Research output per year
Research output per year
- 1 - 50 out of 1,131 results
Search results
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2024
Assessing network degeneration and phenotypic heterogeneity in genetic frontotemporal lobar degeneration by decoding FDG-PET
Corriveau-Lecavalier, N., Barnard, L. R., Przybelski, S. A., Gogineni, V., Botha, H., Graff-Radford, J., Ramanan, V. K., Forsberg, L. K., Fields, J. A., Machulda, M. M., Rademakers, R., Gavrilova, R. H., Lapid, M. I., Boeve, B. F., Knopman, D. S., Lowe, V. J., Petersen, R. C., Jack, C. R., Kantarci, K. & Jones, D. T., Jan 2024, In: NeuroImage: Clinical. 41, 103559.Research output: Contribution to journal › Article › peer-review
Open Access -
Association of Blood Metabolomics Biomarkers with Brain Metabolites and Patient-Reported Outcomes as a New Approach in Individualized Diagnosis of Schizophrenia
Krzyściak, W., Bystrowska, B., Karcz, P., Chrzan, R., Bryll, A., Turek, A., Mazur, P., Śmierciak, N., Szwajca, M., Donicz, P., Furman, K., Pilato, F., Kozicz, T., Popiela, T. & Pilecki, M., Feb 2024, In: International journal of molecular sciences. 25, 4, 2294.Research output: Contribution to journal › Article › peer-review
Open Access -
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Undiagnosed Diseases Network, Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.Research output: Contribution to journal › Article › peer-review
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Deciphering Developmental Disorders, Genomics England Research Consortium & Undiagnosed Disease Network, Feb 2024, In: Genetics in Medicine. 26, 2, 101023.Research output: Contribution to journal › Article › peer-review
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Stegmann, J. D., Kalanithy, J. C., Dworschak, G. C., Ishorst, N., Mingardo, E., Lopes, F. M., Ho, Y. M., Grote, P., Lindenberg, T. T., Yilmaz, Ö., Channab, K., Seltzsam, S., Shril, S., Hildebrandt, F., Boschann, F., Heinen, A., Jolly, A., Myers, K., McBride, K., Bekheirnia, M. R., & 51 others, Dec 2024, In: npj Genomic Medicine. 9, 1, 18.Research output: Contribution to journal › Article › peer-review
Open Access -
Commentary on A Differential Diagnosis of Thrombotic Microangiopathy in a 7-Year-Old Girl
Moyer, A. M., Feb 1 2024, In: Clinical chemistry. 70, 2, p. 373 1 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
Undiagnosed Diseases Network, Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 17-30 14 p.Research output: Contribution to journal › Article › peer-review
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De novo variants in DENND5B cause a neurodevelopmental disorder
Undiagnosed Diseases Network, Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Disease progression in Sanfilippo type B: Case series of Brazilian patients
Montenegro, Y. H. A., Kubaski, F., Trapp, F. B., Riegel-Giugliani, M., de Souza, C. F. M., Ribeiro, E. M., Lourenço, C. M., Cardoso-Dos-santos, A. C., Ribeiro, M. G., Kim, C. A., Castro, M. A. A., Embiruçu, E. K., Steiner, C. E., Vairo, F. P. E., Baldo, G., Giugliani, R. & Poswar, F. D. O., 2024, In: Genetics and Molecular Biology. 47, 1, e20230285.Research output: Contribution to journal › Article › peer-review
Open Access -
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts
Budhraja, R., Joshi, N., Radenkovic, S., Kozicz, T., Morava, E. & Pandey, A., 2024, (Accepted/In press) In: Proteomics.Research output: Contribution to journal › Article › peer-review
Open Access -
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
Undiagnosed Diseases Network, 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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From pandemic to endemic: Divergence of COVID-19 positive-tests and hospitalization numbers from SARS-CoV-2 RNA levels in wastewater of Rochester, Minnesota
Majumdar, R., Taye, B., Bjornberg, C., Giljork, M., Lynch, D., Farah, F., Abdullah, I., Osiecki, K., Yousaf, I., Luckstein, A., Turri, W., Sampathkumar, P., Moyer, A. M., Kipp, B. R., Cattaneo, R., Sussman, C. R. & Navaratnarajah, C. K., Mar 30 2024, In: Heliyon. 10, 6, e27974.Research output: Contribution to journal › Article › peer-review
Open Access -
From periphery immunity to central domain through clinical interview as a new insight on schizophrenia
Krzyściak, W., Szwajca, M., Śmierciak, N., Chrzan, R., Turek, A., Karcz, P., Bryll, A., Pilecki, M., Morava, E., Ligęzka, A., Kozicz, T., Mazur, P., Batko, B., Skalniak, A. & Popiela, T., Dec 2024, In: Scientific reports. 14, 1, 5755.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis
Alrehaili, G., Kemppainen, J., Kalra, S., Pinto e Vairo, F., Moua, T., Yi, E. S., Ferrer, A., Patnaik, M. M. & Carmona, E. M., 2024, (Accepted/In press) In: Lung.Research output: Contribution to journal › Article › peer-review
Open Access -
Hippocampal Trauma Memory Processing Conveying Susceptibility to Traumatic Stress
Dirven, B. C. J., van Melis, L., Daneva, T., Dillen, L., Homberg, J. R., Kozicz, T. & Henckens, M. J. A. G., Mar 5 2024, In: Neuroscience. 540, p. 87-102 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Impact of pharmacogenomic profiles on post-surgical pain following laparotomy for gynecologic pathology
Glaser, G. E., Maddy, B., Kumar, A., Ishitani, K., Lemens, M. A., Hanson, K., Moyer, A. M., Habermann, E. & Dowdy, S. C., Apr 2024, In: Gynecologic oncology. 183, p. 9-14 6 p.Research output: Contribution to journal › Article › peer-review
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Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes
Beecher, G., Gavrilova, R. H., Mandrekar, J. & Naddaf, E., 2024, In: Brain Communications. 6, 2, fcae041.Research output: Contribution to journal › Article › peer-review
Open Access -
Molecules, metabolism and genetics
Morava, E., Jan 2024, In: Molecular genetics and metabolism. 141, 1, 108126.Research output: Contribution to journal › Editorial › peer-review
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Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Radenkovic, S., Budhraja, R., Klein-Gunnewiek, T., King, A. T., Bhatia, T. N., Ligezka, A. N., Driesen, K., Shah, R., Ghesquière, B., Pandey, A., Kasri, N. N., Sloan, S. A., Morava, E. & Kozicz, T., Mar 26 2024, In: Cell reports. 43, 3, 113883.Research output: Contribution to journal › Article › peer-review
Open Access -
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions
Muthusamy, K., Perez-Ortiz, J. M., Ligezka, A. N., Altassan, R., Johnsen, C., Schultz, M. J., Patterson, M. C. & Morava, E., Feb 2024, In: Genetics in Medicine. 26, 2, 101027.Research output: Contribution to journal › Article › peer-review
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Undiagnosed Diseases Network, 2024, (Accepted/In press) In: Annals of Clinical and Translational Neurology.Research output: Contribution to journal › Article › peer-review
Open Access -
The Journal of Applied Laboratory Medicine Special Issue on Molecular Diagnostics
Sidiropoulos, N., Vail, E., Graf, E. H., Moyer, A. M., Buchan, J. G. & Nardi, V., Jan 1 2024, In: Journal of Applied Laboratory Medicine. 9, 1Research output: Contribution to journal › Editorial › peer-review
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Thoracic Aortic Aneurysmal Disease: Comprehensive Recommendations for the Primary Care Physician
Reddy, P., Nair, K. S., Kumar, V., Bowen, J. M., Deyle, D. R., Pochettino, A., Connolly, H. M. & Anavekar, N. S., Jan 2024, In: Mayo Clinic proceedings. 99, 1, p. 111-123 13 p.Research output: Contribution to journal › Short survey › peer-review
Open Access -
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice
Semler, O., Cormier-Daire, V., Lausch, E., Bober, M. B., Carroll, R., Sousa, S. B., Deyle, D., Faden, M., Hartmann, G., Huser, A. J., Legare, J. M., Mohnike, K., Rohrer, T. R., Rutsch, F., Smith, P., Travessa, A. M., Verardo, A., White, K. K., Wilcox, W. R. & Hoover-Fong, J., Jan 2024, In: Advances in Therapy. 41, 1, p. 198-214 17 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2023
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)
Balakrishnan, B., Altassan, R., Budhraja, R., Liou, W., Lupo, A., Bryant, S., Mankouski, A., Radenkovic, S., Preston, G. J., Pandey, A., Boudina, S., Kozicz, T., Morava-Kozicz, E. & Lai, K., Jul 2023, In: Translational Research. 257, p. 1-14 14 p.Research output: Contribution to journal › Article › peer-review
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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
Undiagnosed Diseases Network & Undiagnosed Diseases Network, Apr 2023, In: Genetics in Medicine. 25, 4, 100353.Research output: Contribution to journal › Article › peer-review
Open Access -
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Muthusamy, K., Sivadasan, A., Dixon, L., Sudhakar, S., Thomas, M., Danda, S., Wszolek, Z. K., Wierenga, K., Dhamija, R. & Gavrilova, R., 2023, In: Frontiers in Neurology. 14, 1219324.Research output: Contribution to journal › Review article › peer-review
Open Access -
Antidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania
Gardea-Resendez, M., Coombes, B. J., Veldic, M., Tye, S. J., Romo-Nava, F., Ozerdem, A., Prieto, M. L., Cuellar-Barboza, A., Nunez, N. A., Singh, B., Pendegraft, R. S., Miola, A., McElroy, S. L., Biernacka, J. M., Morava, E., Kozicz, T. & Frye, M. A., Mar 2023, In: Molecular Psychiatry. 28, 3, p. 1020-1026 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Aortic Dissection in a Young Patient With Unsuspected Aortopathy
Perez, Y., Qureshi, M. Y., Babovic-Vuksanovic, D. & Cannon, B., Aug 2023, In: Pediatrics. 152, 2, e2022057694.Research output: Contribution to journal › Article › peer-review
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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Undiagnosed Diseases Network, Dec 2023, In: npj Genomic Medicine. 8, 1, 4.Research output: Contribution to journal › Article › peer-review
Open Access -
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Morales-Rosado, J. A., Schwab, T. L., Macklin-Mantia, S. K., Foley, A. R., Pinto e Vairo, F., Pehlivan, D., Donkervoort, S., Rosenfeld, J. A., Boyum, G. E., Hu, Y., Cong, A. T. Q., Lotze, T. E., Mohila, C. A., Saade, D., Bharucha-Goebel, D., Chao, K. R., Grunseich, C., Bruels, C. C., Littel, H. R., Estrella, E. A., & 10 others, Jun 1 2023, In: American journal of human genetics. 110, 6, p. 989-997 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Undiagnosed Diseases Network, May 4 2023, In: American journal of human genetics. 110, 5, p. 774-789 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Undiagnosed Diseases Network, Sep 2023, In: Genetics in Medicine. 25, 9, 100897.Research output: Contribution to journal › Article › peer-review
Open Access -
Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project
Gaedigk, A., Boone, E. C., Turner, A. J., van Schaik, R. H. N., Chernova, D., Wang, W. Y., Broeckel, U., Granfield, C. A., Hodge, J. C., Ly, R. C., Lynnes, T. C., Mitchell, M. W., Moyer, A. M., Oliva, J. & Kalman, L. V., Sep 2023, In: Journal of Molecular Diagnostics. 25, 9, p. 655-664 10 p.Research output: Contribution to journal › Article › peer-review
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Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy
Bhandarkar, A. R., Bhandarkar, S., Babovic-Vuksanovic, D., Parney, I. F. & Spinner, R. J., Sep 2023, In: Journal of neuro-oncology. 164, 3, p. 693-699 7 p.Research output: Contribution to journal › Article › peer-review
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Clinical impact of KIR haplotypes in 10/10 HLA-matched unrelated donor-recipient pairs undergoing allogeneic hematopoietic stem cell transplantation
Moyer, A. M., Hashmi, S. K., Kroning, C. M., Patnaik, M., Litzow, M., Gastineau, D. A., Hogan, W. J., Jacob, E. K., Kreuter, J. D., Wakefield, L. L. & Gandhi, M. J., 2023, In: Leukemia and Lymphoma. 64, 3, p. 671-678 8 p.Research output: Contribution to journal › Article › peer-review
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Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation
De Graef, D., Ligezka, A. N., Rezents, J., Mazza, G. L., Preston, G., Schwartz, K., Krzysciak, W., Lam, C., Edmondson, A. C., Johnsen, C., Kozicz, T. & Morava, E., Jun 2023, In: Molecular genetics and metabolism. 139, 2, 107606.Research output: Contribution to journal › Article › peer-review
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Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation
behalf of the Mayo Clinic Complement Alternative Pathway-Thrombotic Microangiopathy (CAP-TMA) Disease-Oriented Group, Feb 14 2023, In: Blood Advances. 7, 3, p. 340-350 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy
Kárteszi, J., Ziegler, A., Tihanyi, M., Elmont, B., Zhang, Y., Patócs, B., Molnár, M. J., Méhes, G., Wells, K., Jakus, R., Bessenyei, B., Ranatunga, W. & Morava, É., Sep 2023, In: American Journal of Medical Genetics, Part A. 191, 9, p. 2428-2432 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing
Choate, L. A., Koleilat, A., Harris, K., Vidal-Folch, N., Guenzel, A., Newman, J., Peterson, B. J., Peterson, S. E., Rice, C. S., Train, L. J., Hasadsri, L., Marcou, C. A., Moyer, A. M. & Baudhuin, L. M., Oct 1 2023, In: Clinical chemistry. 69, 10, p. 1155-1162 8 p.Research output: Contribution to journal › Article › peer-review
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Congenital disorders of glycosylation: narration of a story through its patents
Monticelli, M., D’Onofrio, T., Jaeken, J., Morava, E., Andreotti, G. & Cubellis, M. V., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 247.Research output: Contribution to journal › Review article › peer-review
Open Access -
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
Undiagnosed Disease Network, Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 6.Research output: Contribution to journal › Article › peer-review
Open Access -
CYP3A4 and CYP3A5 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase
Pratt, V. M., Cavallari, L. H., Fulmer, M. L., Gaedigk, A., Hachad, H., Ji, Y., Kalman, L. V., Ly, R. C., Moyer, A. M., Scott, S. A., van Schaik, R. H. N., Whirl-Carrillo, M. & Weck, K. E., Sep 2023, In: Journal of Molecular Diagnostics. 25, 9, p. 619-629 11 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Colonetti, K., Pinto e Vairo, F., Siebert, M., Nalin, T., Poloni, S., Fernando Wurdig Roesch, L., Fischinger Moura de Souza, C., Cabral Pinheiro, F. & Vanessa Doederlein Schwartz, I., Feb 2023, In: Cytokine. 162, 156088.Research output: Contribution to journal › Article › peer-review
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Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases
Altassan, R., Allers, M. M., De Graef, D., Shah, R., de Vries, M., Larson, A., Glamuzina, E. & Morava, E., Nov 2023, In: Molecular genetics and metabolism. 140, 3, 107688.Research output: Contribution to journal › Article › peer-review
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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Undiagnosed Diseases Network & Telethon Undiagnosed Diseases Program, Aug 3 2023, In: American journal of human genetics. 110, 8, p. 1377-1393 17 p.Research output: Contribution to journal › Article › peer-review
Open Access -
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
Undiagnosed Diseases Network, Jun 2023, In: Genetics in Medicine. 25, 6, 100833.Research output: Contribution to journal › Article › peer-review
Open Access -
Determination of the Duplicated CYP2D6 Allele Using Real-Time PCR Signal: An Alternative Approach
Atiq, M. A., Peterson, S. E., Langman, L. J., Baudhuin, L. M., Black, J. L. & Moyer, A. M., Jun 2023, In: Journal of Personalized Medicine. 13, 6, 883.Research output: Contribution to journal › Article › peer-review
Open Access -
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
Pillai, N. R., Fabie, N. A. V., Kaye, T. V., Rosendahl, S. D., Ahmed, A., Hietala, A. D., Jorgenson, A. B., Lanpher, B. C. & Whitley, C. B., Sep 1 2023, In: Molecular genetics and metabolism. 140, 1-2, 107633.Research output: Contribution to journal › Article › peer-review
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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
Oftedal, B. E., Assing, K., Baris, S., Safgren, S. L., Johansen, I. S., Jakobsen, M. A., Babovic-Vuksanovic, D., Agre, K., Klee, E. W., Majcic, E., Ferré, E. M. N., Schmitt, M. M., DiMaggio, T., Rosen, L. B., Rahman, M. O., Chrysis, D., Giannakopoulos, A., Garcia, M. T., González-Granado, L. I., Stanley, K., & 5 others, Jun 16 2023, In: iScience. 26, 6, 106818.Research output: Contribution to journal › Article › peer-review
Open Access