JeremyWoodsMD

PubMed

• 2 citations
  A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
  Carolina I Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G Tise, Courtney P Verscaj, Kristina P Cusmano-Ozog, Niehaus, A., Schildt, A.> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• Next generation phenotyping with quantitative narration for DEGCAGS syndrome.
  Rebecca Freeman, Adriana Noronha, Jeremy Woods> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 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
• 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
• 16 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Brain. 2020 Aug 1
• Response to "MLASA1 is a poly-phenic but not a di-phenic condition".
  Jeremy D. Woods, Steven Cederbaum> ;Molecular Genetics and Metabolism Reports. 2020 Mar 1
• 5 citations
  Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
  Jeremy D. Woods, Negar Khanlou, Hane Lee, Rebecca Signer, Perry B. Shieh, Johnathan Chen, Matthew R. Herzog, Christina G.S. Palmer, Julian A. Martinez-Agosto, Stanley ...> ;Neuropathology. 2020 Feb 9
• 35 citations
  Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Biological Psychiatry. 2020 Jan 15
• VarSight: prioritizing clinically reported variants with binary classification algorithms.
  Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A, Undia...> ;BMC bioinformatics. 2019-10-15
• 7 citations
  Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.
  Jeremy D. Woods, Stephen D. Cederbaum> ;Molecular Genetics and Metabolism Reports. 2019 Sep 16
• 8 citations
  Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The A...
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2019 Sep 5
• 5 citations
  Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.
  Jeremy D. Woods, Kurlen S.E. Payton, Pedro A. Sanchez-Lara, Margaret G. Au, Charles F. Simmons, John M. Graham> ;The Journal of Pediatrics. 2019 Aug 1
• De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
  Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simo...> ;American journal of human genetics. 2019-07-18
• 47 citations
  Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2019 Jun 6
• 31 citations
  The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling
  Fabiana Csukasi, Ivan Duran, Maya Barad, Tomáš Bárta, Iva Gudernova, Lukáš Trantírek, Jorge H. Martin, Caroline Y. Kuo, Jeremy D. Woods, Hane Lee, Daniel H. Cohn, Pave...> ;Science Translational Medicine. 2018 Sep 19
• 3 citations
  Lego bricks and the octet rule: Molecular models for biochemical pathways with plastic, interlocking toy bricks
  Henry J. Lin, Jennifer Lehoang, Isabel Kwan, Anita Baghaee, Priya Prasad, Stephanie J. Ha-Chen, Tanesha Moss, Jeremy D. Woods> ;Biochemistry and Molecular Biology Education. 2018 Jan 1
• 50 citations
  Development and application of a polymicrobial, in vitro, wound biofilm model
  Jeremy D. Woods, Laura Boegli, Kelly R. Kirker, Alessandra Agostinho, A.M. Durch, E. deLancey Pulcini, Philip S. Stewart, Garth A. James> ;Journal of Applied Microbiology. 2012 May 1
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