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193 PR articles • 17,381 PR citations • Sorted by year • Download PDF (PDF by citations)
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1International consensus on methotrexate dosing for patients with atopic dermatitis: An <scp>eDelphi</scp> study2.34Citations (PDF)
2Treat‐to‐target in dermatology: A scoping review and International Eczema Council survey on the approach in atopic dermatitis2.313Citations (PDF)
3<scp>Real‐world</scp> clinical, psychosocial and economic burden of atopic dermatitis: Results from a multicountry study2.350Citations (PDF)
4Living with a rare disease: a patient perspective of life with trimethylaminuria1.20Citations (PDF)
5Impact of climate change on atopic dermatitis: A review by the International Eczema Council9.533Citations (PDF)
6Preclinical Atopic Dermatitis Skin in Infants: An Emerging Research Area2.37Citations (PDF)
7Lin<sup>−</sup>CD117<sup>+</sup>CD34<sup>+</sup>FcεRI<sup>+</sup> progenitor cells are increased in chronic spontaneous urticaria and predict clinical responsiveness to anti‐<scp>IgE</scp> therapy9.56Citations (PDF)
8Navigating the evolving landscape of atopic dermatitis: Challenges and future opportunities: The 4th Davos declaration9.523Citations (PDF)
9An expert consensus on managing dupilumab-related ocular surface disorders in people with atopic dermatitis 2024
British Journal of Dermatology, 2024, 191, 865-885
1.819Citations (PDF)
10Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Journal of Medical Genetics, 2023, 60, 163-173
3.931Citations (PDF)
11Early initiation of short‐term emollient use for the prevention of atopic dermatitis in high‐risk infants—The STOP‐AD randomised controlled trial9.581Citations (PDF)
12Peripheral Blood Gene Expression Profile of Infants with Atopic Dermatitis
JID Innovations, 2023, 3, 100165
2.89Citations (PDF)
13Novel mixed-method, inclusive protocol involving global key stakeholders, including carers as experts, to co-develop relevant Caregiver-Reported Outcome Domains (CRODs) in skin disease
BMJ Open, 2023, 13, e068893
2.03Citations (PDF)
14Early improvements in signs and symptoms predict clinical response to baricitinib in patients with moderate-to-severe atopic dermatitis1.25Citations (PDF)
15Dupilumab improves patient-reported symptoms and health-related quality of life in children aged 6–11 years with severe atopic dermatitis
British Journal of Dermatology, 2023, 189, 238-240
1.82Citations (PDF)
16Methotrexate for inflammatory skin disease in pediatric patients: Consensus treatment guidelines
Pediatric Dermatology, 2023, 40, 789-808
1.122Citations (PDF)
17A real‐world retrospective observational study exploring resource use for secondary care management of moderate‐to‐severe atopic dermatitis in children and adolescents at a single site in Ireland
JEADV Clinical Practice, 2023, 2, 465-478
0.50Citations (PDF)
18Early emollient bathing is associated with subsequent atopic dermatitis in an unselected birth cohort study2.86Citations (PDF)
19European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation13.995Citations (PDF)
20‘Guidelines are not the issue, access to support and advice is the problem’: a cross-sectional survey of general practitioners referring to paediatric dermatology1.20Citations (PDF)
21A mathematical model to identify optimal combinations of drug targets for dupilumab poor responders in atopic dermatitis9.526Citations (PDF)
22Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu
British Journal of Dermatology, 2022, 186, 988-996
1.817Citations (PDF)
23Disease characteristics, comorbidities, treatment patterns and quality of life impact in children &lt;12 years old with atopic dermatitis: Interim results from the PEDISTAD Real-World Registry1.917Citations (PDF)
24Model-Based Meta-Analysis to Optimize Staphylococcus aureus‒Targeted Therapies for Atopic Dermatitis
JID Innovations, 2022, 2, 100110
2.811Citations (PDF)
25Risk factors for distant metastasis in cutaneous squamous cell carcinoma
British Journal of Dermatology, 2022, 187, 435-436
1.810Citations (PDF)
26The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas1.67Citations (PDF)
27Parental atopy and risk of atopic dermatitis in the first two years of life in the BASELINE birth cohort study
Pediatric Dermatology, 2022, 39, 896-902
1.110Citations (PDF)
28MicroRNA analysis of childhood atopic dermatitis reveals a role for miR‐451a*
British Journal of Dermatology, 2021, 184, 514-523
1.823Citations (PDF)
29Autosomal recessive hypotrichosis with loose anagen hairs associated with <i>TKFC</i> mutations*
British Journal of Dermatology, 2021, 184, 935-943
1.813Citations (PDF)
30PLACK syndrome resulting from a novel homozygous variant in <i>CAST</i>
Pediatric Dermatology, 2021, 38, 210-212
1.18Citations (PDF)
31Systemic treatments in the management of atopic dermatitis: A systematic review and meta‐analysis9.598Citations (PDF)
32Topical corticosteroids normalize both skin and systemic inflammatory markers in infant atopic dermatitis
British Journal of Dermatology, 2021, 185, 153-163
1.831Citations (PDF)
33The Alopecia Areata Consensus of Experts (ACE) study part II: Results of an international expert opinion on diagnosis and laboratory evaluation for alopecia areata1.958Citations (PDF)
34Shedding light on therapeutics in alopecia and their relevance to COVID-19
Clinics in Dermatology, 2021, 39, 76-83
1.510Citations (PDF)
35Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
Genes, 2021, 12, 80
2.631Citations (PDF)
36Dupilumab Provides Significant Clinical Benefit in a Phase 3 Trial in Adolescents with Uncontrolled Atopic Dermatitis Irrespective of Prior Systemic Immunosuppressant Use
Acta Dermato-Venereologica, 2021, 101, adv00504
1.911Citations (PDF)
37Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome3.265Citations (PDF)
38A 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)
JAMA Dermatology, 2021, 157, 439
5.530Citations (PDF)
39Learning from disease registries during a pandemic: Moving toward an international federation of patient registries
Clinics in Dermatology, 2021, 39, 467-478
1.513Citations (PDF)
40Four childhood atopic dermatitis subtypes identified from trajectory and severity of disease and internally validated in a large UK birth cohort
British Journal of Dermatology, 2021, 185, 526-536
1.832Citations (PDF)
41The Role of the Environment and Exposome in Atopic Dermatitis1.476Citations (PDF)
42Once-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
Lancet, The, 2021, 397, 2151-2168
52.8462Citations (PDF)
43Biallelic variants in <i>RNU12</i> cause CDAGS syndrome
Human Mutation, 2021, 42, 1042-1052
3.917Citations (PDF)
44Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network1.814Citations (PDF)
45Dermatology COVID-19 Registries
Dermatologic Clinics, 2021, 39, 575-585
2.016Citations (PDF)
46Behavioral consequences at 5 y of neonatal iron deficiency in a low-risk maternal–infant cohort4.920Citations (PDF)
47<i>Staphylococcus aureus</i> binds to the N-terminal region of corneodesmosin to adhere to the stratum corneum in atopic dermatitis7.655Citations (PDF)
48Clinical examination for hyperlinear palms to determine filaggrin genotype: A diagnostic test accuracy study2.59Citations (PDF)
49The exposome in atopic dermatitis9.5147Citations (PDF)
50The role of filaggrin in atopic dermatitis and allergic disease1.1264Citations (PDF)
51<i>RASA1</i>mosaic mutations in patients with capillary malformation-arteriovenous malformation3.963Citations (PDF)
52TREatment of ATopic eczema (TREAT) Registry Taskforce: protocol for a European safety study of dupilumab and other systemic therapies in patients with atopic eczema
British Journal of Dermatology, 2020, 182, 1423-1429
1.819Citations (PDF)
53Filaggrin Expression and Processing Deficiencies Impair Corneocyte Surface Texture and Stiffness in Mice2.337Citations (PDF)
54The role of bacterial skin infections in atopic dermatitis: expert statement and review from the International Eczema Council Skin Infection Group
British Journal of Dermatology, 2020, 182, 1331-1342
1.8173Citations (PDF)
55The impact of short‐term predominate breastfeeding on cognitive outcome at 5 years1.721Citations (PDF)
56What is the evidence for interactions between filaggrin null mutations and environmental exposures in the aetiology of atopic dermatitis? A systematic review
British Journal of Dermatology, 2020, 183, 443-451
1.833Citations (PDF)
57The Immunomodulatory Metabolite Itaconate Modifies NLRP3 and Inhibits Inflammasome Activation
Cell Metabolism, 2020, 32, 468-478.e7
26.2502Citations (PDF)
58Atopic dermatitis
Lancet, The, 2020, 396, 345-360
52.81,558Citations (PDF)
59Protocol for a prospective, observational, longitudinal study in paediatric patients with moderate-to-severe atopic dermatitis (PEDISTAD): study objectives, design and methodology
BMJ Open, 2020, 10, e033507
2.011Citations (PDF)
60International collaboration and rapid harmonization across dermatologic COVID-19 registries1.914Citations (PDF)
61The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areata1.9169Citations (PDF)
62In vivo Raman spectroscopy discriminates between FLG loss-of-function carriers vs wild-type in day 1-4 neonates1.112Citations (PDF)
63The European TREatment of ATopic eczema (TREAT) Registry Taskforce survey: prescribing practices in Europe for phototherapy and systemic therapy in adult patients with moderate‐to‐severe atopic eczema*
British Journal of Dermatology, 2020, 183, 1073-1082
1.837Citations (PDF)
64Global reporting of cases of COVID‐19 in psoriasis and atopic dermatitis: an opportunity to inform care during a pandemic
British Journal of Dermatology, 2020, 183, 404-406
1.818Citations (PDF)
65Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis1.013Citations (PDF)
66Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis1.01Citations (PDF)
67The NLRP3 inhibitor MCC950 inhibits IL-1β production in PBMC from 19 patients with Cryopyrin-Associated Periodic Syndrome and in 2 patients with Schnitzler’s Syndrome1.08Citations (PDF)
68<scp>TRE</scp> atment of <scp>AT</scp> opic eczema ( <scp>TREAT</scp> ) 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
British Journal of Dermatology, 2019, 180, 790-801
1.832Citations (PDF)
69Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell‐related immunity and angiogenesis
British Journal of Dermatology, 2019, 180, 586-596
1.894Citations (PDF)
70Clinical and genetic differences between pustular psoriasis subtypes6.2232Citations (PDF)
71Report from the National Institute of Allergy and Infectious Diseases workshop on “Atopic dermatitis and the atopic march: Mechanisms and interventions”6.2178Citations (PDF)
72<scp>TRE</scp> atment of <scp>AT</scp> opic eczema ( <scp>TREAT</scp> ) Registry Taskforce: consensus on how and when to measure the core dataset for atopic eczema treatment research registries
British Journal of Dermatology, 2019, 181, 492-504
1.834Citations (PDF)
73Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis ( <scp>POIKTMP</scp> ): a case series of 28 patients
British Journal of Dermatology, 2019, 181, 862-864
1.89Citations (PDF)
74Spontaneous atopic dermatitis in mice with a defective skin barrier is independent of ILC2 and mediated by IL‐1β9.568Citations (PDF)
75The relationship between IGF-I and -II concentrations and body composition at birth and over the first 2 months
Pediatric Research, 2019, 85, 687-692
2.45Citations (PDF)
76Disease trajectories in childhood atopic dermatitis: an update and practitioner's guide
British Journal of Dermatology, 2019, 181, 895-906
1.866Citations (PDF)
77Next-generation anti–Staphylococcus aureus vaccines: A potential new therapeutic option for atopic dermatitis?6.224Citations (PDF)
78The atopic march and atopic multimorbidity: Many trajectories, many pathways6.2381Citations (PDF)
79The microbiome in patients with atopic dermatitis6.2445Citations (PDF)
80Catalogue of inherited disorders found among the Irish Traveller population
Journal of Medical Genetics, 2018, 55, 233-239
3.927Citations (PDF)
81A 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)
British Journal of Dermatology, 2018, 179, 1297-1306
1.821Citations (PDF)
82Early-life regional and temporal variation in filaggrin-derived natural moisturizing factor, filaggrin-processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis1.850Citations (PDF)
83Iron status, body size, and growth in the first 2 years of life2.825Citations (PDF)
84The spectrum of manifestations in desmoplakin gene ( DSP ) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab1.973Citations (PDF)
85Staphylococcus aureus and Atopic Dermatitis: A Complex and Evolving Relationship
Trends in Microbiology, 2018, 26, 484-497
8.3447Citations (PDF)
86Antenatal Vitamin D Status Is Not Associated with Standard Neurodevelopmental Assessments at Age 5 Years in a Well-Characterized Prospective Maternal-Infant Cohort
Journal of Nutrition, 2018, 148, 1580-1586
3.020Citations (PDF)
87Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes2.340Citations (PDF)
88Response to “Comment on: ‘When does atopic dermatitis warrant systemic therapy? Recommendations from an expert panel of the International Eczema Council’”1.92Citations (PDF)
89The widespread use of topical antimicrobials enriches for resistance in<i>Staphylococcus aureus</i>isolated from patients with atopic dermatitis
British Journal of Dermatology, 2018, 179, 951-958
1.849Citations (PDF)
90Adhesion of Staphylococcus aureus to Corneocytes from Atopic Dermatitis Patients Is Controlled by Natural Moisturizing Factor Levels
MBio, 2018, 9,
4.479Citations (PDF)
91Antenatal 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 <scp>BASELINE</scp> Birth Cohort Study9.539Citations (PDF)
92Atopic dermatitis50.71,581Citations (PDF)
93The International TREatment of ATopic Eczema (TREAT) Registry Taskforce: An Initiative to Harmonize Data Collection across National Atopic Eczema Photo- and Systemic Therapy Registries2.329Citations (PDF)
94Clumping Factor B Promotes Adherence of Staphylococcus aureus to Corneocytes in Atopic Dermatitis2.7101Citations (PDF)
95Vitamin D metabolite concentrations in umbilical cord blood serum and associations with clinical characteristics in a large prospective mother-infant cohort in Ireland2.461Citations (PDF)
96Mathematical modeling of atopic dermatitis reveals “double-switch” mechanisms underlying 4 common disease phenotypes6.261Citations (PDF)
97Microcytosis is associated with low cognitive outcomes in healthy 2-year-olds in a high-resource setting
British Journal of Nutrition, 2017, 118, 360-367
2.58Citations (PDF)
98Methotrexate for Severe Childhood Atopic Dermatitis: Clinical Experience in a Tertiary Center
Pediatric Dermatology, 2017, 34, 528-534
1.139Citations (PDF)
99When does atopic dermatitis warrant systemic therapy? Recommendations from an expert panel of the International Eczema Council1.9216Citations (PDF)
100Iron intakes and status of 2‐year‐old children in the Cork BASELINE Birth Cohort Study2.827Citations (PDF)
101Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations2.3197Citations (PDF)
102Skin 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 year6.2333Citations (PDF)
103<scp>SVEP</scp>1 plays a crucial role in epidermal differentiation
Experimental Dermatology, 2017, 26, 423-430
2.836Citations (PDF)
104Variation in iodine food composition data has a major impact on estimates of iodine intake in young children2.88Citations (PDF)
105AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production2.3147Citations (PDF)
106Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes6.2195Citations (PDF)
107Spontaneous atopic dermatitis is mediated by innate immunity, with the secondary lung inflammation of the atopic march requiring adaptive immunity6.2139Citations (PDF)
108Neonatal adiposity increases the risk of atopic dermatitis during the first year of life6.236Citations (PDF)
109Low vitamin D deficiency in Irish toddlers despite northerly latitude and a high prevalence of inadequate intakes3.525Citations (PDF)
110Update on Epidemiology, Diagnosis, and Disease Course of Atopic Dermatitis0.841Citations (PDF)
111Review of Critical Issues in the Pathogenesis of Atopic Dermatitis0.811Citations (PDF)
112Assessing the New and Emerging Treatments for Atopic Dermatitis0.814Citations (PDF)
113The Changing Paradigm of Atopic Dermatitis Therapy0.81Citations (PDF)
114Kasabach-Merritt syndrome, kaposiform haemangioendothelioma and platelet blockade2.45Citations (PDF)
115Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations3.246Citations (PDF)
116Recent advances in the pathobiology and management of Kasabach–Merritt phenomenon2.4120Citations (PDF)
117DOCK8 primary immunodeficiency syndrome
Lancet, The, 2015, 386, 982
52.84Citations (PDF)
118Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation6.2163Citations (PDF)
119Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms6.5184Citations (PDF)
120Cohort profile: The Cork BASELINE Birth Cohort Study: Babies after SCOPE: Evaluating the Longitudinal Impact on Neurological and Nutritional Endpoints5.164Citations (PDF)
121Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin6.2118Citations (PDF)
122Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris2.3108Citations (PDF)
123Adherence with early infant feeding and complementary feeding guidelines in the Cork BASELINE Birth Cohort Study
Public Health Nutrition, 2015, 18, 2864-2873
2.235Citations (PDF)
124IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis6.2137Citations (PDF)
125Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis6.2108Citations (PDF)
126Crossing Barriers; Restoring Barriers? Filaggrin Protein Replacement Takes a Bow2.310Citations (PDF)
127Insight into<i>IKBKG</i>/<i>NEMO</i>Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
Human Mutation, 2014, 35, 165-177
3.985Citations (PDF)
128A longitudinal study of skin barrier function in pregnancy and the postnatal period
Obstetric Medicine, 2014, 7, 156-159
0.75Citations (PDF)
129South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin6.272Citations (PDF)
130siRNA Silencing of the Mutant Keratin 12 Allele in Corneal Limbal Epithelial Cells Grown From Patients With Meesmann's Epithelial Corneal Dystrophy
2014, 55, 3352
33Citations (PDF)
131Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis6.2132Citations (PDF)
132Systemic therapies for severe atopic dermatitis in children and adults6.255Citations (PDF)
133Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects6.2151Citations (PDF)
134Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status6.258Citations (PDF)
135The multifunctional role of filaggrin in allergic skin disease6.2392Citations (PDF)
136A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis
Human Molecular Genetics, 2013, 22, 4841-4856
3.0223Citations (PDF)
137Use of Systemic Corticosteroids in Management of a Large Congenital Haemangioma of the Scalp1.12Citations (PDF)
138<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
Human Mutation, 2013, 34, 1632-1641
3.9267Citations (PDF)
139Newborn Transepidermal Water Loss Values: A Reference Dataset
Pediatric Dermatology, 2013, 30, 712-716
1.145Citations (PDF)
140Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin2.311Citations (PDF)
141Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect2.3196Citations (PDF)
142Filaggrin 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 deficiency6.2253Citations (PDF)
143Skin involvement in <scp>D</scp>own syndrome transient abnormal myelopoiesis
British Journal of Haematology, 2012, 157, 280-280
2.42Citations (PDF)
144Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy6.2454Citations (PDF)
145Filaggrin Mutations Associated with Skin and Allergic Diseases
New England Journal of Medicine, 2011, 365, 1315-1327
43.71,111Citations (PDF)
146Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy
PLoS ONE, 2011, 6, e28582
2.442Citations (PDF)
147PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients
Pediatric Radiology, 2011, 41, 1129-1138
1.927Citations (PDF)
148Identification of a novel <i>C16orf57</i> mutation in Athabaskan patients with Poikiloderma with Neutropenia1.536Citations (PDF)
149Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype1.569Citations (PDF)
150Gender- and Gestational Age–Specific Body Fat Percentage at Birth
Pediatrics, 2011, 128, e645-e651
4.7108Citations (PDF)
151Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis2.329Citations (PDF)
152Chromosome 11q13.5 variant associated with childhood eczema: An effect supplementary to filaggrin mutations6.260Citations (PDF)
153Raman profiles of the stratum corneum define 3 filaggrin genotype–determined atopic dermatitis endophenotypes6.2145Citations (PDF)
154Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus6.2230Citations (PDF)
155Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort
PLoS ONE, 2009, 4, e5784
2.49Citations (PDF)
156Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges1.527Citations (PDF)
157Mediastinal and Neck Kaposiform Hemangioendothelioma: Report of Three Cases
Pediatric Dermatology, 2009, 26, 331-337
1.133Citations (PDF)
158Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease6.2398Citations (PDF)
159Loss-of-Function Mutations in the Filaggrin Gene Lead to Reduced Level of Natural Moisturizing Factor in the Stratum Corneum2.3287Citations (PDF)
160Successful Treatment of Florid Cutaneous Warts with Intravenous Cidofovir in an 11‐Year‐Old Girl
Pediatric Dermatology, 2008, 25, 387-389
1.120Citations (PDF)
161The burden of disease associated with filaggrin mutations: A population-based, longitudinal birth cohort study6.2329Citations (PDF)
162Filaggrin mutations, atopic eczema, hay fever, and asthma in children6.2395Citations (PDF)
163Analysis 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 risk6.284Citations (PDF)
164Filaggrin in atopic dermatitis6.2473Citations (PDF)
165Atopic Eczema and the Filaggrin Story0.887Citations (PDF)
166The role of filaggrin loss-of-function mutations in atopic dermatitis2.450Citations (PDF)
167Toward a major risk factor for atopic eczema: Meta-analysis of filaggrin polymorphism data6.2219Citations (PDF)
168A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita2.350Citations (PDF)
169Filaggrin Null Alleles Are Not Associated with Psoriasis2.345Citations (PDF)
170Response to IL‐1‐Receptor Antagonist in a Child with Familial Cold Autoinflammatory Syndrome
Pediatric Dermatology, 2007, 24, 85-89
1.129Citations (PDF)
171Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations6.2593Citations (PDF)
172Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis2.3220Citations (PDF)
173Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population0.959Citations (PDF)
174Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa
Experimental Dermatology, 2006, 15, 479-479
2.84Citations (PDF)
175Inherited defects in keratins
Clinics in Dermatology, 2005, 23, 6-14
1.530Citations (PDF)
176An unusual N-terminal deletion of the laminin  3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
Human Molecular Genetics, 2004, 13, 365-365
3.0112Citations (PDF)
177Comparative <i>PRKAR1A</i> genotype–phenotype analyses in humans with Carney complex and <i>prkar1a</i> haploinsufficient mice7.6161Citations (PDF)
178Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients0.537Citations (PDF)
179An unusual N-terminal deletion of the laminin  3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
Human Molecular Genetics, 2003, 12, 2395-2409
3.0130Citations (PDF)
180Inherited disorders of keratinization0.11Citations (PDF)
181Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families2.3192Citations (PDF)
182Inherited disorders of keratinization0.13Citations (PDF)
183Ocular Surface Reconstruction in LOGIC Syndrome by Amniotic Membrane Transplantation
Cornea, 2001, 20, 753-756
1.816Citations (PDF)
184Hair on a gene string: recent advances in understanding the molecular genetics of hair loss1.225Citations (PDF)
185Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
Human Molecular Genetics, 2001, 10, 221-229
3.0346Citations (PDF)
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1996, 62, 213-215
19Citations (PDF)
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BMJ Case Reports, 0, , bcr2013202171
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