Jennifer M. Kalish, MD, PhD

Medical School

MD - Yale University, New Haven, CT

Internship

Pediatrics - The Children's Hospital of Philadelphia, Philadelphia, PA

Residency

Pediatrics & Genetics - The Children’s Hospital of Philadelphia, Philadelphia, PA (Chief Resident in Genetics)

Fellowship

Postdoctoral Fellow - Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA

Board Certification

Medical Genetics
Pediatrics

Graduate Degree

PhD in Genetics - Yale University, New Haven, CT
MS in Translational Research - Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA

Papers

2019

Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM. Beckwith-Wiedemann Syndrome in Diverse Population. Am J Med Genet A. 2019 Feb 4. doi: 10.1002/ajmg.a.61053. [Epub ahead of print]

Fix WC, Cornejo C, Duffy KA, Evan R. Hathaway ER, Kalish JM, Rubin AI, Treat JR. Pediatric chondrodermatitis nodularis helicis (CNH) in a child with Beckwith-Wiedemann syndrome. Pediatric Dermatology. Pediatr Dermatol. 2019 Feb 17. doi: 10.1111/pde.13765. [Epub ahead of print]

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]

2018

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. Nonreentrant 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

2017

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.

2016

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

2015

Edmondson A and Kalish JM. Overgrowth Syndromes. J Ped Genet,2015, 4(3): 136-143. 

2013

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.

2006

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.

2005

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.

Books

Chapters

2019

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.

2018

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.

2016

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.

2015

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.

2013

Nixdorff N, Goodman A, and Kalish J.: Immunodeficiency Diseases. The Five Minute Clinical Consult.  Williams and Wilkins Domino F. Lippincott (eds.). May 2013.

2011

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

2018

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.

2017

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.

2016

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.

Invited Lectures

2019

Kalish JM. “Beckwith-Wiedeman Syndrome: Bench to Bedside,” Fels Institute for Cancer Research & Molecular Biology, Temple University. 2019.

2018

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.

2017

Kalish JM. “Syndromic Causes of Hyperinsulinism, Congenital Hyperinsulinism Family Conference, Galloway, NJ. July, 2017.

2016

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 .