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Author Details

Pavel N Pichurin
Mayo Clinic
1999
76
24
PMIDPaper TitleJournal TitlePublished Year
36745126Impact of integrated translational research on clinical exome sequencing.Genet Med2023
37398376Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.medRxiv2023
37450072Belzutifan in adults with VHL-associated central nervous system hemangioblastoma: a single-center experience.J Neurooncol2023
37253099Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.Brain2023
36745126Impact of integrated translational research on clinical exome sequencing.Genet Med2023
37253099Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.Brain2023
37450072Belzutifan in adults with VHL-associated central nervous system hemangioblastoma: a single-center experience.J Neurooncol2023
37398376Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.medRxiv2023
35948005A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.Am J Hum Genet2022
35948005A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.Am J Hum Genet2022
36195757Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.Nat Genet2022
36195757Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.Nat Genet2022
33144682Impact of integrated translational research on clinical exome sequencing.Genet Med2021
34120753Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection.Mayo Clin Proc2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
34211179Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nat Genet2021
34040189UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.Genet Med2021
34258142The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.JIMD Rep2021
33144682Impact of integrated translational research on clinical exome sequencing.Genet Med2021
34746741Genomics Integration Into Nephrology Practice.Kidney Med2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
34746741Genomics Integration Into Nephrology Practice.Kidney Med2021
34040189UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.Genet Med2021
34211179Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nat Genet2021
34120753Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection.Mayo Clin Proc2021
34258142The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.JIMD Rep2021
32483341A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Eur J Hum Genet2020
32145091Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.Hepatology2020
31883306Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.Am J Med Genet A2020
32483341A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Eur J Hum Genet2020
32918542Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.Mol Genet Genomic Med2020
32791958Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.BMC Nephrol2020
32721632Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.Thromb Res2020
31883306Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.Am J Med Genet A2020
32918542Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.Mol Genet Genomic Med2020
32791958Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.BMC Nephrol2020
32721632Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.Thromb Res2020
32145091Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.Hepatology2020
30282051Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.Clin Immunol2019
30282051Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.Clin Immunol2019
30963136Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature.J Endocr Soc2019
30734472De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.Am J Med Genet A2019
30897549Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation.Endocrinol Diabetes Metab Case Rep2019
30827496Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.Am J Hum Genet2019
30897549Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation.Endocrinol Diabetes Metab Case Rep2019
30734472De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.Am J Med Genet A2019
30827496Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.Am J Hum Genet2019
30963136Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature.J Endocr Soc2019
29061454Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome.World Neurosurg2018
30450772Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.Am J Med Genet A2018
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Collaborators

Eric W Klee
Mayo Clinic College of Medicine and Science
Co-authored papers 21
Konstantinos N Lazaridis
Mayo Clinic
Co-authored papers 6
Michael T Zimmermann
Medical College of Wisconsin
Co-authored papers 5
Noralane M Lindor
Mayo Clinic
Co-authored papers 4
Matthew J Ferber
Mayo Clinic
Co-authored papers 4
Marissa S Ellingson
Mayo Clinic
Co-authored papers 4
Gianrico Farrugia
Mayo Clinic Gastroenterology and Hepatology, Mayo Clinic
Co-authored papers 3
Kimiyo Raymond
Co-authored papers 3
Dong Li
Co-authored papers 3
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 3
Evan E Eichler
University of Washington
Co-authored papers 3
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 2
James R Lupski
Baylor College of Medicine
Co-authored papers 2
Christian Gilissen
Radboud University Medical Center
Co-authored papers 2
Zöe Powis
Co-authored papers 2
Steven Gallinger
Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto
Co-authored papers 2
Robert W Williams
Mayo Clinic
Co-authored papers 2
Eric D Wieben
Mayo Clinic Rochester
Co-authored papers 2
Garrett Jenkinson
Mayo Clinic
Co-authored papers 2
Juliane Winkelmann
Co-authored papers 2
Marco Tartaglia
Co-authored papers 2
Francesca Clementina Radio
Ospedale Pediatrico Bambino Gesu IRCCS
Co-authored papers 2
Scott A Beck
Center for Individualized Medicine, College of Medicine, Mayo Clinic
Co-authored papers 2
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 2
Alexander Keith Stewart
Co-authored papers 2
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 2
Julie S Cohen
Kennedy Krieger Institute
Co-authored papers 2
Haran Sivakumaran
QIMR Berghofer Medical Research Institute
Co-authored papers 1
David E Goldgar
University of Utah
Co-authored papers 1
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
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Release 1.2