Weiyi Mu

Research output

Research output per year 2015 2016 2018 2019 2020 2021 2022 2023 2023

• 29 Article

Research output per year

Research output per year

Search results

• 2023

  A case of familial frontotemporal dementia caused by a progranulin gene mutation

  Currens, L., Harrison, N., Schmidt, M., Amjad, H., Mu, W., Scholz, S. W., Bang, J. & Pantelyat, A., Jan 2023, In: Clinical Parkinsonism and Related Disorders. 9, 100213.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Progranulins 100%
  • Frontotemporal Dementia 81%
  • Dementia 54%
  • Mutation 36%
  • Genes 26%

• Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis

  Dratch, L., Mu, W., Wood, E. M. C., Morgan, B., Massimo, L., Clyburn, C., Bardakjian, T., Grossman, M., Irwin, D. J. & Cousins, K. A. Q., Dec 2023, In: PEC Innovation. 2, 100108.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Amyotrophic Lateral Sclerosis 100%
  • Congresses 92%
  • Genetic Counseling 76%
  • human being 48%
  • evaluation 42%

• Sex Chromosome Rearrangement Associated With Hormonal Abnormalities and Gender Dysphoria

  Cordner, Z. A., Mu, W., Schmidt, C. W., Kraft, C. & Thomas, K., Jan 5 2023, In: Journal of psychiatric practice. 29, 1, p. 71-76 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Gender Dysphoria 100%
  • Sex Chromosomes 82%
  • Sex Chromosome Aberrations 68%
  • Inborn Errors Steroid Metabolism 47%
  • Physiological Sexual Dysfunctions 34%

• The Genetic Testing Experience of Individuals with Parkinson's Disease

  Richards, S., Mu, W., Nusbaum, R., Lincoln, K. & Solimine, J., Feb 2023, In: Movement Disorders Clinical Practice. 10, 2, p. 248-257 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Genetic Testing 100%
  • Parkinson Disease 81%
  • Counselors 37%
  • Direct-To-Consumer Screening and Testing 27%
  • Analysis of Variance 12%

• The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis

  Dratch, L., Owczarzak, J., Mu, W., Cousins, K. A. Q., Massimo, L., Grossman, M. & Erby, L., 2023, (Accepted/In press) In: Journal of Genetic Counseling.

  Research output: Contribution to journal › Article › peer-review

  • Amyotrophic Lateral Sclerosis 100%
  • Uncertainty 21%
  • Personhood 18%
  • Genetic Engineering 14%
  • Genetic Counseling 12%
• 2022

  Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome

  Wang, Y., Clemens, J. L., Muriello, M., Mu, W., Smith, C. H., Tran, P. T., Rowe, P. C., Francomano, C., Kline, A. D. & Bodurtha, J., 2022, (Accepted/In press) In: Journal of Child Health Care.

  Research output: Contribution to journal › Article › peer-review

  • Ehlers-Danlos Syndrome 100%
  • Proxy 74%
  • Self Report 62%
  • Pediatrics 45%
  • Child 30%

• Genetic testing for the epilepsies: A systematic review

  Sheidley, B. R., Malinowski, J., Bergner, A. L., Bier, L., Gloss, D. S., Mu, W., Mulhern, M. M., Partack, E. J. & Poduri, A., Feb 2022, In: Epilepsia. 63, 2, p. 375-387 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Genetic Testing 100%
  • Epilepsy 81%
  • Systematic Reviews 71%
  • Meta-Analysis 57%
  • Exome 46%

• Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

  McKnight, D., Morales, A., Hatchell, K. E., Bristow, S. L., Bonkowsky, J. L., Perry, M. S., Berg, A. T., Borlot, F., Esplin, E. D., Moretz, C., Angione, K., Ríos-Pohl, L., Nussbaum, R. L., Aradhya, S., Haldeman-Englert, C. R., Levy, R. J., Parachuri, V. G., Lay-Son, G., De Montellano, D. J. D. O., Ramirez-Garcia, M. A., & 105 othersBenítez Alonso, E. O., Ziobro, J., Chirita-Emandi, A., Felix, T. M., Kulasa-Luke, D., Megarbane, A., Karkare, S., Chagnon, S. L., Humberson, J. B., Assaf, M. J., Silva, S., Zarroli, K., Boyarchuk, O., Nelson, G. R., Palmquist, R., Hammond, K. C., Hwang, S. T., Boutlier, S. B., Nolan, M., Batley, K. Y., Chavda, D., Reyes-Silva, C. A., Miroshnikov, O., Zuccarelli, B., Amlie-Wolf, L., Wheless, J. W., Seinfeld, S., Kanhangad, M., Freeman, J. L., Monroy-Santoyo, S., Rodriguez-Vazquez, N., Ryan, M. M., MacHie, M., Guerra, P., Hassan, M. J., Candee, M. S., Bupp, C. P., Park, K. L., Muller, E., Lupo, P., Pedersen, R. C., Arain, A. M., Murphy, A., Schatz, K., Mu, W., Kalika, P. M., Plaza, L., Kellogg, M. A., Lora, E. G., Carson, R. P., Svystilnyk, V., Venegas, V., Luke, R. R., Jiang, H., Stetsenko, T., Dueñas-Roque, M. M., Trasmonte, J., Burke, R. J., Hurst, A. C. E., Smith, D. M., Massingham, L. J., Pisani, L., Costin, C. E., Ostrander, B., Filloux, F. M., Ananth, A. L., Mohamed, I. S., Nechai, A., Dao, J. M., Fahey, M. C., Aliu, E., Falchek, S., Press, C. A., Treat, L., Eschbach, K., Starks, A., Kammeyer, R., Bear, J. J., Jacobson, M., Chernuha, V., Meibos, B., Wong, K., Sweney, M. T., Espinoza, A. C., Van Orman, C. B., Weinstock, A., Kumar, A., Soler-Alfonso, C., Nolan, D. A., Raza, M., Rojas Carrion, M. D., Chari, G., Marsh, E. D., Shiloh-Malawsky, Y., Parikh, S., Gonzalez-Giraldo, E., Fulton, S., Sogawa, Y., Burns, K., Malets, M., Montiel Blanco, J. D., Habela, C. W., Wilson, C. A., Guzmán, G. G. & Pavliuk, M., Dec 12 2022, In: JAMA Neurology. 79, 12, p. 1267-1276 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Testing 100%
  • Epilepsy 81%
  • Clinical Studies 67%
  • Change Management 42%
  • Patient Reported Outcome Measures 21%

• Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome

  Paul, A. M., Mu, W., Butala, A. & Green, K. E., Nov 22 2022, In: Neurology. 99, 21, p. 957-961 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dyskinesias 100%
  • Parkinsonian Disorders 99%
  • Eye Movements 93%
  • Primary Dysautonomias 66%
  • Spinocerebellar Ataxias 61%
• 2021

  Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

  Undiagnosed Diseases Network, Jan 20 2021, In: Science Advances. 7, 4, eabe2116.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ubiquitin 100%
  • Chromatin 66%
  • Histone Deacetylase 2 39%
  • Chromatin Assembly and Disassembly 29%
  • Mutation 27%
  1 Scopus citations

• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

  Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M., Gates, R., & 25 othersGomez-Ospina, N., Ramanathan, S., Clark, R. D., Glaser, K., Benke, P. J., Cohen, J. S., Fatemi, A., Mu, W., Baranano, K. W., Madden, J. A., Gubbels, C. S., Yu, T. W., Agrawal, P. B., Chambers, M. K., Phornphutkul, C., Pugh, J. A., Tauber, K. A., Azova, S., Smith, J. R., O’Donnell-Luria, A., Medsker, H., Srivastava, S., Krakow, D., Schweitzer, D. N. & Arboleda, V. A., Oct 2021, In: Molecular Genetics and Genomic Medicine. 9, 10, e1809.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genitopatellar Syndrome 100%
  • Young Simpson syndrome 99%
  • Lysine Acetyltransferases 81%
  • Photophobia 60%
  • Keratoconus 60%

• Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form

  Mu, W., Heller, T. & Barañano, K. W., Jan 18 2021, In: BMJ case reports. 14, 1, e236732.

  Research output: Contribution to journal › Article › peer-review

  • Pontocerebellar Hypoplasia 100%
  • Siblings 50%
  • Population Biological Variation 34%
  • Exosome Multienzyme Ribonuclease Complex 22%
  • Phenotype 16%
• 2020

  Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing

  Neustadt, A., Owczarzak, J., Mu, W., Cohen, J. S. & Erby, L., Dec 2020, In: Journal of Genetic Counseling. 29, 6, p. 992-1003 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Exome 100%
  • Uncertainty 76%
  • Negative Results 44%
  • Interviews 18%
  • Acclimatization 18%
  1 Scopus citations

• A structured genetics rotation for pediatric residents: an important educational opportunity

  Forsyth, R. L., Mu, W., Gibson, L., Serwint, J. R., Shilkofski, N. & Bodurtha, J., Apr 1 2020, In: Genetics in Medicine. 22, 4, p. 793-796 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pediatrics 100%
  • Pediatricians 81%
  • Internship and Residency 80%
  • Ambulatory Care Facilities 25%
  • Inpatients 20%

• Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

  Nguyen, T. T. M., Murakami, Y., Mobilio, S., Niceta, M., Zampino, G., Philippe, C., Moutton, S., Zaki, M. S., James, K. N., Musaev, D., Mu, W., Baranano, K., Nance, J. R., Rosenfeld, J. A., Braverman, N., Ciolfi, A., Millan, F., Person, R. E., Bruel, A. L., Thauvin-Robinet, C., & 18 othersVerveri, A., DeVile, C., Male, A., Efthymiou, S., Maroofian, R., Houlden, H., Maqbool, S., Rahman, F., Baratang, N. V., Rousseau, J., St-Denis, A., Elrick, M. J., Anselm, I., Rodan, L. H., Tartaglia, M., Gleeson, J., Kinoshita, T. & Campeau, P. M., Apr 2 2020, In: American journal of human genetics. 106, 4, p. 484-495 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • transamidases 100%
  • Muscle Hypotonia 66%
  • Atrophy 47%
  • Epilepsy 46%
  • Glycosylphosphatidylinositol deficiency 11%
  4 Scopus citations

• De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

  Undiagnosed Diseases Network, Aug 6 2020, In: American journal of human genetics. 107, 2, p. 352-363 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Adenosine Triphosphatases 85%
  • Leigh Disease 63%
  • Charcot-Marie-Tooth Disease 57%
  • Spinal Muscular Atrophy 55%
  7 Scopus citations

• Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome

  Lambe, J., Murphy, O. C., Mu, W., Sondergaard Schatz, K., Barañano, K. W. & Venkatesan, A., Feb 1 2020, In: Annals of Clinical and Translational Neurology. 7, 2, p. 254-258 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Phenotype 100%
  • Whole Exome Sequencing 98%
  • Neuroimaging 75%
  • Leukoencephalopathies 55%
  • Brain Diseases 39%
  1 Scopus citations
• 2019

  Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

  Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., Barcina, M. G., Breen, D. P., Chancellor, A. M., Cremer, P. D., Delatycki, M. B., Fogel, B. L., Hackett, A., Halmagyi, G. M., Kapetanovic, S., Lang, A., & 13 othersMossman, S., Mu, W., Patrikios, P., Perlman, S. L., Rosemergy, I., Storey, E., Watson, S. R. D., Wilson, M. A., Zee, D. S., Valle, D., Amor, D. J., Bahlo, M. & Lockhart, P. J., Jul 3 2019, In: American journal of human genetics. 105, 1, p. 151-165 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Bilateral Vestibulopathy 100%
  • Cerebellar Ataxia 76%
  • Computational Biology 57%
  • Genome 31%
  • High-Throughput Nucleotide Sequencing 29%
  45 Scopus citations

• Expansion of the clinical spectrum associated with AARS2-related disorders

  Srivastava, S., Butala, A., Mahida, S., Richter, J., Mu, W., Poretti, A., Vernon, H., VanGerpen, J., Atwal, P. S., Middlebrooks, E. H., Zee, D. S. & Naidu, S. B., Aug 2019, In: American Journal of Medical Genetics, Part A. 179, 8, p. 1556-1564 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Leukoencephalopathies 100%
  • Cognitive Dysfunction 92%
  • Tremor 80%
  • Ataxia 79%
  • Alanine-tRNA Ligase 69%
  7 Scopus citations

• Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders

  Mu, W., Muriello, M., Clemens, J. L., Wang, Y., Smith, C. H., Tran, P. T., Rowe, P. C., Francomano, C. A., Kline, A. D. & Bodurtha, J., Apr 2019, In: American Journal of Medical Genetics, Part A. 179, 4, p. 561-569 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ehlers-Danlos Syndrome 100%
  • Quality of Life 45%
  • Fatigue 35%
  • Child 30%
  • Primary Dysautonomias 20%
  7 Scopus citations

• Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1

  Mu, W., Tochen, L., Bertsch, C., Singer, H. S. & Barañano, K. W., May 1 2019, In: BMJ case reports. 12, 5, e228782.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosome Deletion 100%
  • Movement Disorders 51%
  • Brain 30%
  • Microarray Analysis 15%
  • Single Nucleotide Polymorphism 12%
  5 Scopus citations

• The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population

  Mu, W., Schiess, N., Orthmann-Murphy, J. L. & El-Hattab, A. W., Jan 2 2019, In: Journal of Neurogenetics. 33, 1, p. 21-26 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Whole Exome Sequencing 100%
  • Nervous System Diseases 78%
  • Consanguinity 53%
  • Population 32%
  • Neurology 22%
  4 Scopus citations
• 2018

  Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia

  Mu, W., Cordner, Z. A., Yuqi Wang, K., Reed, K., Robinson, G., Mitchell, S. & Lin, D., Jun 1 2018, In: Genetics in Medicine. 20, 6, p. 639-644 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hereditary Hemorrhagic Telangiectasia 100%
  • Arteriovenous Malformations 82%
  • Mutation 39%
  • Lung 38%
  • Genotype 29%
  6 Scopus citations

• Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine

  Lu, Z. A., Mu, W., Osborne, L. M. & Cordner, Z. A., 2018, In: BMJ case reports. 2018, bcr-2018-225119.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fluoxetine 100%
  • Obsessive-Compulsive Disorder 95%
  • Anorexia 93%
  • Autism Spectrum Disorder 89%
  • Autistic Disorder 86%
  2 Scopus citations

• Pain and sleep quality in children with non-vascular Ehlers–Danlos syndromes

  Muriello, M., Clemens, J. L., Mu, W., Tran, P. T., Rowe, P. C., Smith, C. H., Francomano, C., Bodurtha, J. & Kline, A. D., Sep 2018, In: American Journal of Medical Genetics, Part A. 176, 9, p. 1858-1864 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Sleep 100%
  • Pain 74%
  • Child 55%
  • Connective Tissue 40%
  • National Institute on Aging (U.S.) 34%
  6 Scopus citations
• 2016

  De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

  Ma, L., Bayram, Y., McLaughlin, H. M., Cho, M. T., Krokosky, A., Turner, C. E., Lindstrom, K., Bupp, C. P., Mayberry, K., Mu, W., Bodurtha, J., Weinstein, V., Zadeh, N., Alcaraz, W., Powis, Z., Shao, Y., Scott, D. A., Lewis, A. M., White, J. J., Jhangiani, S. N., & 8 othersGulec, E. Y., Lalani, S. R., Lupski, J. R., Retterer, K., Schnur, R. E., Wentzensen, I. M., Bale, S. & Chung, W. K., Dec 1 2016, In: Human genetics. 135, 12, p. 1399-1409 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Protein Phosphatase 1 100%
  • Intellectual Disability 69%
  • Heart Diseases 59%
  • Megalencephaly 14%
  • Whole Exome Sequencing 12%
  17 Scopus citations

• Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

  Fleming, L., Lemmon, M., Beck, N., Johnson, M., Mu, W., Murdock, D., Bodurtha, J., Hoover-Fong, J., Cohn, R., Bosemani, T., Barañano, K. & Hamosh, A., Jan 1 2016, In: American Journal of Medical Genetics, Part A. 170, 1, p. 77-86 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Muscle Hypotonia 100%
  • Genetic Association Studies 88%
  • Epilepsy 69%
  • Seizures 64%
  • Finger Phalanges 35%
  26 Scopus citations

• Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report

  Adashek, J., Mu, W., Francis, J., Cohen, B., Pruette, C., Grossberg, A. & Bodurtha, J., Sep 1 2016, In: Pediatric Dermatology. 33, 5, p. e315-e317

  Research output: Contribution to journal › Article › peer-review

  • Incontinentia Pigmenti 100%
  • Hypercalcemia 70%
  • Nails 21%
  • Hair 20%
  • Central Nervous System 15%
  2 Scopus citations
• 2015

  An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis

  Diehl, A., Mu, W., Batista, D. & Gunay-Aygun, M., Jul 1 2015, In: American Journal of Medical Genetics, Part A. 167, 7, p. 1644-1649 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Radioulnar Synostosis 100%
  • Genomic Segmental Duplications 85%
  • Thumb 64%
  • Missense Mutation 58%
  • DiGeorge Syndrome 44%
  6 Scopus citations