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Lu Liu · SciRah

Researcher profile · Semantic Scholar

Lu Liu

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Lu Liu — researcher profile on SciRah

h-index: 26
Works: 69
Citations: 2,272

Most-cited papers

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
T. Wong, Luke Gammon, Lu Liu, J. Mellerio +7 more
2008Journal of Investigative Dermatology255 citations Open access
Semantic Scholar
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
R. Groves, Lu Liu, P. Dopping-Hepenstal, H. Markus +9 more
2010Journal of Investigative Dermatology149 citations Open access
Semantic Scholar
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
D. Berki, Lu Liu, S. Choon, A. D. Burden +16 more
2015Journal of Investigative Dermatology117 citations Open access
Semantic Scholar
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
C. Tziotzios, C. Petridis, N. Dand, C. Ainali +70 more
2019Nature Communications103 citations Open access
Semantic Scholar
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR
P. Campbell, P. Morton, T. Takeichi, A. Salam +21 more
2014Journal of Investigative Dermatology89 citations Open access
Semantic Scholar
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
S. Lwin, F. Syed, W. Di, T. Kadiyirire +37 more
2019JCI Insight88 citations Open access
Semantic Scholar
Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa
J. Tolar, J. McGrath, Lily Xia, Megan J. Riddle +8 more
2013Journal of Investigative Dermatology85 citations Open access
Semantic Scholar
A Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
E. Rashidghamat, T. Kadiyirire, Salma Ayis, G. Petrof +26 more
2019Journal of American Academy of Dermatology81 citations Open access
Semantic Scholar
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
J. McGrath, K. Stone, R. Begum, M. Simpson +9 more
2012American Journal of Human Genetics79 citations Open access
Semantic Scholar
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
Lu Liu, P. Dopping-Hepenstal, P. Lovell, Magdalene Michael +6 more
2012Journal of Investigative Dermatology71 citations Open access
Semantic Scholar
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
N. Almaani, Lu Liu, P. Dopping-Hepenstal, J. Lai-Cheong +6 more
2011Acta Dermato-Venereologica68 citations Open access
Semantic Scholar
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
H. Vahidnezhad, L. Youssefian, A. Saeidian, H. Mahmoudi +12 more
2017Matrix Biology64 citations Open access
Semantic Scholar
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
H. Vahidnezhad, L. Youssefian, A. Saeidian, A. Touati +17 more
2019Matrix Biology61 citations Open access
Semantic Scholar
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic
T. Takeichi, A. Nanda, Lu Liu, A. Salam +8 more
2013Experimental Dermatology59 citations
Semantic Scholar
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
N. Almaani, N. Nagy, Lu Liu, P. Dopping-Hepenstal +6 more
2010Journal of Investigative Dermatology59 citations Open access
Semantic Scholar
Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.
John Y. W. Lee, Lu Liu, Chao-Kai Hsu, S. Aristodemou +6 more
2017Journal of Investigative Dermatology57 citations Open access
Semantic Scholar
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
T. Takeichi, A. Torrelo, John Y. W. Lee, Yusuke Ohno +22 more
2017Journal of Investigative Dermatology57 citations Open access
Semantic Scholar
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Rita M. Cabral, Lu Liu, C. Hogan, P. Dopping-Hepenstal +11 more
2010Journal of Investigative Dermatology56 citations Open access
Semantic Scholar
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
G. Petrof, A. Nanda, J. Howden, T. Takeichi +14 more
2014American Journal of Human Genetics53 citations Open access
Semantic Scholar
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
N. Almaani, Lu Liu, N. Harrison, A. Tanaka +3 more
2009Acta Dermato-Venereologica49 citations Open access
Semantic Scholar
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
H. Ee, Lu Liu, C. Goh, J. McGrath
2007Journal of American Academy of Dermatology45 citations
Semantic Scholar
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
P. C. van den Akker, J. Mellerio, Anna E. Martinez, Lu Liu +7 more
2010Journal of Medical Genetics43 citations Open access
Semantic Scholar
Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
K. Forrest, J. Mellerio, S. Robb, P. Dopping-Hepenstal +6 more
2010Neuromuscular Disorders41 citations
Semantic Scholar
Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
J. Lai-Cheong, Lu Liu, G. Sethuraman, Rajesh Kumar +7 more
2007Journal of Investigative Dermatology36 citations Open access
Semantic Scholar
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
John Y. W. Lee, Chao-Kai Hsu, Magdalene Michael, A. Nanda +22 more
2017American Journal of Human Genetics32 citations Open access
Semantic Scholar
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa
H. Vahidnezhad, L. Youssefian, A. Saeidian, A. Touati +9 more
2018Human Mutation29 citations
Semantic Scholar
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
M. Salih, K. Abu-Amero, Saleh K Alrasheed, I. Alorainy +7 more
2011BMC Medical Genetics26 citations Open access
Semantic Scholar
Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
L. Horev, U. Wollina, T. Potikha, A. Hafner +4 more
2009Acta Dermato-Venereologica24 citations Open access
Semantic Scholar
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
D. Sathishkumar, E. Orrin, A. Terron-Kwiatkowski, F. Browne +9 more
2016Journal of Investigative Dermatology21 citations Open access
Semantic Scholar
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
F. Rodríguez, M. J. Gana, M. J. Yubero, G. Zillmann +10 more
2012Journal of dermatological science (Amsterdam)19 citations
Semantic Scholar
Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica.
A. Onoufriadis, Chao-Kai Hsu, C. Eide, A. Nanda +28 more
2019Journal of Investigative Dermatology18 citations Open access
Semantic Scholar
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
Zoe Argyropoulou, Lu Liu, L. Ozoemena, Cláudia C. Branco +3 more
2018BMC Dermatology18 citations Open access
Semantic Scholar
Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
A. Wali, Lu Liu, T. Takeichi, M. Jelani +7 more
2015Acta Dermato-Venereologica18 citations Open access
Semantic Scholar
The natural history of laryngo‐onycho‐cutaneous syndrome: A case series of six pediatric patients and literature review
C. Prodinger, S. Chottianchaiwat, J. Mellerio, J. McGrath +6 more
2021Pediatric dermatology13 citations
Semantic Scholar
PLACK syndrome resulting from a new homozygous insertion mutation in CAST.
Azzam Alkhalifah, C. Chiaverini, P. del Giudice, Chavalit Supsrisunjai +5 more
2017Journal of dermatological science (Amsterdam)13 citations Open access
Semantic Scholar
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait
A. Nanda, Lu Liu, H. Al-Ajmi, Q. Alsaleh +5 more
2018International Journal of Dermatology12 citations
Semantic Scholar
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
A. Jackson, C. Moss, K. Chandler, Pablo Lopez Balboa +11 more
2022British Journal of Dermatology11 citations Open access
Semantic Scholar
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility
H. Vahidnezhad, L. Youssefian, M. Faghankhani, N. Mozafari +14 more
2020Scientific Reports11 citations Open access
Semantic Scholar
Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica
H. Vahidnezhad, L. Youssefian, S. Sotoudeh, Lu Liu +6 more
2020Human Mutation11 citations Open access
Semantic Scholar
Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.
John Y. W. Lee, Assem Farag, Amira M. Tawdy, Lu Liu +7 more
2017Journal of dermatological science (Amsterdam)11 citations Open access
Semantic Scholar
Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis.
A. Onoufriadis, Noha Ahmed, H. Bessar, A. Guy +8 more
2019Journal of Investigative Dermatology10 citations Open access
Semantic Scholar
Biallelic KRT5 mutations in epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
H. Vahidnezhad, L. Youssefian, M. Daneshpazhooh, H. Mahmoudi +9 more
2019Matrix Biology10 citations Open access
Semantic Scholar
Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.
T. Takeichi, Lu Liu, A. Abdul-Wahab, J. R. McMillan +6 more
2016Journal of Investigative Dermatology9 citations Open access
Semantic Scholar
Incontinentia pigmenti in a father and daughter
E. Rashidghamat, Chao-Kai Hsu, A. Nanda, Lu Liu +2 more
2016British Journal of Dermatology9 citations Open access
Semantic Scholar
Late diagnosis of ectodermal dysplasia syndrome
R. Granger, G. Marshman, Lu Liu, John A. McGrath
2013Australasian Journal of Dermatology9 citations
Semantic Scholar
Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: a case-control study.
Marieta Papanikolaou, L. Nattkemper, N. Benzian-Olsson, Lu Liu +27 more
2024Journal of American Academy of Dermatology8 citations Open access
Semantic Scholar
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
H. Vahidnezhad, L. Youssefian, A. Saeidian, L. Boyden +13 more
2021Matrix Biology8 citations
Semantic Scholar
Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.
A. Shipman, Lu Liu, J. Lai-Cheong, J. McGrath +1 more
2014JAMA dermatology8 citations Open access
Semantic Scholar
Nutrient deprivation induces mouse embryonic diapause mediated by Gator1 and Tsc2.
Jiajia Ye, Yu-Ting Xu, Qiyuan Ren, Lu Liu +1 more
2024Development7 citations
Semantic Scholar
A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita
E. Okulu, C. D. Durmaz, G. Tunç, A. Guzel +6 more
2020Egyptian Journal of Medical Human Genetics5 citations Open access
Semantic Scholar

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