Publications

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The publications listed below include a link to the official abstract and a family summary. Developed for patients, families, and physicians, the family summaries provide a brief overview of each publication including background information, overall purpose, key findings, and conclusions.

October, 2019

The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum

Mussa, A., Duffy, K. A., Carli, D., Griff, J. R., Fagiano, R., Kupa, J., Brodeur, G. M., Ferrero, G. B., & Kalish, J. M. (2019). The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum. J Cancer Res Clin Oncol, 145(12), 3115-3123. doi:10.1007/s00432-019-03038-3

This study evaluated the ages at Wilms tumor (WT) development in patients with BWS compared to the ages at WT development in patients without BWS to determine whether screening until age 7 years is sufficient. The stage of WT at time of diagnosis was compared between patients with BWS diagnosed through screening and those who were not screened.

Read the family summary.

August, 2019

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

Duffy, K. A., Cielo, C. M., Cohen, J. L., Gonzalez-Gandolfi, C. X., Griff, J. R., Hathaway, E. R., Kupa, J., Taylor, J. A., Wang, K. H., Ganguly, A., Deardorff, M. A., & Kalish, J. M. (2019). Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management. Am J Med Genet C Semin Med Genet. doi:10.1002/ajmg.c.31740

Due to the variation in presentation among patients with Beckwith-Wiedemann syndrome (BWS), an international consensus redefined BWS as “Beckwith-Wiedemann Spectrum (BWSp).” This study evaluated clinical features and molecular testing results among patients with BWSp.

*Family summary in progress*

September, 2019

Development of the Serum α-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum

Duffy, K. A., Cohen, J. L., Elci, O. U., & Kalish, J. M. (2019). Development of the Serum alpha-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum. J Pediatr, 212, 195-200 e192. doi:10.1016/j.jpeds.2019.05.051

This study evaluated alpha-fetoprotein (AFP) values of patients with Beckwith-Wiedemann Spectrum (BWSp) and created reference ranges to help with interpretation of values.

Read the family summary.

September, 2019

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Li, Y., Hagen, D. E., Ji, T., Bakhtiarizadeh, M. R., Frederic, W. M., Traxler, E. M., Kalish, J. M., & Rivera, R. M. (2019). Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome. Epigenetics, 14(9), 850-876. doi:10.1080/15592294.2019.1615357

This article evaluated whether microRNA (miRNA) expression is dysregulated in a cow animal model of BWS (Large Offspring Syndrome (LOS)) and compared with miRNA expression in patients with Beckwith-Wiedemann Syndrome (BWS).

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July, 2019

Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome

Cohen, Jennifer L., Duffy, Kelly A., Sajorda, Brian J., Hathaway, Evan R., Gonzalez-Gandolfi, Christina X., Richards-Yutz, Jennifer, Gunter, Andrew T., Ganguly, Arupa, Kaplan, Julie, Deardorff, Matthew A., & Kalish, Jennifer M. (2019). Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome. American Journal of Medical Genetics Part A, 0(0). doi:10.1002/ajmg.a.61164

This study evaluated the clinical features in twins with Beckwith-Wiedemann Syndrome (BWS) and level of discordance (dissimilarity) between patients from the same pregnancy. An algorithm to diagnose and manage twins with BWS was proposed.

Read the family summary.

April, 2019

Beckwith-Wiedemann syndrome in diverse populations

Duffy, Kelly A., Sajorda, Brian J., Yu, Alice C., Hathaway, Evan R., Grand, Katheryn L., Deardorff, Matthew A., & Kalish, Jennifer M. (2019). Beckwith–Wiedemann syndrome in diverse populations. American Journal of Medical Genetics Part A, 179(4), 525-533. doi:10.1002/ajmg.a.61053

This study evaluated the presence of clinical features and molecular subtypes within racial and ethnic groups of patients with Beckwith-Wiedemann Syndrome (BWS).

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March, 2019

Obstructive sleep apnea in children with Beckwith-Wiedemann syndrome

Cielo, C. M., Duffy, K. A., Taylor, J. A., Marcus, C. L., & Kalish, J. M. (2019). Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome. J Clin Sleep Med, 15(3), 375-381. doi:10.5664/jcsm.7656

This study evaluated the prevalence of obstructive sleep apnea (OSA) in patients with Beckwith-Wiedemann Syndrome (BWS) treated at Children’s Hospital of Philadelphia (CHOP). All patients underwent a complete evaluation by genetics, plastic surgery, and pulmonology, and all had a sleep study (polysomnogram).

Read the family summary.

January, 2019

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome

Mussa, A., Duffy, K. A., Carli, D., Ferrero, G. B., & Kalish, J. M. (2019). Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer, 66(1), e27492. doi:10.1002/pbc.27492

This study evaluated the ages at hepatoblastoma (HB) development in patients with Beckwith-Wiedemann Syndrome (BWS) compared to the ages at HB development in patients without BWS to determine the optimal length of time to screen for HB in children with BWS.

Read the family summary.

May, 2018

Diagnosis of Beckwith-Wiedemann Syndrome in children presenting with Wilms Tumor

MacFarland, S. P., Duffy, K. A., Bhatti, T. R., Bagatell, R., Balamuth, N. J., Brodeur, G. M., Ganguly, A., Mattei, P. A., Surrey, L. F., Balis, F. M., & Kalish, J. M. (2018). Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor. Pediatr Blood Cancer, 65(10), e27296. doi:10.1002/pbc.27296

This study describes 12 patients who first presented with Wilms tumors (WT) and were subsequently diagnosed with Beckwith-Wiedemann Syndrome (BWS).

Read the family summary.

March, 2018

Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder

Davlin, A. S., Clarkin, C. M., & Kalish, J. M. (2018). Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder. Pediatrics. doi:10.1542/peds.2017-0475

This article discussed the doctor-patient relationship through commentary from two mothers of a child with BWS and a physician.

January, 2018

Obstructive sleep apnea and the role of tongue reduction surgery in children with Beckwith Wiedemann syndrome

Cielo, C. M., Duffy, K. A., Vyas, A., Taylor, J. A., & Kalish, J. M. (2018). Obstructive sleep apnea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. Paediatr Respir Rev, 25, 58-63. doi:10.1016/j.prrv.2017.02.003

This article reviews all available evidence regarding children with Beckwith-Wiedemann Syndrome (BWS) and macroglossia. The prevalence of obstructive sleep apnea (OSA) and management strategies in this population are discussed.

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August, 2017

Management of adrenal masses in patients with Beckwith-Wiedemann syndrome

MacFarland, S. P., Mostoufi-Moab, S., Zelley, K., Mattei, P. A., States, L. J., Bhatti, T. R., Duffy, K. A., Brodeur, G. M., & Kalish, J. M. (2017). Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer, 64(8). doi:10.1002/pbc.26432

This study proposes guidelines for evaluating adrenal masses detected in patients with Beckwith-Wiedemann Syndrome (BWS). A literature search was performed to identify all reported cases of patients with BWS and adrenal findings and reviewed in patients with BWS and adrenal findings treated at Children’s Hospital of Philadelphia (CHOP).

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August, 2017

Tumor screening in Beckwith-Wiedemann syndrome: parental perspectives

Duffy, K. A., Grand, K. L., Zelley, K., & Kalish, J. M. (2017). Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives. J Genet Couns. doi:10.1007/s10897-017-0182-8

This study aimed to identify how parents of children with Beckwith-Wiedemann Syndrome (BWS) or isolated hemihypertrophy/hemihyperplasia (now called isolated lateralized overgrowth (ILO)) felt about tumor screening protocols. This was the first study that directly asked parents of children with BWS or ILO about their perspective on tumor screening.

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July, 2017

Nomenclature and definition in asymmetric regional body overgrowth

Kalish, J. M., Biesecker, L. G., Brioude, F., Deardorff, M. A., Di Cesare-Merlone, A., Druley, T., Ferrero, G. B., Lapunzina, P., Larizza, L., Maas, S., Macchiaiolo, M., Maher, E. R., Maitz, S., Martinez-Agosto, J. A., Mussa, A., Robinson, P., Russo, S., Selicorni, A., & Hennekam, R. C. (2017). Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. doi:10.1002/ajmg.a.38266

This study defines and uses the term “isolated lateralized overgrowth” (ILO) in place of previously used terms: “isolated hemihypertrophy” and “isolated hemihyperplasia.” These terms are defined as asymmetry in the body because of overgrowth in individuals without any other underlying diagnosis.

Read the family summary.

March, 2017

The utility of Alpha-Fetoprotein screening in Beckwith-Wiedemann syndrome

Duffy, K. A., Deardorff, M. A., & Kalish, J. M. (2017). The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. Am J Med Genet A, 173(3), 581-584. doi:10.1002/ajmg.a.38068

This invited commentary discusses the usefulness of AFP screening for hepatoblastoma detection as well as hepatoblastoma tumor screening in patients with BWS due to IC2 LOM.

Read the family summary.

September, 2016

Tumor screening in Beckwith-Wiedemann syndrome- To screen or not to screen?

Kalish, J. M., & Deardorff, M. A. (2016). Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? Am J Med Genet A, 170(9), 2261-2264. doi:10.1002/ajmg.a.37881

There are many challenges to changing tumor screening protocols. This invited commentary discusses some of the related challenges and proposes to continue uniform screening for all patients with Beckwith-Wiedemann Syndrome (BWS).

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March, 2016

Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant

Ginart, P., Kalish, J. M., Jiang, C. L., Yu, A. C., Bartolomei, M. S., & Raj, A. (2016). Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant. Genes Dev, 30(5), 567-578. doi:10.1101/gad.275958.115

This study evaluated what happens at the level of the individual cell in a mouse model of imprinting disorders. Specifically, whether imprinting is altered in every cell a little bit or altered completely in some cells and normal in other cells resulting in mosaicism.

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January, 2016

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Kalish, J. M., Boodhansingh, K. E., Bhatti, T. R., Ganguly, A., Conlin, L. K., Becker, S. A., Givler, S., Mighion, L., Palladino, A. A., Adzick, N. S., De Leon, D. D., Stanley, C. A., & Deardorff, M. A. (2016). Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet, 53(1), 53-61. doi:10.1136/jmedgenet-2015-103394

This study describes 28 children diagnosed with hyperinsulinism (HI) and BWS. The clinical features of the patients, medical management, and molecular causes of HI were evaluated.

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May, 2013

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy

Kalish, J. M., Conlin, L. K., Mostoufi-Moab, S., Wilkens, A. B., Mulchandani, S., Zelley, K., Kowalski, M., Bhatti, T. R., Russo, P., Mattei, P., Mackenzie, W. G., LiVolsi, V., Nichols, K. E., Biegel, J. A., Spinner, N. B., & Deardorff, M. A. (2013). Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A, 161A(5), 993-1001. doi:10.1002/ajmg.a.35831

This study demonstrated that single-nucleotide polymorphism (SNP) array analysis is a sensitive test for detecting mosaicism in patients with Beckwith-Wiedemann syndrome (BWS) due to uniparental isodisomy (UPD).

Read the family summary.