JacobHogueMD

PubMed

• Weight a Minute! Eye Did Not Expect That.
  Daniel Borbon, Jacob S Hogue, William Raymond, Homo, R., Richelle Lu Homo> ;Pediatrics in Review. 2023 Oct 1
• Battlefield Triage and Resource Allocation during a Pandemic: Learning from the Past and Adapting for the Future.
  Jeanne A Krick, Jacob S Hogue, Matthew A Studer, Tyler R Reese, Elliot M Weiss> ;Medical Journal. 2022 Aug 11
• 11 citations
  Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
  Nina McTiernan, Lisbeth Tranebjærg, Anna S Bjørheim, Jacob S Hogue, William G Wilson, Berkley Schmidt, Melissa M Boerrigter, Maja L Nybo, Marie F Smeland, Zeynep Tümer...> ;Human Genetics. 2022 Aug 1
• Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation
  Jonathan Chooey, Connor Trexler, Amy M. Becker, Jacob Hogue> ;American Journal of Medical Genetics. Part A. 2021 Sep 2
• Choking and Cyanotic Episodes in a 3-month-old Male.
  Gabriel Paris, Nicholas Friedman, Jacob Hogue> ;Pediatrics in Review. 2021 Jan 1
• 16 citations
  Uncertainty: An Uncomfortable Companion to Decision-making for Infants
  Jeanne Krick, Jacob Hogue, Tyler R Reese, Matthew A. Studer> ;Pediatrics. 2020 Aug 1
• 6 citations
  NRAS associated RASopathy and embryonal rhabdomyosarcoma
  Benjamin Garren, Mark J. Stephan, Jacob Hogue> ;American Journal of Medical Genetics. Part A. 2020 Jan 1
• 38 citations
  Cohesin complex-associated holoprosencephaly
  Paul Kruszka, Seth I. Berger, Valentina Casa, Mike R. Dekker, Jenna Gaesser, Karin Weiss, Ariel F. Martinez, David R. Murdock, Raymond J. Louie, Eloise J. Prijoles, An...> ;Brain. 2019 Sep 1
• 3 citations
  Congenital lumbar hernia–A feature of diabetic embryopathy?
  Cathy A. Stevens, Jacob Hogue, Robert J. Hopkin, Rachel C. Lombardo, Samantha A. Schrier Vergano> ;American Journal of Medical Genetics. Part A. 2018 Nov 1
• 3 citations
  Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature.
  John Paul Schacht, Elisha Farnworth, Jacob Hogue, Luis Rohena> ;Clinical Case Reports. 2018 Jan 1
• 14 citations
  An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
  Paul Dimitri, Elisa De Franco, Abdelhadi M. Habeb, Fatih Gurbuz, Khairya Moussa, Doris Taha, Jerry Wales, Jacob Hogue, Anne Slavotinek, Ambika Shetty, Meena Balasubram...> ;American Journal of Medical Genetics. Part A. 2016 May 5
• 1 citations
  Erratum: Expanding the clinical spectrum associated with GLIS3 mutations (The Journal of Clinical Endocrinology & Metabolism (2015) 100:10 (E1362-E1369) DOI: 10.1210/j...
  Paul Dimitri, Abdelhadi M. Habeb, F. Garbuz, Ann Millward, S. Wallis, K. Moussa, Teoman Akcay, Doris Taha, Jacob Hogue, Anne Slavotinek, Jeremy K.H. Wales, A. Shetty, ...> ;The Journal of Clinical Endocrinology and Metabolism. 2015 Dec 1
• 49 citations
  Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
  Paul Dimitri, Abdelhadi M. Habeb, F. Garbuz, Ann Millward, S. Wallis, K. Moussa, Teoman Akcay, Doris Taha, Jacob Hogue, Anne Slavotinek, Jeremy K.H. Wales, A. Shetty, ...> ;The Journal of Clinical Endocrinology and Metabolism. 2015 Aug 10
• 52 citations
  Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
  Karen W. Gripp, Katherine M. Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob Hogue, Elaine H. Zackai, Kimber...> ;American Journal of Medical Genetics. Part A. 2015 Feb 1
• 80 citations
  De novo mutations in beta - catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
  Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht, Carlos A. Bacino, Dennis Bartholomew, Hans van Bokhoven, Marie José H. Van Den Boogaard, Nuria C. Bramswig, Chri...> ;Human Genetics. 2015 Jan 1
• 11 citations
  Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
  Jacob Hogue, Chung Lee, Angie C. Jelin, MN Strecker, Victoria A. Cox, Anne Slavotinek> ;Clinical Genetics. 2013 Oct 1
• 11 citations
  Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
  Kyle B. Jones, Alice F. Goodwin, Maya Landan, Kerstin Seidel, Dong-Kha Tran, Jacob Hogue, Miquella G. Chavez, Mary Fete, Wenli Yu, Tarek Hussein, Ramsey Johnson, Kenne...> ;American Journal of Medical Genetics. Part A. 2013 Jul 1
• 4 citations
  Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue
  Ben Li, Jacob Hogue, Meg Eilers, Pavni Mehrotra, James C. Hyland, Tara Holm, Tracy L. Prosen, Anne Slavotinek> ;American Journal of Medical Genetics. Part A. 2013 Feb 11
• 2 citations
  Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monoc...
  Eveline H. Shue, Bruno P. Soares, Jesse Courtier, Jacob Hogue, Thomas K. Shimotake, Tippi C. MacKenzie> ;Journal of Pediatric Surgery. 2012 Oct 1
• 71 citations
  Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
  Margaret J. Wat, Danielle Veenma, Jacob Hogue, Ashley M. Holder, Zhiyin Yu, Jeanette J. Wat, Neil A. Hanchard, Oleg A. Shchelochkov, Caraciolo J. Fernandes, Anthony Jo...> ;Journal of Medical Genetics. 2011 May 1
• 22 citations
  A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia
  Jacob Hogue, Suma P. Shankar, Hazel Perry, Reena Patel, Karin Vargervik, Anne Slavotinek> ;American Journal of Medical Genetics. Part A. 2010 Oct 1
• 9 citations
  Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization.
  Angie C. Jelin, Hazel Perry, Jacob Hogue, Snehlata Oberoi, Philip D. Cotter, Ophir D. Klein> ;The Journal of Craniofacial Surgery. 2010 Sep 1
• 31 citations
  Mupirocin Resistance Related to Increasing Mupirocin Use in Clinical Isolates of Methicillin-Resistant Staphylococcus aureus in a Pediatric Population
  Jacob Hogue, Patricia Buttke, LoRanée Braun, Mary P. Fairchok> ;Journal of Clinical Microbiology. 2010 Jul 1
• 51 citations
  Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
  Tiong Yang Tan, Salim Aftimos, Lisa Worgan, Rachel Susman, Meredith Wilson, Sondhya Ghedia, Edwin P. Kirk, Donald R. Love, Anne Ronan, Artur Darmanian, Anne Slavotinek...> ;Journal of Medical Genetics. 2009 Jul 1
• 8 citations
  Mupirocin resistance screening of methicillin-resistant Staphylococcus aureus isolates at Madigan Army Medical Center
  Dana Perkins, Jacob Hogue, Mary P. Fairchok, LoRanée Braun, Helen B. Viscount> ;Military Medicine. 2008 Jun 1
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