Publications by authors named "Dorothy Grange"

111Publications

Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

JIMD Rep 2020 Nov 10;56(1):40-45. Epub 2020 Sep 10.

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

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November 2020

Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome.

JCI Insight 2020 Nov 10. Epub 2020 Nov 10.

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, United States of America.

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November 2020

Siblings with a novel MED12 variant and Odho syndrome with immune defects.

Clin Genet 2020 Sep 26;98(3):308-310. Epub 2020 Jul 26.

Department of Pediatrics, Division of Rheumatology/Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.

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September 2020

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.

Mol Genet Metab 2020 08 16;130(4):239-246. Epub 2020 Jun 16.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, 12605 E 16th St, Aurora, CO 80045, United States of America. Electronic address:

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August 2020

Three-dimensional facial morphology in Cantú syndrome.

Am J Med Genet A 2020 05 26;182(5):1041-1052. Epub 2020 Feb 26.

Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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May 2020

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Am J Med Genet A 2020 05 21;182(5):1053-1065. Epub 2020 Feb 21.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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May 2020

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 01 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

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January 2020

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Am J Med Genet C Semin Med Genet 2019 12;181(4):658-681

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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December 2019

Clinical and Pathological Features of a Newborn With Compound Heterozygous Variants.

Pediatr Dev Pathol 2020 May-Jun;23(3):235-239. Epub 2019 Oct 21.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

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October 2019

White and gray matter brain development in children and young adults with phenylketonuria.

Neuroimage Clin 2019 2;23:101916. Epub 2019 Jul 2.

Department of Psychological & Brain Sciences, Campus Box 1125, Washington University, St. Louis, MO, United States; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.

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August 2020

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Hum Genet 2019 Jun 8;138(6):625-634. Epub 2019 Apr 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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June 2019

Dichotomous roles of in the establishment of atrioventricular conduction pathways in the human heart.

HeartRhythm Case Rep 2019 Feb 20;5(2):109-111. Epub 2018 Nov 20.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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February 2019