Publications by authors named "Erin Torti"

21Publications

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Am J Med Genet A 2019 09 11;179(9):1783-1790. Epub 2019 Jul 11.

Department of Pediatrics, Division of Genetic Medicine, University of Washington/Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61281DOI Listing
September 2019

Retinoic acid receptor beta variant-related colonic hypoganglionosis.

Am J Med Genet A 2019 05 20;179(5):817-821. Epub 2019 Feb 20.

Department of Surgery, Division of Pediatrics, Saint Louis University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.61078DOI Listing
May 2019

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.

Mol Syndromol 2016 May 14;7(2):80-6. Epub 2016 Apr 14.

Department of Pediatrics and Molecular Cytogenetics, SSM Health Cardinal Glennon Children's Hospital, St. Louis University School of Medicine, St. Louis, Mo., USA.

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http://dx.doi.org/10.1159/000445397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906423PMC
May 2016

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI Listing
September 2015

Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation.

Cytogenet Genome Res 2014 28;144(4):280-4. Epub 2015 Jan 28.

Departments of Pediatrics and Molecular Cytogenetics, SSM Cardinal Glennon Children's and Saint Louis University Medical Centers, Saint Louis, Mo., USA.

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http://dx.doi.org/10.1159/000371606DOI Listing
June 2015

An intragenic deletion of the gene MNAT1 in a family with pectus deformities.

Am J Med Genet A 2014 May 24;164A(5):1293-7. Epub 2014 Mar 24.

Department of Pediatrics, Genetics Division, Saint Louis University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36445DOI Listing
May 2014

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.

Am J Med Genet A 2013 Aug;161A(8):1992-8

Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35918DOI Listing
August 2013