ErinConboyMD

PubMed

• 1 citations
  Case of IFT140-associated Mainzer Saldino Syndrome.
  Shivam H Patel, Saaquib Bakhsh, Erin Conboy, Amir R Hajrasouliha> ;Ophthalmic Genetics. 2023 Apr 1
• 30 citations
  BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
  Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Ugur, Jeremy Wegner, Tiana M. Scott, Brett ...> ;American Journal of Human Genetics. 2020 Dec 3
• 5 citations
  Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
  Gisele Pino, Erin Conboy, Silvia Tortorelli, Sara Minnich, Kim K. Nickander, Jean M. Lacey, Dawn Peck, April Studinski, Amy M White, Dimitar Gavrilov, Piero Rinaldo, D...> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 31 citations
  RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
  Margot A. Cousin, Erin Conboy, Jian-She Wang, Dominic Lenz, Tanya L. Schwab, Monique Williams, Roshini S. Abraham, Sarah S. Barnett, Mounif El-Youssef, Rondell P. Grah...> ;American Journal of Human Genetics. 2019 Jul 3
• 14 citations
  RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
  Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Vairo, Matthew Webley, Erik C. Thorland, Matthew J. Ferber, Els Van Hul, Ilse M. van ...> ;Molecular Genetics & Genomic Medicine. 2019 Jan 10
• 6 citations
  Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls
  Filippo Vairo, Erin Conboy, Carolina Fischinger Moura de Souza, Amie E. Jones, Sarah S. Barnett, Eric W. Klee, Brendan C. Lanpher> ;Pediatrics. 2018 Dec 1
• 10 citations
  Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype.
  Erin Conboy, Duygu Selcen, Michael C. Brodsky, Ralitza H. Gavrilova, Mai-Lan Ho> ;Seminars in Pediatric Neurology. 2018 Jul 1
• 51 citations
  Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
  Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E. Posey...> ;American Journal of Human Genetics. 2018 May 3
• 16 citations
  The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients
  Filippo Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konsta...> ;Molecular Genetics and Metabolism Reports. 2017 Dec 1
• 12 citations
  Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
  Fateh Bazerbachi, Erin Conboy, Taofic Mounajjed, Kymberly D. Watt, Dusica Babovic-Vuksanovic, Shailendra B. Patel, Patrick S. Kamath> ;Annals of Hepatology. 2017 Nov 1
• 4 citations
  A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting from Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant
  Erin Conboy, Paige I. Partain, Michelle L. Kluge, Carola A.S. Arndt, Dong Chen, Vilmarie Rodriguez, Deepti M. Warad> ;Journal of Pediatric Hematology/oncology. 2017 Jul 1
• 13 citations
  Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
  Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel N. Pichurin> ;Case Reports in Genetics. 2017 Apr 12
• 23 citations
  Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.
  Erin Conboy, Filippo Vairo, Matthew J. Schultz, Katherine Agre, Ross Ridsdale, David R. Deyle, Devin Oglesbee, Dimitar Gavrilov, Eric W. Klee, Brendan C. Lanpher> ;JIMD Reports. 2017 Oct 14
• 14 citations
  Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
  Erin Conboy, Radhika Dhamija, Margaret Wang, Jing Xie, P. James B. Dyck, Alina G. Bridges, Robert J. Spinner, Amy C. Clayton, Robert E. Watson, Ludwine Messiaen, Dusic...> ;Journal of Medical Genetics. 2016 Feb 1
• 28 citations
  Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective
  Amber Volk, Erin Conboy, Beverly Wical, Marc C. Patterson, Salman Kirmani> ;Molecular Syndromology. 2015 Feb 3
• 11 citations
  Endurance training reduces renal vasoconstriction to orthostatic stress
  Erin Conboy, Amy E. Fogelman, Charity L. Sauder, Chester A. Ray> ;American Journal of Physiology. Renal Physiology. 2010 Feb 1
• 7 citations
  Otolithic activation on visceral circulation in humans: effect of aging.
  Charity L. Sauder, Erin Conboy, Stephanie A. Chin-Sang, Chester A. Ray> ;American Journal of Physiology. Renal Physiology. 2008 Oct 1
• 129 citations
  Dendrite remodeling and other abnormalities in the retinal ganglion cells of Ins2 Akita diabetic mice.
  Matthew J. Gastinger, Allen R. Kunselman, Erin Conboy, Sarah K. Bronson, Alistair J. Barber> ;Investigative Ophthalmology & Visual Science. 2008 Jun 1
• 112 citations
  Amyloid-β(1−42) Rapidly Forms Protofibrils and Oligomers by Distinct Pathways in Low Concentrations of Sodium Dodecylsulfate†
  Vijayaraghavan Rangachari, Brenda D. Moore, Dana Kim Reed, Leilani K. Sonoda, Alexander W. Bridges, Erin Conboy, David E. Hartigan, Terrone L. Rosenberry> ;Biochemistry. 2007 Oct 2
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