MichaelLRaffMD

PubMed

• 2 citations
  An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes
  Qitao Zhan, Liya Wang, Xiangrong Xu, Yan Sun, Lejun Li, Xuchen Qi, Feng Chen, Xiaoming Wei, Michael L. Raff, Ping Yu, Fan Jin> ;Frontiers in Genetics. 2020 Mar 4
• 15 citations
  A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.
  Swati Khare, Jerelyn A. Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha J. Hathorn, Laura P.W. Ranum, Lisa A. Smithson, T...> ;Plos One. 2017 May 3
• 2 citations
  Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplant...
  Santasree Banerjee, Yunqing Ren, Tianying Wei, Zhongwei Zhou, Ping Yu, Fenghui Guan, Xiaonming Wei, Sheng Ye, Shaofeng Yan, Min Zheng, Michael L. Raff, Ming Qi> ;Experimental Dermatology. 2015 Feb 1
• 5 citations
  High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria
  Margaret L. Illson, Laura Dempsey-Nunez, Jana Kent, Qiuying Huang, Alison Brebner, Michael L. Raff, David Watkins, Brian M. Gilfix, Carl T. Wittwer, David S. Rosenblatt> ;Molecular Genetics and Metabolism. 2013 Sep 1
• Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
  Tsuchiya, K.D., Opheim, K.E., Hannibal, M.C., Hing, A.V., Glass, I.A., Raff, M.L., Norwood, T., Torchia, B.A.> ;Mol Cytogenet. 2008
• 41 citations
  Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia
  Robyn C. Reed, Linda Beischel, Jonathan Schoof, John L. Johnson, Michael L. Raff, Raj P. Kapur> ;Pediatric and Developmental Pathology. 2006 Jan 1
• 16 citations
  Spondylometaphyseal dysplasia with cone‐rod dystrophy
  Brent A. Walters, Michael L. Raff, James N. Ver Hoeve, Rachel Tesser, Leonard O. Langer, Ian A. Glass, Richard M. Pauli> ;American Journal of Medical Genetics. Part A. 2004 Sep 1
• 33 citations
  Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency
  Michael J. Bennett, Richard L. Boriack, Srinivas B. Narayan, S. Lane Rutledge, Michael L. Raff> ;Molecular Genetics and Metabolism. 2004 May 1
• 49 citations
  Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
  Frank J. Kaiser, Paola Brega, Michael L. Raff, Peter H. Byers, Sabina Gallati, Teresa Kay, Salomé de Almeida, Bernhard Horsthemke, Hermann-Josef Lüdecke> ;European Journal of Human Genetics. 2004 Feb 1
• 16 citations
  Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements.
  Vivienne Souter, Ian A. Glass, D. B. Chapman, Michael L. Raff, Melissa A. Parisi, Kent E. Opheim, C. M. Disteche> ;Ultrasound in Obstetrics & Gynecology. 2003 Jun 1
• 22 citations
  Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
  Michael L. Raff, W.J. Craigen, Lynne T. Smith, Douglas R. Keene, Peter H. Byers> ;Human Genetics. 2000 Jan 1
• Joint hypermobility syndromes.
  Raff, M. L., Byers, P. H.> ;Curr Opin Rheumatol. 1996 Sep
• Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.
  Raff, M. L., Leppig, K. A., Rutledge, J. C., Weinberger, E., Pagon, R. A.> ;Clin Dysmorphol. 1998 Jan
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