My research lab is focused on elucidating the molecular etiologies of syndromic and non-syndromic human developmental disorders and birth defects. Towards this end we have major projects focused on: 1) understanding the genome-wide implications of alterations in the cohesin complex and its regulation in causing the phenotypic differences seen in Cornelia de Lange Syndrome (CdLS), 2) Characterizing the effects on genome-wide expression in the Pallister-Killian Syndrome (PKS) and defining a minimal critical region on chromosome 12p, 3) Identification of novel genes for non-syndromic sensorineural hearing loss through standard positional cloning, genome-wide copy number variation (CNV) analysis and association studies and 4) Identifying conserved non-coding element disruptions as a cause of isolated non-syndromic congenital heart defects.
In addition we are studying the issues centered around the introduction of exome and genome sequencing into pediatric practice and how to establish best practice guidlines.
As a pediatrician and clinical geneticist, my clinical interests are mainly focused on dysmorphology and pediatric genetic disorders. While I see children with any findings suggestive of an underlying genetic etiology, I also have multispecialty clinics for children with several of the diagnoses that we have targeted research interest in such as Alagille syndrome, Cornelia de Lange syndrome, Pallister Killian syndrome and related diagnoses. We have been able to establish an endowed Center for Cornelia de Lange Syndrome and Related Diagnoses to better care for children with complex developmental diagnoses and to forward efforts in clinical and basic science research to expedite the development of therapeutics. I also run a dedicated genetic clinic for children with sensorineural hearing loss.
Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondo T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. : Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biology 75(5): e10000119, 2009.
Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. : SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat.(15), Epub ahead of print]. July 2009.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodrı´guez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson L, Dorsett D, Krantz ID. : Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation.
Am J Hum Genet. 80: 485-494, 2007.
Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. : Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet A. 138: 27-31, 2005.
Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li H, Devoto M, Jackson LG, Krantz ID.: NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations.
Am J Hum Genet 75: 610-623, 2004.
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis, LA< Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJM, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li H, Devoto M, Jackson LG: Cornelia de Lange Syndrome is caused by Mutations in NIPBL the human homolog of the Drosphila Nipped-B gene. Nat Genet 36: 631-635, 2004.
Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams
MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.: Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Am J Med Genet A. 134: 3-11, 2005.
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Russell K, Kaur M, Rossi E, Tenconi R, Nordenskjold M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OWJ, Flint J, Irons M, Giampietro PF, Scholwalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID: Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome. Am. J. Med. Genet. Page: In press, 2004.
Kamath BM, Spinner NB, Emerick KM, Booth C, Chudley AE, Bason L, Piccoli DA, Krantz ID: Vacular Anomalies and Jagged1 Mutations. Circulation 109: 1354-1358, 2004.
Liheng L, Krantz ID, Yu D, Genin A, Banta AB, Collins CC, Ming Q, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont MEM, Rand EB, Piccoli DA, Hood L, Spinner NB: Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 16: 243-250, 1997.
Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB: Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am. J. Med. Genet. 84: 56-60, 1999.
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Last updated: 08/26/2013
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