Authors:
Mykytyn, K
Braun, T
Carmi, R
Haider, NB
Searby, CC
Shastri, M
Beck, G
Wright, AF
Iannaccone, A
Elbedour, K
Riise, R
Baldi, A
Raas-Rothschild, A
Gorman, SW
Duhl, DM
Jacobson, SG
Casavant, T
Stone, EM
Sheffield, VC
Citation: K. Mykytyn et al., Identification of the gene that, when mutated, causes the human obesity syndrome BBS4, NAT GENET, 28(2), 2001, pp. 188-191
Authors:
Nishimura, DY
Searby, CC
Carmi, R
Elbedour, K
Van Maldergem, L
Fulton, AB
Lam, BL
Powell, BR
Swiderski, RE
Bugge, KE
Haider, NB
Kwitek-Black, AE
Ying, LH
Duhl, DM
Gorman, SW
Heon, E
Iannaccone, A
Bonneau, D
Biesecker, LG
Jacobson, SG
Stone, EM
Sheffield, VC
Citation: Dy. Nishimura et al., Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), HUM MOL GEN, 10(8), 2001, pp. 865-874
Citation: Nb. Haider et al., Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice, HUM MOL GEN, 10(16), 2001, pp. 1619-1626
Authors:
Haider, NB
Jacobson, SG
Cideciyan, AV
Swiderski, R
Streb, LM
Searby, C
Beck, G
Hockey, R
Hanna, DB
Gorman, S
Duhl, D
Carmi, R
Bennett, J
Weleber, RG
Fishman, GA
Wright, AF
Stone, EM
Sheffield, VC
Citation: Nb. Haider et al., Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate, NAT GENET, 24(2), 2000, pp. 127-131
Citation: T. Ventura-holman et al., The human FEM1B gene maps to chromosome 15q22 and is excluded as the gene for Bardet-Biedl syndrome, type 4, AM J MED SC, 319(4), 2000, pp. 268-270
Authors:
Gorman, SW
Haider, NB
Grieshammer, U
Swiderski, RE
Kim, E
Welch, JW
Searby, C
Leng, S
Carmi, R
Sheffield, VC
Duhl, DM
Citation: Sw. Gorman et al., The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23, GENOMICS, 59(2), 1999, pp. 150-160
Authors:
Haider, NB
Searby, C
Galperin, E
Mintz, L
Horowitz, M
Stone, EM
Sheffield, VC
Citation: Nb. Haider et al., Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl Syndrome 1 (BBS1), GENE, 240(1), 1999, pp. 227-232