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Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.
Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB, Heinzen EL. Griffin NG, et al. Among authors: rehder cw. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001735. doi: 10.1101/mcs.a001735. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28864461 Free PMC article.
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance Committee. Gonzales PR, et al. Among authors: rehder cw. Genet Med. 2022 Feb;24(2):255-261. doi: 10.1016/j.gim.2021.10.004. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906464 Free article.
Identification of EPCAM mutation: clinical use of microarray.
Tan QK, Cardona DM, Rehder CW, McDonald MT. Tan QK, et al. Among authors: rehder cw. Clin Case Rep. 2017 May 10;5(6):980-985. doi: 10.1002/ccr3.914. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588851 Free PMC article.
78 results