Authors:
Reiter, LT
Potocki, L
Chien, S
Gribskov, M
Bier, E
Citation: Lt. Reiter et al., A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster, GENOME RES, 11(6), 2001, pp. 1114-1125
Authors:
Liburd, N
Ghosh, M
Riazuddin, S
Naz, S
Khan, S
Ahmed, Z
Riazuddin, S
Liang, Y
Menon, PSN
Smith, T
Smith, ACM
Chen, KS
Lupski, JR
Wilcox, ER
Potocki, L
Friedman, TB
Citation: N. Liburd et al., Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome, HUM GENET, 109(5), 2001, pp. 535-541
Authors:
Stankiewicz, P
Park, SS
Holder, SE
Waters, CS
Palmer, RW
Berend, SA
Shaffer, LG
Potocki, L
Lupski, JR
Citation: P. Stankiewicz et al., Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype, CLIN GENET, 60(5), 2001, pp. 336-344
Authors:
Potocki, L
Chen, KS
Park, SS
Osterholm, DE
Withers, MA
Kimonis, V
Summers, AM
Meschino, WS
Anyane-Yeboa, K
Kashork, CD
Shaffer, LG
Lupski, JR
Citation: L. Potocki et al., Molecular mechanism for duplication 17p11.2 - the homologous recombinationreciprocal of the Smith-Magenis microdeletion, NAT GENET, 24(1), 2000, pp. 84-87
Authors:
Wu, YQ
Badano, JL
McCaskill, C
Vogel, H
Potocki, L
Shaffer, LG
Citation: Yq. Wu et al., Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome, AM J HU GEN, 67(5), 2000, pp. 1327-1332
Citation: L. Potocki et al., Subunit 3 of the COP9 signal transduction complex is conserved from plantsto humans and maps within the Smith-Magenis syndrome critical region in 17p11.2, GENOMICS, 57(1), 1999, pp. 180-182
Authors:
Potocki, L
Chen, KS
Koeuth, T
Killian, J
Iannaccone, ST
Shapira, SK
Kashork, CD
Spikes, AS
Shaffer, LG
Lupski, JR
Citation: L. Potocki et al., DNA rearrangements on both homologues of chromosome 17 in a mildly delayedindividual with a family history of autosomal dominant carpal tunnel syndrome, AM J HU GEN, 64(2), 1999, pp. 471-478