Chitayat, David

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,815

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

New, M. I., Abraham, M., Gonzalez, B., Dumic, M., Razzaghy-Azar, M., Chitayat, D., Sun, L., Zaidi, M., Wilson, R. C., & Yuen, T. (2013) · Proceedings of the National Academy of Sciences

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 365

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics

Congenital limb and hand anomaliesOcular Disorders and Treatments

Cited by 361

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 344

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Wan, J., Yourshaw, M., Mamsa, H., Rudnik-Schöneborn, S., Menezes, M. P., Hong, J. E., Leong, D. W., Senderek, J., Salman, M. S., Chitayat, D., et al. (2012) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 257

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Nakamura, K., Kato, M., Osaka, H., Yamashita, S., Nakagawa, E., Haginoya, K., Tohyama, J., Okuda, M., Wada, T., Shimakawa, S., et al. (2013) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 201

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., et al. (2017) · The American Journal of Human Genetics

Congenital Ear and Nasal AnomaliesEpigenetics and DNA Methylation

Cited by 200

A partial deficiency of interleukin-7Rα is sufficient to abrogate T-cell development and cause severe combined immunodeficiency

Roifman, C. M., Zhang, J., Chitayat, D., & Sharfe, N. (2000) · Blood

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 177

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Reijnders, M. R. F., Ansor, N. M., Kousi, M., Yue, W. W., Tan, P. L., Clarkson, K., Clayton-Smith, J., Corning, K., Jones, J. R., Lam, W. W. K., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 168

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Maass, P. G., Aydin, A., Luft, F. C., Schächterle, C., Weise, A., Stricker, S., Lindschau, C., Vaegler, M., Qadri, F., Toka, H. R., et al. (2015) · Nature Genetics

Phosphodiesterase function and regulationBlood Pressure and Hypertension Studies

Cited by 166

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 137

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics

Complement system in diseasesOral microbiology and periodontitis research

Cited by 123

Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia

Yinon, Y., Kingdom, J. C. P., Proctor, L. K., Kelly, E. N., Salle, J. L. P., Wherrett, D., Keating, S., Nevo, O., & Chitayat, D. (2010) · American Journal of Medical Genetics Part A

Urological Disorders and TreatmentsPregnancy and preeclampsia studies

Cited by 79

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus

Cleary, J. D., Tomé, S., López Castel, A., Panigrahi, G. B., Foiry, L., Hagerman, K. A., Sroka, H., Chitayat, D., Gourdon, G., & Pearson, C. E. (2010) · Nature Structural & Molecular Biology

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 69

The molecular and phenotypic spectrum of IQSEC 2‐related epilepsy

Zerem, A., Haginoya, K., Lev, D., Blumkin, L., Kivity, S., Linder, I., Shoubridge, C., Palmer, E. E., Field, M., Boyle, J., et al. (2016) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 59

Personality Traits Associated with Genetic Counselor Compassion Fatigue: The Roles of Dispositional Optimism and Locus of Control

Injeyan, M. C., Shuman, C., Shugar, A., Chitayat, D., Atenafu, E. G., & Kaiser, A. (2011) · Journal of Genetic Counseling

Stress and Burnout ResearchHealthcare professionals’ stress and burnout

Cited by 56

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration

Hirose, T., Cabrera-Socorro, A., Chitayat, D., Lemonnier, T., Féraud, O., Cifuentes-Diaz, C., Gervasi, N., Mombereau, C., Ghosh, T., Stoica, L., et al. (2019) · Journal of Clinical Investigation

ATP Synthase and ATPases ResearchAutophagy in Disease and Therapy

Cited by 55

Distinguishing Deficiencies in the Steroidogenic Acute Regulatory Protein and the Cholesterol Side Chain Cleavage Enzyme Causing Neonatal Adrenal Failure

Gucev, Z. S., Tee, M. K., Chitayat, D., Wherrett, D. K., & Miller, W. L. (2013) · The Journal of Pediatrics

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 51

The Relationship Between Burnout and Occupational Stress in Genetic Counselors

Johnstone, B., Kaiser, A., Injeyan, M. C., Sappleton, K., Chitayat, D., Stephens, D., & Shuman, C. (2016) · Journal of Genetic Counseling

Stress and Burnout ResearchHealthcare professionals’ stress and burnout

Cited by 39