Author

Nkecha Hughes

Institution: Children's Hospital of Philadelphia

Observed institution: Children's Hospital of Philadelphia

OpenAlex ID: A5111764755

Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes:HNF1AandHNF4A

2012 · Diana E. Stanescu, Nkecha Hughes, et al. · The Journal of Clinical Endocrinology & Metabolism · 176

GATA6 Plays an Important Role in the Induction of Human Definitive Endoderm, Development of the Pancreas, and Functionality of Pancreatic β Cells

2017 · Amita Tiyaboonchai, Fabian L. Cardenas-Diaz, et al. · Stem Cell Reports · 121

Neonatal Diabetes and Congenital Malabsorptive Diarrhea Attributable to a Novel Mutation in the Human Neurogenin-3 Gene Coding Sequence

2011 · Sara E. Pinney, Jennifer Oliver-Krasinski, et al. · The Journal of Clinical Endocrinology & Metabolism · 91

Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q

2013 · Sara E. Pinney, Karthik Ganapathy, et al. · Hormone Research in Paediatrics · 84

A novel mutation inGATA6causes pancreatic agenesis

2014 · Diana E. Stanescu, Nkecha Hughes, et al. · Pediatric Diabetes · 35

Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters

2008 · Adele Schneider, Tanya M. Bardakjian, et al. · American Journal of Medical Genetics Part A · 31

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

2008 · Jie Zhou, Femida Kherani, et al. · PubMed Central · 30

Hepatocyte Nuclear Factor 4α Gene Mutation Associated with Familial Neonatal Hyperinsulinism and Maturity-Onset Diabetes of the Young

2011 · Mia M. Pingul, Nkecha Hughes, et al. · The Journal of Pediatrics · 22

Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic KATPchannels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits

2012 · Yu-Wen Lin, Alejandro Akrouh, et al. · Channels · 12

Comparison of serum biomarkers of myocardial fibrosis with cardiac magnetic resonance in patients operated for tetralogy of Fallot

2022 · Michael P. DiLorenzo, Grace DeCost, et al. · International Journal of Cardiology · 10

Exploring Serum Biomarker Levels in Tetralogy of Fallot, Hypoplastic Left Heart Syndrome, and Healthy Children

2025 · Ariel Vargas, Jose Galan, et al. · Pediatric Cardiology · 3

Works count: 11

Citation count: 615

H-index: 10

I10-index: 10