StanleyFNelsonMD

PubMed

• 1 citations
  Characterization of spastic paraplegia in a family with a novelmutation.
  John M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, Rebecca Signer, Julian Martinez-Agosto, Hane Lee, Emilie D Douine, Yuchuan Qiao, Yonggang Shi, Lina D'Orazio...> ;Brain Communications. 2023 Jan 1
• RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
  Tavasoli, A., Paul, F., Ng, C., Mohamad Sahari, U., Nafissi, S., Nilipoor, Y., Tavasoli, A., Bonnard, C., Wong, P., Nabavizadeh, N., Altunoğlu, U., Estiar, M., Majoie,...> ;Human Molecular Genetics. 2022 Oct 28
• 9 citations
  Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.
  Deirdre D Scripture-Adams, Kevin N Chesmore, Florian Barthélémy, Richard T Wang, Shirley Nieves-Rodriguez, Derek W Wang, Ekaterina I Mokhonova, Emilie D Douine, Jijun ...> ;Communications Biology. 2022 Sep 19
• 1 citations
  Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
  Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hülya Kayserili, Lihadh Al-Ga...> ;Nature Genetics. 2022 Feb 1
• 11 citations
  Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
  Paul C Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, Nghi D P Dang, Zhongyuan Zuo, Yuchun Wang, Di Lu, Fatima Fazal, Thomas A Ravenscroft, Hyunglok Chung, Oguz Kanca...> ;Science Advances. 2022 Jan 21
• 3 citations
  Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels.
  Florian Barthélémy, Jeffrey W Santoso, Laura Rabichow, Rongcheng Jin, Isaiah Little, Stanley F Nelson, Megan L McCain, M Carrie Miceli> ;Frontiers in Cell and Developmental Biology. 2022 Jan 1
• 3 citations
  Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
  Yan Zhao, Lee-kai Wang, Ascia Eskin, Xuedong Kang, Viviana M. Fajardo, Zubin Mehta, Stacy L. Pineles, Ryan J. Schmidt, Aaron Nagiel, Gary Satou, Meena Garg, Myke Feder...> ;Journal of Molecular Medicine. 2021 Aug 13
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Genetics in Medicine. 2021 Jul 6
• 12 citations
  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
  Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenf...> ;Genetics in Medicine. 2021 Jun 10
• 5 citations
  Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome
  Yue Huang, Katheryn Grand, Virginia Kimonis, Merlin G. Butler, Suparna Jain, Alden Y. Huang, Julian A. Martinez-Agosto, Stanley F. Nelson, Pedro A. Sanchez-Lara> ;Journal of Medical Genetics. 2021 Jun 7
• 12 citations
  Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
  Ilaria Mannucci, Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J....> ;Genome Medicine. 2021 May 21
• 7 citations
  Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
  Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill A. Rosenfeld, Erin Torti, Chad R. Haldeman-Englert, Evgenia...> ;Genetics in Medicine. 2021 Apr 8
• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
• 5 citations
  EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
  Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, S. A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Fa...> ;Orphanet Journal of Rare Diseases. 2021 Mar 18
• 5 citations
  Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
  Emily K Mis, Annalisa G Sega, Rebecca Signer, Tracy Cartwright, Weizhen Ji, Julian A. Martinez-Agosto, Stanley F. Nelson, Christina G.S. Palmer, Hane Lee, Thomas Mitze...> ;American Journal of Medical Genetics. Part A. 2021 Jan 13
• 7 citations
  Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.
  David P. Bishop, Mika T. Westerhausen, Florian Barthélémy, Thomas E. Lockwood, Nerida Cole, Elizabeth M. Gibbs, Rachelle H. Crosbie, Stanley F. Nelson, M. Carrie Micel...> ;Scientific Reports. 2021 Jan 13
• 1 citations
  Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants inGene Causing Juvenile Hypertrophic Cardiomyopathy.
  Jamie O Yang, Hapet Shaybekyan, Yan Zhao, Xuedong Kang, Gregory A Fishbein, Negar Khanlou, Juan C Alejos, Nancy Halnon, Gary Satou, Reshma Biniwale, Hane Lee, Glen Van...> ;Frontiers in Cardiovascular Medicine. 2021 Jan 1
• 4 citations
  Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019.
  Susan D. Apkon, Kathi Kinnett, Linda H. Cripe, Dongsheng Duan, Jamie L. Jackson, Joe N. Kornegay, May Ling Mah, Stanley F. Nelson, Vamshi Rao, Mena Scavina, Brenda L. ...> ;Journal of Neuromuscular Diseases. 2021 Jan 1
• 51 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 4 citations
  MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy.
  Leidy C. Merselis, Shirley Y Jiang, Stanley F. Nelson, Hane Lee, Kavitha K Prabaker, Jennifer L. Baker, George P. Munson, Manish J. Butte> ;Frontiers in Immunology. 2020 Nov 3
• 5 citations
  Novel NUDT2 variant causes intellectual disability and polyneuropathy.
  Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard E. Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew R. Herzog, Robert ...> ;Annals of Clinical and Translational Neurology. 2020 Oct 15
• 13 citations
  A well-tolerated core needle muscle biopsy process suitable for children and adults.
  Florian Barthélémy, Jeremy D. Woods, Shirley Nieves-Rodriguez, Emilie D. Douine, Richard T. Wang, Jonathan Wanagat, M. Carrie Miceli, Stanley F. Nelson> ;Muscle & Nerve. 2020 Sep 20
• 12 citations
  Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
  Anna Fliedner, Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst, Daryl A. Scott, Seema R. Lalani, Jill A. Rosenfeld, Mahshid S...> ;American Journal of Human Genetics. 2020 Sep 3
• Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
  Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tio...> ;Genetics in Medicine. 2020 Nov 1
• 16 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
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