JaimeEnriqueVengoechea BarriosMD

PubMed

• Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
  Ayse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, Yuan Chang, Adrian Levine, Zhihui Amy Liu, Logine Negm, Melissa Edwards, Vanessa Bianchi, Lucie Stengs, Jiil C...> ;The Lancet. Oncology. 2024 Mar 26
• Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
  Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Sarah K Fiordaliso, Yukiko Kuroda, Jaime Vengoechea, Angela Grochowsky, ...> ;Human Genetics. 2024 Mar 23
• 1 citations
  Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.
  Oyintayo Ajiboye, Jaime E Vengoechea, Ritu Gupta, Koba Lomashvili> ;The American Journal of Case Reports. 2023 Nov 22
• Isolated cardiomyopathy in a pathogenic X-linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of muscul...
  Rana Aljaberi, Jaime Vengoechea> ;American Journal of Medical Genetics. Part A. 2024 Mar 1
• 2 citations
  De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
  Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F Berkovic, Martin Broly, Patrick Callaerts, Raymond C Caylor, Perrine Charles, ...> ;Genetics in Medicine. 2022 Dec 1
• 6 citations
  Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
  Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Sc...> ;Brain. 2022 Sep 14
• Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.
  Aixa Gonzalez, Sunaina Kapur, Matthew B. Walsh, Jaime Vengoechea> ;American Journal of Medical Genetics. Part A. 2021 Apr 29
• 21 citations
  Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
  Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C Orellana, Grazia Fazio, Fred H. Rodriguez, Loreani P Noguera, Claire Booth, Valentina Jarur...> ;Blood. 2021 Jan 28
• 4 citations
  Association of metabolic syndrome with glioblastoma: a retrospective cohort study and review.
  Lisa Rogers, Quinn T. Ostrom, Julia Schroer, Jaime Vengoechea, Li Li, Stanton L. Gerson, Charles J. Nock, Mitchell Machtay, Warren R. Selman, Simon Lo, Andrew E. Sloan...> ;Neuro-Oncology Practice. 2020 Sep 25
• 1 citations
  Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystonia.
  Svjetlana Miocinovic, Jaime Vengoechea, Mark S. LeDoux, Faical Isbaine, H.A. Jinnah> ;Parkinsonism & Related Disorders. 2020 Mar 27
• 4 citations
  A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
  Jaime Vengoechea, Janette diMonda> ;American Journal of Medical Genetics. Part A. 2020 Mar 23
• 6 citations
  Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic sp...
  Laina G. Lusk, Emily Black, Jaime Vengoechea> ;Journal of Medical Genetics. 2020 Feb 1
• 7 citations
  A rare mutation in hypophosphatasia: a case report of adult form and review of the literature.
  Francisco Galeano-Valle, Jaime Vengoechea, Rodolfo J. Galindo> ;Archives of Endocrinology and Metabolism. 2019 Jan 1
• 3 citations
  In reply to “Mast Cell Disorders in Ehlers–Danlos Syndrome”
  Jaime Vengoechea> ;American Journal of Medical Genetics. Part A. 2018 Jan 1
• 5 citations
  A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges
  Jaime Vengoechea, Christine Tallo> ;Journal of Medical Genetics. 2017 Oct 1
• 25 citations
  A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
  Harsh V. Gupta, Jaime Vengoechea, Kinshuk Sahaya, Tuhin Virmani> ;Parkinsonism & Related Disorders. 2015 Dec 1
• 13 citations
  Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia
  Jaime Vengoechea, Lori Carpenter> ;American Journal of Medical Genetics. Part A. 2015 Jun 1
• 15 citations
  Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant
  Yuri A. Zarate, Katherine A. Bosanko, Chaowapong Jarasvaraparn, Jaime Vengoechea, Elizabeth M. McDonough> ;Case Reports in Pediatrics. 2014 Jun 15
• 14 citations
  Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.
  Jaime Vengoechea, Lori Carpenter, Yuri A. Zarate> ;American Journal of Medical Genetics. Part A. 2014 Apr 3
• 69 citations
  Molecular subtypes of glioblastoma are relevant to lower grade glioma
  Xiaowei Guan, Jaime Vengoechea, Siyuan Zheng, Andrew E. Sloan, Yanwen Chen, Daniel J. Brat, Brian P. O'Neill, John de Groot, Shlomit Yust-Katz, W. K. A. Yung, Mark L. ...> ;Plos One. 2014 Mar 10
• 26 citations
  Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.
  Jaime Vengoechea, Marjorie P. David, Shadi Yaghi, Lori Carpenter, Stacy A. Rudnicki> ;Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 2013 Nov 1
• 22 citations
  Methylation markers of malignant potential in meningiomas.
  Jaime Vengoechea, Andrew E. Sloan, Yanwen Chen, Xiaowei Guan, Quinn T. Ostrom, Amber E Kerstetter, Devan Capella, Mark L. Cohen, Yingli Wolinsky, Karen Devine, Warren ...> ;Journal of Neurosurgery. 2013 Oct 1
• 1 citations
  Genetics and cardiovascular disease: the impact of molecular diagnosis.
  Jaime Vengoechea, Kent D. McKelvey> ;The Journal of the Arkansas Medical Society. 2013 Apr 1
• 21 citations
  De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity
  Jaime Vengoechea, Aditi Shah Parikh, Shulin Zhang, Flora Tassone> ;European Journal of Human Genetics. 2012 May 2
• 10 citations
  Misconduct in medical students.
  Jaime Vengoechea, Socorro Moreno, Álvaro J. Ruiz> ;Developing World Bioethics. 2008 Dec 1
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