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J. Marshall · SciRah

Researcher profile · Semantic Scholar

J. Marshall

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J. Marshall — researcher profile on SciRah

h-index: 31
Works: 88
Citations: 3,788

Most-cited papers

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
G. B. Collin, J. Marshall, Akihiro Ikeda, W. So +8 more
2002Nature Genetics402 citations
Semantic Scholar
New Alström syndrome phenotypes based on the evaluation of 182 cases.
J. Marshall, R. Bronson, G. B. Collin, Anne Nordstrom +16 more
2005Archives of Internal Medicine323 citations
Semantic Scholar
Alström Syndrome
J. Marshall, S. Beck, P. Maffei, J. Naggert
2007European Journal of Human Genetics296 citations Open access
Semantic Scholar
Alström Syndrome: Genetics and Clinical Overview
J. Marshall, P. Maffei, G. B. Collin, J. Naggert
2011Current Genomics266 citations Open access
Semantic Scholar
Alms1-disrupted mice recapitulate human Alström syndrome.
G. B. Collin, E. Cyr, R. Bronson, J. Marshall +7 more
2005Human Molecular Genetics187 citations Open access
Semantic Scholar
Spectrum of ALMS1 variants and evaluation of genotype‐phenotype correlations in Alström syndrome
J. Marshall, Elizabeth G. Hinman, G. B. Collin, S. Beck +13 more
2007Human Mutation162 citations Open access
Semantic Scholar
Transgenic T cell receptor interactions in the lymphoproliferative and autoimmune syndromes of lpr and gld mutant mice
C. Sidman, J. Marshall, H. von Boehmer
1992European Journal of Immunology140 citations
Semantic Scholar
Alström Syndrome: Mutation spectrum of ALMS1
J. Marshall, Jean Muller, G. B. Collin, G. Milan +9 more
2015Human Mutation138 citations Open access
Semantic Scholar
Differences defined by bone marrow transplantation suggest that lpr and gld are mutations of genes encoding an interacting pair of molecules
Ruth D. Allen, J. Marshall, J. Roths, C. Sidman
1990Journal of Experimental Medicine124 citations Open access
Semantic Scholar
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.
J. Marshall, M. Ludman, S. Shea, S. Salisbury +3 more
1997American journal of medical genetics89 citations
Semantic Scholar
Spontaneous Pneumocystis carinii pneumonia in immunodeficient mutant scid mice. Natural history and pathobiology.
J. Roths, J. Marshall, Ruth D. Allen, G. Carlson +1 more
1990American Journal of Pathology83 citations
Semantic Scholar
The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway
G. B. Collin, J. Marshall, B. King, G. Milan +3 more
2012PLoS ONE82 citations Open access
Semantic Scholar
Homozygosity mapping at Alström syndrome to chromosome 2p.
G. B. Collin, J. Marshall, L. Cardon, P. Nishina
1997Human Molecular Genetics81 citations
Semantic Scholar
GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1GT/GT, a Mouse Model for Obesity and Insulin Resistance
F. Favaretto, G. Milan, G. B. Collin, J. Marshall +4 more
2014PLoS ONE77 citations Open access
Semantic Scholar
ALMS1-Deficient Fibroblasts Over-Express Extra-Cellular Matrix Components, Display Cell Cycle Delay and Are Resistant to Apoptosis
E. Zulato, F. Favaretto, C. Veronese, S. Campanaro +13 more
2011PLoS ONE69 citations Open access
Semantic Scholar
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls
Joan C. Han, Daniela P. Reyes-Capó, Chia-Ying Liu, J. Reynolds +8 more
2018Journal of Clinical Endocrinology and Metabolism55 citations Open access
Semantic Scholar
The phenotypic and molecular genetic spectrum of Alström Syndrome in 44 Turkish kindreds and a literature review of Alström Syndrome in Turkey
Ayşegül Ozantürk, J. Marshall, G. B. Collin, S. Duzenli +24 more
2014Journal of Human Genetics55 citations Open access
Semantic Scholar
The AXB and BXA set of recombinant inbred mouse strains
J. Marshall, J. Mu, Y. Cheah, M. Nesbitt +2 more
2004Mammalian Genome53 citations
Semantic Scholar
Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases
R. Paisey, Catherine M. Carey, L. Bower, J. Marshall +3 more
2004Clinical Endocrinology50 citations
Semantic Scholar
Influence of sex and diet on quantitative trait loci for HDL cholesterol levels in an SM/J by NZB/BlNJ intercross population Published, JLR Papers in Press, March 1, 2004. DOI 10.1194/jlr.M300460-JLR200
R. Korstanje, Ren-Hua Li, Timothy Howard, P. Kelmenson +3 more
2004Journal of Lipid Research50 citations Open access
Semantic Scholar
Alström syndrome: further evidence for linkage to human chromosome 2p13
G. B. Collin, J. Marshall, C. Boerkoel, A. Levin +5 more
1999Human Genetics43 citations
Semantic Scholar
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients
A. Brofferio, V. Sachdev, H. Hannoush, J. Marshall +9 more
2017Molecular Genetics and Metabolism41 citations Open access
Semantic Scholar
Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome
Inés Pereiro, B. Hoskins, J. Marshall, G. B. Collin +6 more
2011European Journal of Human Genetics41 citations Open access
Semantic Scholar
Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
Eva Malm, V. Ponjavic, P. Nishina, J. Naggert +4 more
2008A M A Archives of Ophthalmology41 citations Open access
Semantic Scholar
Novel Alu Retrotransposon Insertion Leading to Alström Syndrome
M. Taşkesen, G. B. Collin, A. Evsikov, Ayşegül Güzel +3 more
2011Human Genetics39 citations Open access
Semantic Scholar
Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader–Willi and Alström syndromes
M. Butler, Kun Wang, J. Marshall, J. Naggert +3 more
2015Advances in Genomics and Genetics37 citations Open access
Semantic Scholar
The progression from obesity to type 2 diabetes in Alström syndrome
Vera Bettini, P. Maffei, C. Pagano, Sara Romano +10 more
2011Pediatric Diabetes37 citations Open access
Semantic Scholar
Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs
J. D. Hoffman, Z. Jacobson, T. Young, J. Marshall +1 more
2005American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Clinical utility gene card for: Alström Syndrome - update 2013
J. Marshall, P. Maffei, S. Beck, T. Barrett +2 more
2013European Journal of Human Genetics35 citations Open access
Semantic Scholar
Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.
Sara Romano, G. Milan, C. Veronese, G. B. Collin +9 more
2008International Journal of Molecular Medicine33 citations Open access
Semantic Scholar
Characterization of the IGF system in 15 patients with Alström syndrome
P. Maffei, M. Boschetti, J. Marshall, R. Paisey +9 more
2007Clinical Endocrinology32 citations
Semantic Scholar
The Alström syndrome: is it a rare or unknown disease?
P. Maffei, V. Munno, J. Marshall, C. Scandellari +1 more
2002Annali italiani di medicina interna : organo ufficiale della Societa italiana di medicina interna29 citations
Semantic Scholar
Cardiac manifestations of Alström syndrome: echocardiographic findings.
A. Makaryus, Michael E Zubrow, J. Marshall, L. Gillam +1 more
2007Journal of the American Society of Echocardiography27 citations
Semantic Scholar
Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes
Richard B. Paisey, R. Paisey, M. P. Thomson, L. Bower +4 more
2009Diabetes Care26 citations Open access
Semantic Scholar
Caloric restriction in Alström syndrome prevents hyperinsulinemia
Ni-Chung Lee, J. Marshall, G. B. Collin, J. Naggert +3 more
2009American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Pinocytosis in L cells: its dependence on membrane sterol and the cytoskeleton.
H. Heiniger, J. Marshall
1979Cell Biology International Reports23 citations
Semantic Scholar
Alström Syndrome is associated with short stature and reduced GH reserve
Sara Romano, Pietro Maffei, Vera Bettini, G. Milan +9 more
2013Clinical Endocrinology22 citations Open access
Semantic Scholar
Auditory and Otologic Profile of Alström Syndrome: Comprehensive Single Center Data on 38 Patients
Spencer Lindsey, C. Brewer, Olga A. Stakhovskaya, Hung-J. Kim +7 more
2017American Journal of Medical Genetics. Part A21 citations Open access
Semantic Scholar
Clinical utility gene card for: Alström syndrome
J. Marshall, P. Maffei, S. Beck, T. Barrett +1 more
2011European Journal of Human Genetics20 citations Open access
Semantic Scholar
Respiratory Manifestations in 38 Patients With Alström Syndrome
Caroline H. Boerwinkle, J. Marshall, Joy C. Bryant, W. Gahl +2 more
2016Pediatric Pulmonology19 citations Open access
Semantic Scholar
Effect of Metformin and Rosiglitazone in a Prepubertal Boy with Alström Syndrome
S. Sinha, A. Bhangoo, H. Anhalt, N. Maclaren +4 more
2007Journal of Pediatric Endocrinology & Metabolism (JPEM)19 citations
Semantic Scholar
Molecular analysis and long‐term clinical evaluation of three siblings with Alström syndrome
R. Özgül, I. Satman, G. B. Collin, E. Hinman +5 more
2007Clinical Genetics19 citations
Semantic Scholar
Murine "viable motheaten" mutation reveals a gene critical to the development of both B and T lymphocytes.
C. Sidman, J. Marshall, Ruth D. Allen
1989Proceedings of the National Academy of Sciences of the United States of America19 citations Open access
Semantic Scholar
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center
Meryl A. Waldman, Joan C. Han, Daniela P. Reyes-Capó, Joy C. Bryant +7 more
2018Molecular Genetics and Metabolism18 citations Open access
Semantic Scholar
Alström Syndrome: Cardiac Magnetic Resonance findings
F. Corbetti, R. Razzolini, Vera Bettini, J. Marshall +4 more
2012International Journal of Cardiology18 citations Open access
Semantic Scholar
Brain involvement in Alström syndrome
V. Citton, A. Favaro, Vera Bettini, J. Gabrieli +6 more
2013Orphanet Journal of Rare Diseases17 citations Open access
Semantic Scholar
High resolution spectral domain optical coherence tomography (OCT) images of Alström Syndrome
E. Vingolo, S. Salvatore, P. Grenga, P. Maffei +2 more
2010Journal of pediatric ophthalmology and strabismus17 citations Open access
Semantic Scholar
Bone marrow transplantation from mutant lpr/lpr mice. Functional abnormalities rather than alloantigenic differences appear to determine the development of a graft‐vs. ‐host‐like syndrome
Ruth D. Allen, J. Marshall, J. Roths, C. Sidman
1990European Journal of Immunology17 citations
Semantic Scholar
Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome
R. Paisey, Jamie C. Smith, Catherine M. Carey, T. Barrett +8 more
2015Journal of Clinical Endocrinology and Metabolism16 citations Open access
Semantic Scholar
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome
J. Mahamid, A. Lorber, Y. Horovitz, S. Shalev +4 more
2012Pediatric Cardiology16 citations Open access
Semantic Scholar

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J. Naggert×29
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G. B. Collin×21
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G. B. Collin — researcher profile on SciRah
P. Maffei×20
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G. Milan×12
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G. Milan — researcher profile on SciRah

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P. Nishina — researcher profile on SciRah

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Joy C. Bryant — researcher profile on SciRah