D. Cole

J. Richards, Z. Dastani, D. Cole, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Vitamin D status in primary hyperparathyroidism: effect of genetic background

M. Copetti, A. Fontana, M. Garrubba, 2016, Endocrine.

Vitamin B12 and homocysteine

D. Cole, J. Ray, 2005, Canadian Medical Association Journal.

Ancient human genomes suggest three ancestral populations for present-day Europeans

B. Berger, M. Hammer, E. Eichler, 2013, Nature.

Azathioprine and diffuse alveolar haemorrhage: the pharmacogenetics of thiopurine methyltransferase

N. Adhikari, D. Cole, O. Friedman, 2007, European Respiratory Journal.

Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.

G. Hendy, D. Cole, 2013, The Journal of clinical endocrinology and metabolism.

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

J. Hirschhorn, S. Abrams, A. Dauber, 2012, The Journal of clinical endocrinology and metabolism.

Stage Dependence, Cell-Origin Independence, and Prognostic Capacity of Serum Glycan Fucosylation, β1-4 Branching, β1-6 Branching, and α2-6 Sialylation in Cancer.

Xifeng Wu, T. Ho, K. Anderson, 2018, Journal of proteome research.

Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus.

D. Cole, A. Shuen, C. Wei, 2009, Clinica chimica acta; international journal of clinical chemistry.

A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

G. Hendy, D. Cole, M. Geffner, 2006, The Journal of clinical endocrinology and metabolism.

Urinary N-telopeptide is a rapid predictor of response to and palliative benefit from bisphosphonate therapy in patients with metastatic breast cancer.

G. Dranitsaris, M. Clemons, D. Cole, 2007, Supportive cancer therapy.

Greater Maternal Weight and the Ongoing Risk of Neural Tube Defects After Folic Acid Flour Fortification

D. Cole, J. Ray, M. Vermeulen, 2005, Obstetrics and gynecology.

External Quality Assessment of HLA-B*5701 Reporting: An International Multicentre Survey

S. Mallal, M. Gill, C. Mamotte, 2007, Antiviral therapy.

G protein-coupled receptors disrupted in human genetic disease.

M. Thompson, D. Cole, M. Percy, 2008, Methods in molecular biology.

Associations of circulating 25(OH)D with cardiometabolic disorders underlying type 2 diabetes mellitus in an Aboriginal Canadian community.

B. Zinman, A. Badawi, A. Hanley, 2015, Diabetes research and clinical practice.

Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia

A. Innes, D. Cole, J. Ho, 2010, Journal of pediatric endocrinology & metabolism : JPEM.

Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing.

M. Corey, D. Hamilton, D. Cole, 2005, The Journal of pediatrics.

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

F. Hildebrandt, Y. Pei, N. He, 2006, Clinical journal of the American Society of Nephrology : CJASN.

Recessive NPHS 2 ( Podocin ) Mutations Are Rare in Adult-Onset Idiopathic Focal Segmental Glomerulosclerosis

F. Hildebrandt, Y. Pei, N. He, 2006 .

Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

E. Brown, S. Quinn, G. Hendy, 1997, The Journal of clinical investigation.

Increased sweat sulfate concentrations in chronic renal failure.

D. Cole, M. Boucher, 1986, Nephron.

Pyridoxine improves endothelial function in cardiac transplant recipients.

H. Ross, D. Cole, S. Hutchison, 2001, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Update on parathyroid hormone: new tests and new challenges for external quality assessment.

D. Cole, P. Chan, S. Webb, 2007, Clinical biochemistry.

Whole genome amplification of buccal cell DNA: genotyping concordance before and after multiple displacement amplification

K. Siminovitch, T. Rohan, Helen Yu, 2005, Clinical chemistry and laboratory medicine.

Correlation between total homocysteine and cyclosporine concentrations in cardiac transplant recipients.

H. Ross, D. Cole, L. Langman, 1998, Clinical chemistry.

Cobalamin deficiency in elderly patients

D. Cole, J. Ray, 2005, Canadian Medical Association Journal.

A new look at craniometaphyseal dysplasia.

D. Cole, M. Cohen, 1988, The Journal of pediatrics.

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Z. Pausova, G. Hendy, D. Cole, 1995, American journal of human genetics.

Metabolic Syndrome features and risk of neural tube defects

M. Thompson, A. Summers, D. Cole, 2007, BMC pregnancy and childbirth.

Endogenous thyrotropin-releasing hormone in the anterior pituitary: sites of activity as identified by immunocytochemical staining.

M. Kubek, G. Childs, J. Wilber, 1978, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Vitamin B-12 and neural tube defects: the Canadian experience.

M. Thompson, D. Cole, J. Ray, 2009, The American journal of clinical nutrition.

X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization.

F. Glorieux, P. Marie, D. Cole, 1981, The Journal of clinical endocrinology and metabolism.

Serum osteocalcin in the treatment of inherited rickets with 1,25-dihydroxyvitamin D3.

J. Lian, P. Gallop, D. Cole, 1983, The Journal of clinical endocrinology and metabolism.

Association of Directly Measured Plasma Free 25(OH)D With Insulin Sensitivity and Secretion: The IRAS Family Study

J. Rotter, J. Norris, S. Haffner, 2017, The Journal of clinical endocrinology and metabolism.

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.

O. Mäkitie, M. Välimäki, G. Hendy, 2015, The Journal of clinical endocrinology and metabolism.

Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.

G. Hendy, D. Cole, L. Canaff, 2014, The Journal of clinical endocrinology and metabolism.

Re: Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.

C. Marcocci, F. Cetani, M. Bisceglia, 2008, Surgery.

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

S. Rahman, M. Konrad, S. Waldegger, 2005, Journal of the American Society of Nephrology : JASN.

Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.

F. Glorieux, P. Marie, D. Cole, 1983, American journal of medical genetics.

Parathyroid carcinoma.

F. Cetani, V. Nicastro, A. Scillitani, 2018, Best practice & research. Clinical endocrinology & metabolism.

Serum osteocalcin concentrations in children with metabolic bone disease.

D. Cole, C. Gundberg, T. Carpenter, 1985, The Journal of pediatrics.

The development and evaluation of a food frequency questionnaire used in assessing vitamin D intake in a sample of healthy young Canadian adults of diverse ancestry.

E. Parra, D. Cole, R. Vieth, 2009, Nutrition research.

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case

P. Graziano, E. Maiello, G. Hendy, 2017, Endocrine connections.

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Xiaoping Zhou, G. Hendy, A. Scillitani, 2008, Journal of molecular endocrinology.

Quantitation of sulfate and thiosulfate in clinical samples by ion chromatography.

D. Cole, J. Evrovski, 1997, Journal of chromatography. A.

Common genetic variants of the vitamin D binding protein (DBP) predict differences in response of serum 25-hydroxyvitamin D [25(OH)D] to vitamin D supplementation.

D. Cole, R. Vieth, B. Wong, 2009, Clinical biochemistry.

Declining Rate of Folate Insufficiency Among Adults Following Increased Folic Acid Food Fortification in Canada

D. Cole, J. Ray, M. Vermeulen, 2002, Canadian journal of public health = Revue canadienne de sante publique.

Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation

I. Andrulis, H. Ozçelik, D. Cole, 1996, Human Genetics.

Effect of high-dose vitamin D supplementation on radiographically detectable bone disease of very low birth weight infants.

M. Raad, A. Allen, D. Cole, 1989, The Journal of pediatrics.

Association with replication between estrogen‐related receptor γ (ESRRγ) Polymorphisms and bone phenotypes in women of European ancestry

A. Bureau, D. Cole, F. Rousseau, 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Associations of the Collagen Type Iα1 Sp1 Polymorphism with Five-Year Rates of Bone Loss in Older Adults

B. Dawson-Hughes, D. Cole, M. Patel, 2000, Calcified Tissue International.

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

G. Hendy, D. Cole, L. Canaff, 2014, Bone.

Neonatal Hyperparathyroidism and Pamidronate Therapy in an Extremely Premature Infant

E. Wiltshire, D. Cole, A. Kidd, 2007, Pediatrics.

Characterization of additional vitamin D binding protein variants

Douglas S Rehder, D. Cole, C. Borges, 2016, The Journal of Steroid Biochemistry and Molecular Biology.

Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism.

D. A. Gillis, E. Brown, D. Cole, 1986, The Journal of clinical endocrinology and metabolism.

Glial Cells Missing‐2 (GCM2) transactivates the calcium‐sensing receptor gene: effect of a dominant‐negative GCM2 mutant associated with autosomal dominant hypoparathyroidism

Xiaoping Zhou, G. Hendy, D. Cole, 2009, Human mutation.

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

E. Brown, M. Brandi, G. Hendy, 1994, The Journal of clinical investigation.

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

J. Seidman, E. Brown, C. Seidman, 1995, Pediatric Nephrology.

Sporadic and MEN1‐Related Primary Hyperparathyroidism: Differences in Clinical Expression and Severity

I. Chiodini, A. Scillitani, D. Cole, 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

M. A. Carbone, D. Cole, C. Greenberg, 1998, American journal of human genetics.

DiGeorge's syndrome in monozygotic twins. Treatment with calcitriol.

D. Cole, J. D. Miller, H. Guyda, 1983, American journal of diseases of children.

The comparative toxicity of vitamin D metabolites in the weanling mouse.

D. Cole, J. Crocker, D. C. Hamilton, 1985, Toxicology and applied pharmacology.

The effect of radiation therapy on the kinetics of in vitro lymphocyte response to mitogens.

D. Cole, J. Stratton, P. Byfield, 1976, Clinical immunology and immunopathology.

Mild infantile hypercalcemia: diagnostic tests and outcomes.

D. Cole, E. Sochett, M. Rachmiel, 2011, The Journal of pediatrics.

Homocysteine: cholesterol of the 90s?

D. Cole, L. Langman, David E. C. Cole, 1999, Clinica chimica acta; international journal of clinical chemistry.

Homocysteine as a risk factor in cardiovascular disease.

D. Cole, 2001, Advances in experimental medicine and biology.

Hyperhomocysteinemia and transplant coronary artery disease in cardiac transplant recipients

A. Verma, H. Ross, D. Cole, 2001, Clinical transplantation.

Predictors of 25-Hydroxyvitamin D Concentration Measured at Multiple Time Points in a Multiethnic Population

Tim K. Lee, E. Parra, J. Knight, 2017, American journal of epidemiology.

Relationship of the human growth hormone receptor exon 3 genotype with final adult height and bone mineral density.

D. Cole, C. Goodyer, Z. Shao, 2007, The Journal of clinical endocrinology and metabolism.

Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.

C. Marcocci, F. Cetani, G. Hendy, 2014, The Journal of clinical endocrinology and metabolism.

Relationship of total and free 25-hydroxyvitamin D to biomarkers and metabolic indices in healthy children.

D. Vanderschueren, R. Bouillon, D. Cole, 2019, The Journal of clinical endocrinology and metabolism.

Changing osteocalcin concentrations during pregnancy and lactation: implications for maternal mineral metabolism.

S. Atkinson, D. Cole, D. Hanley, 1987, The Journal of clinical endocrinology and metabolism.

Schimke immuno-osseous dysplasia: case report and review.

D. Cole, M. Cohen, M. Ludman, 1993, American journal of medical genetics.

Mucolipidosis II presenting as severe neonatal hyperparathyroidism

D. Cole, N. Braverman, E. Sochett, 2005, European Journal of Pediatrics.

BRIEF REPORT Relationship of the Human Growth Hormone Receptor Exon 3 Genotype with Final Adult Height and Bone Mineral Density

D. Cole, C. Goodyer, Z. Shao, 2007 .

G protein-coupled receptor mutations and human genetic disease.

M. Thompson, D. Bichet, G. Hendy, 2014, Methods in molecular biology.

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.

G. Hendy, D. Cole, S. Salisbury, 1997, American journal of medical genetics.

Severe cleidocranial dysplasia can mimic hypophosphatasia

S. Mundlos, D. Cole, S. Blaser, 2002, European Journal of Pediatrics.

Changes in serum osteocalcin associated with parathyroid hormone infusion in X-linked hypophosphatemic rickets.

D. Cole, C. Gundberg, 1985, Clinica chimica acta; international journal of clinical chemistry.

Teriparatide, osteoporosis, calcium, and vitamin D.

D. Cole, R. Vieth, 2005, The New England journal of medicine.

Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.

G. Hendy, D. Cole, C. Reh, 2011, The Journal of clinical endocrinology and metabolism.

Quantitative assay of plasma homocysteine thiolactone by gas chromatography/mass spectrometry.

D. Cole, M. Yazdanpanah, C. Cuthbert, 2003, Rapid communications in mass spectrometry : RCM.

Effects of folic acid fortification and multivitamin therapy on homocysteine and vitamin b12 status in cardiac transplant recipients

S. Miriuka, H. Ross, D. Cole, 2004 .

Novel association of MEN1 gene mutations with parathyroid carcinoma

C. Marcocci, F. Cetani, E. Maiello, 2017, Oncology letters.

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort

M. Carella, E. Maiello, M. Bisceglia, 2012, Cellular Oncology.

Quantitating the effect of cystic fibrosis on linear growth by mathematical modelling of longitudinal growth curves.

D. Cole, C. T. Gillespie, J. Fahey, 1989, Growth, development, and aging : GDA.

Effects of Mutant Gene Dosage on Phenotype

J. Seidman, E. Brown, C. Seidman, 2016 .

Clearance of Osteocalcin by Peritoneal Dialysis in Children with End-Stage Renal Disease

R. Hanning, J. Balfe, D. Cole, 1987, Pediatric Research.

Increased inorganic sulfate in mother and fetus at parturition: evidence for a fetal-to-maternal gradient.

D. Cole, L. Stirk, L. S. Baldwin, 1984, American journal of obstetrics and gynecology.

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.

E. Brown, G. Hendy, D. Cole, 2002, The Journal of clinical endocrinology and metabolism.

An acceptor splice site mutation in the calcium‐sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

G. Hendy, D. Cole, L. Canaff, 2001, Human mutation.

Evaluation of bone and mineral disorders.

D. Cole, T. Carpenter, Laleh Ardeshirpour, 2007, Pediatric endocrinology reviews : PER.

Serum voriconazole level variability in patients with hematological malignancies receiving voriconazole therapy

Deepali Kumar, E. Atenafu, D. Cole, 2014, The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale.

Thromboembolism in Heart Transplantation: Role of Prothrombin G20210A and Factor V Leiden

S. Miriuka, H. Ross, D. Cole, 2005 .

Thromboembolism in heart transplantation: role of prothrombin G20210A and factor V Leiden.

S. Miriuka, H. Ross, D. Cole, 2005, Transplantation.

Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor.

L. Muscarella, G. Hendy, I. Chiodini, 2007, The Journal of clinical endocrinology and metabolism.

CHAPTER 27 – Hypophosphatasia

D. Cole, 2003 .

Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts.

D. Cole, M. Whyte, K. Fedde, 1990, American journal of human genetics.

Role of albumin-enriched peritoneal dialysate in acute copper poisoning.

D. Cole, D. Lirenman, 1978, The Journal of pediatrics.

Simplified simultaneous assay of total plasma homocysteine and methionine by HPLC and pulsed integrated amperometry.

D. Cole, D. Lehotay, J. Evrovski, 1998, Clinical chemistry.

The Clinical Chemistry of Inorganic Sulfate

D. Cole, D. E. Cole, J. Evrovski, 2000, Critical reviews in clinical laboratory sciences.

Regulation of sulfur amino acid metabolism in men in response to changes in sulfur amino acid intakes.

D. Cole, R. Ball, P. Pencharz, 2003, The Journal of nutrition.

Hyperhomocyst(e)inemia and the increased risk of venous thromboembolism: more evidence from a case-control study.

D. Cole, L. Langman, J. Ray, 2000, Archives of internal medicine.

Clinical chemistry and molecular biology of homocysteine metabolism: an update.

D. Cole, D. Cole, S. Miner, 1997, Clinical biochemistry.

Determination of homocysteine by HPLC with pulsed integrated amperometry.

D. Cole, M. Callaghan, J. Evrovski, 1995, Clinical chemistry.

Urinary thiosulfate determined by suppressed ion chromatography with conductimetric detection.

D. Cole, R. Pirone, J. Evrovski, 1995, Journal of chromatography. B, Biomedical applications.

Pharmacogenetics of the G protein-coupled receptors.

Brinda K Rana, K. Siminovitch, M. Thompson, 2014, Methods in molecular biology.

G protein-coupled receptor pharmacogenetics.

K. Siminovitch, M. Thompson, D. Cole, 2008, Methods in molecular biology.

Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.

K. Siminovitch, G. Hendy, D. Cole, 2007, Clinical biochemistry.

Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.

L. Muscarella, G. Hendy, A. Scillitani, 2004, The Journal of clinical endocrinology and metabolism.

A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations

G. Hawker, G. Hendy, D. Cole, 1999, The Lancet.

Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene

D. Cusi, G. Hendy, A. Scillitani, 2015, Journal of Nephrology.

Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism.

G. Hendy, I. Chiodini, A. Scillitani, 2014, European journal of endocrinology.

Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism.

D. Cusi, G. Hendy, A. Scillitani, 2011, European journal of endocrinology.

Screening for sulfite oxidase deficiency with urinary thiosulfate/sulfate ratios determined by anion chromatography.

D. Cole, J. Evrovski, 1996, Clinical chemistry.

Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone.

J B Lian, J. Lian, P. Hauschka, 1989, Physiological reviews.

The comparative effects of feeding ammonium carbonate, ammonium sulfate, and ammonium chloride on urinary calcium excretion in the rat.

D. Cole, S. Whiting, Susan J. Whiting, 1987, Canadian journal of physiology and pharmacology.

Increased sulfate as an etiological factor in the hypercalciuria associated with total parenteral nutrition.

D. Cole, S. Zlotkin, 1983, The American journal of clinical nutrition.

Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

M. Thompson, D. Cole, M. Percy, 2006, Pediatric neurology.

Effect of dietary anion composition on acid-induced hypercalciuria in the adult rat.

D. Cole, S. Whiting, 1986, The Journal of nutrition.

Common variants of the vitamin D binding protein gene and adverse health outcomes

D. Cole, A. Gozdzik, M. Karmali, 2013, Critical reviews in clinical laboratory sciences.

First identification of a gene defect for hypophosphatasia: evidence that alkaline phosphatase acts in skeletal mineralization.

H. Harris, M. Weiss, K. Ray, 1989, Connective tissue research.

Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy.

S. Tavaré, M. Batzer, D. Labuda, 1999, Genetics.

Origins of recognizable syndromes: etiologic and pathogenetic mechanisms and the process of syndrome delineation.

D. Cole, M. Cohen, 1989, The Journal of pediatrics.

Transient hyperphosphatasemia in a child with autosomal recessive vitamin D dependency.

D. Cole, 1986, Clinical chemistry.

Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.

W. Seltzer, D. Cole, S. Salisbury, 1994, Clinical chemistry.

Determination of inorganic sulfate in human saliva and sweat by controlled-flow anion chromatography. Normal values in adult humans.

D. Cole, D. Landry, 1985, Journal of chromatography.

Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity.

David Modiano, Damian Labuda, M. Batzer, 2003, American journal of human genetics.

Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

D. Cole, S. Fukuda, S. Tomatsu, 1996, American journal of medical genetics.

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.

J. Weissenbach, D. Labuda, F. Glorieux, 1996, American journal of human genetics.

G-Protein-Coupled Receptors and Asthma Endophenotypes

Y. Bossé, T. Hudson, K. Siminovitch, 2012, Molecular Diagnosis & Therapy.

A functional G300S variant of the cysteinyl leukotriene 1 receptor is associated with atopy in a Tristan da Cunha isolate

K. Siminovitch, N. Zamel, M. Thompson, 2007, Pharmacogenetics and genomics.

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

M. Lawson, M. Vikkula, B. Olsen, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Glucocorticoid-induced polycystic kidney disease--a threshold trait.

D. Cole, S. Blecher, J. Crocker, 1990, Kidney international.

Type 2 diabetes mellitus and inflammation: Prospects for biomarkers of risk and nutritional intervention

Mohamed Karmali, Ahmed El-Sohemy, Alaa Badawi, 2010, Diabetes, metabolic syndrome and obesity : targets and therapy.

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

G. Hendy, A. Scillitani, D. Cole, 2017, BMC Medical Genetics.

Genetic defects associated with familial and sporadic hyperparathyroidism.

G. Hendy, D. Cole, 2013, Frontiers of hormone research.

Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.

D. Cole, T. Carpenter, E. C. Cole, 1987, The Journal of pediatrics.

Inherited disorders of renal magnesium handling.

D. Cole, G. Quamme, David E. C. Cole, 2000, Journal of the American Society of Nephrology : JASN.

The hypocalcemic effect of inorganic sulfate infusions.

D. Cole, J. Crocker, M. McPhee, 1989, Nephron.

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

L. Muscarella, G. Hendy, A. Scillitani, 2010, The Journal of clinical endocrinology and metabolism.

Differential structuring of human populations for homologous X and Y microsatellite loci.

K. Kidd, S. Q. Mehdi, A. Torroni, 1997, American journal of human genetics.

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.

D. Cole, L. Gagnier, M. Coulter-Mackie, 1997, Journal of medical genetics.

The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites.

G. Hendy, D. Cole, L. Canaff, 2013, Best practice & research. Clinical endocrinology & metabolism.

Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

G. Hendy, D. Cole, L. Canaff, 2003, The Journal of clinical endocrinology and metabolism.

The Causal Effect of Vitamin D Binding Protein (DBP) Levels on Calcemic and Cardiometabolic Diseases: A Mendelian Randomization Study

C. Greenwood, N. Timpson, J. Richards, 2014, PLoS medicine.

Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers

William M. Lee, E. Parra, D. Cole, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Julia A. Knight, J. Knight, M. Cotterchio, 2011, Cancer Epidemiology, Biomarkers & Prevention.

Functional T436K SNP in DBP is a predictor of serum 25(OH)D: A replicate study in a young healthy adult population

D. Cole, H. Hanwell, R. Vieth, 2008 .

Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children.

D. Cole, Jane H. Zhang, M. Savoye, 2012, The American journal of clinical nutrition.

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

M. Copetti, V. Pazienza, M. Carella, 2013, PloS one.

Familial Isolated Hypoparathyroidism

G. Hendy, D. Cole, 2015 .

Calcium sensing receptor gene: analysis of polymorphism frequency.

G. Hendy, D. Cole, L. Rubin, 1997, Scandinavian journal of clinical and laboratory investigation. Supplementum.

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

M. Bisceglia, L. Muscarella, A. Scillitani, 2006, The Journal of clinical endocrinology and metabolism.

Frequency of CYP2C9 polymorphisms affecting warfarin metabolism in a large anticoagulant clinic cohort.

D. Cole, M. Moridani, R. Selby, 2006, Clinical biochemistry.

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort

M. Carella, E. Maiello, M. Bisceglia, 2012, Cellular Oncology.

Inorganic sulfate metabolism in the very low birthweight infant.

M. Raad, D. Cole, J. R. Evans, 1990, Biology of the neonate.

A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women

G. Hendy, A. Scillitani, D. Cole, 2006, Human Genetics.

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22

D. Cole, M. Coulter-Mackie, J. Beis, 1995, Journal of medical genetics.

Cardiac anomalies complicating congenital contractural arachnodactyly.

M. Patterson, D. Cole, A. Macnab, 1991, Archives of disease in childhood.

Transforming growth factor beta-1 (TGFB1) and peak bone mass: association between intragenic polymorphisms and quantitative ultrasound of the heel

A. Logan, D. Cole, L. Rubin, 2005, BMC musculoskeletal disorders.

Vitamin B12 and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population

M. Thompson, D. Cole, J. Ray, 2007, Epidemiology.

The (mis) use of bone resorption markers in the context of bisphosphonate exposure, dental surgery and osteonecrosis of the jaw.

D. Cole, A. Don-Wauchope, 2009, Clinical biochemistry.

Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature.

K. Goulden, D. Cole, J. Crocker, 1987, Clinical biochemistry.

Effect of vitamin D-binding protein genotype on the development of asthma in children.

D. Cole, V. Shabanova, A. Bazzy-Asaad, 2014, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

Case-control study of genotypes in multiple chemical sensitivity : CYP 2 D 6 , NAT 1 , NAT 2 , PON 1 , PON 2 and MTHFR

C. Baines, R. Tyndale, D. Cole, 2004 .

Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model

A. Boskey, D. Howell, P. Hauschka, 2003, BMC musculoskeletal disorders.

Parenteral nutrition in a premature infant with phenylketonuria.

D. Cole, D. Landry, 1984, JPEN - Journal of Parenteral and Enteral Nutrition.

Microassay of inorganic sulfate in biological fluids by controlled flow anion chromatography.

D. Cole, C. Scriver, 1981, Journal of chromatography.

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".

C. Laberge, D. Cole, H. Levy, 1980, Proceedings of the National Academy of Sciences of the United States of America.

Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

D. Cole, J. Dooley, S. Salisbury, 1990, Journal of craniofacial genetics and developmental biology.

Increased red cell folate concentrations in women of reproductive age after Canadian folic acid food fortification.

D. Cole, J. Ray, M. Vermeulen, 2002, Epidemiology.

An Ontario-wide study of vitamin B12, serum folate, and red cell folate levels in relation to plasma homocysteine: is a preventable public health issue on the rise?.

D. Cole, J. Ray, S. Boss, 2000, Clinical biochemistry.

High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density.

A. Bureau, D. Cole, F. Rousseau, 2010, Bone.

Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism.

D. Cole, R. Bowen, B. Wong, 2004, Clinical biochemistry.

G-protein-coupled receptors and asthma endophenotypes: the cysteinyl leukotriene system in perspective.

Y. Bossé, T. Hudson, K. Siminovitch, 2006, Molecular diagnosis & therapy.

Neonatal severe hyperparathyroidism: further clinical and molecular delineation

D. Cole, T. Ben-Omran, A. Soliman, 2011, European Journal of Pediatrics.

Evaluation of the warfarin-resistance polymorphism, VKORC1 Asp36Tyr, and its effect on dosage algorithms in a genetically heterogeneous anticoagulant clinic.

D. Cole, A. Shuen, R. Selby, 2012, Clinical biochemistry.

Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factors for venous thromboembolism in women

D. Cole, L. Langman, J. Ray, 2001, Current controlled trials in cardiovascular medicine.

Persistence of vitamin B12 insufficiency among elderly women after folic acid food fortification.

D. Cole, L. Langman, J. Ray, 2003, Clinical biochemistry.

Osteogenesis imperfecta: an update.

D. Cole, M. Cohen, 1991, The Journal of pediatrics.

Association between folic acid food fortification and congenital orofacial clefts.

D. Cole, J. Ray, M. Vermeulen, 2003, The Journal of pediatrics.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

A. Federico, D. Cole, B. Robinson, 1995, American journal of human genetics.

Mendelian hypophosphataemias as probes of phosphate and sulphate transport by mammalian kidney

D. Cole, C. Scriver, H. Tenenhouse, 1981 .

Age-dependent serum sulfate levels in children and adolescents.

D. Cole, C. Scriver, 1980, Clinica chimica acta; international journal of clinical chemistry.

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

A. Munnich, M. Thompson, Roberto Mendoza, 2010, American journal of medical genetics. Part A.

Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia.

D. Cole, S. Coburn, L. Ryan, 1986, The New England journal of medicine.

Sulfate transport in brush border membrane vesicles prepared from human placental syncytiotrophoblast.

D. Cole, 1984, Biochemical and Biophysical Research Communications - BBRC.

Replication of associations between LRP5 and ESRRA variants and bone density in premenopausal women

D. Cole, F. Rousseau, S. Giroux, 2008, Osteoporosis International.

Thyroid hormone modulation of glucocorticoid-induced polycystic kidney disease.

D. Cole, P. Acott, J. Crocker, 1996, Journal of the American Society of Nephrology : JASN.

Sulfate Transfer in the Dually Perfused Human Placenta

D. Cole, K. Baskin, L. Stirk, 1994 .

Sulfate transport in human placenta: further evidence for a sodium-independent mechanism.

D. Cole, N. Rastogi, 1991, Biochimica et biophysica acta.

Increased serum sulfate in pregnancy: relationship to gestational age.

D. Cole, L. Stirk, L. S. Baldwin, 1985, Clinical chemistry.

IncreasedSerum Sulfate in Pregnancy:Relationshipto GestationalAge

D. Cole, L. S. Baldwin, LInda J. Stlrk, 1985 .

Hyperhomocysteinemia in heart transplantation: from bench to bedside.

V. Rao, S. Miriuka, H. Ross, 2003, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Inorganic sulfate in cerebrospinal fluid from infants and children.

D. Cole, C. Scriver, J. Shafai, 1982, Clinica chimica acta; international journal of clinical chemistry.

Sulfate transport by mouse renal cortical slices does not represent uptake by brush-border membrane.

D. Cole, C. Scriver, M. Koltay, 1984, Biochimica et biophysica acta.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

P. Robinson, D. Horn, S. Mundlos, 2016, Human mutation.

Cardiovascular disease-risk factors in middle-aged osteopaenic women treated with calcium alone or combined to three nutrients essential to artery and bone collagen.

D. Cole, S. Coburn, C. Tranchant, 2008, Journal of human nutrition and dietetics : the official journal of the British Dietetic Association.

Clearance of inorganic sulfate by peritoneal dialysis in children with chronic renal failure.

R. Hanning, J. Balfe, D. Cole, 1986, Nephron.

Absence Of Effect Of Folic Acid Flour Fortification On Anticonvulsant Drug Levels: 84

M. Mamdani, D. Cole, L. Langman, 2005 .

Maternal ethnicity and risk of neural tube defects: a population-based study

D. Cole, J. Ray, M. Vermeulen, 2004, Canadian Medical Association Journal.

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity

M. Thompson, D. Cole, 2016, Human mutation.

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.

M. Thompson, D. Cole, 2015, Sub-cellular biochemistry.

Relationship between the sulfur content of total parenteral nutrition and sulfoester excretion in low-birthweight infants.

D. Cole, S. Zlotkin, M. McPhee, 1988, The American journal of clinical nutrition.

A microassay for analysis of serum sulfate.

D. Cole, C. Scriver, F. Mohyuddin, 1979, Analytical Biochemistry.

Quantitation of free sulfate and total sulfoesters in human breast milk by ion chromatography.

S. Atkinson, D. Cole, M. McPhee, 1990, Journal of chromatography.

Use of a new sample-collection device (Macroduct) in anion analysis of human sweat.

D. Cole, D E Cole, M J Boucher, 1986, Clinical chemistry.

mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool.

D. Labuda, A. Torroni, R. Scozzari, 1997, American journal of human genetics.

Calcium sensing receptor gene: analysis of polymorphism frequency.

G. Hendy, D. Cole, C. Liew, 1997, Scandinavian journal of clinical and laboratory investigation. Supplementum.

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

G. Hendy, A. Scillitani, D. Cole, 2017, BMC Medical Genetics.

Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism.

D. Cusi, G. Hendy, A. Scillitani, 2011, European Journal of Endocrinology.

Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers

William M. Lee, E. Parra, D. Cole, 2013, Journal of Bone and Mineral Research.

Common genetic variants of the vitamin D binding protein (DBP) predict differences in response of serum 25-hydroxyvitamin D [25(OH)D] to vitamin D supplementation.

D. Cole, R. Vieth, B. Wong, 2009, Clinical biochemistry.

J. Knight, M. Cotterchio, D. Cole, 2011, Cancer Epidemiology, Biomarkers & Prevention.

Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model

A. Boskey, D. Howell, P. Hauschka, 2003, BMC musculoskeletal disorders.

Parathyroid carcinoma.

F. Cetani, V. Nicastro, A. Scillitani, 2018, Best practice & research. Clinical endocrinology & metabolism.

Genetic defects associated with familial and sporadic hyperparathyroidism.

G. Hendy, D. Cole, 2013, Frontiers of hormone research.

Variance Formulae for Correlation Measures of Linkage Disequilibrium

D. Cole, D. C. Hamilton, Mary L Roop, 2017, Human Heredity.

Vitamin D in adult health and disease: a review and guideline statement from Osteoporosis Canada

W. Leslie, S. Atkinson, D. Cole, 2010, Canadian Medical Association Journal.

Effects of folic acid fortification and multivitamin therapy on homocysteine and vitamin B(12) status in cardiac transplant recipients.

S. Miriuka, H. Ross, D. Cole, 2004, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Type 2 diabetes mellitus and inflammation: Prospects for biomarkers of risk and nutritional intervention

A. El-Sohemy, A. Badawi, A. Klip, 2010, Diabetes, metabolic syndrome and obesity : targets and therapy.

Elevation of plasma homocysteine in natural menopause can not be explained by a lack of vitamin coenzyme availability: relevance to the risk of cardiovascular disease.

D. Cole, S. Coburn, J. Dosy, 2005, The journal of nutrition, health & aging.