Lupski, James R.

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

Lalani, S. R., Thakuria, J. V., Cox, G. F., Wang, X., Bi, W., Bray, M. S., Shaw, C., Cheung, S. W., Chinault, A. C., Boggs, B. A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesCardiac Arrhythmias and Treatments

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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Cook, S. A., Comrie, W. A., Poli, M. C., Similuk, M., Oler, A. J., Faruqi, A. J., Kuhns, D. B., Yang, S., Vargas-Hernández, A., Carisey, A. F., et al. (2020) · Science

Immunodeficiency and Autoimmune DisordersPI3K/AKT/mTOR signaling in cancer

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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C. W., Khandelwal, K. D., Dreesen, K., Ludwig, K. U., Sullivan, R., van Rooij, I. A. L. M., Thonissen, M., Swinnen, S., Phan, M., Conte, F., et al. (2016) · Genetics in Medicine

dental development and anomaliesCleft Lip and Palate Research

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Study, D. (. D. I. S. A. C., Liu, J., Zhou, Y., Liu, S., Song, X., Yang, X.-Z., Fan, Y., Chen, W., Akdemir, Z. C., Yan, Z., et al. (2018) · Human Genetics

Genetic Associations and EpidemiologyGenomic variations and chromosomal abnormalities

Cited by 77

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Boone, P. M., Campbell, I. M., Baggett, B. C., Soens, Z. T., Rao, M. M., Hixson, P. M., Patel, A., Bi, W., Cheung, S. W., Lalani, S. R., et al. (2013) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Le Coz, C., Nguyen, D. N., Su, C., Nolan, B. E., Albrecht, A. V., Xhani, S., Sun, D., Demaree, B., Pillarisetti, P., Khanna, C., et al. (2021) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersGenomics and Chromatin Dynamics

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Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations

Boone, P. M., Reiter, R. J., Glaze, D. G., Tan, D., Lupski, J. R., & Potocki, L. (2011) · American Journal of Medical Genetics Part A

Circadian rhythm and melatoninGenetics and Neurodevelopmental Disorders

Cited by 47

Retrotransposition and structural variation in the human genome

Lupski, J. R. (2010) · Cell

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Xie, Y. (., Lee, W., Cai, C., Gambin, T., Nõupuu, K., Sujirakul, T., Ayuso, C., Jhangiani, S., Muzny, D., Boerwinkle, E., et al. (2014) · Human Molecular Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Dawood, M., Fayer, S., Pendyala, S., Post, M., Kalra, D., Patterson, K., Venner, E., Muffley, L. A., Fowler, D. M., Rubin, A. F., et al. (2024) · Genome Medicine

Genomics and Rare DiseasesRace, Genetics, and Society

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Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, C. E., Gonzaga-Jauregui, C., Tannenbaum, R., Penney, S., Lupski, J. R., Hopkin, R. J., & Sutton, V. R. (2014) · European Journal of Medical Genetics

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 29

Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1

Lacaria, M., Gu, W., & Lupski, J. R. (2013) · American Journal of Medical Genetics Part A

Circadian rhythm and melatoninSleep and Wakefulness Research

Cited by 28

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 19

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

Gillentine, M. A., White, J. J., Grochowski, C. M., Lupski, J. R., Schaaf, C. P., & Calarge, C. A. (2017) · Journal of Child and Adolescent Psychopharmacology

Genomic variations and chromosomal abnormalitiesNicotinic Acetylcholine Receptors Study

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L., et al. (2024) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Sczakiel, H. L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., Damseh, N., Al-Ashhab, M., Balci, T. B., Osmond, M., et al. (2023) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Comrie, W. A., Poli, M. C., Cook, S. A., Similuk, M., Oler, A. J., Faruqi, A. J., Kuhns, D. B., Yang, S., Carisey, A. F., Fournier, B., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

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