Ian Krantz, MD

Ian Krantz, MD

Ian Krantz, MD is an attending physician in the Division of Genetics at Children's Hospital of Philadelphia, Director of the Individualized Medical Genetics Center, Director of the Center for Cornelia de Lange Syndrome and Related Diagnoses and the Genetics Residency/Fellowship Director. He holds a Distinguished Chair in the Department of Pediatrics.

Areas of Expertise: Alagille syndrome, Clinical Genetics and Dysmorphology, Cornelia de Lange syndrome, The Genetics of Hearing Loss
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - University of Tel Aviv, Sackler School of Medicine, Tel Aviv, Israel

Residency

Pediatrics - New York University, New York, NY

Fellowship

Clinical Fellow in the Division of Human Genetics and Molecular Biology and Division of Biochemical Genetic - The Children's Hospital of Philadelphia, Philadelphia, PA
Research Fellow in the laboratory of Nancy Spinner, Ph.D., Division of Human Genetics - The Children's Hospital of Philadelphia, Philadelphia, PA

Board Certification

Medical Genetics
Clinical Cytogenetics
Clinical Genetics
Pediatrics

Titles and Academic Titles

Attending Physician

Director, Individualized Medical Genetics Center

Director, The Center for Cornelia de Lange Syndrome and Related Diagnoses

Genetics Residency/Fellowship Director

Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Professor of Genetics, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Research Interests

The molecular etiology of structural birth defects
The molecular etiology of hearing loss
Cornelia de Lange Syndrome
Alagille Syndrome

Publications

Papers

2017

Schwartz E, Wilkens A, Noon SE, Krantz ID, Wu Y.: A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. Am J Med Genet A. 173(3): 809-812, Mar 2017.

Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE.: Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. Am J Med Genet A.  Feb 12 2017 Notes: doi: 10.1002/ajmg.a.38161. [Epub ahead of print]

2016

Zhao J, Noon SE, Krantz ID, Wu Y. : A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss. Am J Med Genet C Semin Med Genet 172: 102-108, 2016.

Ramos M, Wilkens A, Krantz ID, Wu Y.: Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.  Am J Med Genet C Semin Med Genet 172: 109-116, 2016.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M,Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK.: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.  Genet Med.  18(4): 309-315, 2016.

Mehta D, Vergano SA, Deardorff M, Aggarwal S, Barot A, Johnson DM, Miller NF, Noon SE,Kaur M, Jackson L, Krantz ID.: Characterization of limb differences in children with Cornelia de Lange Syndrome.  Am J Med Genet C Semin Med Genet 172: 155-162, 2016.

Kaur M, Mehta D, Noon SE, Deardorff MA, Zhang Z, Krantz ID: NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.  Am J Med Genet C Semin Med Genet, 172: 163-170, 2016.

Katz OL, Krantz ID, Noon SE: Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features. A Am J Med Genet C Semin Med Genet 172: 92-101, 2016.

January K, Conway LJ, Deardorff M, Harrington A, Krantz ID, Loomes K, Pipan M, Noon SE.: Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.  Am J Med Genet C Semin Med Genet,  172: 237-245, 2016.

Cacioppo CN, Conway LJ, Mehta D, Krantz ID, Noon SE: Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.  Am J Med Genet C Semin Med Genet, 172: 229-236, 2016.

Basel-Vanagaite L, Wolf L, Orin M, Larizza L, Gervasini C, Krantz ID, Deardoff MA.: Recognition of the Cornelia de Lange Syndrome Phenotype with Facial Dysmorphology Novel Analysis.   Clin Genet.  89(5): 557-563, 2016.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.: Recommendations for the integration of genomics into clinical practice. Genet Med.  18(11): 1075-1084, Nov 2016.

Mehta D, Noon SE, Schwartz E, Wilkens A, Bedoukian EC, Scarano I, Crenshaw EB 3rd, Krantz ID.: Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic. Am J Med Genet A.  170(10): 2523-2530, Oct 2016.

Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, Reis A, Santani A, Sticht H, Abou Jamra R.: SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Orphanet J Rare Dis.  11(1): 130, Sept 29 2016.

Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA,Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium.: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet 99(1): 1051-1066, Jul 7 2016.

Bagattoni S, D'Alessandro G, Sadotti A, Alkhamis N, Rocca A, Cocchi G, Krantz ID, Piana G.: Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.  Am J Med Genet A. Jun 29. d June 2016 Notes: doi: 10.1002/ajmg.a.37815. [Epub ahead of print]

Yuen KC, Xu B, Krantz ID, Gerton JL: NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.   Cell Rep.  14(1): 93-102, Jan 5 2016.

Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K.: Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. Mol Genet Genomic Med.  20(4): 257-266, Jan 2016.

2015

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M,Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. : Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.  Genet Med.  18(4): 209-315, 2015.

Mannini L, Cucco F, Quarantotti V, Amato C, Tinti M, Tana L, Frattini A, Delia D, Krantz ID,Jessberger R, Musio A: SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.  Sci Rep. 5: 18472, 2015.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP,Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID.: Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.  Nat Genet 47: 338-344, 2015.

Izumi K, Kellogg E, Fujiki K, Kaur M, Tilton RK, Noon S, Wilkens A, Shirahige K, Krantz ID.: Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype. A. Am J Med Genet A. (167), 1268-1274, 2015.

Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, LeCaignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR. : USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. Mol Cell.  59: 956-969, 2015.

Grochowski CM, Rajagopalan R, Falsey AM, Loomes KM, Piccoli DA, Krantz ID, Devoto M,Spinner NB: Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.  Am J Med Genet A 167: 891-893, 2015.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, OusagerLB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.: De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes.  Hum Mutat 36: 454-462, 2015.

Wu Y, Gause M, Xu D, Misulovin Z, Schaaf CA, Mosarla RC, Mannino E, Shannon M, Jones E,Shi M, Chen WF, Katz OL, Sehgal A, Jongens TA, Krantz ID, Dorsett D. : Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.  PLoS Genet.  11(11): e1005655, Nov 6 2015.

Mannini L, C Lamaze F, Cucco F, Amato C, Quarantotti V, Rizzo IM, Krantz ID, Bilodeau S,Musio A. : Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.  Sci Rep.  5: 26803, Nov 19 2015.

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D,Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL.: Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.  Hum Genomics.  9(1): 15, Jul 19 2015.

Tsai EA, Grochowski CM, Falsey AM, Rajagopalan R, Wendel D, Devoto M, Krantz ID, LoomesKM, Spinner NB.: Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia. Hum Mutat  36(6): 631-637, Jun 2015.

2014

Tilton RK, Wilkens A, Krantz ID, Izumi K. : Cardiac manifestations of Pallister-Killian syndrome. Am J Med Genet A.  164A: 1130-1135, 2014.

Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA,Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. : Clinical utility gene card for: Cornelia de Lange syndrome. Eur J Hum Genet. [Epub ahead of print] 2014.

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW,Robinson PN, White PS.: Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.  BMC Bioinformatics 15: 248, 2014.

Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, Gauze M, Carrico CS,Woodman J, Gerton JL, Vega H, Levin AV, Shirahige K, Champion M, Goodban MT, O'Connor JT, Pipan M, Horsfield J, Deardorff MA, Ishman SL, Dorsett D: Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.  Am J Med Genet A.  164: 1384-1393, 2014.

Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID.: Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.  PLoS One 16(9(10)): e108853, 2014.

Kaiser FJ, Ansari M, Braunholz D, Gil-Rodríguez MC, Decroos C, Wilde JJ, Fincher CT, KaurM, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.: Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance.  Hum Mol Genet. 2014 [Epub ahead of print] 2014.

Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP,Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; : eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group (Krantz, ID), Burke W.  Return of genomic results to research participants: the floor, the ceiling, and the choices in between.  Am J Hum Genet.  94: 818-826, 2014.

Izumi K, Zhang Z, Kaur M, Krantz ID.: 12p microRNA expression in fibroblast cell lines from  probands with Pallister-Killian syndrome. Chromosome Res. 22: 453-461, 2014.

Izumi K, Noon S, Wilkens A, Krantz ID. : NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.  Eur J Med Genet.  57: 558-561, 2014.

Zuin J, Franke V, van Ijcken WF, van der Sloot A, Krantz ID, van der Reijden MI, Nakato R,Lenhard B, Wendt KS.: A Cohesin-Independent Role for NIPBL at Promoters Provides Insights in CdLS.  PLoS Genet  10(2): e1004153, Feb 2014.

2013

Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID.: PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.  Am J Med Genet A.  161: 2134-47, 2013.

Slavin TP, Krantz I: Response to "germline mosaicism in Cornelia de Lange syndrome: dilemmasand risk figures" by Mariani et al.  Am J Med Genet A.  161A: 1827, 2013.

Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A.: Mutation spectrum and genotypephenotype correlation in Cornelia de Lange syndrome.  Hum Mutat.  34: 1589-1596, 2013.

Izumi K, Wilkens A, Treat JR, Pride HB, Krantz ID.: Novel MBTPS2 Missense Mutation in the N Terminus Transmembrane Domain in a Patient withIchthyosis Follicularis, Alopecia, and Photophobia Syndrome. Pediatr Dermatol. 2013 [Epub ahead of print] Pediatr Dermatol.  [Epub ahead of print] 2013.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.: Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.  Am J Hum Genet 93: 915-925, 2013.

Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID. : Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations. Am J Med Genet A.  161: 2148-57, 2013.

Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID.: Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. Am J Otolaryngol 34: 230-235, 2013.

Degenhardt K, Singh MK, Aghajanian H, Massera D, Wang Q, Li J, Li L, Choi C, Yzaguirre AD, Francey LJ, Gallant E, Krantz ID, Gruber PJ, Epstein JA.: Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections. Nature Medicine 19: 760-765, 2013.

Jyonouchi S, Orange J, Sullivan KE, Krantz I, Deardorff M.: Immunologic features of cornelia de lange syndrome.   Pediatrics  132: e484-9, 2013.

2012

Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID.: Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases.  Am J Med Genet A.  158A: 3002-3017, 2012.

Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA,Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID: Clinical Report: Germline mosaicism in Cornelia de Lange syndrome. Am J Med Genet A 158A: 1481-1485, 2012.

Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, KrantzID, Deardorff MA, Lupski JR.: NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.  Genet Med.  14: 313-322, 2012.

Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M.: Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet A 158A: 1841-1847, 2012.

Lin HC, Le Hoang P, Hutchinson A, Chao G, Gerfen J, Loomes KM, Krantz I, Kamath BM,Spinner N: Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. Am J Med Genet A 158A: 1005-1013, 2012.

Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. : Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.  Am J Med Genet A.  158A: 3018-3025, 2012.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, ZackaiEH, Spinner NB, Krantz ID.: Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A.  158A: 3033-3045, 2012.

Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR,Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ: Exploring concordance and discordance for return of incidental findings from clinical sequencing.  Genet Med 14: 405-410, 2012.

Gimigliano A, Mannini L, Bianchi L, Puglia M, Deardorff MA, Menga S, Krantz ID, Musio A,Bini L: Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells with Distinct Mutations in SMC1A and SMC3 Genes. J Proteome Res.  11: 6111-6123, 2012.

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, HakonarsonH, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID.: Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.  Am J Med Genet A. 158A: 298-308, 2012.

Descipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S,Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz I: Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. Am J Med Genet A 2012.

Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, YanY, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ: RAD21 Mutations Cause a Human Cohesinopathy. Am J Hum Genet 90: 1014-1027, 2012.

Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH,Pallister P, Hakonarson H, Spinner NB, Krantz ID.: Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.   Am J Med Genet A.  158A: 3046-3053, 2012.

Clark DM, Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, KrantzID.: Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies. Am J Med Genet A 158A: 1848-1856, 2012.

Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS,Goldmuntz E, Krantz ID.: Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.  Am J Med Genet A.  158A: 2489-2505, 2012.

Candee MS, Carey JC, Krantz ID, Filloux FM.: Seizure characteristics in Pallister-Killian syndrome.  Am J Med Genet A.  158A: 3026-3032, 2012.

Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, AlbrechtM, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ.: Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.  Eur J Hum Genet.  20(3): 271-276, 2012.

Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, KatouY, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige : HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature epub ahead of print, August 2012.

Clark DM, Ilana Sherer I, eardorff MA, Byrne JLB, Loomes KM Nowaczyk MJM, Jackson LG, Krantz ID: Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies. Am J Med Genet A.  158(8): 1848-1856, Aug 2012.

Filloux FM, Carey JC, Krantz ID, Ekstrand JJ, Candee MS.: Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.  Eur J Med Genet.  55(5): 367-373, May 18 2012.

Zhang Z, Liu J, Kaur M, Krantz ID. : Characterization of DNA methylation and its' association with other biological systems in lymphoblastoid cell lines.  Genomics   99(4): 209-219, Apr 2012.

Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W,Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB.: NOTCH2 mutations in Alagille syndrome.  J Med Genet.  49(2): 138-144, Feb 2012.

2011

Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L,Loomes K, Krantz ID, Jackson LG.: Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.  Am J Med Genet A.  155(12): 2007-2024, Dec 2011.

Lambert MP,  Jackson LG, Clark D,  Kaur M, rantz ID,  Deardorff MA: The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome  Am J Med Genet A.  155A(1): 33-37, Jan 2011.

Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA,Spinner NB, Loomes KM, Meyers K.: Renal anomalies in Alagille syndrome: A disease-defining feature.  Am J Med Genet A. (1), 85-89, Jan 2011.

2010

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.  86: 730-742, 2010.

Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff, MA.: Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.  Am J Med Genet A.  152A: 1641-1653, 2010.

Norcini JJ, Boulet JR, Dauphinee WD, Opalek A, Krantz ID, Anderson ST. : Evaluating the quality of care provided by graduates of international medical schools.  Health Aff (Millwood) 29: 1461-1468, 2010.

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.  Nuc Acid Res  38: 5657-71, 2010.

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 Suggests Region of Potential Disease Susceptibility in 2q37.3.   American Journal of Medical Genetics Page: in press, 2010.

Lambert MP, Jackson LG, Clark D, Kaur M, Krantz ID, Deardorff MA: The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.  Am J Med Genet A.  155A: 33-37, 2010.

Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB.: Rare variants create synthetic genome-wide associations.  PLoS Biol  8: e1000294, 2010.

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID.: Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20" Am J Med Genet A.  152A: 1599, 2010.

Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst L, Zackai E, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB.: Mechanisms of mosaicism, chimerism, and uniparental disomy identified by SNP array analysis. Hum Mol Genet Page: In Press. 2010.

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.  31: 594-601, 2010.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. : Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.  Am J Hum Genet.  86(5): 749-764, May 14 2010.

Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA,Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. : Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A  152A(4): 924-929, Apr 2010.

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  152A(2): 373-382, Feb 2010.

2009

Zhang B, Chang J, Fu M, Huang J, Kashyap R, Salavaggione E, Jain S, Shashikant K,Deardorff MA, Uzielli ML, Dorsett D, Beebe DC, Jay PY, Heuckeroth RO, Krantz I, Milbrandt J.  : Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.   PLoS ONE 4(5): e52322009, 2009.

Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. : Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.   Hum Mol Genet.  18: 418-427, 2009.

Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Li JR, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. : Transcriptional and Epigenetic Dys-regulation in NIPBL and Cohesin Mutant Human Cells - A Comprehensive Genomic Study in Cornelia de Lange Syndrome.  Am Soc Hum Genet, Hawaii 2009.

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.

Hunter AG, Collins JS, Deardorff MA, Krantz ID. : Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.  Am J Med Genet A, 149A: 2181-2192, 2009.

Conlin LK, Kaur M, Clark D, Zackai E, Deardorff M, Hakonarson H, Spinner NB, Krantz ID. : Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from Pallister-Killian patients.  Am Soc Hum Genet, Hawaii 2009.

McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO,Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J.: Microduplications of 16p11.2 are associated with schizophrenia.  Nat Genet 41: 1223-1227, 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. 30(11): 1535-1542, Nov 2009.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID,Dobyns WB, Millen KJ.  : FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet 41(9): 1037-1042, Sep 2009.

Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. : SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.  Hum Mutat   30(3): 371-378, Mar 2009.

2008

Rasmussen KJ, Zador I, Zabel C, Krantz ID, Giampietro PF. : Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism. 146:, 2008. Am J Med Genet A.  146: 261-263, 2008.

Rasmussen KJ, Zador I, Zabel C, Krantz ID, Giampietro PF.: Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism.  Am J Med Genet A. 146: 261-263, 2008.

Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger Synodinos J.: Mutations in the chromatin-associated protein ATRX. Hum Mutat.  29: 796-802, 2008.

DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. : Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.  Am J Med Genet A  146: 739-739, 2008.

2007

Steinberg AG, Kaimal G, Bain L, Krantz I, Li Y.: Parental narratives on genetic testing for children with hearing loss: A qualitative inquiry.  Am J Med Genet A.  16: 57-67, 2007.

Steinberg AG, Kaimal G, Bain L, Krantz I, Li Y.: Parental narratives on genetic testing for children with hearing loss: A qualitative inquiry. Am J Med Genet A.  16: 57-67, 2007.

Steinberg A, Kaimal G, Ewing R, Soslow LP, Lewis KM, Krantz I, Li Y.: Parental narratives of genetic testing for hearing loss: audiologic implications for clinical work with children and families.  Am J Audiol. 16: 57-67, 2007.

Li Y, Steinberg AG, Bain L, Yaeger D, Bieler A, Ewing R, Kaimal G, Krantz I.: Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation.  Am J Med Genet A.  143: 1546-1553, 2007.

Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, Fitzpatrick DR, Levin AV, Selicorni A.: Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance.  Am J Med Genet A.  143: 1282-1296, 2007.

Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D. : Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet.  145C: 248-260, 2007.

Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D.: Natural history of aging in Cornelia de Lange syndrome.   Am J Med Genet C Semin Med Genet.  145: 248-260, 2007.

Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D.: Natural history of aging in Cornelia de Lange syndrome.   Am J Med Genet C Semin Med Genet.  145: 248-260, 2007.

Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID.: Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: Who should be offered GJB2 testing?  Am J Med Genet A.   143: 1560-1566, 2007.

Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID: Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: Who should be offered GJB2 testing?  Am J Med Genet A.  143: 1560-1566, 2007.

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.

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.

2006

Yaeger D, McCallum J, Lewis K, Soslow L, Shah U, Potsic W, Stolle C, Krantz ID.: Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic. Am J Med Genet A.  140: 827-36, 2006.

Warthen D, Moore E, Kanmath B, Morrissette J, Sanchez P, Piccoli D, Krantz I, Spinner NB.: Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.  Hum Mutat.  27: 436-443, 2006.

Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, Jackson LG,  Krantz ID, Young TL.  : Ophthalmologic findings in cornelia de lange syndrome: a genotype-phenotype correlation study.  Arch Ophthalmol.  124: 552-7, 2006.

McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB.: NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 79: 169-73, 2006.

2005

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kaariainen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mucke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.: Clinical and mutational spectrum of Mowat-Wilson syndrome.  Eur J Med Genet. 48: 97-111, 2005.

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.

Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA. : Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr.  41: 99-107, 2005.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, WilliamsMS, 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.

DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID: Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.  Am J Med Genet A.  137: 276-82, 2005.

2004

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.

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(4): 610-623, Oct 2004.

Gillis LA, DeScipio C, McCallum J, Kaur M, Yaeger D, Kline A, Devoto M, Jackson LG, Krantz ID.: NIPBL Mutational Analysis in 117 Individuals with Cornelia de Lange Syndrome: Genotype-Phenotype Correlation.  Am J Hum Genet.  75(4): 610-623, October 21 2004.

Tonkin ET, Smith M, Eichorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burns J, Krantz ID, Carr P, Strachan T.: A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.  Hum Genet. 115(2): 139-148, Jul 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(6): 631-635, Jun 2004.

2003

Kamath BM, Loomes KM, Piccoli DA, Emerick KEM, Oakey RJ, Spinner NB, Krantz ID: Reply to correspondence from Sokol. Am. J. Med. Genet. Page: Online, 2003.

Kamath BM, Krantz ID: Reply to correspondence from Kosztolanyi and Mehes "Supernumerary digital flexion creases" Am. J. Med. Genet. 121A: A:92, 2003.

Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB: Consequences of JAG1 mutations. J. Med. Genet. 40: 891-895, 2003.

2002

McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz EG: Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and and/or Alagille syndrome. Circulation 106: 2567-2574, 2002.

Laufer-Cahana A, Krantz ID, Bason LD, Lu FM, Piccoli DA, Spinner NB: Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion. Am. J. Med. Genet. 112: 190-193, 2002.

Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB: Craniosynostosis in Alagille Syndrome. Am. J. Med. Genet. 112: 176-180, 2002.

Kamath BM, Loomes KM, Oakey RJ, Krantz ID: Supernumerary digital flexion creases; an additional clinical manifestation of Alagille syndrome. Am. J. Med. Genet. 112: 171-175, 2002.

Kamath BM, Loomes KM, McBride-Emerick KE, Oakey RJ, Spinner NB, Piccoli DA, Krantz ID: Facial features in Alagille syndrome: specific or cholestasis facies? Am. J. Med. Genet. 112: 112-163, 2002.

Kamath BM, Krantz ID, Spinner NB, Heubi JE, Piccoli DA: Monozygotic twins with a severe form of Alagille syndrome and phenotype discordance. Am. J. Med. Genet. 112: 194-197, 2002.

Ferraris A, Rappaport E, Santacroce R, Pollack E, Krantz I, Toth S, Lysholm F, Margaglione M, Restagno G, Dallapiccola B, Surrey S, Fortina P: Pyrosequencing for detection of mutations in Connexin 26 and mitochondrial 12S RNA genes associated with hereditary hearing loss. Hum. Mut. 20: 312-320, 2002.

Bason L, Dudley T, Lewis K, Shah UK, Potsic W, Ferraris A, Fortina PM, Rappaport E, Krantz ID : Homozygosity for the V37I Connexin 26 mutation in 3 unrelated children with sensorineural hearing loss. Cin. Genet. 61: 459-464, 2002.

2001

Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M: Jagged1 mutation in Alagille syndrome. Hum. Mut. 17: 18-33, 2001.

Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID: Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences. Am. J. Med. Genet. 104(4): 267-276, Dec 15 2001.

Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L: Exclusion of linkage to the CDL1 Gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am. J. Med. Genet. 101: 120-129, 2001.

Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB: Mutation analysis of Jagged 1 (JAG1) in Alagille syndrome patients. Hum. Mut. 17: On-line, 2001.

2000

Lee L, Dowhanick-Morissette J, Katz A, Jukofsky L, Krantz ID: Chromosomal localization, genomic characterization, and mapping to the Noonan Syndrome critical region of the human Deltex (DTX1) gene. Gene. Hum. Genet. 107: 577-581, 2000.

Celle L, Lee L, Rintoul N, Savani RC, Long W, Mennuti MT, Krantz ID: Duplication of chromosome 4q28.3-qter in monomzygotic twins with discordant phenotypes. Am. J. Med. Genet. 94: 125-140, 2000.

1999

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.

Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA: Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29: 822-829, 1999.

1998

Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB: Spectrum and frequency of Jagged1 (JAG1mutations in Alagille syndrome patients and their families. Am. J. Hum. Genet. 62: 1361-1369, 1998.

1997

Wu GS, Burns TF, Mcdonald III ER, Jiang W, Meng R, Krantz ID, Kao G, Gan DD, Zhou JY, Muschel R, Hamilton SR, Spinner NB, Markowitz S, Wu G, El-Deiry WS: KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene. Nat. Genet. 17: 141-143, 1997.

Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB. Collind FS, Chandrasekharappa SC: Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat. Genet. 16: 235-242, 1997.

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, Rand EB, Genin A, Hunt P, Jones M, Louis AA, Graham Jr., JM, Bhatt S, Piccoli DA, Spinner NB: Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am. J. Med. Genet. 70: 80-86, 1997.

Krantz ID, Piccoli DA, Spinner NB: Alagille syndrome. J Med Genet.  34(2): 152-157, Feb 1997.

1996

Mehta KC, Zsolway K, Osterhoudt KC, Krantz I, Henretig FM, Kaplan P: Lessons from the late diagnosis of isovaleric acidemia in a five-year old boy. J. Pediatr. 129: 309-310, 1996.

Abstracts

2016

Vetter VL, Dugan N, Biswas S, Li M, Dulik M, JayaramanV, Conlin L, Devkota B, Romasko E, Abrudan J, Spinner NB, Krantz ID: .Exome Sequencing for Genetic Etiology in Families with Sudden Cardiac Death or Arrest. American Heart Association, New Orleans, LA 2016.

Romasko EJ, Devkota B, Jayaraman V,  Jairam S, Biswas S, Scarano MI, Thom CS, Dulik MC, Conlin LK, Spinner NB, Krantz ID, Lambert MP.  : Utility and Limitations of Exome Sequencing in the Diagnosis of Pediatric Platelet Disease.  American College of Medical Genetics National Meeting, Tampa, FL 2016.

Noon SE, Wilkens A, Bedoukian E, Tarpinian J, Biswas S, Krantz ID. : Genetic Counseling of Hearing Loss: Where we've been and where we're going.  National Society of Genetic Counselors, Seattle, WA 2016.

Mehta D, Noon S, Schrier S, Deardorff M, Krantz ID.: Characterization of Limb Differences in Children with Cornelia de Lange Syndrome. C. dLS National Conference and Scientific Symposium, Orlando, FL 2016.

Kosuke Izumi K, Sarah Noon S, Maninder Kaur M, Deardorff M, Shirahige K, Krantz I. : Transcriptomopathies - A Growing Group of Transcriptional Regulatory Disorders with Phenotypic Overlap with Cornelia de Lange Syndrome.   7th Biennial CdLS National Conference and Scientific Symposium, Orlando, FL 2016.

Kaur M, Noon S, Rajagopolan R, Krantz, I. : High Senstivity Sequencing in CdLS- HaloplexHs. C. dLS National Conference and Scientific Symposium, Orlando, FL 2016.

Katz O, Mannino E, Krantz I, Wu Y.  : Heterozygous Drosophila Models of Cornelia de Lange Syndrome.  CdLS National Conference and Scientific Symposium, Orlando, FL 2016.

Izumi K, Kaur M, Salzano E, McEldrew D, Conlin L, Zhang Z, Wilkens A, Noon S, Krantz I. : Somatic Mosaicism and Phenotypic Outcomes - Pallister-Killian Syndrome as a Model for a Potential Paradigm Shift in our Understanding of Chromosomal Disorders and Beyond.  David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, CA  2016.

Haaland  RE, Kline AD, Lander A, Calof A, Dorsett D, Grados M, Deradorff M, Pipan M, Rosser T, Summa D, Krantz I. : Facing the Challenges of Treating Cornelia de Lange Syndrome.  CdLS National Conference and Scientific Symposium, Orlando, FL 2016.

Biswas S, Devkota B, Helb I, Scarano I, Li M, Slack I, Jayaraman V, Dulik MC, Conlin LC, Romasko E, Jairam S, Spinner NB, Krantz ID: Comparison of computational and clinician-based phenotype correlation of singleton exome cases in neurodevelopmental disorders American College of Medical Genetics National Meeting, Tampa, FL 2016.

2015

Slack IF, Abrudan J, Dulik MC, Biswas S, Li MH, Conlin L, Spinner N, Krantz ID. : From PediSeq to PediSeekers: A Crowdsourcing Approach to Variant Interpretation.  American College of Medical Genetics National Meeting, Salt Lake City, Utah 2015.

Pechter KB, Yu Z, Denenberg B, Nesbitt AI, Baker SW, Dechene E, Bedoukian E, Wilkens A, Medne L, Harr M, Deardorff M, Krantz I, Zackai E, Santani A.: When answers lead to more questions with exome sequencing.  American Society of Human Genetics National Meeting , Baltimore, MD 2015.

Noon SE, January K, Loomes L, Harrington A, Deardorff M, Pipan M, Krantz ID.  : Benefits and Limitations of a Multidisciplinary Clinic Approach to Individualized Management of Cornelia de Lange Syndrome and Related Diagnoses: The Parents' Perspective.  American College of Medical Genetics National Meeting, Salt Lake City, Utah 2015.

Nesbitt AI, Denenberg B, Yu Z, Baker SW, Pechter KB, Dechene E, Dubbs H, Bedoukian E, Wilkens A, Medne L, Ortiz-Gonzale X, Zackai E, Krantz I, Deardorff M, Santani A.  : The hunt for rare disease diagnosis: utilization of social media, model organisms, and pathway analysis in pediatric exome sequencing .  American Society of Human Genetics National Meeting , Baltimore, MD  2015.

Li MH, Biswas S, Wilkens A, Slack I, Abrudan JL, Dulik MC, Spinner NB, Krantz ID.  : Phenotype Capture and Utilization of a Common Electronic Health Record System to Evaluate Pediatric Individuals with Intellectual Disability Undergoing Exome Sequencing.   American College of Medical Genetics National Meeting, Salt Lake City, Utah 2015.

Leduc M, Xia F, Walkiewicz M, Beuten J, Wang J, Pan S, Schaff C, Scaglia F, Basinger A, Bernstein J, Krantz I, Eng C, Yang Y. : Clinical exome sequencing reveals previously unreported de novo pathogenic variants in the HNRNPU gene in six patients with seizure disorders.  American College of Medical Genetics National Meeting, Salt Lake City, Utah 2015.

Krantz I, Noon S, Edmondson A, Kaur M, Zackai E, Zhang Z, Shirahige K, Izumi I.  : CHOPS syndrome: A Novel Genetic Disorder of Cognitive Impairment, Heart Defects, Obesity, Pulmonary Involvement and Short Stature with Skeletal Dysplasia.   David W. Smith Workshop on Malformations and Morphogenesis, St. Michaels, MD 2015.

Jayaraman V, Li M, Slack I, Abrudan JL, Sasson A, Dulik MC, Biswas S, DeChene ET, Luo M, Scarano I, Tilton R, Noon SE, Wilkens AB, Conlin LK, Spinner NB, Krantz ID.: Utility and limitations of exome sequencing as diagnostic tool for bilateral sensorineural hearing loss.   American Society of Human Genetics National Meeting , Baltimore, MD  2015.

Dulik MC, Conlin LK, Biswas S, Abrudan JL, Krantz ID, Spinner NB. : Impact and implementation of benchmarking frequency thresholds for variant filtering in clinical diagnostics.   American Society of Human Genetics National Meeting , Baltimore, MD  2015.

Bedoukian E, Medne L, Wilkens A, Deardorff M, Krantz I. : The Individualized Medical Genetics Center: Facilitating Systematic Integration of Genetic Testing into Patient Care.  American College of Medical Genetics National Meeting, Salt Lake City, Utah 2015.

Abrudan JL, Dulik MC, Biswas S, Li MH, Conlin L, Slack IF, Spinner N, Krantz ID. : PediSeq-X-Pedi Database: a Framework for a Team Approach to Variant Analysis.  American College of Medical Genetics National Meeting, Salt Lake City, Utah 2015.

Books

2012

Krantz ID, Senior Editor: Epstein's Inborn Errors of Development. The Molecular Basis of Clinical Disorders of Morphogenesis, Eds Wynshaw-Boris,T and Erickson RP (eds.). 3rd Edition, Oxford University Press.  2012.

Krantz ID and Spinner NB: Cytogenomic Syndromes. Cytogenetic Syndromes. Krantz, ID and Spinner NB (eds.). Oxford University Press, 2012.

2010

Allanson JE, Krantz ID, and Hennekam R,: Gorlin's Syndromes of the Head and Neck.  Fifth Edition. Oxford University Press, Ed. 2010.

2009

Ed. Krantz, ID and Spinner NB: Cytogenomic Syndromes.  Oxford University Press, 2009.

Chapters

2012

Xu, D, Krantz ID. : Cohesin and Human Disease.  Gene Regulatory Sequences and Human Disease, Springer (eds.). Ahituv, N, 2012.

2009

Deardorff MA and Krantz ID.: "Cornelia de Lange Syndrome".   Encyclopedia of Neuroscience.   L.R. Squire, Editor (eds.). Oxford: Academic Press. Volume, 3: 159-162, 2009.

2007

Krantz ID and Spinner NB. : "Notch Ligands: Jagged1 and Alagille Syndrome"  Molecular Basis of Inborn Errors of Development. Ed. Epstein CJ, Erickson RP, Wynshaw-Boris A. (eds.). McGraw-Hill. Page:2007.

Deardorff MA and Krantz ID.: "Coehsin Genes: NIPBL, SMC1L1 and Cornelia de Lange Syndrome".  Molecular Basis of Inborn Errors of Development.    Ed. Epstein CJ, Erickson RP, Wynshaw-Boris A. (eds.). McGraw-Hill. Page: 2007.

2006

Krantz ID, Aylsworth AS: "Liver, gallbladder, and pancreas" in Human Malformations and Related Anomalies  Stevenson RE, Hall JG (eds.). Oxford University Press, 2nd Edition: 1123-1158, 2006.

2004

Krantz ID and Spinner NB: Notch Ligands: Jagged1 and Alagille Syndrome. Molecular Basis of Inborn Errors of Development. Epstein CJ, Erickson RP, Wynshaw-Boris A (eds.). McGraw-Hill, Page: 461-469, 2004.

Kamath BM, Krantz ID: Alagille Syndrome. Management of Genetic Syndromes. Allanson J, Cassidy S (eds.). John Wiley & Sons, Inc. Page: 2004.

2002

Spinner NB, Morrissette JJD: Jagged Genes. Wiley Encyclopedia of Molecular Medicine. Creighton, Thomas E (eds.). John Wiley & Sons, Inc. 2002.

Krantz ID, Spinner NB: Notch Ligands: Jagged1 and Alagille Syndrome. Molecular Basis of Inborn Errors of Development. Epstein CJ, Erickson RP, Wyndshaw-Boris A (eds.). McGraw Hill, 2002.

2001

Saitta S, Krantz ID: Rubinstein-Taybi Syndrome. Pediatrics: An On-line Medical Reference. Altschuler SM (eds.). Emedicine, St. Petersburg, 2001.

Saitta S and Krantz ID. : "Rubinstein-Taybi Syndrome."    Pediatrics: An On-line Medical Reference.  Ed. Steven Altschuler et al. (eds.). 1st Edition. St. Petersburg. Emedicine Online Textbooks. 2001 Notes: http://www.emedicine.com/PED/topic2026.htm.

Bason LB and Krantz ID.: "Waardenburg Syndrome."  Pediatrics: An On-line Medical Reference. 1st Edition. St. Petersburg. Emedicine Online Textbooks. Emedicine.com, Inc.  Ed. Steven Altschuler et al. (eds.). 2001 Notes: http://www.emedicine.com/PED/topic2422.htm.

1997

Spinner NB, Krantz ID, Kamath BM : Alagille Syndrome.   In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online).  Copyright, University of Washington, Seattle. 1997-2006 Notes: Available at http://www.genetests.org.

Deardorff MA, Yaeger DM, Krantz ID : Cornelia de Lange Syndrome.  In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online).  Copyright, University of Washington, Seattle.  1997-2006 Notes: Available at http://www.genetests.org.

Posters and Presentations

Invited Lectures

2017

Krantz I. "Disorders of Cohesin Disruption", SMC Workshop, Japan, May, 2017.

2016

Krantz I. "Genomics in Clinical Practice" Precision Pediatrics - 4th China-American Pediatric Summit symposium, Beijing, China, Nov, 2016.

Krantz I. "Developmental Insights from Rare Disease Research" Grand Rounds, Resident Research Day - Key Note Address, Department of Pediatrics, State University of New York at Stony Brook, Apr, 2016.

Krantz I. "Developmental Insights from Rare Disease Research" Pediatric Grand Rounds, Yale, New Haven CT, Mar, 2016.

Krantz I. "Ethical Considerations in the Era of Genetic Evaluation" 19th Annual Update on Pediatric and Congenital Cardiovascular Disease, Orlando, FL, Feb, 2016.

2015

Krantz I. "Developmental and Molecular Insights from the Cohesinopathies" Ronald J. Lemire Lecturer Pediatric Grand Rounds Seattle Children's Hospital, Seattle, WA, Nov, 2015.

Krantz I. "Genomics in Clinical Practice" 3 Lecture Series, Pediatric Grand Rounds, The Children's Hospital of Philadelphia, Philadelphia PA, Jul, 2015.

Krantz I. "Genomics in Clinical Practice" Medical Grand Rounds Abington Memorial Hospital, Abington PA, May, 2015.

Krantz I. "Developmental and Molecular Insights from the Cohesinopathies" EMBO Workshop on SMC Proteins, Vienna Austria, May, 2015.

Krantz I. "Translating Rare Disorder and Genomic Research into Clinical Practice", Harvard Medical School, Boston, MA., Apr, 2015.

Krantz I. "Translating Rare Disorder and Genomic Research into Clinical Practice" Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Jan, 2015.

Awards and Honors

2016, The Dr. Laird Jackson Award for Scientific Contributions to Cornelia de Lange Syndrome, CdLS Foundation

2013, Cornelia de Lange Syndrome Clinical and Research Center of Excellence

2009, National Organization of Rare Disorders (NORD): nominated to Hall of Fame

2008, Cornelia de Lange Syndrome Clinical and Research Center of Excellence (Awarded to CHOP)

2005, The Gary "Reid" McDaniel Memorial Lecture Award

2005, The Dean's Award for Excellence in Basic Science Teaching, The University of Pennsylvania School of Medicine

2004, Sue Anthony Award, The Cornelia de Lange Syndrome Foundation

1999, Klaus and Mary Hummeler Endowed Research Prize

1999, Ethel Brown Foerderer Fund for Excellence

1999-2000, MAPS Scholar, The Children's Hospital of Philadelphia

1998-2003, Mentored Clinical Scientist Award-NIDDK

1997-1998, Clinical Associate Physician (CAP)

1997, McCabe Fund Pilot Project Award

1996, MAPS Scholar, The Children's Hospital of Philadelphia

1994, NYU Medical Center, Senior Pediatric Resident of the Year Award

1987, Quebec Provincial Student Research Award

1987, Natural Sciences and Engineering Research Council of Canada (NSERC)

1987, Industrial Student Research Award

1984, Graduation with Distinction, Concordia University

Editorial and Academic Positions

Editorial Positions

2012-present, Editorial Reviewer, PLOS Genetics
2011-present, Editorial Reviewer Biochemistry and Cell Biology
2008-present, Editorial Reviewer Human Molecular Genetics
2007-present, Editorial Reviewer Journal of Medical Genetics
2004-present, Editorial Board, American Journal of Medical Genetics
2000-present, Editorial Reviewer, Circulation
2000-present, Editorial Reviewer, American Journal of Human Genetics
1999-present, Editorial Reviewer Human Genetics
1999-present, Editorial Reviewer, Human Mutation
1998-present, Editorial Reviewer, American Journal of Medical Genetics

Academic and Institutional Committees

2015-present, Executive Committee, Genomics Research and Innovation Network (GRIN)
2015-present, Director of Medical Genetics Training Program, Division of Human Genetics

2015-present, University Disciplinary Hearing Panelist, Office of Student Conduct (OSC)
2013-present, University Steering Committee of University Council, University of Pennsylvania
2012-present, Diversity Search Advisor, Department of Pediatrics, Perelman School of Medicine
2012-present, Medical Faculty Senate Steering Committee
2012-present, Diversity Search Advisor (Pediatrics)
2010-present, University Council - University of Pennsylvania
2010-present, Senate Executive Committee (SEC) University of Pennsylvania - Constituency #28 (Pediatrics Department) Representative.
2006-present, Genes, Genomes and Pediatric Disease (GGPD) Affinity Group - CHOP
2005-present, Institutional Biological Safety Committee
2005-present, Director of Medical Genetics Training Program

Leadership and Memberships

Memberships in Professional Organizations

International

2013-present, Agence Nationale dela Recherche (ANR, Translational Research in Health Program (PRTS), France, Reviewer
2012-present, Fondazione Telethon, Italy, Grant reviewer

National

2009-present, NHLBI Pediatric Cardiac Genomic Consortium UO1 Proposals - NIH
 - Special Review Committee
2007-present, The Section on Genetics and Birth Defects (SOGBD), AAP
2006-present, Pallister Killian Syndrome Family Support Group
 - Medical Director
2003-present, Society for Pediatric Research
1999-present, Cornelia de Lange National Foundation
 - Scientific Advisory Committee
1996-present, Alagille Syndrome Alliance
 - Scientific Advisory Committee
1994-present, American Society of Human Genetics
1994-present, American Academy of Pediatrics