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Connection

Gerald Schaefer to Humans

This is a "connection" page, showing publications Gerald Schaefer has written about Humans.

 
Connection Strength
 
 
 
0.199
 
  1. Walters WD, Garnica AD, Schaefer GB. McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders. Semin Pediatr Neurol. 2018 07; 26:50-51.
    View in: PubMed
    Score: 0.024
  2. Schaefer GB. Clinical Genetic Aspects of ASD Spectrum Disorders. Int J Mol Sci. 2016 Jan 29; 17(2).
    View in: PubMed
    Score: 0.022
  3. Schaefer GB, Larson IA, Bolick J, Williamson-Dean L. What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative. Genet Med. 2016 05; 18(5):440-2.
    View in: PubMed
    Score: 0.022
  4. Schaefer GB. Editorial comment: An unusual cause of peroneal neuropathy. Semin Pediatr Neurol. 2014 Jun; 21(2):82-3.
    View in: PubMed
    Score: 0.020
  5. Schaefer GB. Editorial comment: Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. Semin Pediatr Neurol. 2014 Jun; 21(2):172.
    View in: PubMed
    Score: 0.020
  6. Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB. A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. Semin Pediatr Neurol. 2014 Jun; 21(2):84-7.
    View in: PubMed
    Score: 0.020
  7. Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013 May; 15(5):399-407.
    View in: PubMed
    Score: 0.018
  8. Schaefer GB, Starr L, Pickering D, Skar G, Dehaai K, Sanger WG. Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. J Child Neurol. 2010 Dec; 25(12):1498-503.
    View in: PubMed
    Score: 0.015
  9. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
    View in: PubMed
    Score: 0.010
  10. Kilgore DA, Kilgore TA, Sukpraprut-Braaten S, Schaefer GB, Uwaydat SH. Multimodal imaging of an RPGR carrier female. Ophthalmic Genet. 2021 06; 42(3):312-316.
    View in: PubMed
    Score: 0.008
  11. Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Am J Med Genet A. 2019 06; 179(6):1047-1052.
    View in: PubMed
    Score: 0.007
  12. Nembhard WN, Tang X, Li J, MacLeod SL, Levy J, Schaefer GB, Hobbs CA. A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects. Am J Med Genet A. 2018 03; 176(3):609-617.
    View in: PubMed
    Score: 0.006
  13. Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382.
    View in: PubMed
    Score: 0.006
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.