For Jennifer Kalish, MD, PhD, understanding is the key to better treatments and better outcomes for patients. That’s why she is committed to researching a genetic disorder that increases the risk of cancer — and to helping patients and their families understand their diagnoses.
Dr. Kalish specializes in Beckwith-Wiedemann syndrome, a genetic disorder that causes overgrowth, either of the whole body or of parts of the body. Like many overgrowth disorders, it is associated with an increased risk of cancer.
The causes of Beckwith-Wiedemann syndrome are complex. In patients with Beckwith-Wiedemann syndrome, certain genes that control growth are expressed, or activated, abnormally. This abnormal expression is caused by epigenetic factors — that is, marks on the genes that control growth, not usually changes in the growth genes themselves.
There are several possible reasons for the abnormal gene expressions seen in Beckwith-Wiedemann syndrome, and in most cases, some but not all of the body’s cells are affected. This makes accurate testing and diagnosis a challenge.
To Dr. Kalish, one of the most exciting developments in the treatment of Beckwith-Wiedemann syndrome is an ever-increasing understanding of the diversity of its symptoms and its effects on patients.
“As we see more patients, we understand more about the range of clinical features and need for personalized management and care,” Dr. Kalish says.
Patients and their families can partner with Dr. Kalish and her research team by opting to participate in the BWS Registry, a program that collects clinical data and samples from patients to understand the various ways the condition affects patients and how to tailor treatments to patients’ needs.
“Through the BWS Registry and collecting clinical information, we are able to develop new clinical guidelines to help our patients,” Dr. Kalish says.
In addition to developing treatment options and best practices, Dr. Kalish is active in researching the root causes of Beckwith-Wiedemann syndrome.
“We need to understand how the epigenetic changes of BWS lead to overgrowth and cancer,” she says.
Patients’ families appreciate the way Dr. Kalish’s clear explanations of complex problems help them make informed decisions about their childrens’ care (link to animation about BWS and coloring books).
“I want each family to have an understanding of their clinical diagnosis and what we are doing as a clinical and research team to understand more about BWS so that we can improve our understanding and ultimately our care for patients,” Dr. Kalish says.
Education and Training
MD - Yale University, New Haven, CT
Pediatrics - Children's Hospital of Philadelphia, Philadelphia, PA
Pediatrics & Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA (Chief Resident in Genetics)
Postdoctoral Fellow - Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
Medical Genetics – American Board of Medical Genetics and GenomicsPediatrics – American Board of Pediatrics
PhD in Genetics - Yale University, New Haven, CT
MS in Translational Research - Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA
Titles and Academic Titles
Research Scientist, Center for Childhood Cancer Research
Lorenzo "Turtle" Sartini Jr. Endowed Chair in Beckwith-Wiedemann Syndrome Research
Director of Beckwith-Wiedemann Syndrome Clinic
Director of Beckwith-Wiedemann Syndrome Clinic Research Program
Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Assistant Professor of Genetics, Perelman School of Medicine at the University of Pennsylvania
Departments and Services
Areas of Focus
- Improving Outcomes through the Use of Standardized Protocols for Surveillance in Children Predisposed to Cancer
- Identification of Genetic and Epigenetic Factors That Contribute to the Increased Risk of Cancer in Children with Beckwith-Wiedemann Syndrome
Laboratories & Research Programs
Wagner CS, Pontell ME, Salinero LK, Barrero CE, Drust WA, Demarchis M, Liao EC, Kalish JM, Taylor JA: (Epi)genotype and Timing of Tongue Reduction Predict Safety and Long-Term Outcomes in Beckwith-Wiedemann Syndrome. Plastic and Reconstructive Surgery Sep 2023 Notes: Accepted.
Wagner CS, Pontell ME, Barrero CE, Salinero LK, Low DW, Liao EC, Nah HD, Kalish JM: Associations Between the Timing of Tongue Reduction Surgery, (Epi)genotype, and Dentoskeletal Development in Patients with Beckwith-Wiedemann Syndrome. Journal of Cranio-Maxillo-Facial Surgery May 2023.
Drust WA, Mussa A, Gazzin A, Lapunzina P, Tenorio-Castaño J, Nevado J, Pascual P, Arias P, Parra A, Getz KD, Kalish JM: Adult experiences in Beckwith-Wiedemann syndrome. American Journal of Medical Genetics May 2023 Notes: doi: 10.1002/ajmg.c.32046. Epub ahead of print.
Klein SD, DeMarchis M, Linn RL, MacFarland SP, Kalish JM: Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp). Cancers 15: 2548, April 2023. Notes: DOI: 10.3390/cancers15092548
McElroy TD, Duffy KA, Hathaway ER, Byrne ME, Kalish JM: Investigation of a pervasive immune, cardiac, and behavioralphenotype in Beckwith-Wiedemann syndrome: A case report. American Journal of Medical Genetics December 2022 Notes: doi: 10.1002/ajmg.a.63114. Online ahead of print. Epub 2023 January 3.
Best LG, Duffy KA, George AM, Ganguly A, Kalish JM: Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping. Americal Journal of Medical Genetics November 2022 Notes: doi: 10.1002/ajmg.a.63026, Online Ahead of Print.
Sobel Naveh NS, Traxler EM, Duffy KA, Kalish JM: Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome. Hepatology Communications 6(8): 2132-2146, Aug 2022 Notes: doi: 10.1002/hep4.1972. Online ahead of print. Epub 2022 May 4. PMCID: PMC9315120
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE: Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics 150(1), July 2022 Notes: 10.1542/peds.2021-054520.
Sequera-Ramos L, Duffy KA, Fiadjoe JE, Garcia-Marcinkiewicz A, Zhang B, Perate A, Kalish JM: The prevalence of difficult airway in children with Beckwith-Wiedemann Syndrome: A retrospective cohort study. Anesthesia and Analgesia 133(6): 1559-1567, Dec 2021 Notes: Ddoi: 10.1213/ANE.0000000000005536. PMCID: PMC8531168.
Duffy KA, Trout KL, Gunckle JM, Krantz SM, Morris J, Kalish JM: Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management. Front Pediatr 9: 733018, Dec 2021 Notes: doi: 10.3389/fped.2021.733018. eCollection 2021. PMCID: PMC8712693.
Chang S, Hur SK, Naveh NS, Thorvaldsen JL, French DL, Gagne AL, Jobaliya CD, Anguera MC, Bartolomei MS, Kalish JM: Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome. Epigenetics 16(12): 1295-1305, Dec 2021 Notes: doi: 10.1080/15592294.2020.1861172. Epub 2020 Dec 29. PMCID: PMC8813081.
Duffy KA, Getz KD, Hathaway ER, Byrne ME, MacFarland SP, Kalish JM: Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population. Genes 21(11): 1839, Nov 2021 Notes: doi: 10.3390/genes12111839. PMCID: PMC8621885.
Duffy KA, Hathaway ER, Klein SD, Ganguly A, Kalish JM: Epigenetic mosaicism and cell burden in Beckwith-Wiedemann Syndrome due to loss of methylation at imprinting control region 2. Cold Spring Harb Mol Case Stud. 7(6): a006115, Oct 2021 Notes: doi: 10.1101/mcs.a006115. Print 2021 Dec. PMCID: PMC8751414.
Strong A, Simone L, Krentz A, Vaccaro C, Watson D, Ron H, Kalish JM, Pedro HF, Zackai EH, Hakonarson H: Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes. Am J Med Genet A. 185(8): 2409-2416, Aug 2021 Notes: doi: 10.1002/ajmg.a.62337. Epub 2021 Jun 15. PMCID: PMC8361718.
Sobel Naveh NS, Deegan DF, Huhn J, Traxler E, Lan Y, Weksberg R, Ganguly A, Engel N, Kalish JM: The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome. Nucleic Acid Research 49(11): 6315-6330, Jun 2021 Notes: doi: 10.1093/nar/gkab475. PMCID: PMC8216465.
Baker SW, Ryan E, Kalish JM, Arupa G: Prenatal molecular testing and diagnosis of Beckwith-Wiedemann syndrome. Prenatal Diagnosis 41(7): 817-822, Jun 2021 Notes: doi: 10.1002/pd.5953. Epub 2021 May 18.
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM*, Ganguly A*: Improved molecular detection of mosaicism in Beckwith-Wiedemann syndrome. Journal of Medical Genetics March 2021 Notes: *Co-senior authors doi: 10.1136/jmedgenet-2019-106498. Epub 2020 May 19. PMCID: PMC7959163.
Tung JY, Lai SHY, Au SLK, Yeung KS, Kan ASY, Loong F, DeLeón DD, Kalish JM, Ganguly A, Chung BHY, Chan KYK: Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism. International Journal of Pediatric Endocrinology 13, 2020 Notes: 10.1186/s13633-020-00083-5. Epub 2020 Jul 10. PMCID: PMC7350603.
Fiala EM, Ortiz MV, Kennedy JA, Glodzik D, Fleischut MH, Duffy KA, Hathaway ER, Heaton T, Gerstle JT, Steinherz P, Shukla N, McNeer N, Tkachuk K, Bouvier N, Cadoo K, Carlo MI, Latham A, Dubard GM, Joseph V, Kemel Y, Kentsis A, Stadler Z, La Quaglia M, Papaemmanuil E, Friedman D, Ganguly A, Kung A, Offit K, Kalish JM,* Walsh MF* : 11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood. Cancer 126(13): 3114-3121, Jul 2020 Notes: *Co-senior authors doi: 10.1002/cncr.32907. Epub 2020 Apr 22. PMCID: PMC7383476.
Cohen JL, Cielo CM, Kupa J, Duffy KA, Hathaway ER, Kalish JM*, Taylor JA*: The utility of early tongue reduction surgery for macroglossia in Beckwith-Wiedemann syndrome. Plastic and Reconstructive Surgery 145(4): 803e-813e, Apr 2020 Notes: *Co-senior author DOI: 10.1097/PRS.0000000000006673. PMCID: PMC8038320.
Balci TB, Strong A, Kalish JM, Zackai E, Maris JM, Reilly A, Surrey LF, Wertheim GB, Marcadier JL, Graham GE, Carter MT: Tatton-Brown-Rahman syndrome: Six individuals with novel features. American Journal of Medical Genetics 182(4): 673-680, Apr 2020 Notes: doi: 10.1002/ajmg.a.61475.
Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF Jr, Semina EV: Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. Clin Genet. 97(3): 502-508, Mar 2020 Notes: doi: 10.1111/cge.13660. Epub 2019 Nov 10. PMCID: PMC7028510.
Mussa A, Duffy KA, Diana C, Griff JR, Fagiano R, Kupa J, Brodeur GM, Ferrero GB, Kalish JM: The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum. Journal of Cancer Research and Clinical Oncology 145(12): 3115-3123, Dec 2019 Notes: doi: 10.1007/s00432-019-03038-3. Epub 2019 Oct 4. PMCID: PMC6876630.
Duffy KA, Cohen JL, Elci OU, Kalish JM: Development of the serum a-fetoprotein reference range in patients with Beckwith-Wiedemann spectrum. The Journal of Pediatrics 212: 195-200, Sep 2019 Notes: 10.1016/j.jpeds.2019.05.051. PMCID: PMC6707865.
Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM: Characterization of the Beckwith-Wiedemann spectrum: diagnosis and management. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 181(4): 693-708, Dec 2019 Notes: doi: 10.1002/ajmg.c.31740. Epub 2019 Aug 30. PMCID: PMC7959855.
Li Y, Hagen DE, Ji T, Bakhtiarizadeh MR, Frederic WM,Traxler EM, Kalish JM, Rivera RM: Altered microRNA expression profiles in large offspring syndrome andBeckwith-Wiedemann syndrome. Epigenetics 14(9): 850-876, Sep 2019 Notes: doi: 10.1080/15592294.2019.1615357. Epub 2019 May 30. PMCID: PMC6691986.
Cohen JL, Duffy KA, Sajorda BJ, Hathaway ER, Gonzalez-Gandolfi CX, Richards-Yutz J, Gunter AT, Ganguly A, Kaplan J, Deardorff MA, Kalish JM: Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome. American Journal of Medical Genetics 179(7): 1139-1147, Jul 2019 Notes: doi: 10.1002/ajmg.a.61164. Epub 2019 May 8. PMCID: PMC7959854.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E1, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM: Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genetics in Medicine 21(11): 2644-2649, May 2019 Notes: DOI: 10.1038/s41436-019-0551-9. PMCID: PMC7848850.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D,Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein K, Krantz I,Leon E, Lord K,McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM: Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. American Journal of Medical Genetics Part A 179(4): 542-551, Apr 2019 Notes: doi: 10.1002/ajmg.a.61062. PMCID: PMC6454923.
Cielo CM, Duffy KA, Taylor JA, Marcus CL, Kalish JM: Obstructive sleep apnea in children with Beckwith-Wiedemann syndrome. Journal of Clinical Sleep Medicine 15(3): 375-381, Mar 2019 Notes: DOI:10.5664/jcsm.7656. PMCID: PMC6411187.
Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM: Beckwith-Wiedemann syndrome in diverse populations. American Journal of Medical Genetics Part A 179(4): 525-533, Feb 2019 Notes: DOI: 10.1002/ajmg.a.61053. PMCID: PMC6454922.
Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Rosado JM, Schindewolf E, Ganguly T, Kalish JM, Deardorff M, Ganguly A: Molecular diagnosis of somatic overgrowth conditions: a single center experience. Molecular Genetics & Genomic Medicine 7(3): e536, Mar 2019 Notes: doi: 10.1002/mgg3.536. Epub 2019 Feb 13. PMCID: PMC6418364.
Fix WC, Cornejo C, Duffy KA, Hathaway ER, Kalish JM, Rubin AI, Treat JR: Pediatric chondrodermatitis nodularis helicis (CNH) in a child with Beckwith-Wiedemann syndrome (BWS). Pediatric Dermatology 36(3): 388-390, Feb 2019 Notes: DOI: 10.1111/pde.13765.
Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A. Molecular diagnosis of somatic overgrowth conditions: A single-center experience. Mol Genet Genomic Med. 2019 Feb 13. doi: 10.1002/mgg3.536. [Epub ahead of print]
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, Kalish JM, et al. Hyperinsulinemic Hypoglycemia in Seven Patients with de novo NSD1 Mutations. Am J Med Genet Part A. Am J Med Genet A. 2019 Feb 4. doi: 10.1002/ajmg.a.61062. [Epub ahead of print]
Mussa A, Ciuffreda VP, Sauro P, Pagliardini V, Pagliardini S, Carli D, Kalish JM, Fagioli F,Pavanello E, Ferrero GB: Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in Beckwith Wiedemann syndrome. Cancers 11(1): 86, Jan 2019 Notes: doi: 10.3390/cancers11010086. PMCID: PMC6356556.
Symmons O, Chang M, Mellis IA, Kalish JM, Park J, Suszták K, Bartolomei M, Raj A: Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting PLoS Genetics 15(1), Jan 2019 Notes: doi: 10.1371/journal.pgen.1007874. eCollection 2019 Jan. PMCID: PMC6342324.
Davlin AS, Clarkin CM, Kalish JM. Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder. Pediatrics. 2018;141(3):e20170475
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al. Clinical and Molecular Diagnosis, Screening and Management of Beckwith-Wiedemann Syndrome: an International Consensus Statement. Nat Rev Endo, 2018 Apr;14(4):229-249; doi:10.1038/nrendo.2017.166
MacFarland SP, Duffy KA, Bhatti TR, Bagatell R, Balamuth NJ, Kalish JM, et al. Diagnosis of Beckwith–Wiedemann syndrome in children presenting with Wilms tumor. Pediatr Blood Cancer 2018. doi.org/10.1002/pbc.27296
Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, et al. Non reentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. Am J Med Genet A. 2018 Jul 28. doi: 10.1002/ajmg.a.38854. [Epub ahead of print] PMID:30055033
Cielo CM, Duffy KA, Taylor JA, Marcus CL, Kalish JM. Obstructive Sleep Apnea in Children with Beckwith-Wiedemann Syndrome. J of Clinical Sleep Med. 2018 in press.
Mussa A, Duffy KA, Carli D, Ferrero GB, Kalish JM. Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer. 2018 Sep 30:e27492. doi: 10.1002/pbc.27492. [Epub ahead of print] PMID: 30270492
Cielo CM, Duffy KA, Vyas A, Taylor J, and Kalish JM. Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. Paediatr Respir Rev. 2018 Jan;25:58-63. PMCID: PMC5890299
Duffy KA, Deardorff MA, Kalish JM. The Utility of Alpha-Fetoprotein Screening in Beckwith-Wiedemann Syndrome. Am J Med Genet Part A. 2017 173A:581–584.
Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, et al. Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet Part A. 2017;May 5:1–4. https://doi.org/10.1002/ajmg.a.38266 PMID: 28475229
Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, Pfister SM, Walsh MF, Wasserman JD, Zelley K, Kratz CP. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. Clin Cancer Res. 2017 Jun; 23(12):e83-e90. doi: 10.1158/1078-0432.CCR-17-0631. PMID: 28620009
Kalish JM, Doros L, Helman LJ, Hennekam R, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon S, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, and Druley TE. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res. 2017 July; 23(13): e115-e122. PMID:28674120
Duffy KA, Grand KL, Zelley K, Kalish JM. Tumor Screening in Beckwith-Wiedemann syndrome: Parental Perspectives. J of Genetic Counseling. . 2017. doi.org/10.1007/s10897-017-0182-8
Tong CC, Duffy KA, Chu DI, Weiss DA, Srinivasan AK, Canning DA, Kalish JM. Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management. Urology. 2017 Feb;100:224-227. doi: 10.1016/j.urology.2016.08.037. Epub 2016 Sep 7.
Sharma, S., Kalish, J.M., Goldberg, E.M., Reynoso, F.J., and Pradhan, M.: An atypical presentation of a male with oral-facial-digital syndrome Type 1 related ciliopathy. Case Reports in Nephrology doi:10.1155/2016/3181676. 2016, 2016.
Kalish JM and Deardorff MA. : Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? Am J Med Genet Part A. 170A: 2261-2264, Sept 2016.
Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, et al. Congenital Hyperinsulinism in Children with Paternal 11p Uniparental Isodisomy and Beckwith- Wiedemann Syndrome. J Med Genet, 2016, Jan: 53(1): 53–61. PMCID: PMC4740975
Ginart P*, Kalish JM*, Jiang C, Yu A, Bartolomei M, and Raj A. Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant. Genes Dev, 2016, March: 30(5): 567-578
MacFarland SP, Mostoufi-Moab S, Zelley K, Mattei PA, States LJ, Bhatti TR, Duffy KA, Brodeur GM, and Kalish JM. Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer 2016; doi:10.1002/pbc.26432. PMID: 28066990
Edmondson A and Kalish JM. Overgrowth Syndromes. J Ped Genet,2015, 4(3): 136-143.
Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti T, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, and Deardorff MA. Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-level Uniparental Disomy. Am J Med Genet A. 2013 May;161A(5):993-1001. doi: 10.1002/ajmg.a.35831. Epub 2013 Mar 26.
Kalish JM, Conlin LK, Bhatti T, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States L, Swarr D, Wilkens AB, Zackai E, Zelley K, Bartolomei MS, Nichols KE, Palladino A, Spinner NB, and Deardorff MA. Clinical Features of Three Girls with Mosaic Genome-Wide Paternal Uniparental Isodisomy. Am J Med Genet A. 2013 Aug;161A(8):1929-39. doi: 10.1002/ajmg.a.36045. Epub 2013 Jun 26.
Knauert* MP, Kalish* JM, Hegan DC, and Glazer PM.: Triplex-Stimulated Intermolecular Recombination at a Single-Copy Genomic Target Molecular Therapy 14(3): 392-400, Sept 2006 Notes: *co-first author.
Kalish JM, Seidman MM, Weeks DL, and Glazer PM. : Triplex-induced recombination and repair in the pyrimidine motif Nucleic Acids Research 33(11): 3492-3502, June 2005.
Kalish J.M., Arnoux JB. Syndromic Causes of Congenital Hyperinsulinism. Congenital Hyperinsulinism. 2019. ed De León-Crutchlow D., Stanley C. Contemporary Endocrinology. Humana Press, Cham.
Kalish JM, Ferrero GB, Mussa A. Lateralized overgrowth – hemihypertrophy and hemihyperplasia. Overgrowth Syndromes. 2018. ed Giovanni Neri, Luigi Boccuto, and Roger Stevenson. Oxford University Press.
Mussa A, Kalish JM, Cerrato F, Riccio A, Ferrero GB. Beckwith-Wiedemann Syndrome. Overgrowth Syndromes. 2018. ed Giovanni Neri, Luigi Boccuto, and Roger Stevenson. Oxford University Press.
Kalish JM and Zackai EH. Genetic Syndromes Caused by Chromosomal Abnormalities, Comprehensive Pediatric Hospital Medicine, Second Edition. Edited by Lisa Zaoutis and Vincent Chiang. McGraw-Hill. 2016.
Kalish JM. : Asymmetry and Hypertrophy. Human Malformations and Related Anomalies, Third Edition. Roger E. Stevenson, Judith G. Hall, David B. Everman, and Benjamin S. Soloman (eds.). Oxford University Press, November 2015.
Nixdorff N, Goodman A, and Kalish J.: Immunodeficiency Diseases. The Five Minute Clinical Consult. Williams and Wilkins Domino F. Lippincott (eds.). May 2013.
Kalish JM, Haldeman-Englert C, and Deardorff MA.: Genetics Syndromes. Netter's Pediatrics. Florin TA and Ludwig SM. (eds.). Elsevier Press, June 2011.
Haldeman-Englert C, Kalish JM, and Deardorff MA.: Disorders of Sexual Development Netter's Pediatrics. Edited by Florin TA and Ludwig SM (eds.). Elsevier Press, June 2011.
Posters and Presentations
Cohen J, Sajorda B , Traxler E, Frederic W, Duffy K, Kalish JM, et al. Utility of early tongue reduction surgery in patients with Beckwith-Wiedemann syndrome. Presented at the American Society for Human Genetics, San Diego, October 2018.
Cohen JL, Rossidis AC, Baumgarten H, Frederic W, Duffy KA, Kalish JM et al. Epigenetic analysis of regulatory genes in extreme premature lambs supported by the EXTra-uterine Environment for Neonatal Development (EXTEND). Presentation at the 37th Annual International Fetal Medicine and Surgery Society Meeting, Bali, Indonesia, August 2018.
Sheppard S, Lalonde E, Ji J, Adzick NS, Beck AE, Bhatti T, Kalish JM, et al. Chimeric versus Mosaic Genome-wide Paternal Uniparental Isodisomy as Etiologies for Beckwith-Wiedemann Syndrome. Presented at the 39th Annual David W. Smith Workshop, Banff, Canada, August 2018.
Cohen JL, Sajorda B, Duffy K, Hathaway E, Richards-Yutz J, Kalish JM, et al. Diagnosis and Management of the Phenotypic Spectrum of Twins With Beckwith-Wiedemann Syndrome. Presented at the 39th Annual David W. Smith Workshop, Banff, Canada, August 2018.
Linn RL, Duffy K, Frederic W, Traxler E, Hathaway E, Kalish JM, et al. Beyond Meschenchymal Dysplasia: Clinical Characterization of Placental Pathology in Beckwith-Wiedemann Syndrome. Presented at the 39th Annual David W. Smith Workshop, Banff, Canada, August 2018.
Yu A, Duffy K, Hathaway E, Kelly J, Richards-Yutz J, Kalish JM, et al. The Phenotypic Spectrum of Beckwith-Wiedemann Syndrome due to Loss of Methylation at Imprinting Center 2. Presented at the 39th Annual David W. Smith Workshop, Banff, Canada, August 2018.
Sheppard S, Lalonde E, Ji J, Randolph L, Hathaway E, Kalish JM, et al. Chimeric Genome-Wide Paternal Uniparental Isodisomy: Diagnosis and Management. Presented at the American College of Medical Genetics Meeting, Charlotte, North Carolina April 2018.
Hathaway E, Duffy K, Sajorda B, Mitteer L, Boodhansingh K, Kalish JM, et al. The Spectrum of Hyperinsulinism across the Molecular Spectrum of Beckwith-Wiedemann Syndrome. Presented at the American College of Medical Genetics Meeting, Charlotte, North Carolina April 2018.
Lalonde E, Ebrahimzadeh J Rafferty K, Richards-Yutz J, Schindewolf E, Kalish JM, et al. Tissue and phenotypic heterogeneity in somatic overgrowth conditions. Presented at the American College of Medical Genetics Meeting, Charlotte, North Carolina April 2018.
Schindewolf E, Skraban C, Kalish JM, Conlin L, Tarpinian J, Coleman B, Hathaway E, Moldenhauer JS. Pearls of Wisdom: Prenatal Findings and Neonatal Course in an Individual with Perlman Syndrome. Presented at the American College of Medical Genetics Meeting, Charlotte, North Carolina April 2018.
Cohen JL, Rossidis AC, Baumgarten H, Frederic W, Duffy KA, Kalish JM, et al. Epigenetic analysis of extreme premature lambs supported by the EXTra-uterine Environment for Neonatal Development (EXTEND). Platform Presentation, International Fetal Medicine and Surgery Society, Jackson Hole, WY, October 2017.
Ackermann AM, Li C, Lord K, Boodhansingh KE, Kalish JM, Bhatti TR, et al. Severe Hyperinsulinism in Infants with Beckwith-Wiedemann Syndrome and Heterozygous KATP Channel Mutations: More than Focal or Diffuse Disease. Poster Presentation, International Pediatric Endocrine Society Meeting, Washington, DC, September 2017.
Kalish JM, Vyas A, Murali C, Deardorff MA, and Duffy KA. Clinical features of Beckwith-Wiedemann syndrome in diverse populations, Platform presentation at the 38th Annual David W. Smith Workshop, Stowe,VT, August 2017.
Ebrahimzadeh J, Kelly J, Kalish JM, Khalek N, Shindewolf E. Indications associated with a prenatal diagnosis of Beckwith-Wiedemann syndrome. Poster Presentation, National Society of Genetic Counselors, Seattle, WA, September 2016.
Sullivan-Pyke C, Duffy K, O’Neill K, Kalish J. Beckwith-Wiedeman Syndrome in IVF: Need for improvement in prenatal diagnosis. Poster Presentation, Fertility and Sterility 106 (3): Supplement, e369, 2016.
Kalish JM, Ginart P, Duffy K, Yu A, Deardorff MA, States L, Raj A, and Bartolomei MS. Genetic and Epigenetic Mosaicism in Beckwith-Wiedemann Syndrome. Platform presentation at the 37th Annual David W. Smith Workshop, Lake Arrowhead, CA, September 2016.
McKay E, Ruchelli E, Ganguly A, Ebrahimzadeh J, Richards-Yutz J, Seaver L, Bober M,Duker A, Deardorff MA, and Kalish JM.: Placental pathology in IMAGe syndrome associated with gain-of-function mutations in CDKN1C. Society for Pediatric Pathology, Seattle, WA (platform presented by collaborator) March 2016.
Kalish JM. “Beckwith-Wiedeman Syndrome: Bench to Bedside,” Fels Institute for Cancer Research & Molecular Biology, Temple University. 2019.
Kalish JM. Cardinal Features of Beckwith-Wiedemann Syndrome. Invited Presentation at the American College of Medical Genetics Meeting, Charlotte, North Carolina April 2018.
Kalish JM. “Deciphering Beckwith-Wiedemann Syndrome,” University of Texas, Southwestern, Dallas, TX. 2018.
Kalish JM. “Beckwith-Wiedemann Syndrome: A Partnership between patients, families and physicians” Brazilian Family Beckwith-Wiedemann Syndrome Conference, Campinas, Brazil. 2018.
Kalish JM. “Deciphering Beckwith-Wiedemann Syndrome,” 30th Brazilian Congress of Medical Genetics, Rio de Janerio, Brazil. 2018.
Kalish JM. “Consensus of screening recommendations for children with hereditary predisposition syndromes to cancer” 30th Brazilian Congress of Medical Genetics, Rio de Janerio, Brazil. 2018.
Kalish JM. “Beckwith-Wiedemann Syndrome: A Partnership between patients, families and physicians,” Israeli Family Beckwith-Wiedemann Syndrome Conference, Tel Aviv, Israel. 2018.
Kalish JM. “Deciphering Beckwith-Wiedemann Syndrome: updates and practical diagnosis,” Danek Gertner Institute of Human Genetics at Sheba Medical Center, Ramat Gan, Israel. 2018.
Kalish JM. “Current diagnosis and management of Beckwith-Wiedemann Syndrome,” Meir Medical Center, Kfar Saba, Israel. 2018.
Kalish JM. “Syndromic Causes of Hyperinsulinism, Congenital Hyperinsulinism Family Conference, Galloway, NJ. July, 2017.
Kalish JM. “Beckwith-Wiedemann Syndrome: A Partnership between Patients, Families, and Physicians.” BWS family Conference, Miami, FL. June, 2016.
Kalish JM. “Beckwith-Wiedemann Syndrome and Congenital Hyperinsulinism.” Congenital Hypoglycemia Disorders Symposium, Philadelphia, PA. April, 2016 .
Awards and Honors
2014, John M. Opitz Young Investigator Award, American Journal of Medical Genetics
2014, Children's Hospital of Philadelphia Distinguished Trainee Award
2013-2015, Alex's Lemonade Stand Young Investigator Award
2013, Children's Hospital of Philadelphia Research Day Poster Award
2013-2015, Clinical and Translational Science Award, Institute for Translational Medicine and Therapeutics at the Perelman School of Medicine at the University of Pennsylvania
2013-2016, National Institutes of Health Pediatric Loan Repayment Program, National Cancer Institute
2012, Peter Duncan Fellow Award
2010-2013, Medical Genetics T-32 Training Fellowship Award
2007, Alpha Omega Alpha, Yale University
2007, cum laude, Yale University
2007, Yale MD/PhD Alumni Award
1999-2007, Medical Scientist Training Program
1998, cum laude, Harvard University
1994, 53rd Westinghouse Science Talent Search, 8th place
Editorial and Academic Positions
2018-present, Reviewer, Pathobiology
2018-present, Reviewer, Genetics in Medicine
2017-present, Reviewer, Pediatric Blood and Cancer
2016-present, Reviewer, PLoS ONE
2016-present, Reviewer, Journal of Perinatal Medicine
2016-present, Reviewer, European Journal of Cancer
2016-present, Reviewer, Pediatrics
2016-present, Reviewer, Clinical Genetics
2016-present, Reviewer, Journal of Pediatric Endocrinology and Metabolism
2016-present, Reviewer, Prenatal Diagnosis
2015-present, Reviewer, Clinical Epigenetics
2014–present, Editorial Board Member, Orphanet Journal of Rare Diseases
2014–present, Reviewer, American Journal of Medical Genetics
2012–present, Reviewer, Pediatric Emergency Care
Academic and Institutional Committees
2018-present, John Opitz Young Investigator Award Selection Committee
2017-present, CHOP Cancer Predisposition Search Committee
2017-present, Alex’s Lemonade Stand Foundation Grant Review Committee
2016-present, CHOP Institutional Biobanking Committee
2016-present, Division of Human Genetics, Scientific Review Committee
2016-present, BaSciK-GPS Committee
2016-present, St. Baldricks Foundation Grant Review Committee
2016-present, CHOP Basic Science K Committee
Leadership and Memberships
Memberships in Professional Organizations
2016-present, American Association of Cancer Research
2013–present, American College of Medical Genetics
2007–present, American Medical Association
2007–present, American Academy of Pediatrics
Patient Experience Ratings
About the Patient Experience Rating System
The Patient Experience Rating is an average of all responses to the care provider related questions shown above from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question.
Responses are measured on a scale of 1 to 5 with 5 being the best score.
We are committed to true transparency. However, to ensure the comments are fair and correctly attributed, we review each one before posting to the website. We exclude entire comments that disclose patient's protected health information, are off-topic, or include other confidential or inappropriate content. Comments will appear on provider bios only if providers have a minimum number of comments.
Comments are shared internally for education purposes to ensure that we are doing our very best for the patients and families for whom we are privileged to care.
The comments are submitted by patients and families and reflect their views and opinions. The comments are not endorsed by and do not reflect the views of Children’s Hospital of Philadelphia.