Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nat Rev Endocrinol 14 (4), 229-249, 2018 | 492* | 2018 |
Beckwith-wiedemann syndrome C Shuman, JB Beckwith, R Weksberg | 232 | 2016 |
Surveillance recommendations for children with overgrowth syndromes and predisposition to Wilms tumors and hepatoblastoma JM Kalish, L Doros, LJ Helman, RC Hennekam, RP Kuiper, SM Maas, ... Clinical Cancer Research 23 (13), e115-e122, 2017 | 186 | 2017 |
Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk A Villani, MLC Greer, JM Kalish, A Nakagawara, KL Nathanson, ... Clinical Cancer Research 23 (12), e83-e90, 2017 | 155 | 2017 |
Epigenetics and imprinting in human disease JM Kalish, C Jiang, MS Bartolomei The International journal of developmental biology 58 (2-3-4), 291-298, 2014 | 142 | 2014 |
Diagnosis and management of Beckwith-Wiedemann syndrome KH Wang, J Kupa, KA Duffy, JM Kalish Frontiers in pediatrics 7, 478093, 2020 | 123 | 2020 |
A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 120 | 2021 |
Targeted genome modification via triple helix formation JM Kalish, PM Glazer Annals of the New York Academy of Sciences 1058 (1), 151-161, 2005 | 100 | 2005 |
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome JM Kalish, KE Boodhansingh, TR Bhatti, A Ganguly, LK Conlin, SA Becker, ... Journal of Medical Genetics 53 (1), 53-61, 2016 | 94 | 2016 |
Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management KA Duffy, CM Cielo, JL Cohen, CX Gonzalez‐Gandolfi, JR Griff, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 87 | 2019 |
Overgrowth syndromes AC Edmondson, JM Kalish Journal of pediatric genetics 4 (03), 136-143, 2015 | 78 | 2015 |
Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy JM Kalish, LK Conlin, TR Bhatti, HA Dubbs, MC Harris, K Izumi, ... American journal of medical genetics Part A 161 (8), 1929-1939, 2013 | 77 | 2013 |
Triplex-induced recombination and repair in the pyrimidine motif JM Kalish, MM Seidman, DL Weeks, PM Glazer Nucleic acids research 33 (11), 3492-3502, 2005 | 54 | 2005 |
Triplex-stimulated intermolecular recombination at a single-copy genomic target MP Knauert, JM Kalish, DC Hegan, PM Glazer Molecular Therapy 14 (3), 392-400, 2006 | 50 | 2006 |
Diagnosis of Beckwith–Wiedemann syndrome in children presenting with Wilms tumor SP MacFarland, KA Duffy, TR Bhatti, R Bagatell, NJ Balamuth, ... Pediatric blood & cancer 65 (10), e27296, 2018 | 49 | 2018 |
Nomenclature and definition in asymmetric regional body overgrowth JM Kalish, LG Biesecker, F Brioude, MA Deardorff, A Di Cesare‐Merlone, ... American Journal of Medical Genetics Part A 173 (7), 1735-1738, 2017 | 49 | 2017 |
Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant P Ginart, JM Kalish, CL Jiang, CY Alice, MS Bartolomei, A Raj Genes & Development 30 (5), 567-578, 2016 | 46 | 2016 |
Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome Y Li, DE Hagen, T Ji, MR Bakhtiarizadeh, WM Frederic, EM Traxler, ... Epigenetics 14 (9), 850-876, 2019 | 38 | 2019 |
Molecular diagnosis of somatic overgrowth conditions: A single‐center experience E Lalonde, J Ebrahimzadeh, K Rafferty, J Richards‐Yutz, R Grant, ... Molecular Genetics & Genomic Medicine 7 (3), e536, 2019 | 36 | 2019 |
Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen? JM Kalish, MA Deardorff American Journal of Medical Genetics Part A 170 (9), 2261-2264, 2016 | 36 | 2016 |