Hirschhorn, Joel N.

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), Horikoshi, M., Early Growth Genetics (EGG) Consortium, Yaghootkar, H., Mook-Kanamori, D. O., Sovio, U., Taal, H. R., Hennig, B. J., Bradfield, J. P., St Pourcain, B., et al. (2013) · Nature Genetics

Birth, Development, and HealthGenetic Associations and Epidemiology

Cited by 309

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

Asai, M., Ramachandrappa, S., Joachim, M., Shen, Y., Zhang, R., Nuthalapati, N., Ramanathan, V., Strochlic, D. E., Ferket, P., Linhart, K., et al. (2013) · Science

Regulation of Appetite and ObesityHypothalamic control of reproductive hormones

Cited by 290

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Australian Asthma Genetics Consortium (AAGC), Bønnelykke, K., the EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium, Matheson, M. C., Pers, T. H., Granell, R., Strachan, D. P., Alves, A. C., Linneberg, A., Curtin, J. A., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyAllergic Rhinitis and Sensitization

Cited by 244

Interrogation of human hematopoiesis at single-cell and single-variant resolution

Ulirsch, J. C., Lareau, C. A., Bao, E. L., Ludwig, L. S., Guo, M. H., Benner, C., Satpathy, A. T., Kartha, V. K., Salem, R. M., Hirschhorn, J. N., et al. (2019) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 208

Once and Again—Issues Surrounding Replication in Genetic Association Studies

Hirschhorn, J. N., & Altshuler, D. (2002) · The Journal of Clinical Endocrinology & Metabolism

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 181

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3

Macedo, D. B., Abreu, A. P., Reis, A. C. S., Montenegro, L. R., Dauber, A., Beneduzzi, D., Cukier, P., Silveira, L. F. G., Teles, M. G., Carroll, R. S., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGenetic Syndromes and Imprinting

Cited by 140

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Flannick, J., Beer, N. L., Bick, A. G., Agarwala, V., Molnes, J., Gupta, N., Burtt, N. P., Florez, J. C., Meigs, J. B., Taylor, H., et al. (2013) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 136

Genetic approaches to stature, pubertal timing, and other complex traits

Palmert, M. R., & Hirschhorn, J. N. (2003) · Molecular Genetics and Metabolism

Genetic Associations and EpidemiologyHypothalamic control of reproductive hormones

Cited by 135

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

Wild, P. S., Felix, J. F., Schillert, A., Teumer, A., Chen, M.-H., Leening, M. J. G., Völker, U., Großmann, V., Brody, J. A., Irvin, M. R., et al. (2017) · Journal of Clinical Investigation

Genetic Associations and EpidemiologyCardiac electrophysiology and arrhythmias

Cited by 129

Genetic determinants of pubertal timing in the general population

Gajdos, Z. K. Z., Henderson, K. D., Hirschhorn, J. N., & Palmert, M. R. (2010) · Molecular and Cellular Endocrinology

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 121

Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood

Widén, E., Ripatti, S., Cousminer, D. L., Surakka, I., Lappalainen, T., Järvelin, M.-R., Eriksson, J. G., Raitakari, O., Salomaa, V., Sovio, U., et al. (2010) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyHypothalamic control of reproductive hormones

Cited by 88

Genetic evidence that carbohydrate-stimulated insulin secretion leads to obesity

Astley, C. M., Todd, J. N., Salem, R. M., Vedantam, S., Ebbeling, C. B., Huang, P. L., Ludwig, D. S., Hirschhorn, J. N., & Florez, J. C. (2018) · Clinical Chemistry

Genetic Associations and EpidemiologyPancreatic function and diabetes

Cited by 86

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

Guo, M. H., Nandakumar, S. K., Ulirsch, J. C., Zekavat, S. M., Buenrostro, J. D., Natarajan, P., Salem, R. M., Chiarle, R., Mitt, M., Kals, M., et al. (2017) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 54

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Guo, M. H., Stoler, J., Lui, J., Nilsson, O., Bianchi, D. W., Hirschhorn, J. N., & Dauber, A. (2013) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 52

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 49

Vascular Stiffness and Genetic Variation at the Endothelial Nitric Oxide Synthase Locus: The Framingham Heart Study

Mitchell, G. F., Guo, C.-Y., Kathiresan, S., Vasan, R. S., Larson, M. G., Vita, J. A., Keyes, M. J., Vyas, M., Newton-Cheh, C., Musone, S. L., et al. (2007) · Hypertension

Cardiovascular Health and Disease PreventionGenetic Associations and Epidemiology

Cited by 38

Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty

Silveira-Neto, A. P., Leal, L. F., Emerman, A. B., Henderson, K. D., Piskounova, E., Henderson, B. E., Gregory, R. I., Silveira, L. F. G., Hirschhorn, J. N., Nguyen, T. T., et al. (2012) · Hormone Research in Paediatrics

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 34

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

Dauber, A., Hirschhorn, J. N., Picker, J., Maher, T. A., & Milunsky, A. (2010) · Pediatrics

Congenital Ear and Nasal AnomaliesGenomics and Rare Diseases

Cited by 20