Melanie A. Jones

发表

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014, Genetics in Medicine.

Drosophila as a model for age-related impairment in locomotor and other behaviors

M. Grotewiel, Melanie A. Jones, Mike Grotewiel, 2011, Experimental Gerontology.

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

C. Maslen, Melanie A. Jones, E. Goldmuntz, 2003, American journal of human genetics.

Mechanisms of Pharmacological Rescue of Trafficking-defective hERG Mutant Channels in Human Long QT Syndrome*

Melanie A. Jones, Q. Gong, Zhengfeng Zhou, 2006, Journal of Biological Chemistry.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

B. Xia, R. Cummings, M. Hegde, 2016, Clinical chemistry.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1 , Phosphomannomutase 2 , and Phosphomannose Isomerase Deficiencies

B. Xia, R. Cummings, M. Hegde, 2015 .

Lessons from a pair of siblings with BPAN

G. B. Schaefer, Melanie A. Jones, J. Juusola, 2016, European Journal of Human Genetics.

Manipulation of Sod1 expression ubiquitously, but not in the nervous system or muscle, impacts age‐related parameters in Drosophila

I. Martin, M. Grotewiel, Melanie A. Jones, 2009, FEBS letters.

Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG)

M. Hegde, H. Freeze, Melanie A. Jones, 2022 .

Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

R. Louie, Melanie A. Jones, S. McLean, 2021, Molecular cytogenetics.

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

J. Rosenfeld, S. Girirajan, M. Grotewiel, 2014, Biology Open.

Mechanisms Associated with Aging and Age-Related Disease in Drosophila

Melanie A. Jones, 2010 .

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Lora J. H. Bean, M. Hegde, Melanie A. Jones, 2013, Molecular genetics and metabolism.

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome.

A. Moss, D. Tester, M. Ackerman, 2008, Journal of molecular and cellular cardiology.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

M. Hegde, H. Freeze, Melanie A. Jones, 2012, American journal of human genetics.

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

Madhuri R Hegde, M. Hegde, H. Freeze, 2011, Genetics in Medicine.

Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

M. Hegde, Melanie A. Jones, 2013 .

Sod2 knockdown in the musculature has whole-organism consequences in Drosophila.

I. Martin, M. Grotewiel, Melanie A. Jones, 2009, Free radical biology & medicine.

A forward genetic screen in Drosophila implicates insulin signaling in age-related locomotor impairment

J. Gargano, I. Martin, P. Bhandari, 2009, Experimental Gerontology.

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

M. Hegde, H. Freeze, Melanie A. Jones, 2012, American journal of human genetics.

The landscape of BRCA1 and BRCA2 large rearrangements in an international cohort of over 20 000 ovarian tumors identified using next‐generation sequencing

T. Slavin, D. Hodgson, Melanie A. Jones, 2023, Genes, chromosomes & cancer.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .

Dietary restriction alters demographic but not behavioral aging in Drosophila

I. Martin, P. Bhandari, M. Grotewiel, 2007, Aging cell.

A forward genetic screen in Drosophila implicates insulin signaling in age-related locomotor impairment

I. Martin, P. Bhandari, M. Grotewiel, 2009, Experimental Gerontology.

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Lora J. H. Bean, M. Hegde, Melanie A. Jones, 2013, Molecular genetics and metabolism.