BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whos...

由 Schubert, E L, Lee, M K, Mefford, H C, Argonza, R H, Morrow, J E, Hull, J, Dann, J L, King, M C
出版 1997

Evidence for a BRCA1 founder mutation in families of West African ancestry.

由 Mefford, H C, Baumbach, L, Panguluri, R C, Whitfield-Broome, C, Szabo, C, Smith, S, King, M C, Dunston, G, Stoppa-Lyonnet, D, Arena, F
出版 1999

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

由 Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S J L, Eichler, E E, Vermeesch, J R
出版 2009

De novo SCN1A mutations in migrating partial seizures of infancy

由 Carranza Rojo, D., Hamiwka, L., McMahon, J.M., Dibbens, L.M., Arsov, T., Suls, A., Stödberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J.L., Yendle, S.C., Berkovic, S.F., Bienvenu, T., De Jonghe, P., Thorburn, D.R., Mulley, J.C., Mefford, H.C., Scheffer, I.E.
出版 2011

Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome

由 van Bon, B.W.M., Mefford, H.C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W.M., Innis, J.W., de Ravel, T.J.L., Mercer, C.L., Fichera, M., Stewart, H., Connell, L. E., Õunap, K., Lachlan, K., Castle, B., Van der Aa, N., van Ravenswaaij, C., Nobrega, M.A., Serra-Juhé, C, Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J.P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Kurg, A., Willatt, L., Knight, S.J.L., Vermeesch, J.R., Romano, C., Barber, J.C., Mortier, G., Pérez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T., de Vries, B.B.A.
出版 2009