Andrew R. Cullinane

National Institutes of Health — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index2.2kcitations36works0.02yr avg
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Research Topics

melanin and skin pigmentation(9), Autoimmune and Inflammatory Disorders Research(7), Genetic and Kidney Cyst Diseases(6), Renal and related cancers(6), Cellular transport and secretion(4)

Publications36 total

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
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Genetics in Medicine·2017· 129 citedOpen Access
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Journal of Medical Genetics·2017· 75 cited
<i>CELSR2</i>, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
American Journal of Medical Genetics Part A·2017· 38 citedOpen Access
Natural killer cell activity and dysfunction in Hermansky‐Pudlak syndrome
British Journal of Haematology·2016· 20 citedOpen Access
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism
Molecular Genetics and Metabolism·2016· 10 citedOpen Access
Griscelli Syndrome
Oxford University Press eBooks·2016
Neurologic involvement in patients with atypical Chediak-Higashi disease
Neurology·2016· 34 citedOpen Access
Cystic cerebellar dysplasia and biallelic <i>LAMA1</i> mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Journal of Medical Genetics·2016· 34 citedOpen Access
A clinical report of Chediak–Higashi syndrome in infancy with a novel genotype from the Indian subcontinent
International Journal of Dermatology·2015· 6 cited
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells
Journal of Allergy and Clinical Immunology·2015· 61 citedOpen Access
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
Molecular Genetics and Metabolism·2014· 106 citedOpen Access
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response
Orphanet Journal of Rare Diseases·2014· 6 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
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
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders
Experimental Cell Research·2013· 30 citedOpen Access
A Congenital Neutrophil Defect Syndrome Associated with Mutations in<i>VPS45</i>
New England Journal of Medicine·2013· 142 citedOpen Access
The <scp>BEACH</scp> Is Hot: A <scp>LYST</scp> of Emerging Roles for <scp>BEACH</scp>‐Domain Containing Proteins in Human Disease
Traffic·2013· 182 citedOpen Access
Molecular Genetics of Hermansky–Pudlak Syndrome
Encyclopedia of Life Sciences·2013· 5 cited
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Frequent Co-authors

William A. Gahl(21), Marjan Huizing(15), Paul Gissen(7), Heidi Dorward(7), Thierry Vilboux(6), Meral Gunay‐Aygun(6), Eamonn R. Maher(5), May Christine V. Malicdan(5), James C. Mullikin(5), Richard A. Hess(5), Déirdre Kelly(4), Anna Straatman-Iwanowska(4), A. S. Knisely(4), Ferenc Müller(4), Meghana Vemulapalli(4), James G. White(4), James A. Curry(4), Carmelo Carmona‐Rivera(4), Camilo Toro(4), Kevin O’Brien(4)