Virginia E Kimonis (Virginia Kimonis, V Kimonis)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 40

Top Venues

American journal of medical genetics. Part A

Muscle & nerve

Genes

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Tiffany Schmok, Abhilasha Surampalli, Manaswitha Khare, Setarah Zandihaghighi, Rounak Baghbaninogourani, Brinda Patolia, June-Anne Gold, Ajanta Naidu, Suzanne B Cassidy, Virginia E Kimonis
Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome. American journal of medical genetics. Part A (2024)
Rod Carlo Agram Columbres, Vu Luu, Minh Nguyen, Virginia E Kimonis
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry. Muscle & nerve 69 (6) (2024)
Rod Carlo Agram Columbres, Vu Luu, Minh Nguyen, Virginia E Kimonis
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry. Muscle & nerve 69 (6) (2024)
Rod Carlo Agram Columbres, Vu Luu, Minh Nguyen, Virginia E Kimonis
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry. Muscle & nerve (2024)
Rod Carlo Agram Columbres, Vu Luu, Minh Nguyen, Virginia E Kimonis
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry. Muscle & nerve 69 (6) (2024)
Rod Carlo Agram Columbres, Vu Luu, Minh Nguyen, Virginia E Kimonis
Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry. Muscle & nerve 69 (6) (2024)
Ranim Mahmoud, Virginia E Kimonis, Merlin G Butler
Clinical Trials in Prader-Willi Syndrome: A Review. International journal of molecular sciences 24 (3) (2023)
Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S Goodwill, Alicia Cuber, Regina Im, Donald P Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia E Kimonis
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy. Neurology. Genetics 9 (1) (2023)
Ranim Mahmoud, Virginia E Kimonis, Merlin G Butler
Clinical Trials in Prader-Willi Syndrome: A Review. International journal of molecular sciences 24 (3) (2023)
Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S Goodwill, Alicia Cuber, Regina Im, Donald P Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia E Kimonis
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy. Neurology. Genetics 9 (1) (2023)
Rod Carlo Agram Columbres, Yue Chin, Sanjana Pratti, Colin Quinn, Luis Francisco Gonzalez-Cuyar, Michael D Weiss, Fabiola Quintero-Rivera, Virginia E Kimonis
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. Genes 14 (3) (2023)
Rod Carlo Agram Columbres, Yue Chin, Sanjana Pratti, Colin Quinn, Luis Francisco Gonzalez-Cuyar, Michael D Weiss, Fabiola Quintero-Rivera, Virginia E Kimonis
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. Genes 14 (3) (2023)
Gérald Coulis, Diego Jaime, Christian F Guerrero-Juarez, Jenna M Kastenschmidt, Philip K Farahat, Quy Nguyen, Nicholas Pervolarakis, Katherine McLinden, Lauren Thurlow, Saba Movahedi, Brandon S Hughes, Jorge Duarte, Andrew M Sorn, Elizabeth Montoya, Izza Mozaffar, Morgan A Dragan, Shivashankar Othy, Trupti Joshi, Chetan P Hans, Virginia E Kimonis, Adam L MacLean, Qing Nie, Lindsay M Wallace, Scott Q Harper, Tahseen Mozaffar, Marshall W Hogarth, Surajit Bhattacharya, Jyoti K Jaiswal, David R Golann, Qi Su, Kai Kessenbrock, Michael J Stec, Melissa J Spencer, Jesse R Zamudio, S Armando Villalta
Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis. Science advances 9 (27) (2023)
Rod Carlo Agram Columbres, Yue Chin, Sanjana Pratti, Colin Quinn, Luis Francisco Gonzalez-Cuyar, Michael D Weiss, Fabiola Quintero-Rivera, Virginia E Kimonis
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. Genes 14 (3) (2023)
Ranim Mahmoud, Virginia E Kimonis, Merlin G Butler
Clinical Trials in Prader-Willi Syndrome: A Review. International journal of molecular sciences 24 (3) (2023)
Cheng Cheng, Lan Weiss, Henri Leinonen, Alyaa Shmara, Hong Z Yin, Timothy Ton, Annie Do, Jonathan Lee, Lac Ta, Eshanee Mohanty, Jesse Vargas, John Weiss, Krzysztof Palczewski, Virginia E Kimonis
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy. Journal of translational medicine 20 (1) (2022)
Cheng Cheng, James Cleak, Lan Weiss, Heather Cater, Michelle Stewart, Sara Wells, Rod Carlo Columbres, Alyaa Shmara, C Alejandra Morato Torres, Faria Zafar, Birgitt Schüle, Jonathan Neumann, Eli Hatchwell, Virginia E Kimonis
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice. Orphanet journal of rare diseases 17 (1) (2022)
Ranim Mahmoud, Heidi D Swanson, Merlin G Butler, Pamela Flodman, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Kathryn Osann, Elisabeth Dykens, Daniel J Driscoll, Virginia E Kimonis
Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi Syndrome. Journal of clinical medicine 11 (9) (2022)
Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith, Virginia E Kimonis
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy. Orphanet journal of rare diseases 17 (1) (2022)
Ranim Mahmoud, Virginia E Kimonis, Merlin G Butler
Genetics of Obesity in Humans: A Clinical Review. International journal of molecular sciences 23 (19) (2022)
Alana E Kirby, Virginia E Kimonis, Katie Kompoliti
Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele. Neurology. Genetics 7 (4) (2021)
Ranim Mahmoud, Anna Leonenko, Merlin G Butler, Pamela Flodman, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Elisabeth Dykens, Daniel J Driscoll, Virginia E Kimonis
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study. Clinical genetics 100 (1) (2021)
Andrea S Montes, Kathryn E Osann, June Anne Gold, Roy N Tamura, Daniel J Driscoll, Merlin G Butler, Virginia E Kimonis
Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. Genes 11 (11) (2020)
Virginia E Kimonis, Rehab Al Dubaisi, Andrew E Maclean, Kathy Hall, Lan Weiss, Alexander E Stover, Philip H Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair Rene Conner, Sitao Wu, Anton N Hasso, Daryl A Scott, Mary Kay Koenig, Rachid Karam, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S Eis
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Journal of medical genetics 58 (5) (2020)
Leah Ke'ala'aumoe Dowsett, Antonio R Porras, Paul S Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta Mohan Girisha, Anju Shukla, Shalini S Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Rao Phadke, Nirmala D Sirisena, Vajira H W Dissanayake, Carlos R Ferreira, Monisha S Kisling, Pranoot Tanpaiboon, Annette Uwineza, Leon Mutesa, Cedrik Tekendo-Ngongang, Ambroise Wonkam, Karen Fieggen, Leticia Cassimiro Batista, Danilo Moretti-Ferreira, Roger E Stevenson, Eloise J Prijoles, David B Everman, Kate Clarkson, Jessica Worthington, Virginia E Kimonis, Fuki Hisama, Carol Crowe, Paul Wong, Kisha Johnson, Robin D Clark, Lynne Bird, Diane Masser-Frye, Marie McDonald, Patrick Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane-Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit Shalev, Victoria Siu, Ann Ades, Holly Dubbs, Sarah Raible, Maninder Kaur, Emanuela Salzano, Laird Jackson, Matthew Deardorff, Antonie D Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D Krantz
Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A 179 (2) (2019)
Jeannine Oldzej, Javeria Manazir, June-Anne Gold, Ranim Mahmoud, Kathryn Osann, Pamela Flodman, Suzanne B Cassidy, Virginia E Kimonis
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. American journal of medical genetics. Part A 182 (1) (2019)
Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A Bacino, Sarika U Peters, Lynne M Bird, Virginia E Kimonis
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet journal of rare diseases 14 (1) (2019)
Merlin G Butler, Virginia E Kimonis, Elisabeth Dykens, June Anne Gold, Roy Tamura, Jennifer L Miller, Daniel J Driscoll
Birth seasonality studies in a large Prader-Willi syndrome cohort. American journal of medical genetics. Part A 179 (8) (2019)
Virginia E Kimonis, Roy Tamura, June-Anne Gold, Nidhi Patel, Abhilasha Surampalli, Javeria Manazir, Jennifer L Miller, Elizabeth Roof, Elisabeth Dykens, Merlin G Butler, Daniel J Driscoll
Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities. Genes 10 (11) (2019)
Richard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, Steven A Moore, David San Leon Granado, Katherine Johnson, Ana Topf, Volker Straub, Teresinha Evangelista, Tahseen Mozaffar, Virginia E Kimonis, Natalie D Shaw, Rita Selvatici, Alessandra Ferlini, Nicol Voermans, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Meindert Lamers, Silvère M van der Maarel
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. Journal of medical genetics 56 (10) (2019)
Maria K Haanpää, Bobby George Ng, Natalie M Gallant, Kathryn E Singh, Candida Brown, Virginia E Kimonis, Hudson H Freeze, Eric A Muller
ALG11-CDG syndrome: Expanding the phenotype. American journal of medical genetics. Part A 179 (3) (2019)
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia E Kimonis
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. American journal of medical genetics. Part A 176 (5) (2019)
Sejad Al-Tahan, Lan Weiss, Howard Yu, Sha Tang, Mario Saporta, Anna Vihola, Tahseen Mozaffar, Bjarne Udd, Virginia E Kimonis
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. Neurology. Genetics 5 (4) (2019)
Merlin G Butler, Naomi A Matthews, Nidhi Patel, Abhilasha Surampalli, June-Anne Gold, Manaswitha Khare, Travis Thompson, Suzanne B Cassidy, Virginia E Kimonis
Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index. American journal of medical genetics. Part A 179 (9) (2019)
Jennifer Proffitt, Kathryn Osann, Barbara McManus, Virginia E Kimonis, Janalee Heinemann, Merlin G Butler, David A Stevenson, June-Anne Gold
Contributing factors of mortality in Prader-Willi syndrome. American journal of medical genetics. Part A 179 (2) (2018)
Preeti Singh, Ranim Mahmoud, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Roy Tamura, Elisabeth Dykens, Merlin G Butler, Dan J Driscoll, Virginia E Kimonis
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. Journal of medical genetics 55 (9) (2018)
Majid Husain, Marina Dutra-Clarke, Bryan Lemieux, Marie Wencel, Benjamin D Solomon, Virginia E Kimonis
Phenotypic diversity of patients diagnosed with VACTERL association. American journal of medical genetics. Part A 176 (9) (2018)
E Al-Obeidi, S Al-Tahan, A Surampalli, N Goyal, A K Wang, A Hermann, M Omizo, C Smith, T Mozaffar, Virginia E Kimonis
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. Clinical genetics 93 (1) (2018)
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia E Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. Journal of medical genetics 56 (3) (2018)
Ranim Mahmoud, Preeti Singh, Lan Weiss, Anita Lakatos, Melanie Oakes, Waheeda Hossain, Merlin G Butler, Virginia E Kimonis
Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes. American journal of medical genetics. Part A 179 (1) (2018)

Virginia E Kimonis.css-eqlu8i{font-size:small;padding-left:4px;} (Virginia Kimonis, V Kimonis)

Publication Activity (10 Years)

Top Topics

Top Venues

Virginia E Kimonis (Virginia Kimonis, V Kimonis)