S. Scherer
Personal Home Page
http://www.hhmi.org/research/scholars/scherer_bio.ht
Articles in Scholarly Journals [Incomplete List]
- Sequence variants within exon 1 ofMECP2 occur in females with mental retardation
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 144B, no. 3, pp. 355–360, 2007 - Sequence variants within exon 1 ofMECP2 occur in females with mental retardation. Am J Medical Genetics Part B (Neuropsychiatric Genetic) 144B:355–360 (2007)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 144B, no. 7, pp. 969–969, 2007 - Germ-line DNA copy number variation frequencies in a large North American population
Human Genetics, vol. 122, no. 3-4, pp. 345–353, 2007 - Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
Schizophrenia Research, vol. 95, no. 1-3, pp. 228–235, 2007 - Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis
Nature Genetics, vol. 39, no. 2, Article ID ng0207-153, 2 pages, 2007 - Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature Genetics, vol. 39, no. 3, Article ID ng1985, 9 pages, 2007 - Challenges and standards in integrating surveys of structural variation
Nature Genetics, vol. 39, no. 7s, Article ID ng2093, 2007 - Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Science, vol. 315, no. 5813, pp. 848–853, 2007 - Evolutionary implications of inversions that have caused intra-strand parity in DNA
BMC Genomics, vol. 8, no. 1, p. 160, 2007 - Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse
BMC Genomics, vol. 8, no. 1, p. 92, 2007 - The Diploid Genome Sequence of an Individual Human
PLoS Biology, vol. 5, no. 10, p. e254, 2007 - Identification of the Imprinted KLF14 Transcription Factor Undergoing Human-Specific Accelerated Evolution
PLoS Genetics, vol. 3, no. 5, p. e65, 2007 - Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome
Clinical Chemistry, vol. 52, no. 1, pp. 46–52, 2006 - BMC Genomics, vol. 7, no. 1, p. 45, 2006
- Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
Cytogenetic and Genome Research, vol. 115, no. 3-4, pp. 205–214, 2006 - Copy number variation: New insights in genome diversity
Genome Research, vol. 16, no. 8, pp. 949–961, 2006 - Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
Genome Research, vol. 16, no. 12, pp. 1575–1584, 2006 - Accurate and reliable high-throughput detection of copy number variation in the human genome
Genome Research, vol. 16, no. 12, pp. 1566–1574, 2006 - Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes
Physiological Genomics, vol. 27, no. 3, pp. 201–218, 2006 - Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia
The American Journal of Human Genetics, vol. 79, no. 5, pp. 965–972, 2006 - Structural variants: changing the landscape of chromosomes and design of disease studies
Human Molecular Genetics, vol. 15, no. 90001, pp. R57–R66, 2006 - Genome assembly comparison identifies structural variants in the human genome
Nature Genetics, vol. 38, no. 12, Article ID ng1921, 5 pages, 2006 - Structural variation in the human genome
Nature Reviews Genetics, vol. 7, no. 2, Article ID nrg1767, 12 pages, 2006 - Implications of copy-number variation in the human genome: a time for questions
Nature Reviews Genetics, vol. 7, no. 6, Article ID nrg1884, 1 pages, 2006 - Hotspots for copy number variation in chimpanzees and humans
Proceedings of the National Academy of Sciences, vol. 103, no. 21, pp. 8006–8011, 2006 - Frequent appearance of novel protein-coding sequences by frameshift translation
Genomics, vol. 88, no. 6, pp. 690–697, 2006 - Global variation in copy number in the human genome
Nature, vol. 444, no. 7118, Article ID nature05329, 10 pages, 2006 - Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region
Journal of Autism and Developmental Disorders, vol. 37, no. 4, pp. 694–702, 2006 - IQCJ–SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein
Biochemical and Biophysical Research Communications, vol. 350, no. 4, pp. 890–899, 2006 - Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)
European Journal of Medical Genetics, vol. 49, no. 4, pp. 338–345, 2006 - Protein therapy for Unverricht–Lundborg disease using cystatin B transduction by TAT-PTDIs it that simple?
Epilepsy Research, vol. 72, no. 1, pp. 75–79, 2006 - Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome
Molecular Genetics and Genomics, vol. 277, no. 1, pp. 71–81, 2006 - Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involvesFOXP2
American Journal of Medical Genetics Part A, vol. 140A, no. 5, pp. 509–514, 2006 - Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes
Human Mutation, vol. 26, no. 4, pp. 397–397, 2005 - Altered expression and deletion ofRMO1 in osteosarcoma
International Journal of Cancer, vol. 114, no. 5, pp. 738–746, 2005 - Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children
Human Genetics, vol. 117, no. 4, pp. 383–388, 2005 - Early BrdU-responsive genes constitute a novel class of senescence-associated genes in human cells
Experimental Cell Research, vol. 304, no. 2, pp. 552–558, 2005 - Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25–q29 inversion in an individual with language delay
Genomics, vol. 86, no. 2, pp. 182–194, 2005 - Murine segmental duplications are hot spots for chromosome and gene evolution
Genomics, vol. 86, no. 6, pp. 692–700, 2005 - Severe Expressive-Language Delay Related to Duplication of the Williams-Beuren Locus
New England Journal of Medicine, vol. 353, no. 16, pp. 1694–1701, 2005 - Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
Human Molecular Genetics, vol. 14, no. 18, pp. 2727–2736, 2005 - Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy
The American Journal of Human Genetics, vol. 76, no. 3, pp. 510–516, 2005 - Expanded Repeat in Canine Epilepsy
Science, vol. 307, no. 5706, pp. 81–81, 2005 - An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
Journal of Medical Genetics, vol. 43, no. 5, pp. 429–434, 2005 - Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature
Clinical Genetics, vol. 68, no. 4, pp. 349–359, 2005 - Genetic Variation at the ACE Gene Is Associated With Persistent Microalbuminuria and Severe Nephropathy in Type 1 Diabetes: The DCCT/EDIC Genetics Study
Diabetes, vol. 54, no. 4, pp. 1238–1244, 2005 - Molecular Cytogenetics of Autism
Current Genomics, vol. 5, no. 4, pp. 347–364, 2004 - Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues
Journal of Medical Genetics, vol. 41, no. 8, pp. 601–608, 2004 - Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
Human Molecular Genetics, vol. 13, no. 11, pp. 1117–1129, 2004 - Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome
Human Molecular Genetics, vol. 13, no. suppl_2, pp. R303–R313, 2004 - Post-transcriptional Regulation of Endothelial Nitric-oxide Synthase by an Overlapping Antisense mRNA Transcript
Journal of Biological Chemistry, vol. 279, no. 36, pp. 37982–37996, 2004 - Endothelial Nitric-oxide Synthase Antisense (NOS3AS) Gene Encodes an Autophagy-related Protein (APG9-like2) Highly Expressed in Trophoblast
Journal of Biological Chemistry, vol. 280, no. 18, pp. 18283–18290, 2004 - Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling
Oncogene, vol. 23, no. 26, Article ID 1207605, 6 pages, 2004 - A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
Nature Genetics, vol. 36, no. 4, Article ID ng1327, 2 pages, 2004 - Detection of large-scale variation in the human genome
Nature Genetics, vol. 36, no. 9, Article ID ng1416, 2 pages, 2004 - Erratum: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
Nature Genetics, vol. 36, no. 5, Article ID ng0504-540b, 1 pages, 2004 - Characterization of the segmental duplication LCR7-20 in the human genome
Genomics, vol. 83, no. 2, pp. 262–269, 2004 - Corrigendum to “The hyaluronidase gene HYAL1 maps to chromosome 3p21.2–p21.3 in human and 9F1–F2 in mouse, a conserved candidate tumor suppressor locus” [Genomics 48 (1998) 63–70]
Genomics, vol. 84, no. 1, p. 227, 2004 - Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells
Experimental Gerontology, vol. 39, no. 7, pp. 1069–1078, 2004 - Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer
Cancer Letters, vol. 203, no. 1, pp. 87–90, 2004 - Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy
Human Mutation, vol. 23, no. 2, pp. 170–176, 2004 - Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism
American Journal of Medical Genetics, vol. 125B, no. 1, pp. 54–56, 2004 - Mutation screening of X-chromosomal neuroligin genes: No mutations in 196 autism probands
American Journal of Medical Genetics, vol. 129B, no. 1, pp. 82–84, 2004 - De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder
American Journal of Medical Genetics, vol. 129A, no. 1, pp. 98–100, 2004 - Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus
American Journal of Medical Genetics, vol. 117A, no. 2, pp. 122–126, 2003 - Heterogeneity of the 7q36 breakpoints in the t(7;12) involvingETV6 in infant leukemia
Genes, Chromosomes and Cancer, vol. 38, no. 2, pp. 191–200, 2003 - Mutations in NHLRC1 cause progressive myoclonus epilepsy
Nature Genetics, vol. 35, no. 2, Article ID ng1238, 2 pages, 2003 - A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5)
Biochemical and Biophysical Research Communications, vol. 301, no. 1, pp. 98–101, 2003 - Induction of neuropilins-1 and -2 and their ligands, Sema3A, Sema3F, and VEGF, during Wallerian degeneration in the peripheral nervous system
Experimental Neurology, vol. 183, no. 2, pp. 489–498, 2003 - corrigendum: Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)K?
Nature, vol. 426, no. 6966, Article ID nature02203, 1 pages, 2003 - Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family
Genomics, vol. 81, no. 3, pp. 279–291, 2003 - Identification of a novel protein interacting with laforin, the epm2a progressive myoclonus epilepsy gene product
Genomics, vol. 81, no. 6, pp. 579–587, 2003 - Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
Human Molecular Genetics, vol. 12, no. 17, pp. 2201–2208, 2003 - Genescript: DNA sequence annotation pipeline
Bioinformatics, vol. 19, no. 9, pp. 1177–1178, 2003 - Human Chromosome 7: DNA Sequence and Biology
Science, vol. 300, no. 5620, pp. 767–772, 2003 - The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome
Journal of Medical Genetics, vol. 40, no. 4, pp. 249–256, 2003 - Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
Journal of Medical Genetics, vol. 40, no. 9, pp. 671–675, 2003 - Molecular Basis for Expression of Common and Rare Fragile Sites
Molecular and Cellular Biology, vol. 23, no. 20, pp. 7143–7151, 2003 - GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome
Blood, vol. 101, no. 11, pp. 4301–4304, 2003 - Genome Biology, vol. 4, no. 4, p. 109, 2003
- Genomics and Pediatric Research
Pediatric Research, vol. 53, no. 1, pp. 4–9, 2003 - Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32
Human Molecular Genetics, vol. 11, no. 15, pp. 1743–1756, 2002 - Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
Human Molecular Genetics, vol. 11, no. 17, pp. 1987–1995, 2002 - A role for common fragile site induction in amplification of human oncogenes
Cancer Cell, vol. 1, no. 1, pp. 89–97, 2002 - Mutations in SUFU predispose to medulloblastoma
Nature Genetics, vol. 31, no. 3, Article ID ng916, 4 pages, 2002 - Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
Proceedings of the National Academy of Sciences, vol. 99, no. 11, pp. 7548–7553, 2002 - Genetic analysis of patients with the Saethre-Chotzen phenotype
American Journal of Medical Genetics, vol. 110, no. 2, pp. 136–143, 2002 - Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome
Genomics, vol. 79, no. 2, pp. 186–196, 2002 - The RAY1/ST7 Tumor-Suppressor Locus on Chromosome 7q31 Represents a Complex Multi-transcript System
Genomics, vol. 80, no. 3, pp. 283–294, 2002 - Cloning and Characterization of Three Novel Genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the Juvenile Amyotrophic Lateral Sclerosis (ALS2) Critical Region at Chromosome 2q33–q34: Candidate Genes for ALS2
Genomics, vol. 71, no. 2, pp. 200–213, 2001 - Maternal and Paternal Chromosomes 7 Show Differential Methylation of Many Genes in Lymphoblast DNA
Genomics, vol. 73, no. 1, pp. 1–9, 2001 - The Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35
Genomics, vol. 73, no. 1, pp. 108–112, 2001 - Identification of the Human Cortactin-Binding Protein-2 Gene from the Autism Candidate Region at 7q31
Genomics, vol. 78, no. 1-2, pp. 7–11, 2001 - Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
Annals of Neurology, vol. 49, no. 2, pp. 271–275, 2001 - Genetic mapping and DNA sequence-based analysis of deleted regions on chromosome 16 involved in progression of bladder cancer from occult preneoplastic conditions to invasive disease
Oncogene, vol. 20, no. 36, Article ID 1204612, 9 pages, 2001 - Disruption of a Novel Gene ([ITAL]IMMP2L[/ITAL]) by a Breakpoint in 7q31 Associated with Tourette Syndrome
The American Journal of Human Genetics, vol. 68, no. 4, pp. 848–858, 2001 - Nature Genetics, vol. 29, no. 3, pp. 321–325, 2001
- Nature Genetics, vol. 29, no. 2, pp. 166–173, 2001
- Nature Genetics, vol. 29, no. 3, pp. 352–352, 2001
- Discovery of the human genome sequence in the public and private databases
Current Biology, vol. 11, no. 20, pp. R808–R811, 2001 - Nature Genetics, vol. 28, no. 3, pp. 220–221, 2001
- Localization of the human mGluR4 gene within an epilepsy susceptibility locus
Molecular Brain Research, vol. 87, no. 1, pp. 109–116, 2001 - Mutation analysis of the origin recognition complex subunit 5 ( ORC5L ) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22
Human Genetics, vol. 108, no. 4, pp. 304–309, 2001 - Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5
Nucleic Acids Research, vol. 29, no. 6, pp. 1352–1365, 2001 - The Human Homologue of Flamingo, EGFL2, Encodes a Brain-Expressed Large Cadherin-Like Protein with Epidermal Growth Factor-Like Domains, and Maps to Chromosome 1p13.3-p21.1
DNA Research, vol. 7, no. 3, pp. 233–235, 2000 - Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability
Molecular and Cellular Biology, vol. 20, no. 12, pp. 4420–4427, 2000 - Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32
Cytogenetic and Genome Research, vol. 88, no. 3-4, pp. 249–252, 2000 - Localization of the human SP3 gene to chromosome 7p14–p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization
Journal of Neuroimmunology, vol. 106, no. 1-2, pp. 214–219, 2000 - Nature, vol. 406, no. 6798, pp. 897–902, 2000
- Nature Genetics, vol. 26, no. 1, pp. 71–75, 2000
- Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency
Clinical Genetics, vol. 57, no. 5, pp. 388–393, 2000 - Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome
The American Journal of Human Genetics, vol. 66, no. 1, pp. 312–319, 2000 - Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual
The American Journal of Human Genetics, vol. 67, no. 2, pp. 510–514, 2000 - Characterization of Terminal Deletions at 7q32 and 22q13.3 Healed by De Novo Telomere Addition
The American Journal of Human Genetics, vol. 67, no. 3, pp. 610–622, 2000 - X-linked vacuolar myopathies: Two separate loci and refined genetic mapping
Annals of Neurology, vol. 47, no. 5, pp. 666–669, 2000 - t(7;12)(q36;p13), a new recurrent translocation involvingETV6 in infant leukemia
Genes, Chromosomes and Cancer, vol. 29, no. 4, pp. 325–332, 2000 - Small GTPase Rac1: Structure, Localization, and Expression of the Human Gene
Biochemical and Biophysical Research Communications, vol. 277, no. 3, pp. 741–751, 2000 - Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
Annals of Neurology, vol. 45, no. 2, pp. 262–265, 1999 - Characterization of the human myeloid leukemia-derived cell line GF-D8 by multiplex fluorescence in situ hybridization, subtelomeric probes, and comparative genomic hybridization
Genes, Chromosomes and Cancer, vol. 24, no. 3, pp. 213–221, 1999 - Delineation of multiple deleted regions in 7q in myeloid disorders
Genes, Chromosomes and Cancer, vol. 25, no. 4, pp. 384–392, 1999 - A Yeast Artificial Chromosome-Based Physical Map of the Juvenile Amyotrophic Lateral Sclerosis (ALS2) Critical Region on Human Chromosome 2q33–q34
Genomics, vol. 55, no. 1, pp. 106–112, 1999 - Cloning and Characterization of Two Cytoplasmic Dynein Intermediate Chain Genes in Mouse and Human
Genomics, vol. 55, no. 3, pp. 257–267, 1999 - Identification of a Putative Transcription Factor Gene (WBSCR11) That Is Commonly Deleted in Williams–Beuren Syndrome
Genomics, vol. 57, no. 2, pp. 279–284, 1999 - A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36,
Genomics, vol. 57, no. 3, pp. 342–351, 1999 - Expression Analysis of Six Paralogous Human Hyaluronidase Genes Clustered on Chromosomes 3p21 and 7q31, ,
Genomics, vol. 60, no. 3, pp. 356–361, 1999 - Chromosomal Localization of Phospholipase A2 Activating Protein, an Ets2 Target Gene, to 9p21
Genomics, vol. 62, no. 3, pp. 529–532, 1999 - Genomic Structure of the Adult-Onset Type II Citrullinemia Gene, SLC25A13, and Cloning and Expression of Its Mouse Homologue
Genomics, vol. 62, no. 2, pp. 289–292, 1999 - Molecular Characterization of Zyme/Protease M/Neurosin (PRSS9), A Hormonally Regulated Kallikrein-like Serine Protease
Genomics, vol. 62, no. 2, pp. 251–259, 1999 - Molecular Cloning of the Human Gene, PNKP, Encoding a Polynucleotide Kinase 3'-Phosphatase and Evidence for Its Role in Repair of DNA Strand Breaks Caused by Oxidative Damage
Journal of Biological Chemistry, vol. 274, no. 34, pp. 24176–24186, 1999 - p200 ARF-GEP1: A Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A
Proceedings of the National Academy of Sciences, vol. 96, no. 14, pp. 7968–7973, 1999 - Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations
Oncogene, vol. 18, no. 46, pp. 6271–6277, 1999 - Nature Genetics, vol. 22, no. 4, pp. 336–345, 1999
- Nature Genetics, vol. 22, no. 2, pp. 159–163, 1999
- Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene
Gene, vol. 240, no. 1, pp. 75–88, 1999 - Physical Mapping of a Tandem Duplication on the Long Arm of Chromosome 7 Associated with a Multidrug Resistant Phenotype
Cancer Genetics and Cytogenetics, vol. 110, no. 1, pp. 28–33, 1999 - Assignment1 of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24
Cytogenetic and Genome Research, vol. 87, no. 3-4, pp. 197–198, 1999 - Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus
Genome, vol. 42, no. 3, pp. 457–464, 1999