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

מאת Taylor, P, Wu, S, Nelson, SF, Cohn, DH, Krakow, D
יצא לאור 2012

Mutations in FLNB cause boomerang dysplasia

מאת Bicknell, L, Morgan, T, Bonafe, L, Wessels, M, Bialer, M, Willems, P, Cohn, D, Krakow, D, Robertson, S
יצא לאור 2005

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

מאת Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
הוצא לאור ב Clin Genet (2017)

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

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

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

מאת 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.
יצא לאור 2009

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

מאת 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
יצא לאור 1999

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

מאת 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
הוצא לאור ב Genet Med (2015)

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

מאת 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
יצא לאור 2004

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

מאת 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.
יצא לאור 2011