Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

por Taylor, P, Wu, S, Nelson, SF, Cohn, DH, Krakow, D
Publicado 2012

Mutations in FLNB cause boomerang dysplasia

por Bicknell, L, Morgan, T, Bonafe, L, Wessels, M, Bialer, M, Willems, P, Cohn, D, Krakow, D, Robertson, S
Publicado 2005

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

por Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
Publicado en Clin Genet (2017)

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

por Krakow, D, Reinker, K, Powell, B, Cantor, R, Priore, M A, Garber, A, Lachman, R S, Rimoin, D L, Cohn, D H
Publicado 1998

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

por Winer, N., Kyndt, F., Paumier, A., David, A., Isidor, B., Quentin, M., Jouitteau, B., Sanyas, P., Philippe, H. J., Hernandez, A., Krakow, D., Le Caignec, C.
Publicado 2009

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

por Colige, A, Sieron, A L, Li, S W, Schwarze, U, Petty, E, Wertelecki, W, Wilcox, W, Krakow, D, Cohn, D H, Reardon, W, Byers, P H, Lapière, C M, Prockop, D J, Nusgens, B V
Publicado 1999

Delivery by Cesarean Section is not Associated With Decreased at-Birth Fracture Rates in Osteogenesis Imperfecta

por Bellur, S, Jain, M, Cuthbertson, D, Krakow, D, Shapiro, JR, Steiner, RD, Smith, PA, Bober, MB, Hart, T, Krischer, J, Mullins, M, Byers, PH, Pepin, M, Durigova, M, Glorieux, FH, Rauch, F, Sutton, VR, Lee, B, Nagamani, SC
Publicado en Genet Med (2015)

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

por Steiner, C, Ehtesham, N, Taylor, K, Sebald, E, Cantor, R, King, L, Guo, X, Hang, T, Hu, M, Cui, J, Friedman, B, Norato, D, Allanson, J, Honeywell, C, Mettler, G, Field, F, Lachman, R, Cohn, D, Krakow, D
Publicado 2004

Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood

por Klaassens, M., Reinstein, E., Hilhorst-Hofstee, Y., Schrander, J.J.P., Malfait, F., Staal, H., ten Have, L.C., Blaauw, J., Roggeveen, H.C.J., Krakow, D., De Paepe, A., van Steensel, M.A.M., Pals, G., Graham, J. M., Schrander-Stumpel, C.T.R.M.
Publicado 2011