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

door Taylor, P, Wu, S, Nelson, SF, Cohn, DH, Krakow, D
Gepubliceerd in 2012

Mutations in FLNB cause boomerang dysplasia

door Bicknell, L, Morgan, T, Bonafe, L, Wessels, M, Bialer, M, Willems, P, Cohn, D, Krakow, D, Robertson, S
Gepubliceerd in 2005

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

door Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
Gepubliceerd in Clin Genet (2017)

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

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

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

door 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.
Gepubliceerd in 2009

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

door 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
Gepubliceerd in 1999

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

door 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
Gepubliceerd in Genet Med (2015)

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

door 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
Gepubliceerd in 2004

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

door 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.
Gepubliceerd in 2011