V. Kimonis

M. Passos-Bueno, R. Nitrini, V. Kimonis, 2011, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes

A. Pestronk, V. Kimonis, G. Watts, 2003, Neuromuscular Disorders.

A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6

K. Palczewski, V. Kimonis, A. Koskelainen, 2021, The Journal of Pharmacology and Experimental Therapeutics.

Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice

V. Kimonis, J. Weiss, T. Mozaffar, 2012, Cell Death and Disease.

Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease.

V. Kimonis, E. Monuki, A. Nalbandian, 2015, Human gene therapy methods.

Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

V. Kimonis, D. Gelber, R. Khardori, 2002, American journal of medical genetics.

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome

S. Mehta, S. Bale, V. Kimonis, 2004, Genetics in Medicine.

Genetics of Obesity in Humans: A Clinical Review

V. Kimonis, M. Butler, R. Mahmoud, 2022, International journal of molecular sciences.

Phenotypic diversity of patients diagnosed with VACTERL association

V. Kimonis, B. Solomon, B. Lemieux, 2018, American journal of medical genetics. Part A.

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.

J. Uitto, V. Kimonis, L. Pulkkinen, 1997, Human molecular genetics.

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

S. Bale, V. Kimonis, Jun-Mo Yang, 1994, The Journal of investigative dermatology.

Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study

V. Kimonis, V. Caiozzo, S. Radom-Aizik, 2022, Neuromuscular Disorders.

Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome

D. J. Driscoll, V. Kimonis, M. Butler, 2020, Genes.

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype

Joshua L. Deignan, J. Ringman, V. Kimonis, 2019, Neuroscience Letters.

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

A. Lakatos, V. Kimonis, D. Bali, 2019, Annals of translational medicine.

A placebo-controlled trial of folic acid and betaine in identical twins with syndrome.

S. Waisbren, L. Bird, V. Kimonis, 2019 .

Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors.

V. Kimonis, R. E. Jonas, 2001, American journal of medical genetics.

Oxytocin treatment in children with Prader–Willi syndrome: A double‐blind, placebo‐controlled, crossover study

D. J. Driscoll, V. Kimonis, M. Butler, 2017, American journal of medical genetics. Part A.

An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses

V. Kimonis, A. Lin, Kathryn E. Singh, 2011, American journal of medical genetics. Part A.

Muenke Syndrome ( FGFR 3-Related Craniosynostosis ) : Expansion of the Phenotype and Review of the Literature

E. Zackai, C. Brewer, B. Solomon, 2007 .

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

V. Kimonis, M. Tang, J. Gargus, 2020, Molecular genetics and metabolism reports.

Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion

V. Kimonis, A. Naidu, Hiba Risheg, 2017, Journal of clinical research in pediatric endocrinology.

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

S. Nelson, V. Kimonis, P. Sanchez-Lara, 2021, Journal of Medical Genetics.

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

D. J. Driscoll, V. Kimonis, M. Butler, 2018, Journal of Medical Genetics.

Progressive cavitating leukoencephalopathy: A novel childhood disease

H. Moser, S. Dimauro, A. Hamosh, 2005, Annals of neurology.

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.

V. Kimonis, Moyra J. Smith, K. Osann, 2019, Mitochondrion.

Differential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader–Willi Syndrome

E. Hoffman, D. Wallace, V. Kimonis, 2013, Clinical and translational science.

Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader–Willi Syndrome

D. Wallace, V. Kimonis, P. G. Yazdi, 2013 .

Birth seasonality studies in a large Prader–Willi syndrome cohort

D. J. Driscoll, V. Kimonis, M. Butler, 2019, American journal of medical genetics. Part A.

Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice

S. Wells, E. Hatchwell, J. Cleak, 2022, Orphanet Journal of Rare Diseases.

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica

V. Kimonis, J. Balk, Andrew E. Maclean, 2018, bioRxiv.

Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report

V. Kimonis, Sha Tang, L. Hasadsri, 2019, Clinical Neurology and Neurosurgery.

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

V. Kimonis, E. McCabe, W. Kulik, 2013, JIMD reports.

ALX4 gain‐of‐function mutations in nonsyndromic craniosynostosis

J. Stoler, V. Kimonis, M. Cunningham, 2012, Human mutation.

Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene

V. Kimonis, Taosheng Huang, J. Whang, 2006, Genetics in Medicine.

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

D. J. Driscoll, V. Kimonis, M. Butler, 2018, Journal of Medical Genetics.

Polycystic kidney disease complicates renal pathology in a family with Fabry disease

V. Kimonis, M. Pahl, D. Lombardo, 2022, Molecular genetics and metabolism reports.

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.

V. Kimonis, W. Lau, K. Hall, 2020, The American journal of the medical sciences.

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

Kousseff syndrome caused by deletion of chromosome 22q11-13.

V. Kimonis, S. Forrester, M. J. Kovach, 2002, American journal of medical genetics.

Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants.

V. Kimonis, P. Abbona, Stephani C Wang, 2022, European journal of medical genetics.

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32

D. Ledbetter, C. Martin, K. Millen, 2003, European Journal of Human Genetics.

Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities

D. J. Driscoll, V. Kimonis, M. Butler, 2019, Genes.

Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis.

J. Troendle, W. Gahl, T. Markello, 1995, The Journal of clinical endocrinology and metabolism.

What Syndrome Is This?

V. Kimonis, Caroline C. Kim, M. Liang, 2007, Pediatric dermatology.

Peters Anomaly in Association with Multiple Midline Anomalies and a Familial Chromosome 4 Inversion

V. Kimonis, E. Neilan, Y. Pikman, 2006, Ophthalmic genetics.

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

V. Kimonis, Hanns Lochmüller, C. Weihl, 2016, Neuromuscular Disorders.

Genetics of hearing loss: where are we standing now?

H. Djalilian, V. Kimonis, H. Mahboubi, 2012, European Archives of Oto-Rhino-Laryngology.

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

V. Schramm, S. Mehta, J. Martignetti, 2012, American journal of human genetics.

Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion

B. Chung, B. Fernandez, R. Weksberg, 2013, American journal of medical genetics. Part A.

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

A. Pestronk, S. Mehta, V. Kimonis, 2004, Nature Genetics.

Rapamycin and Chloroquine: The In Vitro and In Vivo Effects of Autophagy-Modifying Drugs Show Promising Results in Valosin Containing Protein Multisystem Proteinopathy

V. Kimonis, P. G. Yazdi, A. Nalbandian, 2015, PloS one.

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri‐du‐chat syndrome in addition to a partial duplication of CTNND2

V. Kimonis, R. Owen, Kathryn E. Singh, 2014, American journal of medical genetics. Part A.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012, Nature Genetics.

A genome wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP 2 and within BBS 9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012 .

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

L. Shaffer, J. Lupski, W. Meschino, 2000, Nature Genetics.

Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement

F. Alkuraya, V. Kimonis, A. Lin, 2005, American journal of medical genetics. Part A.

Disease-Specific Induced Pluripotent Stem Cell Modeling: Insights into the Pathophysiology of Valosin Containing Protein (VCP) Disease

V. Kimonis, H. Keirstead, A. Nalbandian, 2014 .

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

V. Kimonis, A. Roberts, A. Lamb, 2004, American journal of medical genetics. Part A.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Michael Benatar, Steven A Greenberg, Aaron D Gitler, 2013, Nature.

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

D. Wallace, V. Kimonis, V. Procaccio, 2011, Neuroscience Letters.

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

S. Leal, V. Kimonis, D. Gelber, 2000, Genetics in Medicine.

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

P. Donahoe, L. Holmes, C. Lee, 2006, American journal of medical genetics. Part A.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness

Richard L Robertson, Fowzan S Alkuraya, Cynthia C Morton, 2009, American journal of medical genetics. Part A.

Frequency of Births Due to Assisted Reproductive Technology (ART) in Prader-Willi Syndrome

D. J. Driscoll, Hye-Seung Lee, V. Kimonis, 2013, Genetics in Medicine.

Frequency of Prader–Willi syndrome in births conceived via assisted reproductive technology

D. J. Driscoll, Hye-Seung Lee, V. Kimonis, 2013, Genetics in Medicine.

Contributing factors of mortality in Prader–Willi syndrome

V. Kimonis, D. Stevenson, M. Butler, 2019, American journal of medical genetics. Part A.

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

V. Kimonis, K. Osann, P. Flodman, 2013, Genetics in Medicine.

Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

E. Zackai, C. Brewer, B. Solomon, 2007, American journal of medical genetics. Part A.

Duplication of 5q15-q23.2: case report and literature review.

V. Kimonis, P. Hawley, M. Shaham, 2006, Birth defects research. Part A, Clinical and molecular teratology.

Nuclear localization of valosin‐containing protein in normal muscle and muscle affected by inclusion‐body myositis

S. Greenberg, V. Kimonis, A. Amato, 2007, Muscle & nerve.

Diagnostic utility of array‐based comparative genomic hybridization in a clinical setting

V. Kimonis, H. Baris, W. Tan, 2007, American journal of medical genetics. Part A.

Mild phenotype due to tandem duplication of l7p11.2.

V. Kimonis, M. Schneider, S. Forrester, 2000, American journal of medical genetics.

Prader–Willi syndrome and early‐onset morbid obesity NIH rare disease consortium: A review of natural history study

D. J. Driscoll, V. Kimonis, M. Butler, 2018, American journal of medical genetics. Part A.

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3)

V. Kimonis, M. Butler, Vy Dang, 2016, Cytogenetic and Genome Research.

Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.

D. J. Driscoll, V. Kimonis, M. Butler, 2012, Genetic testing and molecular biomarkers.

Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy

Ruchi Srivastava, Arif A. Khan, L. BenMohamed, 2016, Inflammation.

Description of a case of distal 2p trisomy by array‐based comparative genomic hybridization: A high resolution genome‐wide investigation for chromosomal aneuploidy in a single assay

M. Listewnik, J. Mulliken, C. Morton, 2004, American Journal of Medical Genetics. Part A.

Multisystem proteinopathy: Where myopathy and motor neuron disease converge

V. Kimonis, T. Mozaffar, M. Korb, 2020, Muscle & nerve.

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

L. Hughes, V. Kimonis, D. Gelber, 2002, American journal of medical genetics.

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

E. Jabs, V. Kimonis, D. Gelber, 1999, American journal of human genetics.

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

L. Shaffer, B. Ballif, B. Bejjani, 2006, American journal of medical genetics. Part A.

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

E. Roeder, Ankita Patel, S. Cheung, 2015, BMC Medical Genetics.

Global Gene Profiling of VCP‐associated Inclusion Body Myopathy

Charles D. Smith, E. Hoffman, V. Kimonis, 2012, Clinical and translational science.

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

Rune R. Frants, Peter J. Donovan, Xiangduo Kong, 2009, PLoS genetics.

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Mark A. Levenstien, S. Leal, A. Pestronk, 2001, Molecular genetics and metabolism.

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

J. Mulliken, D. Levine, F. Quintero-Rivera, 2006, Prenatal diagnosis.

Genetic heterogeneity in autosomal dominant essential tremor

R. Elble, V. Kimonis, C. Higgins, 2001, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel valosin-containing protein mutations associated with multisystem proteinopathy

H. Yoshioka, M. Grafe, A. Lakatos, 2018, Neuromuscular Disorders.

Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy

S. Mehta, V. Kimonis, S. Mumm, 2006, American journal of medical genetics. Part A.

Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies.

V. Kimonis, A. Morales, R. E. Jonas, 1997, American journal of medical genetics.

The Influence of Diet and Exercise on the Physical Health of Affected Individuals with VCP Disease

V. Kimonis, Abhilasha Surampalli, M. Khare, 2014 .

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

A. Pestronk, P. Hanson, M. Forman, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Double‐blind therapeutic trial in Angelman syndrome using betaine and folic acid

A. Beaudet, S. Waisbren, L. Bird, 2010, American journal of medical genetics. Part A.

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

V. Kimonis, N. Reynolds, S. Forrester, 2001, American journal of medical genetics.

Mutation in PQBP1 is associated with periventricular heterotopia

V. Kimonis, A. Torres, V. Sheen, 2010, American journal of medical genetics. Part A.

Novel Ubiquitin Neuropathology in Frontotemporal Dementia With Valosin-Containing Protein Gene Mutations

Charles D. Smith, J. Karlawish, A. Pestronk, 2006, Journal of neuropathology and experimental neurology.

Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader–Willi Syndrome

D. J. Driscoll, V. Kimonis, M. Butler, 2022, Journal of clinical medicine.

Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index

V. Kimonis, M. Butler, S. Cassidy, 2019, American journal of medical genetics. Part A.

Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment

D. J. Driscoll, V. Kimonis, M. Butler, 2016, Clinical pediatrics.

Growth Standards of Infants With Prader-Willi Syndrome

D. J. Driscoll, V. Kimonis, M. Butler, 2011, Pediatrics.

Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome

V. Kimonis, John Billimek, A. Pontello, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

B. Asselbergh, V. Kimonis, V. Mouly, 2023, Autophagy.

A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for “ring chromosome 2 syndrome”

F. Alkuraya, V. Kimonis, Laura Holt, 2005, American journal of medical genetics. Part A.

Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome

V. Kimonis, S. Cassidy, J. Gold, 2018, American journal of medical genetics. Part A.

Two cases of Legg–Perthes and intellectual disability in Tricho–Rhino–Phalangeal syndrome type 1 associated with novel TRPS1 mutations

V. Kimonis, Kathryn E. Singh, R. Lebel, 2017, American journal of medical genetics. Part A.

Clinical Trials in Prader–Willi Syndrome: A Review

V. Kimonis, M. Butler, R. Mahmoud, 2023, International journal of molecular sciences.

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Charles D. Smith, D. Wallace, V. Kimonis, 2015, Journal of Genetic Counseling.

Subglossopalatal Synechia in Association with Cardiac and Digital Anomalies

J. Thakuria, J. Mulliken, V. Kimonis, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

V. Kimonis, J. Gold, Abhilasha Surampalli, 2019, PloS one.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

C. Wanner, V. Kimonis, D. Warnock, 2022, Molecular genetics and metabolism reports.

Title Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the e 1 α subunit gene ( PDHA 1 )

A. Hasso, J. Gargus, V. Kimonis, 2014 .

Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele

V. Kimonis, K. Kompoliti, Alana E. Kirby, 2021, Neurology: Genetics.

Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis

V. Kimonis, H. Baris, H. Levy, 2005, Journal of child neurology.

Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1)

A. Hasso, J. Gargus, V. Kimonis, 2013, Neuropediatrics.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Y. Chien, V. Kimonis, N. Leslie, 2019, Human mutation.

A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy

L. BenMohamed, V. Kimonis, A. Nalbandian, 2015, PloS one.

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

F. Quintero-Rivera, V. Kimonis, M. Weiss, 2023, Genes.

A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature.

V. Kimonis, I. Lott, Apiradee Lim, 2021, European Journal of Medical Genetics.

Expression level of R155H mRNA in the knock-in mouse model.

V. Kimonis, Lan Weiss, Cheng Cheng, 2020, Biochemical and Biophysical Research Communications - BBRC.

Valosin-containing protein mutation and Parkinson's disease.

J. Bronstein, V. Kimonis, P. Shieh, 2012, Parkinsonism & related disorders.

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

V. Kimonis, M. Milone, T. Stojkovic, 2023, Annals of clinical and translational neurology.

Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy

V. Kimonis, K. Hurth, Christina M Laukaitis, 2023, Neurology: Genetics.

Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype.

R. Castellani, V. Kimonis, R. Kim, 2015, Alzheimer disease and associated disorders.

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

W. Seeley, A. Al-Chalabi, A. Obenaus, 2022, Orphanet Journal of Rare Diseases.

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

D. J. Driscoll, V. Kimonis, M. Butler, 2009, Journal of Assisted Reproduction and Genetics.

Stroke and Chronic Kidney Disease in Fabry Disease.

V. Kimonis, D. Tapia, 2020, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report.

E. W. Lloyd, V. Kimonis, S. Mumm, 2020, JBJS case connector.

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

S. Mehta, Chengfeng Zhao, V. Kimonis, 2005, Human Genetics.

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)

Charles D. Smith, S. Mehta, M. Hutton, 2007, Genetics in Medicine.

Autosomal Dominant Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

V. Kimonis, Virginia E Kimonis, Giles D J Watts, 2005, Alzheimer disease and associated disorders.

A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester.

V. Kimonis, Meredith Jones, J. Chung, 2017, Clinical Dysmorphology.

Humoral Immune Deficiency and Hemifacial Microsomia Seen in One Family

J. Mulliken, V. Kimonis, F. Bonilla, 2009, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Sitao Wu, E. Hatchwell, A. Hasso, 2020, Journal of Medical Genetics.

Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.

D. J. Driscoll, Hye-Seung Lee, W. Kaufmann, 2021, Pediatric neurology.

Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study

D. J. Driscoll, V. Kimonis, M. Butler, 2021, Clinical genetics.

Growth Charts for Non-Growth Hormone Treated Prader-Willi Syndrome

Daniel J Driscoll, D. J. Driscoll, Jaehoon Lee, 2015, Pediatrics.

Squamous cell carcinoma in a child with Clericuzio‐type poikiloderma with neutropenia

C. Ponting, N. Sebire, L. Sánchez-Pulido, 2013, The British journal of dermatology.

Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families

V. Kimonis, Jing-Ping Lin, A. Avakian, 2000, Genetics in Medicine.

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

S. Waisbren, L. Bird, V. Kimonis, 2019, Orphanet journal of rare diseases.

Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy

Ruchi Srivastava, Arif A. Khan, L. BenMohamed, 2017, Inflammation.

Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: How many are we missing?

F. Alkuraya, V. Kimonis, C. L. Martin, 2006, Prenatal diagnosis.

Immunoglobulin deficiency in Stickler syndrome

V. Kimonis, J. Cox, P. Kelly, 2006 .

VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy

K. Palczewski, V. Kimonis, J. Weiss, 2022, Journal of translational medicine.

Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery

Vanessa M. Scarfone, V. Kimonis, A. Nalbandian, 2017, PloS one.

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Charles D. Smith, Hon J. Yu, R. Castellani, 2015, Neuromuscular Disorders.

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

S. Mehta, L. Hocking, S. Ralston, 2006, Bone.

A further case of coincidental Prader–Willi and Klinefelter syndromes

V. Kimonis, S. Forrester, Michaela Schneider, 2004, American journal of medical genetics. Part A.

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy

A. Lakatos, V. Kimonis, M. Pahl, 2020, Molecular genetics and metabolism reports.

Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis

Adam L. Maclean, S. Harper, J. Jaiswal, 2023, Science advances.

Cockayne syndrome: The developing phenotype

C. Robson, V. Kimonis, H. Baris, 2005, American journal of medical genetics. Part A.

A Natural History Study of VCP Associated Vacuolar Myopathy in a Patient with the Common R155H Mutation

V. Kimonis, M. Nguyen, J. Plewa, 2020, Clinical and Experimental Investigations.

The beauty and complexity of the small heat shock proteins: a report on the proceedings of the fourth workshop on small heat shock proteins.

H. Taguchi, W. Lau, R. Klevit, 2023, Cell stress & chaperones.

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

F. Alkuraya, V. Kimonis, J. Picker, 2005, Birth defects research. Part A, Clinical and molecular teratology.

Temtamy‐like syndrome associated with translocation of 2p24 and 9q32

V. Kimonis, Michael C. Schneider, A. Talisetti, 2003, Clinical dysmorphology.

Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis

Adam L. Maclean, S. Harper, J. Jaiswal, 2023, bioRxiv.

Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy

V. Kimonis, Victoria Boock, Bhaskar Roy, 2023, Current opinion in neurology.

Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study

V. Kimonis, V. Caiozzo, S. Radom-Aizik, 2021, Neuromuscular Disorders.

Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis

Adam L. Maclean, S. Harper, J. Jaiswal, 2023, Science advances.

ALG11‐CDG syndrome: Expanding the phenotype

H. Freeze, V. Kimonis, N. Gallant, 2019, American Journal of Medical Genetics. Part A.

Mild fumarase deficiency and a trial of low protein diet.

V. Kimonis, J. Shoemaker, D. Grange, 2012, Molecular genetics and metabolism.

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

V. Kimonis, Hanns Lochmüller, C. Weihl, 2016, Neuromuscular Disorders.

Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease.

V. Kimonis, E. Monuki, A. Nalbandian, 2015, Human gene therapy methods.

Mutation in PQBP1 is associated with periventricular heterotopia

V. Kimonis, A. Torres, V. Sheen, 2010, American journal of medical genetics. Part A.

Global Gene Expression Profiling in R155H Knock‐In Murine Model of VCP Disease

E. Hoffman, V. Kimonis, J. Vesa, 2015, Clinical and translational science.

Effects of enzyme replacement therapy on bone density in late onset Pompe disease.

V. Kimonis, T. Mozaffar, M. Avanti, 2023, Molecular genetics and metabolism.

A multicenter study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

D. J. Driscoll, V. Kimonis, M. Butler, 2018 .