GeraldSchaeferMD

PubMed

• 4 citations
  Multimodal imaging of an RPGR carrier female.
  David A. Kilgore, Tyler A Kilgore, Suporn Sukpraprut-Braaten, G B Schaefer, Sami H. Uwaydat> ;Ophthalmic Genetics. 2021 Feb 23
• 16 citations
  Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
  Yuri A. Zarate, Luigi Boccuto, Sujata Srikanth, Rini Pauly, Eylem Ocal, Tonya Balmakund, Kevin Hinkle, Vikki Stefans, G B Schaefer, Ronnie Thomas Collins> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 7 citations
  A Parent-Of-Origin Analysis of Paternal Genetic Variants and Increased Risk of Conotruncal Heart Defects
  Wendy N. Nembhard, Xinyu Tang, Jingyun Li, Stewart L. MacLeod, Joseph W. Levy, G B Schaefer, Charlotte A. Hobbs> ;American Journal of Medical Genetics. Part A. 2018 Mar 1
• 13 citations
  The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
  Benjamin M. Helm, Zöe Powis, Carlos E. Prada, Olga L. Casasbuenas‐Alarcon, Tonya Balmakund, G B Schaefer, Stephen G. Kahler, Julie Kaylor, Susan Winter, Yuri A. Zarate...> ;American Journal of Medical Genetics. Part A. 2017 Aug 17
• 6 citations
  Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
  M. Vivero, Megan T. Cho, Amber Begtrup, Ingrid M. Wentzensen, Larry Walsh, Katelyn Payne, Yuri A. Zarate, K. Bosanko, G B Schaefer, S. Debrosse, L. Pollack, K. Mason, ...> ;Clinical Genetics. 2017 Jun 1
• 12 citations
  Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
  Amy K. Johnson, G B Schaefer, Jennifer A. Lee, Ying Hu, Daniela del Gaudio> ;American Journal of Medical Genetics. Part A. 2017 May 1
• 39 citations
  A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team
  Shobana Kubendran, Siddharthan Sivamurthy, G B Schaefer> ;Genetics in Medicine. 2017 Apr 27
• McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders.
  William D. Walters, Adolfo D. Garnica, G B Schaefer> ;Seminars in Pediatric Neurology. 2017 Apr 1
• 4 citations
  Correction: G. Bradley Schaefer. Clinical Genetic Aspects of ASD Spectrum Disorders. Int. J. Mol. Sci. 2016, 17, 180.
  G B Schaefer> ;International Journal of Molecular Sciences. 2016 Sep 19
• 4 citations
  What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newbor...
  G B Schaefer, Ingrid A. Larson, JoAnn Bolick, Lori Williamson-Dean> ;Genetics in Medicine. 2016 May 1
• 14 citations
  A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
  Elizabeth A. Sellars, Katherine A. Bosanko, Tiffany Lepard, Adolfo D. Garnica, G B Schaefer> ;Seminars in Pediatric Neurology. 2014 Jun 1
• Editorial comment: An unusual cause of peroneal neuropathy.
  G B Schaefer> ;Seminars in Pediatric Neurology. 2014 Jun 1
• 1 citations
  Postterm closure of the cavum septi pellucidi and developmental outcome in premature infants.
  Howard Needelman, Bruce Schroeder, Matthew Sweeney, John Schmidt, John B. Bodensteiner, G B Schaefer> ;Journal of Child Neurology. 2007 Mar 1
• 2 citations
  Clinical genetics in pediatric physical therapy practice? The future.
  G B Schaefer> ;Pediatric Physical Therapy. 2001 Jan 1
• 156 citations
  Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
  Philip M. Kelley, T W Fowler, M P Gorga, D M Lefkowitz, H J Kuehn, G B Schaefer, L S Gobar, F J Hahn, D.J. Harris, William J. Kimberling, Edward S. Cohn> ;Pediatrics. 1999 Mar 1
• Oto-palatal-digital syndromes.
  G B Schaefer, Peg Kolodziej, Ann Haskins Olney> ;Ear, Nose, & Throat Journal. 1998 Aug 1
• 1 citations
  Oculo-auriculo-vertebral spectrum.
  G B Schaefer, Ann Haskins Olney, Peg Kolodziej> ;Ear, Nose, & Throat Journal. 1998 Jan 1
• 27 citations
  Dementia Pugilistica and Cavum Septi Pellucidi: Born to Box?
  John B. Bodensteiner, G B Schaefer> ;Sports Medicine. 1997 Dec 1
• 1 citations
  Van der Woude syndrome.
  Ann Haskins Olney, G B Schaefer, Peg Kolodziej> ;Ear, Nose, & Throat Journal. 1997 Dec 1
• 1 citations
  Gene testing for cancer susceptibility.
  Reiser G, G B Schaefer> ;The Nebraska Medical Journal. 1996 Dec 1
• Cerebral palsy--an update. Part I: Classification and etiology.
  D L Hanna, M Fisher, G B Schaefer> ;The Nebraska Medical Journal. 1995 Jul 1
• Cerebral palsy--an update. Part II: Clinical presentation and early intervention.
  D L Hanna, M Fisher, G B Schaefer> ;The Nebraska Medical Journal. 1995 Jul 1
• 9 citations
  Evaluation of the patient with idiopathic mental retardation.
  John B. Bodensteiner, G B Schaefer> ;The Journal of Neuropsychiatry and Clinical Neurosciences. 1995 Jan 1
• 16 citations
  Cerebral dysgenesis. An overview
  G B Schaefer, Raj D. Sheth, John B. Bodensteiner> ;Neurologic Clinics. 1994 Nov 1
• 17 citations
  Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and...
  Leonard O. Langer, G B Schaefer, Wadsworth Dt> ;American Journal of Medical Genetics. 1993 Oct 1
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