Seidman, Jonathan G.

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

Rosenzweig, A., Watkins, H., Hwang, D.-S., Miri, M., McKenna, W., Traill, T. A., Seidman, J. G., & Seidman, C. E. (1991) · New England Journal of Medicine

Cardiomyopathy and Myosin StudiesGenomics and Rare Diseases

Cited by 181

The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome

Bamshad, M., Le, T., Watkins, W. S., Dixon, M. E., Kramer, B. E., Roeder, A. D., Carey, J. C., Root, S., Schinzel, A., Van Maldergem, L., et al. (1999) · The American Journal of Human Genetics

Congenital limb and hand anomaliesdental development and anomalies

Cited by 175

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Gensure, R. C., Mäkitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., et al. (2005) · Journal of Clinical Investigation

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 172

Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

Yotti, R., Seidman, C. E., & Seidman, J. G. (2019) · Annual Review of Genomics and Human Genetics

Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmias

Cited by 168

A selective role of calcineurin Aα in synaptic depotentiation in hippocampus

Zhuo, M., Zhang, W., Son, H., Mansuy, I., Sobel, R. A., Seidman, J., & Kandel, E. R. (1999) · Proceedings of the National Academy of Sciences

Neuroscience and Neuropharmacology ResearchSignaling Pathways in Disease

Cited by 166

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

Structure of the DNA-Bound T-Box Domain of Human TBX3, a Transcription Factor Responsible for Ulnar-Mammary Syndrome

Coll, M., Seidman, J. G., & Müller, C. W. (2002) · Structure

Protein Structure and DynamicsGenomics and Chromatin Dynamics

Cited by 121

Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease

Kathiriya, I. S., Rao, K. S., Iacono, G., Devine, W. P., Blair, A. P., Hota, S. K., Lai, M. H., Garay, B. I., Thomas, R., Gong, H. Z., et al. (2021) · Developmental Cell

Congenital heart defects researchPluripotent Stem Cells Research

Cited by 116

Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression

Chaplin, D. D., Galbraith, L. J., Seidman, J. G., White, P. C., & Parker, K. L. (1986) · Proceedings of the National Academy of Sciences

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 98

Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor

Guo, Y., Jardin, B. D., Zhou, P., Sethi, I., Akerberg, B. N., Toepfer, C. N., Ai, Y., Li, Y., Ma, Q., Guatimosim, S., et al. (2018) · Nature Communications

Congenital heart defects researchCardiac electrophysiology and arrhythmias

Cited by 96

Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease

Katz, D. H., Tahir, U. A., Bick, A. G., Pampana, A., Ngo, D., Benson, M. D., Yu, Z., Robbins, J. M., Chen, Z.-Z., Cruz, D. E., et al. (2022) · Circulation

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 92

Telomere shortening is a hallmark of genetic cardiomyopathies

Chang, A. C. Y., Chang, A. C. H., Kirillova, A., Sasagawa, K., Su, W., Weber, G., Lin, J., Termglinchan, V., Karakikes, I., Seeger, T., et al. (2018) · Proceedings of the National Academy of Sciences

Telomeres, Telomerase, and SenescenceCardiomyopathy and Myosin Studies

Cited by 91

Reversibility of PRKAG2 Glycogen-Storage Cardiomyopathy and Electrophysiological Manifestations

Wolf, C. M., Arad, M., Ahmad, F., Sanbe, A., Bernstein, S. A., Toka, O., Konno, T., Morley, G., Robbins, J., Seidman, J. G., et al. (2008) · Circulation

Glycogen Storage Diseases and MyoclonusCardiac electrophysiology and arrhythmias

Cited by 89

An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: Applications in mice with bone property altering Lrp5 mutations

Ayturk, U. M., Jacobsen, C. M., Christodoulou, D. C., Gorham, J., Seidman, J. G., Seidman, C. E., Robling, A. G., & Warman, M. L. (2013) · Journal of Bone and Mineral Research

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 84

Engineering a living cardiac pump on a chip using high-precision fabrication

Michas, C., Karakan, M. Ç., Nautiyal, P., Seidman, J. G., Seidman, C. E., Agarwal, A., Ekinci, K., Eyckmans, J., White, A. E., & Chen, C. S. (2022) · Science Advances

3D Printing in Biomedical ResearchTissue Engineering and Regenerative Medicine

Cited by 82

RNA expression profile of calcified bicuspid, tricuspid, and normal human aortic valves by RNA sequencing

Guauque-Olarte, S., Droit, A., Tremblay-Marchand, J., Gaudreault, N., Kalavrouziotis, D., Dagenais, F., Seidman, J. G., Body, S. C., Pibarot, P., Mathieu, P., et al. (2016) · Physiological Genomics

Cardiac Valve Diseases and TreatmentsAortic Disease and Treatment Approaches

Cited by 82

Expression of murine 21-hydroxylase in mouse adrenal glands and in transfected Y1 adrenocortical tumor cells

Parker, K. L., Chaplin, D. D., Wong, M., Seidman, J. G., Smith, J. A., & Schimmer, B. P. (1985) · Proceedings of the National Academy of Sciences

Adrenal Hormones and DisordersHormonal Regulation and Hypertension

Cited by 76

Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease

Guauque-Olarte, S., Messika-Zeitoun, D., Droit, A., Lamontagne, M., Tremblay-Marchand, J., Lavoie-Charland, E., Gaudreault, N., Arsenault, B. J., Dubé, M.-P., Tardif, J.-C., et al. (2015) · Circulation: Cardiovascular Genetics

Cardiac Valve Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 72

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., et al. (2021) · JAMA Cardiology

Congenital Heart Disease StudiesGenomics and Rare Diseases

Cited by 62

BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathy

Antolic, A., Wakimoto, H., Jiao, Z., Gorham, J. M., DePalma, S. R., Lemieux, M. E., Conner, D. A., Lee, D. Y., Qi, J., Seidman, J. G., et al. (2020) · JCI Insight

Cardiac Fibrosis and RemodelingCardiomyopathy and Myosin Studies

Cited by 41

A classic twin study of external ear malformations, including microtia

Artunduaga, M. A., Quintanilla-Dieck, M. D. L., Greenway, S., Betensky, R., Nicolau, Y., Hamdan, U., Jarrin, P., Osorno, G., Brent, B., Eavey, R., et al. (2009) · New England Journal of Medicine

Congenital Ear and Nasal AnomaliesReconstructive Facial Surgery Techniques

Cited by 39

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Cade, B. E., Lee, J., Sofer, T., Wang, H., Zhang, M., Chen, H., Gharib, S. A., Gottlieb, D. J., Guo, X., Lane, J. M., et al. (2021) · Genome Medicine

Obstructive Sleep Apnea ResearchGenetic Associations and Epidemiology

Cited by 33

Structural variation across 138,134 samples in the TOPMed consortium

Jun, G., English, A., Metcalf, G., Yang, J., Chaisson, M., Pankratz, N., Menon, V., Salerno, W., Krasheninina, O., Smith, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 24