hildebrandt, F., Kiryluk, K., Lifton, R.P., Morrow, B.E., Jeanpierre, C., Papaioannou, V.E., Ghiggeri, G.M., Gharavi, A.G., Katsanis, N., Sanna-Cherchi, S.
Publicado no N Engl J Med (2017)