Krantz, Ian D.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 2,882

Rare Variants Create Synthetic Genome-Wide Associations

Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H., & Goldstein, D. B. (2010) · PLoS Biology

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 857

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., et al. (2004) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 713

Microduplications of 16p11.2 are associated with schizophrenia

Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 711

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Deardorff, M. A., Bando, M., Nakato, R., Watrin, E., Itoh, T., Minamino, M., Saitoh, K., Komata, M., Katou, Y., Clark, D., et al. (2012) · Nature

Genomics and Chromatin DynamicsDNA Repair Mechanisms

Cited by 577

USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder.

Hao, Y.-H., Fountain, M. D., Fon Tacer, K., Xia, F., Bi, W., Kang, S.-H. L., Patel, A., Rosenfeld, J. A., Le Caignec, C., Isidor, B., et al. (2015) · Molecular Cell

Ubiquitin and proteasome pathwaysCellular transport and secretion

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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Aref-Eshghi, E., Bend, E. G., Colaiacovo, S., Caudle, M., Chakrabarti, R., Napier, M., Brick, L., Brady, L., Carere, D. A., Levy, M. A., et al. (2019) · The American Journal of Human Genetics

Genomics and Rare DiseasesEpigenetics and DNA Methylation

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., Gomez-Ospina, N., Gallant, N., Bernstein, J. A., Hudgins, L., et al. (2015) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 145

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Braunholz, D., Hullings, M., Gil-Rodríguez, M. C., Fincher, C. T., Mallozzi, M. B., Loy, E., Albrecht, M., Kaur, M., Limon, J., Rampuria, A., et al. (2012) · European Journal of Human Genetics

Genomics and Rare DiseasesDNA Repair Mechanisms

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Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines

Zhang, Z., Liu, J., Kaur, M., & Krantz, I. D. (2012) · Genomics

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

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Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome

Cacioppo, C. N., Conway, L. J., Mehta, D., Krantz, I. D., & Noon, S. E. (2016) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Health Literacy and Information AccessibilityGenomics and Rare Diseases

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