Michael Econs

  • 15529 Citations
  • 55 h-Index
1976 …2019
If you made any changes in Pure, your changes will be visible here soon.

Publications 1990 2019

  • 15529 Citations
  • 55 h-Index
  • 178 Article
  • 7 Chapter
  • 2 Review article
  • 1 Foreword/postscript
2019
3 Citations (Scopus)

Disentangling the genetics of lean mass

Karasik, D., Zillikens, M. C., Hsu, Y. H., Aghdassi, A., Akesson, K., Amin, N., Barroso, I., Bennett, D. A., Bertram, L., Bochud, M., Borecki, I. B., Broer, L., Buchman, A. S., Byberg, L., Campbell, H., Campos-Obando, N., Cauley, J. A., Cawthon, P. M., Chambers, J. C., Chen, Z. & 137 others, Cho, N. H., Choi, H. J., Chou, W. C., Cummings, S. R., De Groot, L. C. P. G. M., De Jager, P. L., Demuth, I., Diatchenko, L., Econs, M., Eiriksdottir, G., Enneman, A. W., Eriksson, J., Eriksson, J. G., Estrada, K., Evans, D. S., Feitosa, M. F., Fu, M., Gieger, C., Grallert, H., Gudnason, V., Lenore, L. J., Hayward, C., Hofman, A., Homuth, G., Huffman, K. M., Husted, L. B., Illig, T., Ingelsson, E., Ittermann, T., Jansson, J. O., Johnson, T., Biffar, R., Jordan, J. M., Jula, A., Karlsson, M., Khaw, K. T., Kilpeläinen, T. O., Klopp, N., Kloth, J. S. L., Koller, D. L., Kooner, J. S., Kraus, W. E., Kritchevsky, S., Kutalik, Z., Kuulasmaa, T., Kuusisto, J., Laakso, M., Lahti, J., Lang, T., Langdahl, B. L., Lerch, M. M., Lewis, J. R., Lill, C., Lind, L., Lindgren, C., Liu, Y., Livshits, G., Ljunggren, Ö., Loos, R. J. F., Lorentzon, M., Luan, JA., Luben, R. N., Malkin, I., McGuigan, F. E., Medina-Gomez, C., Meitinger, T., Melhus, H., Mellström, D., Michaëlsson, K., Mitchell, B. D., Morris, A. P., Mosekilde, L., Nethander, M., Newman, A. B., Oconnell, J. R., Oostra, B. A., Orwoll, E. S., Palotie, A., Peacock, M., Perola, M., Peters, A., Prince, R. L., Psaty, B. M., Räikkönen, K., Ralston, S. H., Ripatti, S., Rivadeneira, F., Robbins, J. A., Rotter, J. I., Rudan, I., Salomaa, V., Satterfield, S., Schipf, S., Shin, C. S., Smith, A. V., Smith, S. B., Soranzo, N., Spector, T. D., StanÄ Áková, A., Stefansson, K., Steinhagen-Thiessen, E., Stolk, L., Streeten, E. A., Styrkarsdottir, U., Swart, K. M. A., Thompson, P., Thomson, C. A., Thorleifsson, G., Thorsteinsdottir, U., Tikkanen, E., Tranah, G. J., Uitterlinden, A. G., Van Duijn, C. M., Van Schoor, N. M., Vandenput, L., Vollenweider, P., Völzke, H., Wactawski-Wende, J., Walker, M., J Wareham, N., Waterworth, D., Weedon, M. N., Wichmann, H. E., Widen, E., Williams, F. M. K., Wilson, J. F., Wright, N. C., Yerges-Armstrong, L. M., Yu, L., Zhang, W., Zhao, J. H., Zhou, Y., Nielson, C. M., Harris, T. B., Demissie, S., Kiel, D. P. & Ohlsson, C., Feb 1 2019, In : American Journal of Clinical Nutrition. 109, 2, p. 276-278 3 p.

Research output: Contribution to journalArticle

Fats
Single Nucleotide Polymorphism
Genome-Wide Association Study
Alleles
Metabolome
1 Citation (Scopus)

Interferon Gamma-1b Does Not Increase Markers of Bone Resorption in Autosomal Dominant Osteopetrosis

Imel, E. A., Liu, Z., Acton, D., Coffman, M., Gebregziabher, N., Tong, Y. & Econs, M. J., Jan 1 2019, In : Journal of Bone and Mineral Research.

Research output: Contribution to journalArticle

Osteopetrosis
Bone Resorption
Osteomyelitis
Creatinine
Bone and Bones
1 Citation (Scopus)

Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry

Hsu, Y. H., Estrada, K., Evangelou, E., Ackert-Bicknell, C., Akesson, K., Beck, T., Brown, S. J., Capellini, T., Carbone, L., Cauley, J., Cheung, C. L., Cummings, S. R., Czerwinski, S., Demissie, S., Econs, M., Evans, D., Farber, C., Gautvik, K., Harris, T., Kammerer, C. & 32 others, Kemp, J., Koller, D. L., Kung, A., Lawlor, D., Lee, M., Lorentzon, M., McGuigan, F., Medina-Gomez, C., Mitchell, B., Newman, A., Nielson, C., Ohlsson, C., Peacock, M., Reppe, S., Richards, J. B., Robbins, J., Sigurdsson, G., Spector, T. D., Stefansson, K., Streeten, E., Styrkarsdottir, U., Tobias, J., Trajanoska, K., Uitterlinden, A., Vandenput, L., Wilson, S. G., Yerges-Armstrong, L., Young, M., Zillikens, C., Rivadeneira, F., Kiel, D. P. & Karasik, D., Jan 1 2019, In : Journal of Bone and Mineral Research. e3698.

Research output: Contribution to journalArticle

Pelvic Bones
Genetic Association Studies
Meta-Analysis
Hip
Femur Neck
Iron
Hypophosphatemia
Phosphorus
Mutation
Calcitriol
2018
3 Citations (Scopus)

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

Roberts, M. S., Burbelo, P. D., Egli-Spichtig, D., Perwad, F., Romero, C. J., Ichikawa, S., Farrow, E., Econs, M., Guthrie, L. C., Collins, M. T. & Gafni, R. I., Dec 3 2018, In : Journal of Clinical Investigation. 128, 12, p. 5368-5373 6 p.

Research output: Contribution to journalArticle

Calcinosis
Autoantibodies
Fibroblast Growth Factor 1
Fibroblast Growth Factor Receptors
N-Acetylgalactosaminyltransferases

FGF23 and the regulation of phosphorus metabolism

White, K. & Econs, M., Jan 1 2018, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. wiley, p. 187-193 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Metabolism
Phosphorus
Homeostasis
Parathyroid Hormone
Vitamin D
3 Citations (Scopus)

Genetic variants associated with circulating fibroblast growth factor 23

Robinson-Cohen, C., Bartz, T. M., Lai, D., Alp Ikizler, T., Peacock, M., Imel, E., Michos, E. D., Foroud, T., Akesson, K., Taylor, K. D., Malmgren, L., Matsushita, K., Nethander, M., Eriksson, J., Ohlsson, C., Mellström, D., Wolf, M., Ljunggren, O., McGuigan, F., Rotter, J. I. & 7 others, Karlsson, M., Econs, M., Ix, J. H., Lutsey, P. L., Psaty, B. M., De Boer, I. H. & Kestenbaum, B. R., Oct 1 2018, In : Journal of the American Society of Nephrology. 29, 10, p. 2583-2592 10 p.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Vitamin D
Phosphates
Genes
Kidney
60 Citations (Scopus)

Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

Jiang, X., O'Reilly, P. F., Aschard, H., Hsu, Y. H., Richards, J. B., Dupuis, J., Ingelsson, E., Karasik, D., Pilz, S., Berry, DI., Kestenbaum, B., Zheng, J., Luan, J., Sofianopoulou, E., Streeten, E. A., Albanes, D., Lutsey, P. L., Yao, L., Tang, W., Econs, M. & 84 others, Wallaschofski, H., Völzke, H., Zhou, A., Power, C., McCarthy, M. I., Michos, E. D., Boerwinkle, E., Weinstein, S. J., Freedman, N. D., Huang, W. Y., Van Schoor, N. M., Van Der Velde, N., Groot, L. C. P. G. M. D., Enneman, A., Cupples, L. A., Booth, S. L., Vasan, R. S., Liu, C. T., Zhou, Y., Ripatti, S., Ohlsson, C., Vandenput, L., Lorentzon, M., Eriksson, J. G., Shea, M. K., Houston, D. K., Kritchevsky, S. B., Liu, Y., Lohman, K. K., Ferrucci, L., Peacock, M., Gieger, C., Beekman, M., Slagboom, E., Deelen, J., Heemst, DI. V., Kleber, M. E., März, W., De Boer, I. H., Wood, A. C., Rotter, J. I., Rich, S. S., Robinson-Cohen, C., Den Heijer, M., Jarvelin, M. R., Cavadino, A., Joshi, P. K., Wilson, J. F., Hayward, C., Lind, L., Michaëlsson, K., Trompet, S., Zillikens, M. C., Uitterlinden, A. G., Rivadeneira, F., Broer, L., Zgaga, L., Campbell, H., Theodoratou, E., Farrington, S. M., Timofeeva, M., Dunlop, M. G., Valdes, A. M., Tikkanen, E., Lehtimäki, T., Lyytikäinen, L. P., Kähönen, M., Raitakari, O. T., Mikkilä, V., Ikram, M. A., Sattar, N., Jukema, J. W., Wareham, N. J., Langenberg, C., Forouhi, N. G., Gundersen, T. E., Khaw, K. T., Butterworth, A. S., Danesh, J., Spector, T., Wang, T. J., Hyppönen, E., Kraft, P. & Kiel, D. P., Dec 1 2018, In : Nature Communications. 9, 1, 260.

Research output: Contribution to journalArticle

genome
Genome-Wide Association Study
loci
Genes
genes

President’s preface

Econs, M., Jan 1 2018, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. wiley, p. xxvi

Research output: Chapter in Book/Report/Conference proceedingForeword/postscript

8 Citations (Scopus)

Severe FGF23-based hypophosphataemic osteomalacia due to ferric carboxymaltose administration

Klein, K., Asaad, S., Econs, M. & Rubin, J. E., Jan 3 2018, In : BMJ Case Reports. 2018

Research output: Contribution to journalArticle

Osteomalacia
Iron
Phosphates
Iron-Deficiency Anemias
Crohn Disease
2017
6 Citations (Scopus)

A mutation in the Dmp1 gene alters phosphate responsiveness in mice

Ichikawa, S., Gerard-O'Riley, R. L., Acton, D., McQueen, A. K., Strobel, I. E., Witcher, P. C., Feng, J. Q. & Econs, M., Mar 1 2017, In : Endocrinology. 158, 3, p. 470-476 7 p.

Research output: Contribution to journalArticle

Hypophosphatemic Rickets
Knockout Mice
Phosphorus
Phosphates
Mutation
13 Citations (Scopus)

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group

Wu, C. C., Econs, M., DiMeglio, L., Insogna, K. L., Levine, M. A., Orchard, P. J., Miller, W. P., Petryk, A., Rush, E. T., Shoback, D. M., Ward, L. M. & Polgreen, L. E., Sep 1 2017, In : The Journal of clinical endocrinology and metabolism. 102, 9, p. 3111-3123 13 p.

Research output: Contribution to journalReview article

Osteopetrosis
Guidelines
Cell Transplantation
Minerals
Bone
24 Citations (Scopus)

Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

Price Foundation Collaborative Group, Children’s Hospital of Philadelphia/Price Foundation, GCAN, WTCCC3, GIANT & EGG, Feb 1 2017, In : Molecular Psychiatry. 22, 2, p. 192-201 10 p.

Research output: Contribution to journalArticle

Genetic Loci
Anorexia Nervosa
Body Mass Index
Genome-Wide Association Study
Meta-Analysis
18 Citations (Scopus)

Genetic variants associated with circulating parathyroid hormone

Robinson-Cohen, C., Lutsey, P. L., Kleber, M. E., Nielson, C. M., Mitchell, B. D., Bis, J. C., Eny, K. M., Portas, L., Eriksson, J., Lorentzon, M., Koller, D. L., Milaneschi, Y., Teumer, A., Pilz, S., Nethander, M., Selvin, E., Tang, W., Weng, L. C., Wong, H. S., Lai, D. & 29 others, Peacock, M., Hannemann, A., Völker, U., Homuth, G., Nauk, M., Murgia, F., Pattee, J. W., Orwoll, E., Zmuda, J. M., Riancho, J. A., Wolf, M., Williams, F., Penninx, B., Econs, M., Ryan, K. A., Ohlsson, C., Paterson, A. D., Psaty, B. M., Siscovick, D. S., Rotter, J. I., Pirastu, M., Streeten, E., März, W., Fox, C., Coresh, J., Wallaschofski, H., Pankow, J. S., De Boer, I. H. & Kestenbaum, B., May 1 2017, In : Journal of the American Society of Nephrology. 28, 5, p. 1553-1565 13 p.

Research output: Contribution to journalArticle

Parathyroid Hormone
Single Nucleotide Polymorphism
Serum
Secondary Hyperparathyroidism
Dihydroxycholecalciferols
28 Citations (Scopus)

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

Zillikens, M. C., Demissie, S., Hsu, Y. H., Yerges-Armstrong, L. M., Chou, W. C., Stolk, L., Livshits, G., Broer, L., Johnson, T., Koller, D. L., Kutalik, Z., Luan, JA., Malkin, I., Ried, J. S., Smith, A. V., Thorleifsson, G., Vandenput, L., Hua Zhao, J., Zhang, W., Aghdassi, A. & 173 others, Åkesson, K., Amin, N., Baier, L. J., Barroso, I., Bennett, D. A., Bertram, L., Biffar, R., Bochud, M., Boehnke, M., Borecki, I. B., Buchman, A. S., Byberg, L., Campbell, H., Campos Obanda, N., Cauley, J. A., Cawthon, P. M., Cederberg, H., Chen, Z., Cho, N. H., Jin Choi, H., Claussnitzer, M., Collins, F., Cummings, S. R., De Jager, P. L., Demuth, I., Dhonukshe-Rutten, R. A. M., DIatchenko, L., Eiriksdottir, G., Enneman, A. W., Erdos, M., Eriksson, J. G., Eriksson, J., Estrada, K., Evans, D. S., Feitosa, M. F., Fu, M., Garcia, M., Gieger, C., Girke, T., Glazer, N. L., Grallert, H., Grewal, J., Han, B. G., Hanson, R. L., Hayward, C., Hofman, A., Hoffman, E. P., Homuth, G., Hsueh, W. C., Hubal, M. J., Hubbard, A., Huffman, K. M., Husted, L. B., Illig, T., Ingelsson, E., Ittermann, T., Jansson, J. O., Jordan, J. M., Jula, A., Karlsson, M., Khaw, K. T., Kilpelaïnen, T. O., Klopp, N., Kloth, J. S. L., Koistinen, H. A., Kraus, W. E., Kritchevsky, S., Kuulasmaa, T., Kuusisto, J., Laakso, M., Lahti, J., Lang, T., Langdahl, B. L., Launer, L. J., Lee, J. Y., Lerch, M. M., Lewis, J. R., Lind, L., Lindgren, C., Liu, Y., Liu, T., Liu, Y., Ljunggren, Ö., Lorentzon, M., Luben, R. N., Maixner, W., McGuigan, F. E., Medina-Gomez, C., Meitinger, T., Melhus, H., Mellström, D., Melov, S., Michaëlsson, K., Mitchell, B. D., Morris, A. P., Mosekilde, L., Newman, A., Nielson, C. M., O'Connell, J. R., Oostra, B. A., Orwoll, E. S., Palotie, A., Parker, S., Peacock, M., Perola, M., Peters, A., Polasek, O., Prince, R. L., Raïkkönen, K., Ralston, S. H., Ripatti, S., Robbins, J. A., Rotter, J. I., Rudan, I., Salomaa, V., Satterfield, S., Schadt, E. E., Schipf, S., Scott, L., Sehmi, J., Shen, J., Soo Shin, C., Sigurdsson, G., Smith, S., Soranzo, N., Stančáková, A., Steinhagen-Thiessen, E., Streeten, E. A., Styrkarsdottir, U., Swart, K. M. A., Tan, S. T., Tarnopolsky, M. A., Thompson, P., Thomson, C. A., Thorsteinsdottir, U., Tikkanen, E., Tranah, G. J., Tuomilehto, J., Van Schoor, N. M., Verma, A., Vollenweider, P., Völzke, H., Wactawski-Wende, J., Walker, M., Weedon, M. N., Welch, R., Wichman, H. E., Widen, E., Williams, F. M. K., Wilson, J. F., Wright, N. C., Xie, W., Yu, L., Zhou, Y., Chambers, J. C., Döring, A., Van Duijn, C. M., Econs, M., Gudnason, V., Kooner, J. S., Psaty, B. M., Spector, T. D., Stefansson, K., Rivadeneira, F., Uitterlinden, A. G., Wareham, N. J., Ossowski, V., Waterworth, D., Loos, R. J. F., Karasik, D., Harris, T. B., Ohlsson, C. & Kiel, D. P., Dec 1 2017, In : Nature Communications. 8, 1, 80.

Research output: Contribution to journalArticle

genome
Genome-Wide Association Study
loci
Polymorphism
Single Nucleotide Polymorphism
6 Citations (Scopus)

Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease

Alam, I., McQueen, A. K., Acton, D., Reilly, A. M., Gerard-O'Riley, R. L., Oakes, D. K., Kasipathi, C., Huffer, A., Wright, W. B. & Econs, M., Jan 1 2017, In : Bone. 94, p. 34-41 8 p.

Research output: Contribution to journalArticle

Osteopetrosis
Penetrance
Missense Mutation
Genetic Background
129 Strain Mouse
2016
4 Citations (Scopus)

Bone Mass and Strength are Significantly Improved in Mice Overexpressing Human WNT16 in Osteocytes

Alam, I., Reilly, A. M., Alkhouli, M., Gerard-O’Riley, R. L., Kasipathi, C., Oakes, D. K., Wright, W. B., Acton, D., McQueen, A. K., Patel, B., Lim, K. E., Robling, A. & Econs, M., Dec 24 2016, (Accepted/In press) In : Calcified Tissue International. p. 1-13 13 p.

Research output: Contribution to journalArticle

Osteocytes
Transgenic Mice
Bone and Bones
Gene Expression
Osteocalcin
5 Citations (Scopus)

Genetic diseases resulting from disordered FGF23/klotho biology

Econs, M., May 26 2016, (Accepted/In press) In : Bone.

Research output: Contribution to journalArticle

Hyperphosphatemia
Hypophosphatemia
Calcinosis
Inborn Genetic Diseases
1 Citation (Scopus)

Genome-wide association study of serum iron phenotypes in premenopausal women of European descent

Koller, D. L., Imel, E., Lai, D., Padgett, L. R., Acton, D., Gray, A., Peacock, M., Econs, M. & Foroud, T., Mar 1 2016, In : Blood Cells, Molecules and Diseases. 57, p. 50-53 4 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Iron
Phenotype
Serum
Phosphate Transport Proteins
14 Citations (Scopus)

Osteoblast-specific overexpression of human WNT16 increases both cortical and trabecular bone mass and structure in mice

Alam, I., Alkhouli, M., Gerard-O'Riley, R. L., Wright, W. B., Acton, D., Gray, A. K., Patel, B., Reilly, A. M., Lim, K. E., Robling, A. & Econs, M., Feb 1 2016, In : Endocrinology. 157, 2, p. 722-736 15 p.

Research output: Contribution to journalArticle

Osteoblasts
Transgenic Mice
Bone and Bones
Bone Density
Osteoprotegerin
16 Citations (Scopus)

Osteopetroses, emphasizing potential approaches to treatment

Teti, A. & Econs, M., Jun 24 2016, (Accepted/In press) In : Bone.

Research output: Contribution to journalArticle

Osteopetrosis
Osteoclasts
Bone and Bones
Bone Resorption
Hematopoietic Stem Cells
23 Citations (Scopus)

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Ramnitz, M. S., Gourh, P., Goldbach-Mansky, R., Wodajo, F., Ichikawa, S., Econs, M., White, K., Molinolo, A., Chen, M. Y., Heller, T., Del Rivero, J., Seo-Mayer, P., Arabshahi, B., Jackson, M. B., Hatab, S., McCarthy, E., Guthrie, L. C., Brillante, B. A., Gafni, R. I. & Collins, M. T., Oct 1 2016, In : Journal of Bone and Mineral Research. 31, 10, p. 1845-1854 10 p.

Research output: Contribution to journalArticle

Calcinosis
Inflammation
Camurati-Engelmann Syndrome
N-Acetylgalactosaminyltransferases
Hyperphosphatemia
13 Citations (Scopus)

Serum fibroblast growth factor 23, serum iron and bone mineral density in premenopausal women

Imel, E., Liu, Z., McQueen, A. K., Acton, D., Acton, A., Padgett, L. R., Peacock, M. & Econs, M., May 1 2016, In : Bone. 86, p. 98-105 8 p.

Research output: Contribution to journalArticle

Bone Density
Iron
Serum
Phosphorus
fibroblast growth factor 23
2015
6 Citations (Scopus)
Calcitriol
Phosphates
5 Citations (Scopus)

Fine mapping of bone structure and strength QTLs in heterogeneous stock rat

Alam, I., Koller, D. L., Cañete, T., Blázquez, G., Mont-Cardona, C., López-Aumatell, R., Martínez-Membrives, E., Díaz-Morán, S., Tobeña, A., Fernández-Teruel, A., Stridh, P., Diez, M., Olsson, T., Johannesson, M., Baud, A., Econs, M. & Foroud, T., Dec 1 2015, In : Bone. 81, p. 417-426 10 p., 10840.

Research output: Contribution to journalArticle

Quantitative Trait Loci
Femur Neck
Phenotype
Bone and Bones
Haplotypes
1 Citation (Scopus)

Genetic Disorders of Phosphate Homeostasis

White, K., Bringhurst, F. R. & Econs, M., Jan 1 2015, Endocrinology: Adult and Pediatric. Elsevier Inc., Vol. 1-2. p. 1090-1104.e6

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Genetic Diseases
Homeostasis
Phosphates
11 Citations (Scopus)

Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci

GEFOS Consortium, Dec 1 2015, In : PLoS One. 10, 12, e0144531.

Research output: Contribution to journalArticle

bone density
Medical problems
Bone Density
cardiovascular diseases
Minerals
1463 Citations (Scopus)

Genetic studies of body mass index yield new insights for obesity biology

Collaborators, LifeLines Cohort Study & ADIPOGen Consortium; AGEN-BMI Working Group; CARDIOGRAMplusC4D Consortium; CKDGen Consortium; GLGC; ICBP; MAGIC Investigators; MuTHER Consortium; MIGen Consortium; PAGE Consortium; ReproGen Consortium; GENIE Consortium; International Endogene Consortium, Feb 12 2015, In : Nature. 518, 7538, p. 197-206 10 p.

Research output: Contribution to journalArticle

Body Mass Index
Obesity
Adipogenesis
Genome-Wide Association Study
Adiposity
14 Citations (Scopus)

Interferon Gamma, but not Calcitriol Improves the Osteopetrotic Phenotypes in ADO2 Mice

Alam, I., Gray, A. K., Acton, D., Gerard-O'Riley, R. L., Reilly, A. M. & Econs, M., Nov 1 2015, In : Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 30, 11, p. 2005-2013 9 p.

Research output: Contribution to journalArticle

Calcitriol
Interferon-gamma
Phenotype
Mutation
Chloride Channels
516 Citations (Scopus)

New genetic loci link adipose and insulin biology to body fat distribution

Collaborators & ADIPOGen Consortium; CARDIOGRAMplusC4D Consortium; CKDGen Consortium; GEFOS Consortium; GENIE Consortium; GLGC; ICBP; International Endogene Consortium; LifeLines Cohort Study; MAGIC Investigators; MuTHER Consortium; PAGE Consortium; ReproGen Consortium, Feb 12 2015, In : Nature. 518, 7538, p. 187-196 10 p.

Research output: Contribution to journalArticle

Body Fat Distribution
Genetic Loci
Waist-Hip Ratio
Waist Circumference
Hip
1 Citation (Scopus)

The Case | Ectopic calcifications in a child

Keskar, V. S., Imel, E., Kulkarni, M., Mane, S., Jamale, T. E., Econs, M. & Hase, N. K., May 11 2015, In : Kidney International. 87, 5, p. 1079-1081 3 p.

Research output: Contribution to journalArticle

2014
18 Citations (Scopus)

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models

Alam, I., Gray, A. K., Chu, K., Ichikawa, S., Mohammad, K., Capannolo, M., Capulli, M., Maurizi, A., Muraca, M., Teti, A., Econs, M. & Del Fattore, A., 2014, In : Bone. 59, p. 66-75 10 p.

Research output: Contribution to journalArticle

Osteopetrosis
Osteoclasts
Missense Mutation
Genes
Modifier Genes
6 Citations (Scopus)

Genetic rescue of glycosylation-deficient FGF23 in the GALNT3 knockout mouse

Ichikawa, S., Gray, A. K., Padgett, L. R., Allen, M., Clinkenbeard, E. L., Sarpa, N. M., White, K. & Econs, M., Oct 1 2014, In : Endocrinology. 155, 10, p. 3891-3898 8 p.

Research output: Contribution to journalArticle

Glycosylation
Knockout Mice
Mutation
Phosphorus
Transgenic Mice
41 Citations (Scopus)

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

The ReproGen Consortium, The Early Growth Genetics (EGG) Consortium, The Early Growth Genetics (EGG) Consortium, The ReproGen Consortium & The GIANT Consortium, Jan 1 2014, In : Human molecular genetics. 23, 16, p. 4452-4464 13 p.

Research output: Contribution to journalArticle

Open Access
Sexual Maturation
Menarche
Genome-Wide Association Study
Puberty
Sexual Development
4 Citations (Scopus)

High-resolution genome screen for bone mineral density in heterogeneous stock rat

Alam, I., Koller, D. L., Cañete, T., Blázquez, G., López-Aumatell, R., Martínez-Membrives, E., Díaz-Morán, S., Tobeña, A., Fernández-Teruel, A., Stridh, P., Diez, M., Olsson, T., Johannesson, M., Baud, A., Econs, M. & Foroud, T., 2014, In : Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 29, 7, p. 1619-1626 8 p.

Research output: Contribution to journalArticle

Bone Density
Genome
Single Nucleotide Polymorphism
Phenotype
Haplotypes
23 Citations (Scopus)

Hypophosphatemic rickets: Revealing novel control points for phosphate homeostasis

White, K., Hum, J. M. & Econs, M., 2014, In : Current Osteoporosis Reports. 12, 3, p. 252-262 11 p.

Research output: Contribution to journalArticle

Hypophosphatemic Rickets
Homeostasis
Phosphates
Hypophosphatemia
Rare Diseases
7 Citations (Scopus)

Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

Ichikawa, S., Tuchman, S., Padgett, L. R., Gray, A. K., Baluarte, H. J. & Econs, M., 2014, In : Bone. 59, p. 53-56 4 p.

Research output: Contribution to journalArticle

Introns
Mutation
Base Pairing
Rickets
Genes
18 Citations (Scopus)

Iron and fibroblast growth factor 23 in X-linked hypophosphatemia

Imel, E., Gray, A. K., Padgett, L. R. & Econs, M., Mar 2014, In : Bone. 60, p. 87-92 6 p.

Research output: Contribution to journalArticle

Familial Hypophosphatemic Rickets
Iron
fibroblast growth factor 23
Hypophosphatemia
Serum
237 Citations (Scopus)

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Perry, J. R. B., Day, F., Elks, C. E., Sulem, P., Thompson, D. J., Ferreira, T., He, C., Chasman, D. I., Esko, T., Thorleifsson, G., Albrecht, E., Ang, W. Q., Corre, T., Cousminer, D. L., Feenstra, B., Franceschini, N., Ganna, A., Johnson, A. D., Kjellqvist, S., Lunetta, K. L. & 178 others, McMahon, G., Nolte, I. M., Paternoster, L., Porcu, E., Smith, A. V., Stolk, L., Teumer, A., Tšernikova, N., Tikkanen, E., Ulivi, S., Wagner, E. K., Amin, N., Bierut, L. J., Byrne, E. M., Hottenga, J. J., Koller, D. L., Mangino, M., Pers, T. H., Yerges-Armstrong, L. M., Zhao, J. H., Andrulis, I. L., Anton-Culver, H., Atsma, F., Bandinelli, S., Beckmann, M. W., Benitez, J., Blomqvist, C., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Buring, J. E., Chang-Claude, J., Chanock, S., Chen, J., Chenevix-Trench, G., Collée, J. M., Couch, F. J., Couper, D., Coviello, A. D., Cox, A., Czene, K., D'adamo, A. P., Smith, G. D., De Vivo, I., Demerath, E. W., Dennis, J., Devilee, P., Dieffenbach, A. K., Dunning, A. M., Eiriksdottir, G., Eriksson, J. G., Fasching, P. A., Ferrucci, L., Flesch-Janys, D., Flyger, H., Foroud, T., Franke, L., Garcia, M. E., García-Closas, M., Geller, F., De Geus, E. E. J., Giles, G. G., Gudbjartsson, D. F., Gudnason, V., Guénel, P., Guo, S., Hall, P., Hamann, U., Haring, R., Hartman, C. A., Heath, A. C., Hofman, A., Hooning, M. J., Hopper, J. L., Hu, F. B., Hunter, D. J., Karasik, D., Kiel, D. P., Knight, J. A., Kosma, V. M., Kutalik, Z., Lai, S., Lambrechts, D., Lindblom, A., Mägi, R., Magnusson, P. K., Mannermaa, A., Martin, N. G., Masson, G., McArdle, P. F., McArdle, W. L., Melbye, M., Michailidou, K., Mihailov, E., Milani, L., Milne, R. L., Nevanlinna, H., Neven, P., Nohr, E. A., Oldehinkel, A. J., Oostra, B. A., Palotie, A., Peacock, M., Pedersen, N. L., Peterlongo, P., Peto, J., Pharoah, P. D. P., Postma, D. S., Pouta, A., Pylkäs, K., Radice, P., Ring, S., Rivadeneira, F., Robino, A., Rose, L. M., Rudolph, A., Salomaa, V., Sanna, S., Schlessinger, D., Schmidt, M. K., Southey, M. C., Sovio, U., Stampfer, M. J., Stöckl, D., Storniolo, A. M., Timpson, N. J., Tyrer, J., Visser, J. A., Vollenweider, P., Völzke, H., Waeber, G., Waldenberger, M., Wallaschofski, H., Wang, Q., Willemsen, G., Winqvist, R., Wolffenbuttel, B. H. R., Wright, M. J., Boomsma, D. I., Econs, M., Khaw, K. T., Loos, R. J. F., McCarthy, M. I., Montgomery, G. W., Rice, J. P., Streeten, E. A., Thorsteinsdottir, U., Van Duijn, C. M., Alizadeh, B. Z., Bergmann, S., Boerwinkle, E., Boyd, H. A., Crisponi, L., Gasparini, P., Gieger, C., Harris, T. B., Ingelsson, E., Järvelin, M. R., Kraft, P., Lawlor, D., Metspalu, A., Pennell, C. E., Ridker, P. M., Snieder, H., Sørensen, T. I. A., Spector, T. D., Strachan, D. P., Uitterlinden, A. G., Wareham, N. J., Widen, E., Zygmunt, M., Murray, A., Easton, D. F., Stefansson, K., Murabito, J. M. & Ong, K. K., Oct 2 2014, In : Nature. 514, 7520, p. 92-97 6 p.

Research output: Contribution to journalArticle

Menarche
Puberty
Aminobutyrates
Cytoplasmic and Nuclear Receptors
Rare Diseases
70 Citations (Scopus)

Phenotypic Dissection of Bone Mineral Density Reveals Skeletal Site Specificity and Facilitates the Identification of Novel Loci in the Genetic Regulation of Bone Mass Attainment

Kemp, J. P., Medina-Gomez, C., Estrada, K., St Pourcain, B., Heppe, D. H. M., Warrington, N. M., Oei, L., Ring, S. M., Kruithof, C. J., Timpson, N. J., Wolber, L. E., Reppe, S., Gautvik, K., Grundberg, E., Ge, B., van der Eerden, B., van de Peppel, J., Hibbs, M. A., Ackert-Bicknell, C. L., Choi, K. & 13 others, Koller, D. L., Econs, M., Williams, F. M. K., Foroud, T., Carola Zillikens, M., Ohlsson, C., Hofman, A., Uitterlinden, A. G., Davey Smith, G., Jaddoe, V. W. V., Tobias, J. H., Rivadeneira, F. & Evans, D. M., 2014, In : PLoS Genetics. 10, 6, e1004423.

Research output: Contribution to journalArticle

Genetic Loci
dissection
bone density
Bone Density
Dissection
5 Citations (Scopus)

SIBLING family genes and bone mineral density: Association and allele-specific expression in humans

Alam, I., Padgett, L. R., Ichikawa, S., Alkhouli, M., Koller, D. L., Lai, D., Peacock, M., Xuei, X., Foroud, T., Edenberg, H. & Econs, M., 2014, In : Bone. 64, p. 166-172 7 p.

Research output: Contribution to journalArticle

Bone Density
Alleles
Single Nucleotide Polymorphism
Femur Neck
Genes
2013
10 Citations (Scopus)

Dosage effect of a phex mutation in a murine model of X-linked hypophosphatemia

Ichikawa, S., Gray, A. K., Bikorimana, E. & Econs, M., Aug 2013, In : Calcified Tissue International. 93, 2, p. 155-162 8 p.

Research output: Contribution to journalArticle

Familial Hypophosphatemic Rickets
Mutation
Phosphorus
Alleles
Genotype
4 Citations (Scopus)

Fibroblast Growth Factor-23 (FGF23)

White, K. & Econs, M., Jul 19 2013, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism: Eighth Edition. Wiley Blackwell, p. 188-194 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Assays
Chromosomes
Familial Hypophosphatemic Rickets
Hypophosphatemic Rickets
Calcinosis
56 Citations (Scopus)

Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women

Koller, D. L., Zheng, H. F., Karasik, D., Yerges-Armstrong, L., Liu, C. T., McGuigan, F., Kemp, J. P., Giroux, S., Lai, D., Edenberg, H., Peacock, M., Czerwinski, S. A., Choh, A. C., McMahon, G., St Pourcain, B., Timpson, N. J., Lawlor, D. A., Evans, D. M., Towne, B., Blangero, J. & 14 others, Carless, M. A., Kammerer, C., Goltzman, D., Kovacs, C. S., Prior, J. C., Spector, T. D., Rousseau, F., Tobias, J. H., Akesson, K., Econs, M., Mitchell, B. D., Richards, J. B., Kiel, D. P. & Foroud, T., Mar 2013, In : Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 28, 3, p. 547-558 12 p.

Research output: Contribution to journalArticle

Bone Density
Single Nucleotide Polymorphism
Meta-Analysis
Genome
Spine
2012
27 Citations (Scopus)
Familial Hypophosphatemic Rickets
Phosphates
Hypophosphatemia
Bone and Bones
Mutation
52 Citations (Scopus)

Approach to the hypophosphatemic patient

Imel, E. & Econs, M., Mar 2012, In : Journal of Clinical Endocrinology and Metabolism. 97, 3, p. 696-706 11 p.

Research output: Contribution to journalArticle

Hypophosphatemia
Phosphates
Metabolism
Kidney
Intestinal Absorption
3 Citations (Scopus)

Familial Hypophosphatemia and Related Disorders

Holm, I. A., Econs, M. & Carpenter, T. O., 2012, Pediatric Bone. Elsevier Inc., p. 699-726 28 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Familial Hypophosphatemia
Hypophosphatemia
Stomatognathic Diseases
Osteomalacia
Endopeptidases
617 Citations (Scopus)

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Estrada, K., Styrkarsdottir, U., Evangelou, E., Hsu, Y. H., Duncan, E. L., Ntzani, E. E., Oei, L., Albagha, O. M. E., Amin, N., Kemp, J. P., Koller, D. L., Li, G., Liu, C. T., Minster, R. L., Moayyeri, A., Vandenput, L., Willner, D., Xiao, S. M., Yerges-Armstrong, L. M., Zheng, H. F. & 161 others, Alonso, N., Eriksson, J., Kammerer, C. M., Kaptoge, S. K., Leo, P. J., Thorleifsson, G., Wilson, S. G., Wilson, J. F., Aalto, V., Alen, M., Aragaki, A. K., Aspelund, T., Center, J. R., Dailiana, Z., Duggan, D. J., Garcia, M., Garcia-Giralt, N., Giroux, S., Hallmans, G., Hocking, L. J., Husted, L. B., Jameson, K. A., Khusainova, R., Kim, G. S., Kooperberg, C., Koromila, T., Kruk, M., Laaksonen, M., Lacroix, A. Z., Lee, S. H., Leung, P. C., Lewis, J. R., Masi, L., Mencej-Bedrac, S., Nguyen, T. V., Nogues, X., Patel, M. S., Prezelj, J., Rose, L. M., Scollen, S., Siggeirsdottir, K., Smith, A. V., Svensson, O., Trompet, S., Trummer, O., Van Schoor, N. M., Woo, J., Zhu, K., Balcells, S., Brandi, M. L., Buckley, B. M., Cheng, S., Christiansen, C., Cooper, C., Dedoussis, G., Ford, I., Frost, M., Goltzman, D., González-Macías, J., Kähönen, M., Karlsson, M., Khusnutdinova, E., Koh, J. M., Kollia, P., Langdahl, B. L., Leslie, W. D., Lips, P., Ljunggren, Ø., Lorenc, R. S., Marc, J., Mellström, D., Obermayer-Pietsch, B., Olmos, J. M., Pettersson-Kymmer, U., Reid, D. M., Riancho, J. A., Ridker, P. M., Rousseau, F., Lagboom, P. E. S., Tang, N. L. S., Urreizti, R., Van Hul, W., Viikari, J., Zarrabeitia, M. T., Aulchenko, Y. S., Castano-Betancourt, M., Grundberg, E., Herrera, L., Ingvarsson, T., Johannsdottir, H., Kwan, T., Li, R., Luben, R., Medina-Gómez, C., Th Palsson, S., Reppe, S., Rotter, J. I., Sigurdsson, G., Van Meurs, J. B. J., Verlaan, D., Williams, F. M. K., Wood, A. R., Zhou, Y., Gautvik, K. M., Pastinen, T., Raychaudhuri, S., Cauley, J. A., Chasman, D. I., Clark, G. R., Cummings, S. R., Danoy, P., Dennison, E. M., Eastell, R., Eisman, J. A., Gudnason, V., Hofman, A., Jackson, R. D., Jones, G., Jukema, J. W., Khaw, K. T., Lehtimäki, T., Liu, Y., Lorentzon, M., Mccloskey, E., Mitchell, B. D., Nandakumar, K., Nicholson, G. C., Oostra, B. A., Peacock, M., Pols, H. A. P., Prince, R. L., Raitakari, O., Reid, I. R., Robbins, J., Sambrook, P. N., Sham, P. C., Shuldiner, A. R., Tylavsky, F. A., Van Duijn, C. M., Wareham, N. J., Cupples, L. A., Econs, M., Evans, D. M., Harris, T. B., Kung, A. W. C., Psaty, B. M., Reeve, J., Spector, T. D., Streeten, E. A., Zillikens, M. C., Thorsteinsdottir, U., Ohlsson, C., Karasik, D., Richards, J. B., Brown, M. A., Stefansson, K., Uitterlinden, A. G., Ralston, S. H., Ioannidis, J. P. A., Kiel, D. P. & Rivadeneira, F., May 2012, In : Nature Genetics. 44, 5, p. 491-501 11 p.

Research output: Contribution to journalArticle

Bone Density
Meta-Analysis
Genome
Wnt Signaling Pathway
Genome-Wide Association Study
7 Citations (Scopus)

Regsnps: A strategy for prioritizing regulatory single nucleotide substitutions

Teng, M., Ichikawa, S., Padgett, L. R., Wang, Y., Mort, M., Cooper, D. N., Koller, D. L., Foroud, T., Edenberg, H., Econs, M. & Liu, Y., Jul 2012, In : Bioinformatics. 28, 14, p. 1879-1886 8 p., bts275.

Research output: Contribution to journalArticle

Nucleotides
Single Nucleotide Polymorphism
Substitution
Informatics
Substitution reactions
2011

Common genetic determinants of vitamin D insufficiency: A genome-wide association study

Wang, T. J., Zhang, F., Richards, J. B., Kestenbaum, B., Van Meurs, J. B., Berry, D., Kiel, D. P., Streeten, E. A., Ohlsson, C., Koller, D. L., Peltonen, L., Cooper, J. D., O'Reilly, P. F., Houston, D. K., Glazer, N. L., Vandenput, L., Peacock, M., Shi, J., Rivadeneira, F., McCarthy, M. I. & 56 others, Anneli, P., De Boer, I. H., Mangino, M., Kato, B., Smyth, D. J., Booth, S. L., Jacques, P. F., Burke, G. L., Goodarzi, M., Cheung, C. L., Wolf, M., Rice, K., Goltzman, D., Hidiroglou, N., Ladouceur, M., Wareham, N. J., Hocking, L. J., Hart, D., Arden, N. K., Cooper, C., Malik, S., Fraser, W. D., Hartikainen, A. L., Zhai, G., MacDonald, H. M., Forouhi, N. G., Loos, R. J. F., Reid, D. M., Hakim, A., Dennison, E., Liu, Y., Power, C., Stevens, H. E., Jaana, L., Vasan, R. S., Soranzo, N., Bojunga, J., Psaty, B. M., Lorentzon, M., Foroud, T., Harris, T. B., Hofman, A., Jansson, J. O., Cauley, J. A., Uitterlinden, A. G., Gibson, Q., Järvelin, M. R., Karasik, D., Siscovick, D. S., Econs, M., Kritchevsky, S. B., Florez, J. C., Todd, J. A., Dupuis, J., Hyppönen, E. & Spector, T. D., Feb 2011, In : Obstetrical and Gynecological Survey. 66, 2, p. 91-93 3 p.

Research output: Contribution to journalArticle