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Select item 95450721.

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques

Diana Carli, Matteo Operti, Silvia Russo, Guido Cocchi, Donatella Milani, Chiara Leoni, Elisabetta Prada, Daniela Melis, Mariateresa Falco, Jennifer Spina, Vera Uliana, Osimani Sara, Fabio Sirchia, Luigi Tarani, Marina Macchiaiolo, Flavia Cerrato, Angela Sparago, Laura Pignata, Pierpaola Tannorella, Simona Cardaropoli, Andrea Bartuli, Andrea Riccio, Giovanni Battista Ferrero, Alessandro Mussa

Clin Genet. 2022 Oct; 102(4): 314–323. Published online 2022 Jul 21. doi: 10.1111/cge.14193

PMCID:: PMC9545072

Abstract Article PDF–1.5M

Select item 93672422.

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

Leila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, Pedro Arias, Natalia Gallego, Valeria Romanelli, Piranit Nik Kantaputra, Leonardo Lima, Juan Clinton Llerena Júnior, Claudia Arberas, Encarna Guillén-Navarro, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina

Cancers (Basel) 2022 Aug; 14(15): 3807. Published online 2022 Aug 5. doi: 10.3390/cancers14153807

PMCID:: PMC9367242

Abstract Article PDF–518K

Select item 93151203.

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith‐Wiedemann syndrome

Natali S. Sobel Naveh, Emily M. Traxler, Kelly A. Duffy, Jennifer M. Kalish

Hepatol Commun. 2022 Aug; 6(8): 2132–2146. Published online 2022 May 4. doi: 10.1002/hep4.1972

PMCID:: PMC9315120

Abstract Article PDF–3.6M

Select item 93144844.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 93107695.

A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes

Sarah E. Grosvenor, Justin H. Davies, Margaret Lever, Julie Sillibourne, Deborah J. G. Mackay, I. Karen Temple

Am J Med Genet A. 2022 Jun; 188(6): 1896–1903. Published online 2022 Mar 9. doi: 10.1002/ajmg.a.62717

PMCID:: PMC9310769

Abstract Article PDF–1.5M

Select item 91484956.

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Laura Pignata, Francesco Cecere, Ankit Verma, Bruno Hay Mele, Maria Monticelli, Basilia Acurzio, Carlo Giaccari, Angela Sparago, Jose Ramon Hernandez Mora, Ana Monteagudo-Sánchez, Manel Esteller, Arrate Pereda, Jair Tenorio-Castano, Orazio Palumbo, Massimo Carella, Paolo Prontera, Carmelo Piscopo, Maria Accadia, Pablo Lapunzina, Maria Vittoria Cubellis, Guiomar Perez de Nanclares, David Monk, Andrea Riccio, Flavia Cerrato

Clin Epigenetics. 2022; 14: 71. Published online 2022 May 28. doi: 10.1186/s13148-022-01292-w

PMCID:: PMC9148495

Abstract Article PDF–1.1M

Select item 90247447.

Psychosocial Difficulties in Preschool-Age Children with Beckwith–Wiedemann Syndrome: An Exploratory Study

Niccolò Butti, Annalisa Castagna, Rosario Montirosso

Children (Basel) 2022 Apr; 9(4): 551. Published online 2022 Apr 13. doi: 10.3390/children9040551

PMCID:: PMC9024744

Abstract Article PDF–927K

Select item 89418228.

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

Pierpaola Tannorella, Luciano Calzari, Cecilia Daolio, Ester Mainini, Alessandro Vimercati, Davide Gentilini, Fiorenza Soli, Annalisa Pedrolli, Maria Teresa Bonati, Lidia Larizza, Silvia Russo

Clin Epigenetics. 2022; 14: 43. Published online 2022 Mar 22. doi: 10.1186/s13148-022-01262-2

PMCID:: PMC8941822

Abstract Article PDF–1.1M

Select item 89286989.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Perez de Nanclares, Paola Lombardi, I. Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R. Maher, Zeynep Tümer

Clin Epigenetics. 2022; 14: 41. Published online 2022 Mar 16. doi: 10.1186/s13148-022-01259-x

PMCID:: PMC8928698

Abstract Article PDF–1.2M

Select item 870062510.

Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series

Maurizio De Pellegrin, Lorenzo Brogioni, Guy Laskow, Graziano Barera, Roberta Pajno, Sara Osimani, Silvia Russo, Lorenzo Marcucci

Children (Basel) 2021 Dec; 8(12): 1152. Published online 2021 Dec 7. doi: 10.3390/children8121152

PMCID:: PMC8700625

Abstract Article PDF–4.8M

Select item 869977311.

Lateralized and Segmental Overgrowth in Children

Alessandro Mussa, Diana Carli, Simona Cardaropoli, Giovanni Battista Ferrero, Nicoletta Resta

Cancers (Basel) 2021 Dec; 13(24): 6166. Published online 2021 Dec 7. doi: 10.3390/cancers13246166

PMCID:: PMC8699773

Abstract Article PDF–2.3M

Select item 862188512.

Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith–Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population

Kelly A. Duffy, Kelly D. Getz, Evan R. Hathaway, Mallory E. Byrne, Suzanne P. MacFarland, Jennifer M. Kalish

Genes (Basel) 2021 Nov; 12(11): 1839. Published online 2021 Nov 21. doi: 10.3390/genes12111839

PMCID:: PMC8621885

Abstract Article PDF–323K

Select item 803832013.

The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome

Jennifer L. Cohen, Christopher M. Cielo, Jonida Kupa, Kelly A. Duffy, Evan R. Hathaway, Jennifer M. Kalish, Jesse A. Taylor

Plast Reconstr Surg. Author manuscript; available in PMC 2021 Apr 11.

Published in final edited form as: Plast Reconstr Surg. 2020 Apr; 145(4): 803e–813e. doi: 10.1097/PRS.0000000000006673

PMCID:: PMC8038320

Abstract Article PDF–909K

Select item 795985514.

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

Kelly A. Duffy, Christopher M. Cielo, Jennifer L. Cohen, Christina X. Gonzalez-Gandolfi, Jessica R. Griff, Evan R. Hathaway, Jonida Kupa, Jesse A. Taylor, Kathleen H. Wang, Arupa Ganguly, Matthew A. Deardorff, Jennifer M. Kalish

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2021 Mar 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 693–708. Published online 2019 Aug 30. doi: 10.1002/ajmg.c.31740

PMCID:: PMC7959855

Abstract Article PDF–1.8M

Select item 795985415.

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

Jennifer L. Cohen, Kelly A. Duffy, Brian J. Sajorda, Evan R. Hathaway, Christina X. Gonzalez-Gandolfi, Jennifer Richards-Yutz, Andrew T. Gunter, Arupa Ganguly, Julie Kaplan, Matthew A. Deardorff, Jennifer M. Kalish

Am J Med Genet A. Author manuscript; available in PMC 2021 Mar 15.

Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1139–1147. Published online 2019 May 8. doi: 10.1002/ajmg.a.61164

PMCID:: PMC7959854

Abstract Article PDF–1.0M

Select item 795916316.

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, Matthew A Deardorff, Jennifer M Kalish, Arupa Ganguly

J Med Genet. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: J Med Genet. 2021 Mar; 58(3): 178–184. Published online 2020 May 19. doi: 10.1136/jmedgenet-2019-106498

PMCID:: PMC7959163

Abstract Article PDF–717K

Select item 795579717.

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

Alessandro Mussa, Kelly A. Duffy, Diana Carli, Giovanni Battista Ferrero, Jennifer M. Kalish

Pediatr Blood Cancer. Author manuscript; available in PMC 2021 Mar 13.

Published in final edited form as: Pediatr Blood Cancer. 2019 Jan; 66(1): e27492. Published online 2018 Sep 30. doi: 10.1002/pbc.27492

PMCID:: PMC7955797

Abstract Article PDF–535K

Select item 791162418.

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Sanaa Choufani, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman, Rosanna Weksberg

Genes (Basel) 2021 Feb; 12(2): 172. Published online 2021 Jan 27. doi: 10.3390/genes12020172

PMCID:: PMC7911624

Abstract Article PDF–2.7M

Select item 784885019.

Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management

Sarah E. Sheppard, Emilie Lalonde, N. Scott Adzick, Anita E. Beck, Tricia Bhatti, Diva D. De Leon, Kelly A. Duffy, Arupa Ganguly, Evan Hathaway, Jianling Ji, Rebecca Linn, Katherine Lord, Linda M. Randolph, Brian Sajorda, Lisa States, Laura K. Conlin, Jennifer M. Kalish

Genet Med. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Genet Med. 2019 Nov; 21(11): 2644–2649. Published online 2019 May 31. doi: 10.1038/s41436-019-0551-9

PMCID:: PMC7848850

Abstract Article PDF–979K

Select item 782062120.

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Chung, Robin D. Clark, Timothy C. Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Jr., Karen W. Gripp, Chad R. Haldeman-Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler-Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda M. Mirzaa, John J. Mulvihill, Malgorzata J.M. Nowaczyk, Roberta A. Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez-Lara, Laurie H. Seaver, Joseph T. Shieh, Anne M. Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen-Hann Tan, Anne C. Tsai, David D. Weaver, Marc S. Williams, Elaine Zackai, Yuri A. Zarate

Am J Hum Genet. 2021 Jan 7; 108(1): 8–15. Published online 2021 Jan 7. doi: 10.1016/j.ajhg.2020.11.013

PMCID:: PMC7820621

Abstract Article PDF–202K

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