DONALD PARSONS to Phenotype
This is a "connection" page, showing publications DONALD PARSONS has written about Phenotype.
Connection Strength
0.161
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Applications of Genomic Sequencing in Pediatric CNS Tumors. Oncology (Williston Park). 2016 May; 30(5):411-23.
Score: 0.066
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Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. Cold Spring Harb Mol Case Stud. 2019 10; 5(5).
Score: 0.021
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Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet. 1998 Dec; 63(6):1712-23.
Score: 0.020
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The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet. 2018 09 06; 103(3):319-327.
Score: 0.019
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515.
Score: 0.018
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An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet. 1996 Nov; 5(11):1727-32.
Score: 0.017