Connection

LAURIE ROBAK to Humans

This is a "connection" page, showing publications LAURIE ROBAK has written about Humans.
Connection Strength

0.128
  1. Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain. 2017 12 01; 140(12):3191-3203.
    View in: PubMed
    Score: 0.016
  2. Molecular basis of the interactions of the Nogo-66 receptor and its homolog NgR2 with myelin-associated glycoprotein: development of NgROMNI-Fc, a novel antagonist of CNS myelin inhibition. J Neurosci. 2009 May 06; 29(18):5768-83.
    View in: PubMed
    Score: 0.009
  3. Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell Rep. 2025 Mar 25; 44(3):115355.
    View in: PubMed
    Score: 0.007
  4. MGA-related syndrome: A proposed novel disorder. HGG Adv. 2025 Jan 09; 6(1):100387.
    View in: PubMed
    Score: 0.006
  5. Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk. Nat Aging. 2025 Feb; 5(2):205-218.
    View in: PubMed
    Score: 0.006
  6. Brain malformations and seizures by impaired chaperonin function of TRiC. Science. 2024 11; 386(6721):516-525.
    View in: PubMed
    Score: 0.006
  7. RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model. J Genet Genomics. 2024 Dec; 51(12):1389-1403.
    View in: PubMed
    Score: 0.006
  8. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
    View in: PubMed
    Score: 0.006
  9. Genetics and Pathogenesis of Parkinson's Syndrome. Annu Rev Pathol. 2023 01 24; 18:95-121.
    View in: PubMed
    Score: 0.006
  10. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288.
    View in: PubMed
    Score: 0.005
  11. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
    View in: PubMed
    Score: 0.005
  12. The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Hum Mutat. 2020 10; 41(10):1738-1744.
    View in: PubMed
    Score: 0.005
  13. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
    View in: PubMed
    Score: 0.005
  14. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
    View in: PubMed
    Score: 0.004
  15. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
    View in: PubMed
    Score: 0.004
  16. The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28.
    View in: PubMed
    Score: 0.004
  17. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
    View in: PubMed
    Score: 0.004
  18. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.
    View in: PubMed
    Score: 0.004
  19. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiol Aging. 2017 09; 57:247.e9-247.e13.
    View in: PubMed
    Score: 0.004
  20. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104.
    View in: PubMed
    Score: 0.004
  21. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
    View in: PubMed
    Score: 0.004
  22. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
    View in: PubMed
    Score: 0.003
  23. Synaptic function for the Nogo-66 receptor NgR1: regulation of dendritic spine morphology and activity-dependent synaptic strength. J Neurosci. 2008 Mar 12; 28(11):2753-65.
    View in: PubMed
    Score: 0.002
  24. Mechanisms of CNS myelin inhibition: evidence for distinct and neuronal cell type specific receptor systems. Restor Neurol Neurosci. 2008; 26(2-3):97-115.
    View in: PubMed
    Score: 0.002
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.