Krawitz, Peter Michael

Top Publications

Top Publications Authored or Co-Authored by "Krawitz, Peter Michael"

• Mutations in WNT1 cause different forms of bone fragility

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 245
• Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

  American Journal of Human Genetics, Volume 91, No. 4, Year 2012, Citations 111
• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

  Nature Genetics, Volume 54, No. 3, Year 2022, Citations 69
• Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

  American Journal of Human Genetics, Volume 105, No. 2, Year 2019, Citations 45
• Genome sequencing in families with congenital limb malformations

  Human Genetics, Volume 140, No. 8, Year 2021, Citations 32