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Title	Author(s)	Issue Date
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly Journal:Human Molecular Genetics	Scherer, SW Poorkaj, P Massa, H Soder, S Allen, T Nunes, M Geshuri, D Wong, E Belloni, E Little, S Zhou, L Becker, D Kere, J Ignatius, J Niikawa, N Fukushima, Y Hasegawa, T Weissenbach, J Boncinelli, E Trask, B Tsui, L-C Evans, JP	1994
Physical mapping of the holoprosencephaly critical region on chromosome 7q36 Journal:Nature Genetics	Gurrieri, F Trask, BJ Van Den Engh, G Krauss, CM Schinzel, A Pettenati, MJ Schindler, D DietzBand, J Vergnaud, G Scherer, SW Tsui, LC Muenke, M	1993
Physical mapping of the chromosome 7 breakpoint region in an SLOS Patient with t(7;20)(q32.1;q!3.2) Journal:American Journal of Medical Genetics	Alley, TL Scherer, SW Huizenga, JJ Tsui, LC Wallace, MR	1997
Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype Journal:Cancer Genetics and Cytogenetics	De Silva, MG Kantharidis, P Scherer, SW Rayeroux, K Campbell, L Tsui, LC Zalcberg, JR	1999
Phenotypic spectrum associated with PTCHD1 deletion and truncating mutations includes intellectual disability and autism spectrum disorder Journal:Clinical Genetics	Chaudhry, A Noor, A Degagne, B Baker, K Bok, LA Brady, AF Chitayat, D Chung, BHY Cytrynbaum, C Dyment, D Filges, I Helm, B Hutchison, HT Jeng, LJB Laumonnier, F Marshall, CR Menzel, M Parkash, S Parker, MJ The, DDD STUDY Raymond, FL Rideout, AL Roberts, W Rupps, R Schanze, I Schrander-Stumpel, CTRM Speevak, MD Stavropoulos, DJ Stevens, SJC Thomas, ERA Toutain, A Vergano, S Weksberg, R Scherer, SW Vincent, JB Carter, MT	2015
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Journal:European Journal of Medical Genetics	Chung, BHY Drmic, I Marshall, CR Grafodatskaya, D Carter, M Fernandez, BA Weksberg, R Roberts, W Scherer, SW	2011
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Journal:Journal of Medical Genetics	Fernandez, BA Roberts, W Chung, B Weksberg, R Meyn, S Szatmari, P JosephGeorge, AM MacKay, S Whitten, K Noble, B Vardy, C Crosbie, V Luscombe, S Tucker, E Turner, L Marshall, CR Scherer, SW	2010
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay Journal:Journal of Medical Genetics	Yeung, KS Ho, SP Lee, SL Kan, SYA Chan, YK Tang, MHY MAK, CCY Leung, KC So, PL Pfundt, R Marshall, CR Scherer, SW Choufani, S Weksberg, R Chung, BHY	2018
Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus Journal:Journal of Clinical Endocrinology and Metabolism	Hegele, RA Connelly, PW Scherer, SW Hanley, AJG Harris, SB Tsui, LC Zinman, B	1997
Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes [7] Journal:Lancet	Hegele, RA Connelly, PW Scherer, SW Hanley, AJG Harris, SB Tsui, LC Zinman, B	1997
A panel of radiation hybrids defining the 7q31-q32 region of human chromosome 7 Journal:DNA Research	Nakabayashi, K Ogata, T Fujii, M Takahashi, EI Ogino, H Migihshita, E Scherer, SW Tsui, LC Ayusawa, D	1996
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Journal:Nature genetics	Roessler, E Belloni, E Gaudenz, K Jay, P Berta, P Scherer, SW Tsui, LC Muenke, M	1996
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly Journal:Human Molecular Genetics	Roessler, E Belloni, E Gaudenz, K Vargas, F Scherer, SW Tsui, LC Muenke, M	1997
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy Journal:Nature Genetics	Minassian, BA Lee Jeffrey, R Herbrick, JA Huizenga, J Soder, S Mungall, AJ Dunham, I Gardner, R Fong, CYG Carpenter, S Jardim, L Satishchandra, P Andermann, E Carter Snead III, O LopesCendes, I Tsui, LC DelgadoEscueta, AV Rouleau, GA Scherer, SW	1998
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Journal:BMC Medical Genomics	Grafodatskaya, D Chung, BHY Butcher, DJ Turinsky, AL Goodman, SJ Choufani, S Chen, YA Lou, Y Zhao, C Rajendram, R Abidi, FE Skinner, C Stavropoulos, J Bondy, CA Hamilton, J Wodak, S Scherer, SW Schwartz, CE Weksberg, R	2013
Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia Journal:Blood	Johnson, EJ Scherer, SW Osborne, L Tsui, LC Oscier, D Mould, S Cotter, FE	1996
Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias Journal:Blood	Fischer, K Fröhling, S Scherer, SW Brown, JM Scholl, C Stilgenbauer, S Tsui, LC Lichter, P Döhner, H	1997
Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders Journal:Blood	Döhner, K Brown, J Hehmann, U Hetzel, C Stewart, J Lowther, G Scholl, C Fröhling, S Cuneo, A Tsui, LC Lichter, P Scherer, SW Döhner, H	1998
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site Journal:Proceedings of the National Academy of Sciences of the United States of America	Mishmar, D Rahat, A Scherer, SW Nyakatura, G Hinzmann, B Kohwi, Y MandelGutfroind, Y Lee, JR Drescher, B Sas, DE Margalit, H Platzer, M Weiss, A Tsui, LC Rosenthal, A Kerem, B	1998
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre) Journal:Human Molecular Genetics	Coyle, B Reardon, W Herbrick, JA Tsui, LC Gausden, E Lee, J Coffey, R Grueters, A Grossman, A Phelps, PD Luxon, L KendallTaylor, P Scherer, SW Trembath, RC	1998

Showing results 21 to 40 of 110 < previous next >