StanleyFNelsonMD

PubMed

• Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
  Lucy McNamee, Kelly Schoch, Alden Huang, Hane Lee, Lee-Kai Wang
  American Journal of Medical Genetics. Part A. 2024-11-01
• High-Throughput Genomics Identify NovelVariants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
  Gloria K E Zodanu, John H Hwang, Zubin Mehta, Carlos Sisniega, Alexander Barsegian
  International Journal of Molecular Sciences. 2024-05-17
• Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
  Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze
  Neurology. Genetics. 2023-10-01

Journal Articles

• Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease  
  Carlos A Bacino, Vandana Shashi, Euan A Ashley, Cynthia J Tifft, William A Gahl, Brendan H Lee, John J Mulvihill, Rizwan Hamid, Matthew T Wheeler, Jonathan A Bernstein..., The New England Journal of Medicine
• KAT6A Syndrome: Genotype–Phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants  
  Valerie A Arboleda, Marni J Falk, Stanley F Nelson, Hakon Hakonarson, Susan Schelley, Nature
• DMD Genotype Correlations from duchenneConnect: Endogenous Exon Skipping Is a Factor in Prolonged Ambulation for Individuals with a Defined Mutation Sub‐Type  
  Negar Khanlou, Stanley F Nelson, Human Mutation
• Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia  
  Chang VY, Basso G, Sakamoto KM, Nelson SF, BMC Cancer, 2/4/2013
• Individual common variants exert weak effects on the risk for autism spectrum disorderspi  
  Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C,..., Human Molecular Genetics, 11/1/2012
• Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome  
  Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF, Pediatric Blood & Cancer, 9/26/2012
• Identification of retinol binding protein 1 promoter hypermethylation in isocitrate dehydrogenase 1 and 2 mutant gliomas  
  Chou AP, Chowdhury R, Li S, Chen W, Kim AJ, Piccioni DE, Selfridge JM, Mody RR, Chang S, Lalezari S, Lin J, Sanchez DE, Wilson RW, Garrett MC, Harry B, Mottahedeh J, N..., Journal of the National Cancer Institute, 9/3/2012
• Molecular diagnosis of putative Stargardt disease probands by exome sequencing  
  Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB, BMC Medical Genetics, 8/3/2012
• The variant call format and VCFtools  
  Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group, Bioinformatics, 8/1/2012
• High throughput screening for compounds that alter muscle cell glycosylation identifies a new role for N-glycans in regulating sarcolemmal protein abundance and lamini...  
  Cabrera PV, Pang M, Marshall JL, Kung R, Nelson SF, Stalnaker SH, Wells L, Crosbie-Watson RH, Baum LG, Journal of Biological Chemistry, 6/29/2012
• Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome  
  Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell'angelica EC, Nelson SF, Martin..., Nature Genetics, 5/27/2012
• Mutations in the RNA exosome component EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration  
  Wan J, Yourshaw M, Mamsa H, Rudnik- Schoneborn, Menezes MP, Hong JE, Leong DW, Senderek JP, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann J. Kornberg LA,..., Nature Genetics, 4/29/2012
• Exome sequencing identifies mutations in PDE4D in acrodysostosis  
  Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH, American Journal of Human Genetics, 4/6/2012
• A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder  
  Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, B..., Human Genetics, 4/1/2012
• Melanoma whole-exome sequencing identifies V600EB-RAF amplification-mediated acquired B-RAF inhibitor resistance  
  Shi H, Moriceau G, Kong X, Lee MK, Lee H, Koya RC, Ng C, Chodon T, Scolyer RA, Dahlman KB, Sosman JA, Kefford RF, Long GV, Nelson SF, Ribas A, Lo RS, Nature Communications, 3/6/2012
• Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: The role of rare variants and duplications at 15q133  
  Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M, Thapar A, O'Donovan MC, Owen MJ, Holmans P, Kent L, Middleton F, Zhang-James Y, Liu L, Meyer J, Nguyen TT,..., American Journal of Psychiatry, 2/1/2012
• Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD  
  Stergiakouli E, Hamshere M, Holmans P, Langley K, Zaharieva I; deCODE Genetics; Psychiatric GWAS Consortium, Hawi Z, Kent L, Gill M, Williams N, Owen MJ, O'Donovan M, ..., American Journal of Psychiatry, 2/1/2012
• Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions  
  Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS..., New England Journal of Medicine, 1/26/2012
• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium  
  Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attie-Bitach T, Logan CV, Glass ..., Nature Genetics, 1/15/2012
• ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome  
  Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, M..., Nature Genetics, 1/1/2012
• Identification of allele-specific alternative mRNA processing via transcriptome sequencing  
  Li G, Bahn JH, Lee JH, Peng G, Chen Z, Nelson SF, Xiao X, Nucleic Acids Research, 1/1/2012
• Autocrine endothelin-3/endothelinreceptor B signaling maintains cellular and molecular properties of glioblastoma stem cells  
  Liu Y, Ye F, Yamada K, Tso J, Zhang Y, Nguyen DH, Dong Q, Soto H, Choe J, Dembo A, Wheeler H, Eskin A, Schmid I, Yong WH, Mischel PS, Cloughesy TF, Kornblum HI, Nelson..., Molecular Cancer Research, 12/1/2011
• Genome-wide association study in German patients with attention deficit/hyperactivity disorder  
  Hinney A, Scherag A, Jarick I, Albayrak o, Putter C, Pechlivanis S, Dauvermann MR, Beck S, Weber H, Scherag S, Nguyen TT, Volckmar AL, Knoll N, Faraone SV, Neale BM,..., American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 12/1/2011
• Decitabine immunosensitizes human gliomas to NY-ESO-1 specific T lymphocyte targeting through the Fas/Fas Ligand pathway  
  Konkankit VV, Kim W, Koya RC, Eskin A, Dam MA, Nelson SF, Ribas A, Liau LM, Prins RM, Journal of Translational Medicine, 11/7/2011
• Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders  
  Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E; The Autism Genome Project; Buxbaum JD, Sutcliffe J, Gill M, Gallagher L; The AGP Members; Bailey AJ, Ferna..., European Journal of Human Genetics, 10/1/2011
• Join now to see all