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Ian Krantz, MD

Attending Physician

Director, Individualized Medical Genetics Center

Associate Professor, Perelman School of Medicine at the University of Pennsylvania

Original Papers

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. Am J Med Genet A. 2010 Feb;152A(2):373-82. Read abstract

Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. Am J Med Genet A. 2010 Apr;152A(4):886-95. Read abstract

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J.Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. Mol Genet Metab. 2010 Jul;100(3):296-9. Epub 2010 Apr 14. Read abstract

Wang K, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet. 2010 May 14;86(5):730-42. Epub 2010 Apr 29. Read abstract

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat. 2010 May;31(5):594-601. Read abstract

Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Li JR, Clark D, Kaur M, Tatsuro K, Kline AD, Chang C, Vega H, Jackson LG, Spinner NB, Shirahige K, Krantz ID. Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res. 2010 May 30. [Epub ahead of print].  Read abstract

Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. Am J Med Genet A. 2010 Apr;152A(4):886-95. Read abstract

 

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