Publications by authors named "Tyler Reimschisel"

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Heart Transplantation in Children with Mitochondrial Disease.
Jeffrey G Weiner, Andrea N Lambert, Cary Thurm, Matt Hall, Jonathan H Soslow, Tyler E Reimschisel

J Pediatr· February 2020

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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Daniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, David N Cooper, Tyler Reimschisel

Am J Med Genet A· March 2018

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A systematic review of the published literature on team-based learning in health professions education.
Tyler Reimschisel, Anna L Herring, Jennifer Huang, Tara J Minor

Med Teach· December 2017

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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, Tyler Reimschisel

Genet Med· December 2017

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Response to Newman et al.
Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Tyler Reimschisel

Genet Med· December 2017

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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, Tyler Reimschisel

Am J Hum Genet· November 2017

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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 L Lachlan, Tyler E Reimschisel

Am J Med Genet A· September 2015

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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, Tyler Reimschisel

Mitochondrion· January 2014

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Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.
Christopher J Fonnesbeck, Melissa L McPheeters, Shanthi Krishnaswami, Mary Louise Lindegren, Tyler Reimschisel

J Inherit Metab Dis· September 2013

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Comprehensive assessment of serious adverse events following immunization by health care providers.
S Elizabeth Williams, Kathryn M Edwards, Roger P Baxter, Philip S LaRussa, Neal A Halsey, Tyler E Reimschisel

J Pediatr· June 2013

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A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
Mary Lou Lindegren, Shanthi Krishnaswami, Tyler Reimschisel, Christopher Fonnesbeck, Nila A Sathe

JIMD Rep· February 2013

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You too can teach clinical reasoning!
Amy Fleming, William Cutrer, Tyler Reimschisel, Joseph Gigante

Pediatrics· November 2012

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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 Thomas

Genet Med· October 2012

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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, Tyler E Reimschisel

Hum Mol Genet· August 2012

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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 Kołodziejska, Tyler Reimschisel

Genet Med· May 2011

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Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, Seema R Lalani, Daryl A Scott, Tyler Reimschisel

Eur J Hum Genet· March 2011

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Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Tyler E Reimschisel

Hum Mutat· December 2010

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Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
Raphael Schiffmann, Rick A Martin, Tyler Reimschisel, Karen Johnson, Victoria Castaneda

J Pediatr· May 2010

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High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Oleg A Shchelochkov, Fang-Yuan Li, Michael T Geraghty, Renata C Gallagher, Johan L Van Hove, Tyler Reimschisel

Mol Genet Metab· March 2009

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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 Belmont, Carlos A Bacino, Tyler Reimschisel

Nat Genet· December 2008

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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 E Reimschisel

Rapid Commun Mass Spectrom· November 2008

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Impact of congenital talipes equinovarus etiology on treatment outcomes.
Christina A Gurnett, Stephanie Boehm, Anne Connolly, Tyler Reimschisel, Matthew B Dobbs

Dev Med Child Neurol· July 2008

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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

Eur J Hum Genet· March 2005

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