Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

Por Traylor, R.N., Dobyns, W.B., Rosenfeld, J.A., Wheeler, P., Spence, J.E., Bandholz, A.M., Bawle, E.V., Carmany, E.P., Powell, C.M., Hudson, B., Schultz, R.A., Shaffer, L.G., Ballif, B.C.
Publicado em 2012

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Por Rosenfeld, J.A., Kim, K.H., Angle, B., Troxell, R., Gorski, J.L., Westemeyer, M., Frydman, M., Senturias, Y., Earl, D., Torchia, B., Schultz, R.A., Ellison, J.W., Tsuchiya, K., Zimmerman, S., Smolarek, T.A., Ballif, B.C., Shaffer, L.G.
Publicado em 2013

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Por Probst, F. J., James, R. A., Burrage, L. C., Rosenfeld, J. A., Bohan, T. P., Melver, C. H. Ward, Magoulas, P., Austin, E., Franklin, A. I. A., Azamian, M., Xia, F., Patel, A., Bi, W., Bacino, C., Belmont, J.W., Ware, S. M., Shaw, C., Cheung, S.W., Lalani, S. R.
Publicado no Orphanet J Rare Dis (2015)

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Por Zak, J, Vives, V, Szumska, D, Vernet, A, Schneider, J E, Miller, P, Slee, E A, Joss, S, Lacassie, Y, Chen, E, Escobar, L F, Tucker, M, Aylsworth, A S, Dubbs, H A, Collins, A T, Andrieux, J, Dieux-Coeslier, A, Haberlandt, E, Kotzot, D, Scott, D A, Parker, M J, Zakaria, Z, Choy, Y S, Wieczorek, D, Innes, A M, Jun, K R, Zinner, S, Prin, F, Lygate, C A, Pretorius, P, Rosenfeld, J A, Mohun, T J, Lu, X
Publicado no Cell Death Differ (2016)

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Por Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, van der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A
Publicado no Mol Psychiatry (2017)

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

Por Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.
Publicado em 2011

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Por Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M
Publicado no Mol Psychiatry (2018)