TylerEReimschiselMD

PubMed

• 5 citations
  Heart Transplantation in Children with Mitochondrial Disease.
  Jeffrey G Weiner, Andrea N. Lambert, Cary Thurm, Matthew Hall, Jonathan H. Soslow, Tyler E. Reimschisel, David W. Bearl, Debra A. Dodd, Brian Feingold, Justin Godown> ;The Journal of Pediatrics. 2020 Feb 1
• 18 citations
  Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
  Daniel J. Pomerantz, Sacha Ferdinandusse, Joy D. Cogan, David Neil Cooper, Tyler Reimschisel, Amy Robertson, Anna Bican, Tracy L. McGregor, Jackie Gauthier, David S. M...> ;American Journal of Medical Genetics. Part A. 2018 Feb 1
• 47 citations
  Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
  Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St-Denis, Guoliang Chai, Norbert F. Ajeawung, Laura Fairbrother, Tyle...> ;American Journal of Human Genetics. 2017 Nov 2
• 1 citations
  Response to Newman et al.
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Oct 26
• 179 citations
  Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Jul 27
• 95 citations
  A systematic review of the published literature on team-based learning in health professions education
  Tyler Reimschisel, Anna L. Herring, Jennifer J. Huang, Tara J. Minor> ;Medical Teacher. 2017 Jun 30
• 14 citations
  Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
  John C. K. Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Stadheim, Claire L. S. Turner, Jacqu...> ;American Journal of Medical Genetics. Part A. 2015 Sep 1
• 30 citations
  Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse,...> ;Mitochondrion. 2014 Jan 1
• 22 citations
  Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis
  Christopher Fonnesbeck, Melissa L McPheeters, Shanthi Krishnaswami, Mary Louise Lindegren, Tyler Reimschisel> ;Journal of Inherited Metabolic Disease. 2013 Jun 4
• 8 citations
  Comprehensive assessment of serious adverse events following immunization by health care providers.
  S. Elizabeth Williams, Kathryn M. Edwards, Roger Baxter, Philip LaRussa, Neal A. Halsey, Cornelia L. Dekker, Claudia Vellozzi, Colin D. Marchant, Peter D. Donofrio, Ty...> ;The Journal of Pediatrics. 2013 Jun 1
• 20 citations
  A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
  Mary Lou Lindegren, Shanthi Krishnaswami, Tyler Reimschisel, Christopher Fonnesbeck, Nila A Sathe, Melissa L McPheeters> ;JIMD Reports. 2013 Jan 1
• 12 citations
  You too can teach clinical reasoning
  Amy Fleming, William B. Cutrer, Tyler Reimschisel, Joseph Gigante> ;Pediatrics. 2012 Nov 1
• 15 citations
  Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148
  Avinash V. Dharmadhikari, Sung Hae L. Kang, Przemyslaw Szafranski, Richard E. Person, Srirangan Sampath, Siddharth K. Prakash, Patricia I. Bader, John A. Phillips, Vic...> ;Human Molecular Genetics. 2012 Aug 1
• 46 citations
  Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
  Ian M. Campbell, Svetlana A. Yatsenko, Patricia Hixson, Tyler Reimschisel, Matthew J Thomas, William G. Wilson, Usha Dayal, James W. Wheless, Amy Crunk, Cynthia J. Cur...> ;Genetics in Medicine. 2012 Jun 21
• 40 citations
  Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
  Magdalena Bartnik, Katarzyna Derwińska, Monika Gos, Ewa Obersztyn, Katarzyna E. Kolodziejska, Ayelet Erez, Agnieszka Szpecht-Potocka, Ping Fang, Iwona Terczyńska, Hann...> ;Genetics in Medicine. 2011 May 1
• 84 citations
  Phenotypic manifestations of copy number variation in chromosome 16p13.11.
  Sandesh C.S. Nagamani, Ayelet Erez, Patricia I. Bader, Seema R. Lalani, Daryl A. Scott, Fernando Scaglia, Sharon E. Plon, Chun Hui Tsai, Tyler Reimschisel, Elizabeth R...> ;European Journal of Human Genetics. 2011 Mar 1
• 203 citations
  Detection of clinically relevant exonic copy‐number changes by array CGH
  Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson, Amber N. Pursley, Sung Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata Nowakowsk...> ;Human Mutation. 2010 Dec 1
• 45 citations
  Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
  Raphael Schiffmann, Rick A. Martin, Tyler Reimschisel, Karen C. Johnson, Victoria Castaneda, Y. Howard Lien, Gregory M. Pastores, Christoph Kampmann, Markus Ries, Joe ...> ;The Journal of Pediatrics. 2010 May 1
• 40 citations
  High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH
  Oleg A. Shchelochkov, Fangyuan Li, Michael T. Geraghty, Renata C. Gallagher, Johan L.K. Van Hove, Uta Lichter-Konecki, Paul M. Fernhoff, Sara Copeland, Tyler Reimschis...> ;Molecular Genetics and Metabolism. 2009 Mar 1
• 429 citations
  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
  Nicola Brunetti-Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan S...> ;Nature Genetics. 2008 Dec 1
• 64 citations
  Rapid comprehensive amino acid analysis by liquid chromatography/tandem mass spectrometry: comparison to cation exchange with post-column ninhydrin detection
  Dennis J. Dietzen, Annette L. Weindel, Mary O. Carayannopoulos, Michael Landt, Ellen T. Normansell, Tyler Reimschisel, Carl H. Smith> ;Rapid Communications in Mass Spectrometry. 2008 Nov 30
• 70 citations
  Impact of congenital talipes equinovarus etiology on treatment outcomes.
  Christina A. Gurnett, Stephanie Boehm, Anne M. Connolly, Tyler Reimschisel, Matthew B. Dobbs> ;Developmental Medicine and Child Neurology. 2008 Jul 1
• 31 citations
  American Academy of Neurology qualifications and guidelines for the physician expert witness
  Michael A. Williams, G. A. Mackin, Beresford Hr, James Gordon, P. L. Jacobson, M. P. Mcquillen, T. E. Reimschisel, R. M. Taylor, James L. Bernat, Matthew Rizzo, R. D. ...> ;Neurology. 2006 Jan 10
• 21 citations
  A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
  Jennifer A. Dunston, Tyler Reimschisel, Yu-Qiang Ding, Elizabeth Sweeney, Randy L. Johnson, Zhou-Feng Chen, Iain McIntosh> ;European Journal of Human Genetics. 2005 Mar 1
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