A. Cullinane

发表

The BEACH Is Hot: A LYST of Emerging Roles for BEACH‐Domain Containing Proteins in Human Disease

A. Schäffer, M. Huizing, A. Cullinane, 2013, Traffic.

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response

M. Somerman, B. Foster, F. Nociti, 2014, Orphanet Journal of Rare Diseases.

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.

Kevin J. O'Brien, W. Gahl, M. Huizing, 2014, American journal of respiratory cell and molecular biology.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth

P. Gissen, A. Cullinane, D. Taha, 2007, American journal of medical genetics. Part A.

Natural killer cell activity and dysfunction in Hermansky‐Pudlak syndrome

J. Coligan, W. Gahl, G. Peruzzi, 2017, British journal of haematology.

A BLOC‐1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky–Pudlak Syndrome type 8

W. Gahl, M. Huizing, G. Golas, 2012, Pigment cell & melanoma research.

A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

C. Summers, W. Gahl, M. Huizing, 2011, American journal of human genetics.

Molecular Genetics of Hermansky–Pudlak Syndrome

W. Gahl, M. Huizing, A. Cullinane, 2013 .

A congenital neutrophil defect syndrome associated with mutations in VPS45.

J. Mullikin, S. Polak‐Charcon, I. Barshack, 2013, The New England journal of medicine.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

C. Toro, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

J. Mullikin, I. Glass, Nisc Comparative Sequencing Program, 2017, Genetics in Medicine.

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

J. Coligan, W. Gahl, G. Peruzzi, 2016, The Journal of allergy and clinical immunology.

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

S. Watson, C. Baumann, J. Klumperman, 2012, Human mutation.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

H. Mandel, F. Müller, F. Rahman, 2010, Nature Genetics.

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome

R. Sougrat, H. Mandel, D. Chitayat, 2009, Human mutation.

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

K. Krzewski, A. Cullinane, 2013, Experimental cell research.

Chediak‐Higashi syndrome presenting as young‐onset levodopa‐responsive parkinsonism

C. Lungu, C. Toro, W. Introne, 2013, Movement disorders : official journal of the Movement Disorder Society.

Neurologic involvement in patients with atypical Chediak-Higashi disease

D. Adams, C. Toro, W. Gahl, 2016, Neurology.

A clinical report of Chediak–Higashi syndrome in infancy with a novel genotype from the Indian subcontinent

S. Kapoor, W. Gahl, N. Khurana, 2016, International journal of dermatology.

Cellular and clinical report of new Griscelli syndrome type III cases

W. Gahl, W. Westbroek, M. Huizing, 2012, Pigment cell & melanoma research.

Neurologic involvement in patients with atypical Chediak-Higashi disease

A. Cullinane, 2017, Neurology.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

J. Mullikin, C. Toro, W. Gahl, 2016, Journal of Medical Genetics.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

J. Mullikin, T. Huisman, N. Aygun, 2017, Journal of Medical Genetics.

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Carla Ciccone, William A. Gahl, Marjan Huizing, 2011, The Journal of investigative dermatology.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Colin A. Johnson, K. Gull, A. Copp, 2007, Human molecular genetics.

Characterisation of the role of VPS33B in Vesicular trafficking in polarised Epithelial cells

A. Cullinane, 2009 .

The BLOS1‐Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome‐Related Organelles

Zhe Zhang, W. Gahl, M. Huizing, 2012, Traffic.

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

W. Gahl, M. Huizing, H. Dorward, 2015, Molecular genetics and metabolism.

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

J. Mullikin, W. Gahl, W. Zein, 2016, Molecular genetics and metabolism.

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

W. Gahl, M. Gunay‐Aygun, J. Stephen, 2017, American journal of medical genetics. Part A.

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

W. Gahl, M. Huizing, H. Dorward, 2013, Human Genetics.

Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

H. Mandel, F. Müller, F. Rahman, 2011, Nature Genetics.

Common variants in DGKK are strongly associated with risk of hypospadias

L. Kiemeney, B. Franke, J. Veltman, 2011, Nature Genetics.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

Cellular and clinical report of new Griscelli syndrome type III cases

W. Gahl, W. Westbroek, M. Huizing, 2012, Pigment Cell & Melanoma Research.