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Publications
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.
March, 2024
Romeo DJ, Wagner CS, Massenburg BB, Reddy N, Wu M, Ng JJ, DeMarchis M, Liao EC, Kalish JM, Taylor JA. Trends in Blood Mosaicism and Clinical Phenotype Score in Patients with Beckwith-Wiedemann Syndrome Evaluated for Tongue Reduction Surgery. Plast Reconstr Surg. 2024 Mar 19.
The study explores how blood mosaicism levels (the number of cells in the blood with BWS-associated changes) and BWS clinical scores are associated with the need for tongue reduction surgery.
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April, 2024
A Novel Macroglossia Severity Index for Beckwith-Wiedemann Syndrome - PubMed (nih.gov)
Romeo DJ, Banala M, Wu M, Ng JJ, Massenburg BB, George A, DeMarchis M, Liao EC, Kalish JM, Taylor JA. A Novel Macroglossia Severity Index for Beckwith-Wiedemann Syndrome. Ann Surg. 2024 Apr 22.
This is the first classification system for macroglossia in BWS. This system will help facilitate communication and patient care across institutions.
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June, 2024
George AM, Viswanathan A, Best LG, Monahan C, Limmina M, Ganguly A, Kalish JM. Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants. Am J Med Genet A. 2024 Jun 1.
This study is a comprehensive review of the phenotype and cancer risk of patients with BWS with CDKN1C variants. The cohort of patients with these variants had not been extensively studied before and there are certain unique aspects of this cohort that are discussed here.
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April, 2023
Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp) - PubMed (nih.gov)
Klein SD, DeMarchis M, Linn RL, MacFarland SP, Kalish JM. Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp). Cancers (Basel). 2023 Apr 29
This study describes the largest cohort of patients on the BWS spectrum who have also developed hepatoblastomas, a type of liver cancer that is common in the BWS population. This study works to understand the genetic and epigenetic changes that are present in children with BWS who develop hepatoblastoma so that we can better understand how to screen for these tumors.
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May, 2023
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.
This study describes the correlations between the timing of tongue reduction surgery and dental outcomes for these patients.
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Adult experiences in Beckwith-Wiedemann syndrome
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.
This article explores the adult experience of BWS via survey and medical chart review. This paper highlights the medical needs of adults with BWS.
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September, 2023
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. doi: 10.1097/PRS.0000000000011112
This study explores the association between molecular BWS type and the need for tongue reduction surgery.
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December, 2023
Cancer Predisposition Signaling in Beckwith-Wiedemann Syndrome Drives Wilms Tumor Development
Nirgude S, Naveh NSS, Kavari SL, Traxler EM, Kalish JM: Cancer Predisposition Signaling in Beckwith-Wiedemann Syndrome Drives Wilms Tumor Development. British Journal of Cancer Dec 2023 Notes: DOI: 10.1038/s41416-023-02538-x.
This study analyzes the molecular pathways that are present in Wilms tumor, a type of cancer that can impact children with BWS. Studying these pathways may help us understand more about why Wilms tumors develop in BWS.
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January, 2022
McElroy TD, Duffy KA, Hathaway ER, Byrne ME, Kalish JM: Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report. American Journal of Medical Genetics Dec 2022 Notes: doi: 10.1002/ajmg.a.63114. Online ahead of print. Epub 2023 January 3.
This study describes a case of BWS with unusual features and explores the role of a multi-locus imprinting disturbance as a potential cause of this patient’s features.
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May, 2022
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome
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
This study works to better understand the predisposition of hepatoblastoma in BWS by comparing tumor tissue and data to nontumor tissue and data.
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June, 2021
Prenatal molecular testing and diagnosis of Beckwith-Wiedemann syndrome
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.
This article provides information on the usefulness of prenatal testing for BWS as well as which BWS features are most often observed in patients that receive prenatal molecular confirmation.
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The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome
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
This article explores the role of CTCF, a protein that binds to DNA and controls chromatin looping, in chromatin organization in BWS.
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December, 2021
Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome
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
This study describes an innovative approach to modeling BWS. Induced pluripotent stem cells are created from patients with BWS and turned into liver cells in order to investigate the differences between BWS and non-BWS liver cells.
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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
This study works to understand the connection between severity of loss of methylation and phenotype. Individuals with complete loss of methylation had more pronounced phenotypes while individuals with partial loss of methylation had less pronounced, more variable phenotypes.
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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
The prevalence of difficult airways has never been clearly defined in BWS. This study defines ways to manage airways, possible risk factors for difficult airways as well as formally determine the prevalence of difficult airways in BWS.
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April, 2020
The utility of early tongue reduction surgery for macroglossia in Beckwith-Wiedemann syndrome
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
This study discusses the benefits of early tongue reduction surgery as a treatment for macroglossia (a cardinal feature of BWS).
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May, 2020
Improved molecular detection of mosaicism in Beckwith-Wiedemann syndrome
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 Mar 2021 Notes: *Co-senior authors doi: 10.1136/jmedgenet-2019-106498. Epub 2020 May 19. PMCID: PMC7959163
This study expands our understanding of the best ways to test for molecular confirmation of a BWS diagnosis.
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December, 2020
Griff JR, Duffy KA, Kalish JM: Characterization and childhood tumor risk assessment of genetic and epigenetic syndromes associated with lateralized overgrowth. Frontier Pediatrics 8: 613260, Dec 2020 Notes: doi: 10.3389/fped.2020.613260. eCollection 2020. PMCID: PMC7773942
This article provides an overview of the cancer screening recommendations for four syndromes associated with lateralized overgrowth.
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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.
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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.
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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.
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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.
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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).
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January, 2019
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.
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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).
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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
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.
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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.
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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
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
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
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).
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