GunterHScharerMD

PubMed

• Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples.
  Ulrich Broeckel, M Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L Nagy, Gunter Scharer, Vanessa Rodriguez, Aaron Bossler, Aaron Stence, Cindy Skinner, Steven A Skin...> ;The Journal of Molecular Diagnostics. 2024 Mar 1
• 1 citations
  Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing.
  Amy J Turner, Cyrine E Haidar, Wenjian Yang, Erin C Boone, Steven M Offer, Philip E Empey, Andrew Haddad, Saba Tahir, Gunter Scharer, Ulrich Broeckel, Andrea Gaedigk> ;Clinical and Translational Science. 2024 Jan 1
• Response to Grosse et al.
  Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Ang...> ;American Journal of Human Genetics. 2023 Jun 1
• 12 citations
  Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
  M Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil S Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stev...> ;The Journal of Molecular Diagnostics. 2023 Mar 1
• 2 citations
  Characterization of complex structural variation in thegene loci using single-molecule long-read sequencing.
  Amy J Turner, Ashley D Derezinski, Andrea Gaedigk, Mark E Berres, David B Gregornik, Keith Brown, Ulrich Broeckel, Gunter Scharer> ;Frontiers in Pharmacology. 2023 Jan 1
• 47 citations
  A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
  Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Ang...> ;American Journal of Human Genetics. 2022 Sep 1
• 19 citations
  An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
  Mallory J Owen, Sebastien Lefebvre, Christian Hansen, Chris M Kunard, David P Dimmock, Laurie D Smith, Gunter Scharer, Rebecca Mardach, Mary J Willis, Annette Feigenba...> ;Nature Communications. 2022 Jul 26
• Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
  Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez-Pombo, Marja-Leena Väisänen, Elaine B. Spector, Geralyn Cr...> ;Genetics in Medicine. 2018 Sep 1
• 44 citations
  A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
  Dinel A. Pond, Florence A. Arts, Nancy J. Mendelsohn, Jean-Baptiste Demoulin, Gunter Scharer, Yoav H. Messinger> ;Genetics in Medicine. 2018 Jan 1
• 19 citations
  Biallelic TOR1A variants in an infant with severe arthrogryposis.
  Sara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H. Scharer> ;Neurology. Genetics. 2017 Jun 1
• 9 citations
  X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
  Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert A. Martens, Tamim H. Shaikh, Curtis R. Coughlin, Hung-Chun Yu, Micha...> ;Pediatric Neurology. 2017 Jun 1
• 10 citations
  The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
  Lori Anne P. Schillaci, Carol L. Greene, Erin T. Strovel, Jessica Rispoli-Joines, Elaine B. Spector, Michael Woontner, Gunter Scharer, Gregory M. Enns, Renata C. Galla...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 46 citations
  The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
  Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez-Pombo, Marja-Leena Väisänen, Elaine B. Spector, Geralyn Cr...> ;Genetics in Medicine. 2017 Jan 1
• 49 citations
  Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
  Michael A. Swanson, Curtis R. Coughlin, Gunter Scharer, Heather Szerlong, Kendra Bjoraker, Elaine B. Spector, Geralyn Creadon-Swindell, Vincent Mahieu, Gert Matthijs, ...> ;Annals of Neurology. 2015 Oct 1
• 56 citations
  BAG3 myofibrillar myopathy presenting with cardiomyopathy
  Chamindra G. Konersman, Brett J. Bordini, Gunter Scharer, Michael W. Lawlor, Steven Zangwill, James F. Southern, Louella B. Amos, Gabrielle C. Geddes, Robert M. Kliegm...> ;Neuromuscular Disorders. 2015 May 1
• 55 citations
  Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
  Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung-Chun Yu, Elizabeth A. Geiger, Geralyn Creadon-Swindell, Abigail Collins, Arnaud Vanlander, Rudy Van Cost...> ;Journal of Medical Genetics. 2015 Mar 18
• A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.
  Geddes, G. C.,Dimmock, D. P.,Hehir, D. A.,Helbling, D. C.,Kirkpatrick, E.,Loomba, R.,Southern, J.,Waknitz, M.,Scharer, G.,Konduri, G. G.> ;J Perinatol. 2015 Jan 30
• 6 citations
  In the Absence of Evidentiary Harm, Existing Societal Norms Regarding Parental Authority Should Prevail
  Kimberly A. Strong, Arthur R. Derse, David Dimmock, Kaija L. Zusevics, Jessica Jeruzal, Elizabeth A. Worthey, David P. Bick, Gunter Scharer, Alison La Pean Kirschner, ...> ;The American Journal of Bioethics. 2014 Mar 4
• 154 citations
  Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
  Peter R. Baker, Marisa W. Friederich, Michael A. Swanson, Tamim H. Shaikh, Kaustuv Bhattacharya, Gunter Scharer, Joseph K. Aicher, Geralyn Creadon-Swindell, Elizabeth ...> ;Brain. 2014 Feb 1
• 22 citations
  Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
  Sirisha Peddibhotla, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance, Marilyn J. Bull, Dorothy K. Grange, Gunter Sc...> ;American Journal of Medical Genetics. Part A. 2013 Dec 1
• 13 citations
  A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
  Carter D. Wray, Marisa W. Friederich, Desiree du Sart, Sarah Pantaleo, Joél Smet, Cathlin Kucera, Laura Z. Fenton, Gunter Scharer, Rudy Van Coster, Johan L.K. Van Hove> ;Mitochondrion. 2013 Nov 1
• 89 citations
  An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
  Hung-Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schne...> ;American Journal of Human Genetics. 2013 Sep 5
• 34 citations
  TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
  Wojciech Wiszniewski, Jill V. Hunter, Neil A. Hanchard, Jason R. Willer, Chad A. Shaw, Qi Tian, Anna Illner, Xueqing Wang, Sau Wai Cheung, Ankita Patel, Ian M. Campbel...> ;American Journal of Human Genetics. 2013 Aug 8
• 80 citations
  Genomics in Clinical Practice: Lessons from the Front Lines
  Howard J. Jacob, Kelly Abrams, David P. Bick, Kent Brodie, David Dimmock, Michael H. Farrell, Jennifer L. Geurts, Jeremy M. Harris, Daniel Helbling, Barbara J. Joers, ...> ;Science Translational Medicine. 2013 Jul 17
• 41 citations
  Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
  Curtis R. Coughlin, Gunter Scharer, Tamim H. Shaikh> ;Genome Medicine. 2012 Oct 30
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