Alan D. Irvine
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Engineering Computer Science
Alan D. Irvine's Degrees
- PhD Computer Science Stanford University
- Masters Electrical Engineering University of California, Berkeley
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(Suggest an Edit or Addition)Alan D. Irvine's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis (2006) (2650)
- Filaggrin mutations associated with skin and allergic diseases. (2011) (989)
- Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris (2006) (977)
- A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 (2010) (947)
- Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome (2000) (794)
- Filaggrin in the frontline: role in skin barrier function and disease (2009) (716)
- Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema (2007) (626)
- Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. (2006) (591)
- Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity (2012) (555)
- Atopic dermatitis (2018) (541)
- Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy (2011) (411)
- Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. (2009) (392)
- Filaggrin mutations, atopic eczema, hay fever, and asthma in children. (2008) (388)
- Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. (2001) (375)
- Filaggrin in atopic dermatitis. (2008) (372)
- Multi-ethnic genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis (2015) (356)
- The multifunctional role of filaggrin in allergic skin disease. (2013) (353)
- The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. (2008) (340)
- Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum. (2008) (297)
- Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting (2013) (264)
- Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. (2006) (255)
- Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity (2011) (254)
- Staphylococcus aureus and Atopic Dermatitis: A Complex and Evolving Relationship. (2017) (243)
- A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming (2009) (238)
- Skin microbiome before development of atopic dermatitis: Early colonization with commensal staphylococci at 2 months is associated with a lower risk of atopic dermatitis at 1 year (2017) (234)
- The microbiome in patients with atopic dermatitis (2018) (233)
- Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. (2006) (229)
- Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency (2012) (221)
- Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. (1998) (215)
- Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. (2007) (212)
- Skin barrier dysfunction measured by transepidermal water loss at 2 days and 2 months predates and predicts atopic dermatitis at 1 year (2015) (211)
- Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus (2010) (204)
- RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation (2013) (203)
- Atopic dermatitis (2020) (200)
- Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy (1997) (198)
- The atopic march and atopic multimorbidity: Many trajectories, many pathways (2019) (195)
- Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. (2002) (191)
- Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect (2011) (189)
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (2009) (183)
- A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis (2013) (179)
- The Immunomodulatory Metabolite Itaconate Modifies NLRP3 and Inhibits Inflammasome Activation (2020) (171)
- High-density genotyping study identifies four new susceptibility loci for atopic dermatitis (2013) (170)
- Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes. (2016) (159)
- Genetics (AAGC) (2015). Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. (2015) (157)
- Skin barrier impairment at birth predicts food allergy at 2 years of age. (2016) (154)
- Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. (2004) (154)
- Fleshing out filaggrin phenotypes. (2007) (151)
- Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation. (2015) (150)
- Harper's Textbook of Pediatric Dermatology (2011) (149)
- Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms (2015) (144)
- When does atopic dermatitis warrant systemic therapy? Recommendations from an expert panel of the International Eczema Council (2017) (138)
- An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (2003) (138)
- Raman profiles of the stratum corneum define 3 filaggrin genotype–determined atopic dermatitis endophenotypes (2010) (136)
- Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects (2013) (135)
- The Role of Filaggrin in Atopic Dermatitis and Allergic Disease. (2019) (134)
- Transcriptional regulator PRDM12 is essential for human pain perception (2015) (132)
- Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. (2017) (129)
- Clinical and genetic differences between pustular psoriasis subtypes (2018) (129)
- Filaggrin in atopic dermatitis. (2009) (120)
- Once-daily upadacitinib versus placebo in adolescents and adults with moderate-to-severe atopic dermatitis (Measure Up 1 and Measure Up 2): results from two replicate double-blind, randomised controlled phase 3 trials (2021) (120)
- Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. (2007) (116)
- Spontaneous atopic dermatitis is mediated by innate immunity, with the secondary lung inflammation of the atopic march requiring adaptive immunity (2016) (115)
- Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis (2014) (115)
- AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production (2016) (109)
- Gender- and Gestational Age–Specific Body Fat Percentage at Birth (2011) (108)
- Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin (2015) (106)
- IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis. (2015) (104)
- The role of filaggrin in the atopic diathesis (2010) (100)
- Recent advances in the pathobiology and management of Kasabach–Merritt phenomenon (2015) (96)
- Report from the National Institute of Allergy and Infectious Diseases workshop on “Atopic dermatitis and the atopic march: Mechanisms and interventions” (2019) (94)
- Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris. (2015) (87)
- Atopic eczema and the filaggrin story. (2008) (85)
- Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. (2008) (82)
- Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis (2015) (82)
- The exposome in atopic dermatitis (2019) (80)
- A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. (1998) (80)
- Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease (2014) (75)
- Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma (2012) (69)
- South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin (2014) (67)
- Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. (2009) (67)
- Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype (2011) (65)
- Clumping Factor B Promotes Adherence of Staphylococcus aureus to Corneocytes in Atopic Dermatitis (2017) (65)
- Cohort profile: The Cork BASELINE Birth Cohort Study: Babies after SCOPE: Evaluating the Longitudinal Impact on Neurological and Nutritional Endpoints. (2015) (64)
- Chromosome 11q13.5 variant associated with childhood eczema: An effect supplementary to filaggrin mutations (2010) (61)
- The Alopecia Areata Consensus of Experts (ACE) Study: Results of an International Expert Opinion on Treatments for Alopecia Areata. (2020) (61)
- Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (1999) (56)
- Vitamin D metabolite concentrations in umbilical cord blood serum and associations with clinical characteristics in a large prospective mother-infant cohort in Ireland (2017) (56)
- Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues (2007) (56)
- A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (2007) (55)
- Human and computational models of atopic dermatitis: A review and perspectives by an expert panel of the International Eczema Council (2018) (54)
- Filaggrin variants confer susceptibility to asthma. (2008) (54)
- The role of filaggrin loss-of-function mutations in atopic dermatitis (2008) (54)
- Adhesion of Staphylococcus aureus to Corneocytes from Atopic Dermatitis Patients Is Controlled by Natural Moisturizing Factor Levels (2018) (54)
- Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell‐related immunity and angiogenesis (2018) (52)
- Systemic therapies for severe atopic dermatitis in children and adults. (2013) (52)
- Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status (2013) (51)
- Juvenile localised scleroderma: a retrospective review of response to systemic treatment (2008) (49)
- The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab (2017) (47)
- Early‐life regional and temporal variation in filaggrin‐derived natural moisturizing factor, filaggrin‐processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis† (2018) (47)
- Global Allergy Forum and 3rd Davos Declaration 2015 (2016) (46)
- A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. (1997) (46)
- Filaggrin null alleles are not associated with psoriasis. (2007) (46)
- Management of difficult and severe eczema in childhood (2012) (46)
- Update on Epidemiology, Diagnosis, and Disease Course of Atopic Dermatitis. (2016) (45)
- Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation (2001) (45)
- Methodological Guidelines and Recommendations for Efficient and Rational Governance of Patient Registries (2015) (44)
- Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy (2011) (43)
- Systemic treatments in the management of atopic dermatitis: A systematic review and meta‐analysis (2020) (43)
- Newborn Transepidermal Water Loss Values: A Reference Dataset (2013) (42)
- Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. (1998) (41)
- Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. (2002) (41)
- Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges (2009) (39)
- Mathematical modeling of atopic dermatitis reveals “double‐switch” mechanisms underlying 4 common disease phenotypes (2017) (39)
- A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1 (1999) (38)
- Spontaneous atopic dermatitis in mice with a defective skin barrier is independent of ILC2 and mediated by IL‐1β (2019) (37)
- Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non‐Navajo patients (2003) (37)
- A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy (2002) (37)
- Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia (2011) (36)
- Neonatal adiposity increases the risk of atopic dermatitis during the first year of life. (2016) (35)
- Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations (2015) (35)
- Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. (2010) (33)
- Methotrexate for Severe Childhood Atopic Dermatitis: Clinical Experience in a Tertiary Center (2017) (32)
- Response to IL‐1‐Receptor Antagonist in a Child with Familial Cold Autoinflammatory Syndrome (2007) (31)
- Mediastinal and Neck Kaposiform Hemangioendothelioma: Report of Three Cases (2009) (31)
- siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy. (2014) (31)
- RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation (2019) (30)
- Cord blood leptin and gains in body weight and fat mass during infancy. (2016) (29)
- The widespread use of topical antimicrobials enriches for resistance in Staphylococcus aureus isolated from patients with atopic dermatitis† (2018) (29)
- Adherence with early infant feeding and complementary feeding guidelines in the Cork BASELINE Birth Cohort Study (2015) (29)
- Genotype–phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self‐healing collodion baby variants of lamellar ichthyosis (2010) (29)
- An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. (1996) (29)
- Hair on a gene string: recent advances in understanding the molecular genetics of hair loss (2001) (27)
- Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes. (2018) (26)
- Filaggrin expression and processing deficiencies impair corneocyte surface texture and stiffness in mice. (2020) (26)
- The Role of the Environment and Exposome in Atopic Dermatitis (2021) (26)
- Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome (2020) (26)
- Antenatal vitamin D exposure and childhood eczema, food allergy, asthma and allergic rhinitis at 2 and 5 years of age in the atopic disease‐specific Cork BASELINE Birth Cohort Study (2018) (25)
- The International TREatment of ATopic Eczema (TREAT) Registry Taskforce: An Initiative to Harmonize Data Collection across National Atopic Eczema Photo- and Systemic Therapy Registries. (2017) (25)
- Staphylococcus aureus binds to the N-terminal region of corneodesmosin to adhere to the stratum corneum in atopic dermatitis (2020) (24)
- Inherited defects in keratins. (2005) (24)
- Iron status, body size, and growth in the first 2 years of life (2018) (23)
- Heritable filaggrin disorders: the paradigm of atopic dermatitis. (2012) (23)
- A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. (1997) (23)
- Microscopic polyangiitis. Delineation of a cutaneous-limited variant associated with antimyeloperoxidase autoantibody. (1997) (22)
- PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients (2011) (22)
- TREatment of ATopic eczema (TREAT) Registry Taskforce: an international Delphi exercise to identify a core set of domains and domain items for national atopic eczema photo‐ and systemic therapy registries (2018) (22)
- TREatment of ATopic eczema (TREAT) Registry Taskforce: consensus on how and when to measure the core dataset for atopic eczema treatment research registries (2019) (21)
- Childhood eczema and the importance of the physical environment. (2013) (21)
- TREatment of ATopic eczema (TREAT) Registry Taskforce: protocol for an international Delphi exercise to identify a core set of domains and domain items for national atopic eczema registries (2017) (21)
- Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening (2017) (21)
- Impact of maternal, antenatal and birth-associated factors on iron stores at birth: data from a prospective maternal–infant birth cohort (2017) (21)
- Catalogue of inherited disorders found among the Irish Traveller population (2018) (19)
- Iron intakes and status of 2‐year‐old children in the Cork BASELINE Birth Cohort Study (2017) (19)
- Low vitamin D deficiency in Irish toddlers despite northerly latitude and a high prevalence of inadequate intakes (2018) (19)
- Successful Treatment of Florid Cutaneous Warts with Intravenous Cidofovir in an 11‐Year‐Old Girl (2008) (19)
- Antenatal Vitamin D Status Is Not Associated with Standard Neurodevelopmental Assessments at Age 5 Years in a Well-Characterized Prospective Maternal-Infant Cohort. (2018) (19)
- Too Much, Too Little or Just Enough: A Goldilocks Effect for IL-13 and Skin Barrier Regulation? (2016) (18)
- Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations (2014) (18)
- The Alopecia Areata Consensus of Experts (ACE) Study PART II: Results of an International Expert Opinion on Diagnosis and Laboratory Evaluation for Alopecia Areata. (2020) (18)
- Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. (1996) (17)
- Assessing the New and Emerging Treatments for Atopic Dermatitis. (2016) (17)
- Successful treatment of a refractory verruca in a child with acute lymphoblastic leukaemia with topical cidofovir (2005) (17)
- Next-generation anti-Staphylococcus aureus vaccines: A potential new therapeutic option for atopic dermatitis? (2019) (17)
- Erratum: The draft genome of the grass carp (Ctenopharyngodon idellus) provides insights into its evolution and vegetarian adaptation (2015) (16)
- Genetics and Genodermatoses (2010) (15)
- A pilot study of burnout and long covid in senior specialist doctors (2021) (14)
- Multiple dermatofibromas in a patient with HIV infection (1995) (14)
- SVEP1 plays a crucial role in epidermal differentiation (2017) (13)
- Antimicrobial resistance in atopic dermatitis: Need for an urgent rethink. (2019) (13)
- Ocular Surface Reconstruction in LOGIC Syndrome by Amniotic Membrane Transplantation (2001) (13)
- International collaboration and rapid harmonization across dermatologic COVID-19 registries (2020) (13)
- Topical corticosteroids normalize both skin and systemic inflammatory markers in infant atopic dermatitis (2020) (12)
- Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema. (2013) (12)
- Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin (2012) (12)
- Molecular genetics of the inherited disorders of cornification: an update. (2002) (12)
- Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients (2021) (12)
- A randomized controlled trial protocol assessing the effectiveness, safety and cost‐effectiveness of methotrexate vs. ciclosporin in the treatment of severe atopic eczema in children: the TREatment of severe Atopic eczema Trial (TREAT) (2018) (11)
- Four childhood atopic dermatitis subtypes identified from trajectory and severity of disease and internally validated in a large UK birth cohort (2021) (11)
- Review of Critical Issues in the Pathogenesis of Atopic Dermatitis. (2016) (11)
- Possibilities for human skin characterization based on strongly reduced Raman spectroscopic information (2013) (11)
- Generalized lymphatic anomaly successfully treated with long‐term, low‐dose sirolimus (2018) (11)
- A mathematical model to identify optimal combinations of drug targets for dupilumab poor responders in atopic dermatitis (2021) (10)
- TREatment of ATopic eczema (TREAT) Registry Taskforce: protocol for a European safety study of dupilumab and other systemic therapies in patients with atopic eczema (2020) (10)
- Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants (2022) (10)
- 'Peeling paint' dermatitis as a presenting sign of cystic fibrosis. (2006) (10)
- Optimization of placebo use in clinical trials with systemic treatments for atopic dermatitis: an International Eczema Council survey‐based position statement (2019) (9)
- Crossing barriers; restoring barriers? Filaggrin protein replacement takes a bow. (2014) (9)
- A Global eDelphi Exercise to Identify Core Domains and Domain Items for the Development of a Global Registry of Alopecia Areata Disease Severity and Treatment Safety (GRASS). (2021) (9)
- Harper's Textbook of Pediatric Dermatology: Irvine/Harper's Textbook of Pediatric Dermatology (2011) (9)
- The impact of short‐term predominate breastfeeding on cognitive outcome at 5 years (2020) (9)
- Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort (2009) (8)
- Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4 (2019) (8)
- Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients (2019) (8)
- Body Composition within the First 3 Months: Optimized Correction for Length and Correlation with BMI at 2 Years (2016) (8)
- Kaposi sarcoma in an patient with atopic dermatitis treated with ciclosporin (2013) (7)
- Behavioral consequences at 5 y of neonatal iron deficiency in a low-risk maternal-infant cohort. (2021) (7)
- The value of a baseline liver biopsy prior to methotrexate treatment (1994) (7)
- A Review of Safety Outcomes from Clinical Trials of Baricitinib in Rheumatology, Dermatology and COVID-19 (2022) (7)
- Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita. (2012) (7)
- Genetics of Hidradenitis Suppurativa (2006) (7)
- Microcytosis is associated with low cognitive outcomes in healthy 2-year-olds in a high-resource setting (2017) (7)
- Expert Perspectives on Key Parameters that Impact Interpretation of Randomized Clinical Trials in Moderate-to-Severe Atopic Dermatitis (2021) (6)
- An integrated analysis of herpes virus infections from eight randomized clinical studies of baricitinib in adults with moderate‐to‐severe atopic dermatitis (2022) (6)
- Early initiation of short‐term emollient use for the prevention of atopic dermatitis in high‐risk infants—The STOP‐AD randomised controlled trial (2022) (6)
- Topical therapy of atopic dermatitis with a focus on pimecrolimus (2021) (6)
- Variation in iodine food composition data has a major impact on estimates of iodine intake in young children (2018) (6)
- Correlation of Insulin-Like Growth Factor-I and -II Concentrations at Birth Measured by Mass Spectrometry and Growth from Birth to Two Months (2018) (6)
- Shedding light on therapeutics in alopecia and their relevance to COVID-19 (2020) (5)
- Use of systemic corticosteroids for atopic dermatitis: International Eczema Council consensus statement (2018) (5)
- Dermatology COVID-19 Registries (2021) (5)
- High‐dose bilastine for the treatment of BASCULE syndrome (2020) (5)
- Learning from disease registries during a pandemic: Moving toward an international federation of patient registries (2021) (5)
- Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model (2014) (5)
- Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu (2022) (5)
- Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa (2008) (5)
- Spontaneous regression of cutaneous metastases of squamous cell carcinoma. (2014) (5)
- In-vivo Raman spectroscopy discriminates between FLG loss-of-function carriers vs. wild-type in day 1-4 neonates. (2020) (5)
- Atopic Dermatitis According to GARP: New Mechanistic Insights in Disease Pathogenesis. (2016) (4)
- DOCK8 primary immunodeficiency syndrome (2015) (4)
- Safety of upadacitinib in moderate-to-severe atopic dermatitis: An integrated analysis of phase 3 studies. (2022) (4)
- The relationship between IGF-I and –II concentrations and body composition at birth and over the first two months (2019) (4)
- Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis (2020) (4)
- Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash (2012) (4)
- Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann corneal dystrophy (1997) (4)
- Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network (2021) (4)
- Persistent pruritic subcutaneous nodules at injection sites and other delayed type hypersensitivity reactions to aluminium adsorbed vaccines in Irish children: A case series (2020) (4)
- The NLRP3 inhibitor MCC950 inhibits IL-1β production in PBMC from 19 patients with Cryopyrin-Associated Periodic Syndrome and in 2 patients with Schnitzler’s Syndrome (2020) (4)
- Dupilumab Provides Significant Clinical Benefit in a Phase 3 Trial in Adolescents with Uncontrolled Atopic Dermatitis Irrespective of Prior Systemic Immunosuppressant Use (2021) (4)
- Tralokinumab treatment improves the skin microbiota by increasing the microbial diversity in adults with moderate-to-severe atopic dermatitis: Analysis of microbial diversity in ECZTRA 1, a randomized controlled trial. (2022) (3)
- The widespread use of topical antimicrobials enriches for resistance in Staphylococcus aureus isolated from Atopic Dermatitis patients (2018) (3)
- Protocol for a prospective, observational, longitudinal study in paediatric patients with moderate-to-severe atopic dermatitis (PEDISTAD): study objectives, design and methodology (2020) (3)
- Heritable Filaggrin Disorders: The Paradigm of Atopic Dermatitis. (2012) (3)
- Biallelic variants in RNU12 cause CDAGS syndrome (2021) (3)
- Topical cidofovir for the treatment of recalcitrant viral warts and molluscum contagiosum in Jacobsen syndrome (2020) (3)
- The TREatment of severe Atopic eczema Trial (TREAT) (2018) (3)
- Syndromes with Premature Ageing (2016) (3)
- A longitudinal study of skin barrier function in pregnancy and the postnatal period (2014) (3)
- Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations * (2020) (3)
- Management of vascular birthmarks: review of a multidisciplinary clinic. (2007) (3)
- Disorders of Cornification (Ichthyosis) (2008) (2)
- Body Composition at Birth; Normative Values (2011) (2)
- Analysis of the individual and aggregate genetic contributions of previously identified SPINK 5 , KLK 7 and FLG polymorphisms to eczema risk (2015) (2)
- Genetics of Atopic Eczema (2009) (2)
- Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (2009) (2)
- Carney Complex Response (1999) (2)
- Disease Characteristics, Comorbidities, Treatment Patterns and Quality of Life Impact in Children <12 Years Old with Atopic Dermatitis: Interim Results from the PEDISTAD Real-World Registry. (2022) (2)
- Vitamin D supplementation practice in Ireland: data from the Cork baseline birth cohort study (2013) (2)
- PLACK syndrome resulting from a novel homozygous variant in CAST (2020) (2)
- New Treatment Paradigms in Atopic Dermatitis: Understanding and Incorporating Recent and Emerging Therapies (2016) (2)
- Kasabach–Merritt syndrome, kaposiform haemangioendothelioma and platelet blockade (2015) (2)
- Inherited disorders of keratinization (2002) (2)
- Two Phase 3 Trials of Lebrikizumab for Moderate-to-Severe Atopic Dermatitis. (2023) (2)
- Skin involvement in Down syndrome transient abnormal myelopoiesis (2012) (2)
- Comparison of real-world treatment outcomes of systemic immunomodulating therapy in atopic dermatitis patients with dark and light skin types (2022) (2)
- Vitamin D intakes and dietary sources in children aged 2 yrs in the Cork BASELINE Birth Cohort Study (2013) (2)
- A case of congenital solitary Langerhans cell histiocytoma (2011) (2)
- The Changing Paradigm of Atopic Dermatitis Therapy. (2016) (2)
- Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception (2015) (1)
- A case of haemophagocytic lymphohistiocytosis: role of skin biopsy in the diagnosis (2010) (1)
- Filaggrin Null Alleles Are Not Associated with (2007) (1)
- Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis. (2020) (1)
- Early feeding and weaning in Irish infants in the Cork baseline birth cohort study (2012) (1)
- Diseases of the epidermis and appendages, skin pigmentation and skin cancer (2008) (1)
- Parental atopy and risk of atopic dermatitis in the first two years of life in the BASELINE birth cohort study (2022) (1)
- Response to “Dental Caries as a Side Effect of Infantile Hemangioma Treatment with Propranolol Solution” (2011) (1)
- Response to "Comment on: 'When does atopic dermatitis warrant systemic therapy? Recommendations from an expert panel of the International Eczema Council'". (2018) (1)
- A Longitudinal Cohort Study of Transepidermal Water Loss in the First Six Months of Life as a Predictor of Subsequent Atopic Dermatitis (2011) (1)
- The Application of Data Mining to Predict the Occurrence of Short-Term Adverse Events in NB-UVB Phototherapy Treatments (2018) (1)
- Low prevalence of vitamin D deficiency in Irish preschoolers despite northerly latitude and high prevalence of inadequate intakes (2016) (1)
- Use of Systemic Corticosteroids in Management of a Large Congenital Haemangioma of the Scalp (2013) (1)
- O06: A randomized controlled trial assessing the effectiveness and safety of ciclosporin vs. methotrexate in the treatment of severe atopic eczema in children and young people: the TREatment of severe Atopic eczema Trial (TREAT) (2022) (1)
- 476 Skin microbiome alterations in infants before clinical atopic dermatitis (2016) (1)
- Common Skin Diseases (2019) (1)
- Rapidly Involuting Congenital Hemangioma with Pustules: Two Cases (2014) (1)
- FOXN1 Duplication and Congenital Hypertrichosis (2017) (1)
- Sweet syndrome revealing systemic lupus erythematosus. (2015) (1)
- O08 - Increased early life Transepidermal Water Loss (TEWL) values can predate atopic dermatitis in asymptomatic infants: results from the BASELINE study (2014) (1)
- Environmental factors have a profound effect on disease severity in skin barrier deficiency and eczema (2013) (1)
- Efficacy and Safety of Dupilumab in Patients With Erythrodermic Atopic Dermatitis (2023) (1)
- Alpelisib (ALP), a breast cancer therapy, for PIK3CA-related overgrowth spectrum (PROS): A real-world data approach to a rare disease indication. (2022) (1)
- Skin Barrier Impairment during Early Infancy Precedes Sensitization to Respiratory Allergens at 5 Years of Age (2017) (1)
- The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations. (2022) (1)
- Deletion of the LCE3B and LCE3C Genes on 1q21 is not Associated with Atopic Dermatitis (2009) (1)
- P322 Common things are common, except when they’re rare (2019) (1)
- The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas. (2022) (1)
- PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype (2022) (1)
- Psoriasis shows no association with filaggrin-null alleles (2007) (1)
- Hair Loss: Genetics (2006) (0)
- Correlation of Neonatal Skin Barrier Function with Family Atopy Profile (2010) (0)
- Increasing Testicular Size due to Bilateral Large Cell Calcifying Sertoli Cell Tumours in a Peri-Pubertal Child with Carney Complex (2014) (0)
- Novel mutations in SPINK5 encoding a serine-protease inhibitor in Netherton syndrome, a severe congenital ichthyosis with hair abnormalities and atopic manifestations (2000) (0)
- A Longitudinal Cohort Study of Transepidermal Water Loss in the First Six Months of Life as a Predictor of Atopic Dermatitis (2011) (0)
- Congenital-infantile fibrosarcoma of the foot--avoidance of amputation. (2014) (0)
- Efficacy and safety of dupilumab in adults with moderate-to-severe atopic dermatitis and a history of nonsteroidal immunosuppressant use: a post hoc analysis of the phase III CAFE trial (2019) (0)
- No association between food allergens in the complementary feeding diet and eczema during the first 12-months in the Cork BASELINE Birth Cohort (2015) (0)
- Homozygous delayed initiation codon mutation in the laminin A3A isoform causes LOC syndrome (2003) (0)
- The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations (2023) (0)
- Descriptive analysis of weaning practices and eczema prevalence in Irish infants in the Cork BASELINE birth cohort study (2011) (0)
- EXPERIENCE WITH AZATHIOPRINE IN A CHILDHOOD POPULATION WITH SEVERE ATOPIC ECZEMA OVER AN EIGHT YEAR PERIOD (2008) (0)
- Meesmann's corneal dystrophy is caused by mutations in cornea-specific keratins (1997) (0)
- Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1 (2013) (0)
- University of Dundee Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes Lovgren, (2017) (0)
- Early-life vitamin D status and bone mass at five years in a prospective birth cohort study (2017) (0)
- Irish neurological association (1993) (0)
- Irish neurological association (1993) (0)
- Early nutrition and eczema during infancy: 1757 (2014) (0)
- O10: National Merkel cell carcinoma epidemiology and mortality‐related risk factors in England 2004–2018 (2022) (0)
- Stratum corneum in early life (2018) (0)
- Faculty Opinions recommendation of Skin-derived TSLP triggers progression from epidermal-barrier defects to asthma. (2009) (0)
- P86: Clinical benefit of baricitinib treatment for moderate‐to‐severe atopic dermatitis in combination with topical corticosteroids: a post hoc analysis of the BREEZE‐AD7 and BREEZE‐AD4 phase III trials (2022) (0)
- British Society for Paediatric Dermatology (2014) (0)
- An epidemiological and genetic study of epidermolytic palmoplantar keratoderma in northern Ireland (1998) (0)
- P40: Positive indirect immunofluorescence pemphigoid antibodies: a clinicopathological analysis (2021) (0)
- Access to Genetic Diagnostics for Genodermatoses: Who Should Get Tested? Why? Who Pays? (2017) (0)
- 12th Annual Scientific Meeting of the Irish Society of Human Genetics, Friday 18th September 2009 (2010) (0)
- P85: Bimekizumab response is maintained through 2 years of treatment in patients with moderate‐to‐severe plaque psoriasis who responded after 16 weeks: results from the open‐label extension of BE RADIANT (2022) (0)
- OUR EXPERIENCE WITH ORAL ITRACONAZOLE IN THE MANAGEMENT OF CHILDHOOD TINEA CAPITIS OVER A 2 YEAR PERIOD (2008) (0)
- Meesmann's corneal dystrophy is caused by dominant negative mutations in cornea-specific keratins K3 or K12. (1997) (0)
- N-terminal deletion of laminin A3A isoform causes the chronic granulation tissue disorder LOC syndrome. (2003) (0)
- 413 Newborn Body Composition on Day Two of Life Measured Using Airdisplacement Body Plethysmography (2010) (0)
- Population prevalence and mutation detection in epidermolytic palmoplantar keratoderma (1998) (0)
- Early Life Transepidermal Water Loss (TEWL) Values Can Predate Atopic Dermatitis At Six and Twelve Months in Asymptomatic Infants: Results From the Baseline Study (2013) (0)
- Risk factors for distant metastasis in cutaneous squamous cell carcinoma (2022) (0)
- 340 Dupilumab treatment of children with moderate-to-severe atopic dermatitis increases bone alkaline phosphatase, a marker of bone mineralization (2023) (0)
- International Collaboration and Rapid Harmonization across Dermatologic COVID-19 Registries: Supplemental Appendix (2020) (0)
- Infants with loss of function filaggrin mutations show augmented response to early life, short term skin barrier protection compared to filaggrin wild type infants; results from the STOP-AD trial. (2023) (0)
- Peripheral Blood Gene Expression Profile of Infants with Atopic Dermatitis (2022) (0)
- Nottingham Eczema Severity Scoring tool can identify children at high risk of food allergy to cow’s milk, egg and peanut (2015) (0)
- Topical antimicrobial resistance in S. aureus from patients with AD (2018) (0)
- The Fetal Growth Restricted Baby: Definition and Outcome (2011) (0)
- Model-Based Meta-Analysis to Optimize Staphylococcus aureus‒Targeted Therapies for Atopic Dermatitis (2022) (0)
- Mutations in the p63 gene and genotype-phenotype correlation in ectodermal dysplasia syndromes (2004) (0)
- O05: ‘A raised P3NP is a matter of time’: replacing P3NP with FIB‐4 for monitoring of methotrexate‐related liver fibrosis (2022) (0)
- Human and computational models of atopic dermatitis (2018) (0)
- Modulating mechanical cues and oxygen availability to regulate chondrogenesis within MSC laden hydrogels (2017) (0)
- Long-lasting behavioural consequences of neonatal iron deficiency in high-risk children (2020) (0)
- C3-C4 shingles post haematopoietic stem-cell transplantation (2014) (0)
- Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma (2012) (0)
- 27431 Dupilumab treatment improves health-related quality of life in children aged ≥6 to <12 years with severe atopic dermatitis (2021) (0)
- 27000 The real-world burden of atopic dermatitis—Initial results from a multicountry study (2021) (0)
- TREatment of ATopic eczema (TREAT) Registry Taskforce: method for comparing the safety of dupilumab with other systemic therapies for moderate‐to‐severe eczema (2020) (0)
- Consensus on measurement of core dataset for AE treatment research registries (2019) (0)
- Single-molecule transcriptomics of atopic eczema in human skin (2012) (0)
- Fibrous histiocytoma in a nine week old male infant. (2001) (0)
- 178 Effect of Dupilumab on Global Individual Signs Score Outcomes in Adults With Moderate-to-Severe Atopic Dermatitis: Combined Results From Four Phase 3 Trials (2019) (0)
- 757 MiRNA signature in atopic dermatitis (2018) (0)
- ASQ-3 and BSID-III's concurrent validity and predictive ability of cognitive outcome at 5 years. (2023) (0)
- Early improvements in signs and symptoms predict clinical response to baricitinib in patients with moderate-to-severe atopic dermatitis. (2023) (0)
- A nonsense mutation in the mattrin gene causes the matted mouse phenotype and is a predisposing gene for atopic dermatitis in humans (2013) (0)
- Point mutations in the 1A domain (N114) of hair keratin hHb6 in monilethrix patients: A new hotspot for mutations? (1999) (0)
- TREAT eDelphi exercise for AE photo‐ and systemic therapy registries (2019) (0)
- Ectodermal Dysplasias (2019) (0)
- Reply to correspondence “Food allergens to emollients” (2023) (0)
- 28th Annual Meeting of the British Society for Paediatric Dermatology, London, 8–9 November 2013 (2014) (0)
- Skin: Hereditary Disorders (2006) (0)
- Stratum corneum and systemic biomarkers in infantile AD (2019) (0)
- Early Skin Inflammatory Biomarker is Predictive of Development and Persistence of Atopic Dermatitis in Infants up to 12m of age (2023) (0)
- Molecular basis of Hay-Wells (AEC) syndrome: Heterozygous germline missense mutations in the sterile-alpha-motif (SAM) domain of the p63 gene (2000) (0)
- Clinicopathological Cases: Summaries of Papers (2008) (0)
- Genome-wide comparative analysis of atopic eczema and psoriasis gives insight into disease mechanisms (2014) (0)
- Dupilumab improves patient-reported symptoms and health-related quality of life in children aged 6-11 years with severe atopic dermatitis. (2023) (0)
- a genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis : p120 (2014) (0)
- Novel mixed-method, inclusive protocol involving global key stakeholders, including carers as experts, to co-develop relevant Caregiver-Reported Outcome Domains (CRODs) in skin disease (2023) (0)
- Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype (1999) (0)
- Efficacy and Safety of Upadacitinib Treatment in Adolescents With Moderate-to-Severe Atopic Dermatitis: Analysis of the Measure Up 1, Measure Up 2, and AD Up Randomized Clinical Trials. (2023) (0)
- Blue Rubber Bleb Nevus ( BRBN ) Syndrome is caused by Somatic TEK ( TIE 2 ) Mutations Short title : BRBN caused by somatic TEK mutations (2016) (0)
- 3rd Pediatric Allergy and Asthma Meeting (PAAM). (2014) (0)
- H22: Beyond the pale: mercury as a cosmeceutical and skin medicament through the ages (2022) (0)
- 幼儿的角质层 (2018) (0)
- 27082 Upadacitinib in moderate-to-severe atopic dermatitis: Combined safety analysis of phase 3 studies (Measure Up 1, Measure Up 2, and AD Up) (2021) (0)
- Transcriptome analysis of skin reveals differences between atopic eczema cases stratified for filaggrin genotype (2012) (0)
- Faculty Opinions recommendation of In vivo blockade of OX40 ligand inhibits thymic stromal lymphopoietin driven atopic inflammation. (2008) (0)
- Oral 2 Visceral kaposiform haemangioendothelioma: report of three cases (2006) (0)
- Maternal, antenatal and birth-associated determinants of neonatal iron stores (2016) (0)
- Evolution of Skin Barrier Function in the First Year of Life (2011) (0)
- Safety profile of upadacitinib over 15 000 patient-years across rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis and atopic dermatitis (2023) (0)
- Role of Filaggrin Mutations in Human Disease and Allergic Sensitization (2013) (0)
- Strategy for neonatal discrimination between Filaggrin-wildtype neonates and Fillagrin loss of function mutation carriers for the purpose of preventative AD-treatment (2023) (0)
- Study protocol: assessing SleeP IN infants with early-onset atopic Dermatitis by Longitudinal Evaluation (The SPINDLE study) (2022) (0)
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