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Jennifer M Kalish
Jennifer M Kalish
Children's Hospital of Philadelphia
Email verificata su email.chop.edu
Titolo
Citata da
Citata da
Anno
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
469*2018
Beckwith-wiedemann syndrome
C Shuman, JB Beckwith, R Weksberg
2252016
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
1762017
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
1482017
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
1392014
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
1162021
Diagnosis and management of Beckwith-Wiedemann syndrome
KH Wang, J Kupa, KA Duffy, JM Kalish
Frontiers in pediatrics 7, 562, 2020
1122020
Targeted genome modification via triple helix formation
JM Kalish, PM Glazer
Annals of the New York Academy of Sciences 1058 (1), 151-161, 2005
1002005
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
872016
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
802019
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
782013
Overgrowth syndromes
AC Edmondson, JM Kalish
Journal of pediatric genetics, 136-143, 2015
752015
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
542005
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
492017
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
492006
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
462018
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
462016
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
372019
Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting
O Symmons, M Chang, IA Mellis, JM Kalish, J Park, K Suszták, ...
PLoS Genetics 15 (1), e1007874, 2019
352019
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
342019
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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