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Pavel N. Pichurin

Observed names: P N PICHURIN, P N Pichurin, P PICHURIN, P Pichurin, P. N. Pichurin, P. Pichurin, P.N. Pichurin, Pavel N. Pichurin, Pavel N Pichurin, Pavel Pichurin, Pavel N. Pichurin, Pichurin Pavel, Pichurin, Pavel N
ORCID: 0000-0002-6336-136X
Observed ORCID: 0000-0002-6336-136X
OpenAlex ID: A5065352274
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
2016 · Jun Li, Susan L. Woods, et al. · The American Journal of Human Genetics · 271
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The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim
2003 · Chun-Rong Chen, Pavel Pichurin, et al. · Journal of Clinical Investigation · 246
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Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic
2015 · A. D. Nelson, M. A. Mouchli, et al. · Neurogastroenterology & Motility · 183
Thyroid-stimulating autoantibodies in Graves disease preferentially recognize the free A subunit, not the thyrotropin holoreceptor
2002 · Gregorio D. Chazenbalk, Pavel Pichurin, et al. · Journal of Clinical Investigation · 131
The Link between Graves’ Disease and Hashimoto’s Thyroiditis: A Role for Regulatory T Cells
2007 · Sandra M. McLachlan, Yuji Nagayama, et al. · Endocrinology · 129
Thyroid-stimulating autoantibodies in Graves disease preferentially recognize the free A subunit, not the thyrotropin holoreceptor
2002 · Gregorio D. Chazenbalk, Pavel Pichurin, et al. · Journal of Clinical Investigation · 112
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
2021 · Margot A. Cousin, Blake A. Creighton, et al. · Nature Genetics · 103
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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic
2016 · Konstantinos N. Lazaridis, Kimberly A. Schahl, et al. · Mayo Clinic Proceedings · 101
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review
2014 · Karen E. Wain, Marissa S. Ellingson, et al. · Genetics in Medicine · 78
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Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
2024 · Ayse Bahar Ercan, Melyssa Aronson, et al. · The Lancet Oncology · 76
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
2021 · Sarah E. Sheppard, Ian M. Campbell, et al. · American Journal of Medical Genetics Part A · 72
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
2019 · Brett V. Johnson, Raman Kumar, et al. · Biological Psychiatry · 68
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PMS2 monoallelic mutation carriers: the known unknown
2015 · McKinsey L. Goodenberger, Brittany C. Thomas, et al. · Genetics in Medicine · 64
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Low-Dose Immunization with Adenovirus Expressing the Thyroid-Stimulating Hormone Receptor A-Subunit Deviates the Antibody Response toward That of Autoantibodies in Human Graves’ Disease
2003 · Chun-Rong Chen, Pavel Pichurin, et al. · Endocrinology · 62
Impact of integrated translational research on clinical exome sequencing
2020 · Eric W. Klee, Margot A. Cousin, et al. · Genetics in Medicine · 57
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Naked TSH Receptor DNA Vaccination: A TH1 T Cell Response in Which Interferon-γ Production, Rather than Antibody, Dominates the Immune Response in Mice
2001 · Pavel Pichurin, Xin-Min Yan, et al. · Endocrinology · 55
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
2019 · Benjamin Cogné, Sophie Ehresmann, et al. · The American Journal of Human Genetics · 53
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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
2019 · Pantelis Nicola, Patrick R. Blackburn, et al. · American Journal of Medical Genetics Part A · 52
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
2020 · Theodore G. Drivas, Dong Li, et al. · European Journal of Human Genetics · 51
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A Prion-Like Shift between Two Conformational Forms of a Recombinant Thyrotropin Receptor A-Subunit Module: Purification and Stabilization Using Chemical Chaperones of the Form Reactive with Graves’ Autoantibodies1
2001 · Gregorio D. Chazenbalk, Sandra M. McLachlan, et al. · The Journal of Clinical Endocrinology & Metabolism · 50
Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection
2021 · Jing Miao, Filippo Pinto e Vairo, et al. · Mayo Clinic Proceedings · 49
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Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease
2020 · Magda Cannata Serio, Laurie A. Graham, et al. · Hepatology · 48
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Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium
2016 · Melyssa Aronson, Steven Gallinger, et al. · The American Journal of Gastroenterology · 48
Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis
2013 · Stephanie K. Gandomi, K. D. Farwell Gonzalez, et al. · Journal of Genetic Counseling · 48
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Susceptibility Rather than Resistance to Hyperthyroidism Is Dominant in a Thyrotropin Receptor Adenovirus-Induced Animal Model of Graves’ Disease as Revealed by BALB/c-C57BL/6 Hybrid Mice
2004 · Chun-Rong Chen, H. Aliesky, et al. · Endocrinology · 46
Works count: 109
Citation count: 3,372
H-index: 31
I10-index: 70
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