RobertLConwayMD

PubMed

• 1 citations
  Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.
  Kara B Pappas, Marissa Younan, Robert Conway> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
• 3 citations
  Thinking outside “The Box”: Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr
  Pedro A. Sanchez-Lara, Katheryn Grand, Maria K. Haanpää, Cynthia J. Curry, Raymond Y. Wang, Fatih Süheyl Ezgü, Catherine M Rose, Deepika D'Cunha Burkardt, Robert L. Co...> ;American Journal of Medical Genetics. Part A. 2021 Apr 29
• 11 citations
  Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
  Nicola Longo, George A. Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Robert L. Conway, Allison A. Bannick, Shawn E. McCandless, Roberto T. Zori...> ;Molecular Genetics and Metabolism. 2021 Jan 1
• Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.
  Allison Bannick, Sara K. Chase, Alyson Miner, Mary Seeterlin, Robert L. Conway> ;European Journal of Medical Genetics. 2020 Sep 24
• A 77-year-old Woman with a Right Cerebellar Lesion.
  Robert L. Conway, Vesna Kaluza, Kenneth A. Schwartz, Howard T. Chang> ;Brain Pathology. 2019 Jul 1
• 2 citations
  Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan
  Kuntal Sen, Michael D Felice, Allison Bannick, Roberto Colombo, Robert L. Conway> ;Journal of Pediatric Genetics. 2019 Mar 27
• 4 citations
  Risk Factors for Dysphagia Following a Cervical Fusion in a Trauma Population.
  Kathryn Cameron, Michael H Lawless, Robert L. Conway, Gijong Paik, Doris Tong, Teck M Soo, Peter P. Lopez> ;Cureus. 2018 Oct 24
• 30 citations
  Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
  Allison Jay, Robert L. Conway, Isabelle Thiffault, Carol J Saunders, Emily G. Farrow, John Adams, Helga V. Toriello> ;American Journal of Medical Genetics. Part A. 2016 Dec 1
• 120 citations
  PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
  Ghayda M. Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park,...> ;JCI Insight. 2016 Jun 16
• Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia
  Ying Liu, Alpa Sidhu, Lora J. H. Bean, Robert L. Conway, Judith L. Fridovich-Keil> ;Clinica Chimica Acta; International Journal of Clinical Chemistry. 2015 Jun 15
• 27 citations
  Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years
  Allison Jay, Robert L. Conway, Gerald L. Feldman, Fatimah A. Nahhas, Linda Spencer, Barry Wolf> ;Genetics in Medicine. 2015 Mar 1
• 15 citations
  Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
  Donna B. Raval, Melissa A. Merideth, Jennifer L. Sloan, Nancy Braverman, Robert L. Conway, Irini Manoli, Charles P. Venditti> ;Journal of Inherited Metabolic Disease. 2015 Jan 8
• 19 citations
  Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expres...
  H. Li, L. Spencer, Fatimah A. Nahhas, J. Miller, A. Fribley, Gerald L. Feldman, Robert L. Conway, Barry Wolf> ;Molecular Genetics and Metabolism. 2014 Jul 1
• 66 citations
  Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease
  Suhrad G. Banugaria, Sean N. Prater, Judeth K. McGann, Jonathan D. Feldman, Jesse A. Tannenbaum, Carrie Bailey, Renuka Gera, Robert L. Conway, David Viskochil, Joyce A...> ;Genetics in Medicine. 2013 Feb 1
• 501 citations
  De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
  Jean Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O'Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St-Onge, Jeremy Schwartzentruber, Karen W. Gripp...> ;Nature Genetics. 2012 Aug 1
• 25 citations
  Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
  Christian Thiel, Nina Rind, Diana Popovici, Georg F. Hoffmann, Kristen Hanson, Robert L. Conway, Craig R. Adamski, Elizabeth Butler, Rhonda Scanlon, Marie Lambert, Neo...> ;Human Mutation. 2012 Mar 1
• 123 citations
  Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overg...
  Ghayda M. Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman-Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham, W...> ;American Journal of Medical Genetics. Part A. 2012 Feb 1
• 27 citations
  An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.
  Areeg El-Gharbawy, Joanne Mackey, Stephanie DeArmey, Greg Westby, Sherry G. Grinnell, Peggy Malovrh, Robert L. Conway, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2011 Sep 1
• 84 citations
  Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients†
  , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2007 Dec 15
• A Patient With TCIRG1-Related Infantile Osteopetrosis Presenting With Congenital Anomalies : Chance Association or a Case for Pleiotropy?
  Robert L. Conway, Rena E. Falk> ;American Journal of Medical Genetics. Part A. 2007 Dec 15
• 155 citations
  Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
  Blake C. Ballif, Sara A Hornor, Elizabeth Jenkins, Suneeta Madan-Khetarpal, Urvashi Surti, Kelly E. Jackson, Alexander Asamoah, Pamela L. Brock, Gordon C. Gowans, Robe...> ;Nature Genetics. 2007 Sep 1
• 14 citations
  Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases.
  Robert L. Conway, Moise Danielpour, John M. Graham> ;Journal of Neurosurgery. 2007 Apr 1
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