Heidi Dorward

National Institutes of Health — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index3.0kcitations39works0.02yr avg
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Research Topics

melanin and skin pigmentation(11), Autoimmune and Inflammatory Disorders Research(6), Cell Adhesion Molecules Research(5), Skin Protection and Aging(4), Biochemical Analysis and Sensing Techniques(4)

Publications39 total

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
Frontiers in Genetics·2023· 6 citedOpen Access
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome
Respiratory Research·2022· 6 citedOpen Access
Diagnosis of Chediak Higashi disease in a 67‐year old woman
American Journal of Medical Genetics Part A·2020· 6 cited
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
The American Journal of Human Genetics·2019· 94 citedOpen Access
Shortened Telomeres in Type II Alveolar Epithelial Cells in Hermansky-Pudlak Syndrome Pulmonary Fibrosis
2019
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
The American Journal of Human Genetics·2017Open Access
Neurologic involvement in patients with atypical Chediak-Higashi disease
Neurology·2017· 25 cited
Neurologic involvement in patients with atypical Chediak-Higashi disease
Neurology·2016· 34 citedOpen Access
In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer
Molecular Genetics and Metabolism·2014· 14 citedOpen Access
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria
Molecular Genetics and Metabolism Reports·2014· 7 citedOpen Access
Non‐specific accumulation of glycosphingolipids in GNE myopathy
Journal of Inherited Metabolic Disease·2013· 16 citedOpen Access
Dysregulation of Galectin-3. Implications for Hermansky-Pudlak Syndrome Pulmonary Fibrosis
American Journal of Respiratory Cell and Molecular Biology·2013· 48 cited
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene
Human Genetics·2013· 34 citedOpen Access
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy
Molecular Genetics and Metabolism·2012· 47 citedOpen Access
Galectin-3 Co-Localizes With EEA-1 In Type II Cells In Hermansky-Pudlak Syndrome Pulmonary Fibrosis
2012
Cellular and clinical report of new Griscelli syndrome type III cases
Pigment Cell & Melanoma Research·2011· 27 citedOpen Access
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
Nature Genetics·2011· 105 citedOpen Access
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
Nature Genetics·2011· 255 citedOpen Access
RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
The American Journal of Human Genetics·2011· 105 citedOpen Access
Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum
Molecular Genetics and Metabolism·2011· 115 citedOpen Access
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Frequent Co-authors

William A. Gahl(29), Marjan Huizing(25), Wendy Westbroek(10), Amanda Helip‐Wooley(10), Richard A. Hess(9), Carla Ciccone(8), Andrew R. Cullinane(7), Bernadette R. Gochuico(7), David R. Adams(6), May Christine V. Malicdan(6), Yair Anikster(5), James G. White(5), Kevin O’Brien(5), Raymond E. Boissy(5), Robert Kleta(4), Thomas C. Markello(4), Shira G. Ziegler(4), Camilo Toro(4), Wendy J. Introne(4), Lyn Gold(3)