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This is a "connection" page, showing publications co-authored by Susan Blaser and Christian Marshall.

Connection Strength
  1. Walker S, Lamoureux S, Khan T, Joynt ACM, Bradley M, Branson HM, Carter MT, Hayeems RZ, Jagiello L, Marshall CR, Meyn MS, Miller SP, Wilson D, Scherer SW, Blaser S, Mireskandari K, Costain G. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. Am J Med Genet A. 2021 10; 185(10):3129-3135.
    View in: PubMed
    Score: 0.061
  2. Lee W, Costain G, Blaser S, Walker S, Marshall CR, Gonorazky H, Inbar-Feigenberg M. Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review. Mol Genet Metab Rep. 2020 Dec; 25:100664.
    View in: PubMed
    Score: 0.058
  3. Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. Hum Mol Genet. 2019 01 15; 28(2):290-306.
    View in: PubMed
    Score: 0.052
  4. Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. Genet Med. 2019 04; 21(4):1021-1026.
    View in: PubMed
    Score: 0.051
  5. Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. . 2017 Oct; 173(10):2725-2730.
    View in: PubMed
    Score: 0.047
  6. O'Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet. 2017 06; 25(6):775-778.
    View in: PubMed
    Score: 0.046
  7. Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun; 138(Pt 6):1505-17.
    View in: PubMed
    Score: 0.040
  8. Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. Eur J Hum Genet. 2015 Mar; 23(3):310-6.
    View in: PubMed
    Score: 0.038
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.