Keck School Faculty

Emma Duncan
Emma Duncan
Instructor of Clinical Neurology
Neurology
1520 San Pablo Street Health Sciences Campus Los Angeles

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese originNeurobiol Aging. 2015 Dec; 36(12):3334. e1-3334. e5. . View in PubMed

Response to Comment on Johnson et alCost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life. Diabetes Care 2019;42:69-76. Diabetes Care. 2019 May; 42(5):e79-e80. . View in PubMed

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort Pediatr Diabetes. 2019 02; 20(1):57-64. . View in PubMed

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life Diabetes Care. 2019 01; 42(1):69-76. . View in PubMed

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing J Endocr Soc. 2019 Jan 01; 3(1):201-221. . View in PubMed

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene N Engl J Med. 2019 06 27; 380(26):2583. . View in PubMed

Atypical Femoral Fracture: A Fascinating Story in Evolution J Bone Miner Res. 2018 Dec; 33(12):2089-2090. . View in PubMed

HLA and KIR Associations of Cervical Neoplasia J Infect Dis. 2018 Nov 05; 218(12):2006-2015. . View in PubMed

Bayesian approach to determining penetrance of pathogenic SDH variants J Med Genet. 2018 Nov; 55(11):729-734. . View in PubMed

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family J Diabetes. 2018 Sep; 10(9):764-767. . View in PubMed

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype J Bone Miner Res. 2018 Jul; 33(7):1260-1271. . View in PubMed

Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes Bone. 2018 09; 114:62-71. . View in PubMed

A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms Pediatr Diabetes. 2018 08; 19(5):905-909. . View in PubMed

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism Pediatr Diabetes. 2018 06; 19(4):656-662. . View in PubMed

Point mutation in p14ARF -specific exon 1ß of CDKN2A causing familial melanoma and astrocytoma Br J Dermatol. 2018 04; 178(4):e263-e264. . View in PubMed

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density Ann Rheum Dis. 2018 03; 77(3):378-385. . View in PubMed

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data Circ Genom Precis Med. 2018 03; 11(3):e001978. . View in PubMed

The physiological and glycaemic changes in breastfeeding women with type 1 diabetes mellitus Diabetes Res Clin Pract. 2018 Jan; 135:93-101. . View in PubMed

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia Blood Cancer J. 2018 06 01; 8(6):50. . View in PubMed

Diagnostic yield of cardiovascular magnetic resonance in young-middle aged patients with high-grade atrio-ventricular block Int J Cardiol. 2017 Oct 01; 244:335-339. . View in PubMed

Characterization of Normal Murine Carpal Bone Development Prompts Re-Evaluation of Pathologic Osteolysis as the Cause of Human Carpal-Tarsal Osteolysis Disorders Am J Pathol. 2017 Sep; 187(9):1923-1934. . View in PubMed

Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery Clin Endocrinol (Oxf). 2017 Jul; 87(1):35-43. . View in PubMed

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia Clin Genet. 2017 Jul; 92(1):91-98. . View in PubMed

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum Am J Med Genet A. 2017 Jun; 173(6):1698-1704. . View in PubMed

Conclusions and future directions: 'The known unknowns … ' Nephrology (Carlton). 2017 03; 22 Suppl 2:70-71. . View in PubMed

NAD Deficiency, Congenital Malformations, and Niacin Supplementation N Engl J Med. 2017 08 10; 377(6):544-552. . View in PubMed

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function Sci Rep. 2016 Apr 20; 6:24083. . View in PubMed

Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases J Bone Miner Res. 2016 Mar; 31(3):640-9. . View in PubMed

Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma J Clin Endocrinol Metab. 2016 Mar; 101(3):1034-43. . View in PubMed

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies J Bone Miner Res. 2016 Feb; 31(2):358-68. . View in PubMed

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families Hum Mutat. 2016 07; 37(7):695-702. . View in PubMed

Glycaemic behaviour during breastfeeding in women with Type 1 diabetes Diabet Med. 2016 07; 33(7):947-55. . View in PubMed

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia J Med Genet. 2016 07; 53(7):457-64. . View in PubMed

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease NPJ Genom Med. 2016; 1:16008. . View in PubMed

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis Genes Immun. 2016 Jan-Feb; 17(1):46-51. . View in PubMed

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia Am J Hum Genet. 2016 08 04; 99(2):392-406. . View in PubMed

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies Clin Genet. 2015 Dec; 88(6):550-7. . View in PubMed

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture Nature. 2015 Oct 01; 526(7571):112-7. . View in PubMed

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies Hum Mol Genet. 2015 Aug 15; 24(16):4710-27. . View in PubMed

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? Clin Genet. 2015 Jul; 88(1):49-55.. View in PubMed

The genetics of osteoporosis Br Med Bull. 2015 Mar; 113(1):73-81. . View in PubMed

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects Hum Mol Genet. 2015 Mar 01; 24(5):1234-42. . View in PubMed

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion Cell Metab. 2015 Feb 03; 21(2):262-273. . View in PubMed

Osteoporosis medication dispensing for older Australian women from 2002 to 2010: influences of publications, guidelines, marketing activities and policy Pharmacoepidemiol Drug Saf. 2014 Dec; 23(12):1303-11. . View in PubMed

The revolution in human monogenic disease mapping Genes (Basel). 2014 Sep 05; 5(3):792-803. . View in PubMed

Prevalence and significance of early repolarization in patients presenting with syncope Int J Cardiol. 2014 Sep; 176(1):298-9. . View in PubMed

Elevated circulating Sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations J Clin Endocrinol Metab. 2014 Aug; 99(8):2897-907. . View in PubMed

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium Hum Mol Genet. 2014 Jun 01; 23(11):3054-68. . View in PubMed

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density Hum Mol Genet. 2014 Apr 01; 23(7):1923-33. . View in PubMed

The IFITM5 mutation c-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskelet Disord. 2014 Mar 27; 15:107. . View in PubMed

Screening for atrial fibrillation in patients with obstructive sleep apnoea to reduce ischaemic strokes Int J Cardiol. 2014 Mar 15; 172(2):297-8. . View in PubMed

A brilliant breakthrough in OI type V Osteoporos Int. 2014 Feb; 25(2):399-405. . View in PubMed

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus Bone. 2014 Feb; 59:20-7. . View in PubMed

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery Osteoporos Int. 2014 Feb; 25(2):407-22. . View in PubMed

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas Clin Endocrinol (Oxf). 2014 Jan; 80(1):25-33. . View in PubMed

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy Am J Hum Genet. 2013 Nov 07; 93(5):932-44. . View in PubMed

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans Am J Hum Genet. 2013 Nov 07; 93(5):915-25. . View in PubMed

Primary amenorrhoea with hypertension: undiagnosed 17-a-hydroxylase deficiency Med J Aust. 2013 Oct 21; 199(8):556-8. . View in PubMed

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60 Am J Hum Genet. 2013 Sep 05; 93(3):515-23. . View in PubMed

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways BMC Med. 2013 Aug 28; 11:188. . View in PubMed

Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm J Med Genet. 2013 Jul; 50(7):473-8. . View in PubMed

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6 Hum Mol Genet. 2013 Apr 15; 22(8):1625-31. . View in PubMed

Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT J Clin Endocrinol Metab. 2013 Feb; 98(2):687-94. . View in PubMed

Analysis of body composition in individuals with high bone mass reveals a marked increase in fat mass in women but not men J Clin Endocrinol Metab. 2013 Feb; 98(2):818-28. . View in PubMed

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome Bonekey Rep. 2013; 2:456. . View in PubMed

Vitamin D does not improve the metabolic health of patients with chronic kidney disease stage 3-4: a randomized controlled trial Nephrology (Carlton). 2013 Jan; 18(1):26-35. . View in PubMed

Association of FOXE1 polyalanine repeat region with papillary thyroid cancer J Clin Endocrinol Metab. 2012 Sep; 97(9):E1814-9. . View in PubMed

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk PLoS Genet. 2012 Jul; 8(7):e1002745. . View in PubMed

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture Nat Genet. 2012 Apr 15; 44(5):491-501. . View in PubMed

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB Am J Hum Genet. 2012 Mar 09; 90(3):494-501. . View in PubMed

'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass Osteoporos Int. 2012 Feb; 23(2):643-54. . View in PubMed

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists Osteoporos Int. 2012 Jan; 23(1):285-94. . View in PubMed

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk PLoS Genet. 2011 Apr; 7(4):e1001372. . View in PubMed

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia PLoS Genet. 2011 Mar; 7(3):e1002027. . View in PubMed

Marked increase in proton pump inhibitors use in Australia Pharmacoepidemiol Drug Saf. 2010 Oct; 19(10):1019-24. . View in PubMed

Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions J Clin Endocrinol Metab. 2010 Jun; 95(6):2576-87. . View in PubMed

Mapping genes for osteoporosis--old dogs and new tricks Bone. 2010 May; 46(5):1219-25. . View in PubMed

Secondary prevention of osteoporosis in Australia: analysis of government-dispensed prescription data Drugs Aging. 2010 Mar 01; 27(3):255-64. . View in PubMed

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci Nat Genet. 2010 Feb; 42(2):123-7. . View in PubMed

The role of 25-hydroxyvitamin D deficiency in promoting insulin resistance and inflammation in patients with chronic kidney disease: a randomised controlled trial BMC Nephrol. 2009 Dec 10; 10:41. . View in PubMed

Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population Arthritis Rheum. 2009 Nov; 60(11):3263-8. . View in PubMed

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood Hum Mol Genet. 2009 Apr 15; 18(8):1510-7. . View in PubMed

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes J Bone Miner Res. 2008 Apr; 23(4):499-506. . View in PubMed

Genetic studies in osteoporosis--the end of the beginning Arthritis Res Ther. 2008; 10(5):214. . View in PubMed

PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton Calcif Tissue Int. 2007 Oct; 81(4):270-8. . View in PubMed

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass J Bone Miner Res. 2007 Feb; 22(2):173-183. . View in PubMed

Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis Osteoporos Int. 2006 Jan; 17(1):125-32. . View in PubMed

Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study Hum Mol Genet. 2005 Apr 01; 14(7):943-51. . View in PubMed

Influence of LRP5 polymorphisms on normal variation in BMD J Bone Miner Res. 2004 Oct; 19(10):1619-27. . View in PubMed

Site and gender specificity of inheritance of bone mineral density J Bone Miner Res. 2003 Aug; 18(8):1531-8. . View in PubMed

Bone mineral density in adults with Marfan syndrome Rheumatology (Oxford). 2000 Mar; 39(3):307-9. . View in PubMed

Suggestive linkage of the parathyroid receptor type 1 to osteoporosis J Bone Miner Res. 1999 Dec; 14(12):1993-9. . View in PubMed

Genetic studies of osteoporosis Expert Rev Mol Med. 1999 Oct 19; 1999:1-18. . View in PubMed

Investigation protocol: acromegaly and its investigation Clin Endocrinol (Oxf). 1999 Mar; 50(3):285-93. . View in PubMed

Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment Arthritis Rheum. 1997 Oct; 40(10):1823-8. . View in PubMed

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