Stanley F Nelson

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Stanley F



Publications in SciGraph latest 50 shown

  • 2018-12 Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-YPOS mouse model in BIOLOGY OF SEX DIFFERENCES
  • 2018-12 Calculating the statistical significance of rare variants causal for Mendelian and complex disorders in BMC MEDICAL GENOMICS
  • 2018-09-01 Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse in EXON SKIPPING AND INCLUSION THERAPIES
  • 2018-01 ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs in NATURE CELL BIOLOGY
  • 2017-12 Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis in GENOME MEDICINE
  • 2017-07 Rare deleterious mutations are associated with disease in bipolar disorder families in MOLECULAR PSYCHIATRY
  • 2016-12 A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome in CILIA
  • 2016-11 Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation in NPJ GENOMIC MEDICINE
  • 2016-05 Clinical aggressiveness of malignant gliomas is linked to augmented metabolism of amino acids in JOURNAL OF NEURO-ONCOLOGY
  • 2016-01 Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome in NATURE COMMUNICATIONS
  • 2015-12 Bone morphogenetic protein 7 sensitizes O6-methylguanine methyltransferase expressing-glioblastoma stem cells to clinically relevant dose of temozolomide in MOLECULAR CANCER
  • 2015-07 Expanding the mutational spectrum of LZTR1 in schwannomatosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-05 High-throughput profiling of influenza A virus hemagglutinin gene at single-nucleotide resolution in SCIENTIFIC REPORTS
  • 2014-12 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing in BMC MEDICAL GENETICS
  • 2014-12 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy in BMC MEDICAL GENETICS
  • 2014-07 Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory in GENETICS IN MEDICINE
  • 2013-12 Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia in BMC CANCER
  • 2012-12 Molecular diagnosis of putative Stargardt disease probands by exome sequencing in BMC MEDICAL GENETICS
  • 2012-07 Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome in NATURE GENETICS
  • 2012-06 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration in NATURE GENETICS
  • 2012-06 Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 in NATURE GENETICS
  • 2012-05 ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome in NATURE GENETICS
  • 2012-03 DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study in GENETICS IN MEDICINE
  • 2012-03 In This Issue in GENETICS IN MEDICINE
  • 2012-01 Melanoma whole-exome sequencing identifies V600EB-RAF amplification-mediated acquired B-RAF inhibitor resistance in NATURE COMMUNICATIONS
  • 2011-12 Decitabine immunosensitizes human gliomas to NY-ESO-1 specific T lymphocyte targeting through the Fas/Fas Ligand pathway in JOURNAL OF TRANSLATIONAL MEDICINE
  • 2011-11 DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study in GENETICS IN MEDICINE
  • 2011-02-27 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 in NATURE GENETICS
  • 2010-12 SeqWare Query Engine: storing and searching sequence data in the cloud in BMC BIOINFORMATICS
  • 2010-12 Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation in NATURE
  • 2010-12 Local alignment of generalized k-base encoded DNA sequence in BMC BIOINFORMATICS
  • 2010-10 High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene in MOLECULAR PSYCHIATRY
  • 2010-10 Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA in GENOME BIOLOGY
  • 2010-02 Stem cell associated gene expression in glioblastoma multiforme: relationship to survival and the subventricular zone in JOURNAL OF NEURO-ONCOLOGY
  • 2009-12 Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing in BMC GENOMICS
  • 2009-12 Local alignment of two-base encoded DNA sequence in BMC BIOINFORMATICS
  • 2009-08 Molecular properties of CD133+ glioblastoma stem cells derived from treatment-refractory recurrent brain tumors in JOURNAL OF NEURO-ONCOLOGY
  • 2008-12 Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age in BMC MEDICAL GENOMICS
  • 2008-12 Expression profile of CREB knockdown in myeloid leukemia cells in BMC CANCER
  • 2008-12 Genetically defined EWS/FLI1 model system suggests mesenchymal origin of Ewing's family tumors in LABORATORY INVESTIGATION
  • 2008-10 Sex chromosome anomalies in childhood onset schizophrenia: an update in MOLECULAR PSYCHIATRY
  • 2008-08 Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia in NATURE GENETICS
  • 2008-03 Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning in NATURE
  • 2008-03 CREB regulates Meis1 expression in normal and malignant hematopoietic cells in LEUKEMIA
  • 2007-12 Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression in BMC GENOMICS
  • 2007-08 Association of progesterone receptor with migraine-associated vertigo in NEUROGENETICS
  • 2007-06 Celsius: a community resource for Affymetrix microarray data in GENOME BIOLOGY
  • 2007-02 Sequence variant in the laminin γ1 (LAMC1) gene associated with familial pelvic organ prolapse in HUMAN GENETICS
  • 2006-12 Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks in BMC GENOMICS
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