Concepedia

Author

Nkecha Hughes

Children's Hospital of Philadelphia

Also Known As

Nkecha Hughes

12

Publications

596

Citations

9

H-Index

14

Concepts

All Affiliations

Children's Hospital of PhiladelphiaUniversity of PennsylvaniaPhiladelphia University
NH

About

Nkecha Hughes is an author at Children's Hospital of Philadelphia specializing in inherited metabolic disease, pathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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57

2

Health Sciences

1

1

22

3

Diabetes

1

1

22

4

Gastroenterology

1

1

35

5

Molecular Genetics

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1

35

Nkecha Hughes

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9

Publications

590

Citations

9

H-Index

YearCitations

Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes:<i>HNF1A</i>and<i>HNF4A</i>

Diana E. Stanescu, Nkecha Hughes, Bernard Kaplan,

The Journal of Clinical Endocrinology & Metabolism

2012

166

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

Amita Tiyaboonchai, Fabian L. Cardenas‐Diaz, Lei Ying,

Stem Cell Reports

2017

119

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

Sara E. Pinney, Jennifer Oliver‐Krasinski, Linda M. Ernst,

The Journal of Clinical Endocrinology & Metabolism

2011

95

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

Sara E. Pinney, Karthik Ganapathy, Jonathan P. Bradfield,

Hormone Research in Paediatrics

2013

80

A novel mutation in<i>GATA6</i>causes pancreatic agenesis

Diana E. Stanescu, Nkecha Hughes, Puja Patel,

Pediatric Diabetes

2014

35

Familial recurrence of <i>SOX2</i> anophthalmia syndrome: Phenotypically normal mother with two affected daughters

Adele Schneider, Tanya Bardakjian, Jie Zhou,

American Journal of Medical Genetics Part A

2008

31

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

Jie Zhou, Femida Kherani, Tanya Bardakjian,

PubMed

2008

30

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

Mia M. Pingul, Nkecha Hughes, Anthony Wu,

The Journal of Pediatrics

2011

22

Compound heterozygous mutations in the SUR1 (<i>ABCC 8</i>) subunit of pancreatic K<sub>ATP</sub>channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits

Yu‐Wen Lin, Alejandro Akrouh, YeouChing Hsu,

Channels

2012

12

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