RachelK(Kaufman)HachenMD

PubMed

• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 20 citations
  Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
• Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlat...
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
• 27 citations
  Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, o...
  Douglas R. Stewart, Hilde Brems, Alicia G. Gomes, Sarah L. Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes, Michael B. Bober, Rachel Hachen, Leonard B. Kaban, ...> ;Genetics in Medicine. 2014 Jun 1
• 126 citations
  Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
  Ludwine Messiaen, S. Yao, Hilde Brems, Tom Callens, Achara Sathienkijkanchai, Ellen Denayer, Emily Spencer, Pamela Arn, Dusica Babovic-Vuksanovic, Carolyn Bay, Gary Bo...> ;JAMA. 2009 Nov 18
• 235 citations
  An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1...
  Meena Upadhyaya, Susan M Huson, M. Davies, Nicholas Stuart Tudor Thomas, Nadia Chuzhanova, S. Giovannini, D G R Evans, E. Howard, Bronwyn Kerr, Sian Wyn Griffiths, Cla...> ;American Journal of Human Genetics. 2007 Jan 1
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