Y. Shimomura

M. Uchiyama, Y. Shimomura, T. Kikuchi, 2005, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

SLURP‐1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene

Y. Shimomura, D. Nassar, C. Bergqvist, 2018, International journal of dermatology.

NIPAL4/Ichthyin Is Expressed in the Granular Layer of Human Epidermis and Mutated in Two Pakistani Families with Autosomal Recessive Ichthyosis

A. Christiano, M. Wajid, Y. Shimomura, 2009, Dermatology.

Structural behavior of keratin-associated protein 8.1 in human hair as revealed by a monoclonal antibody.

K. Tsumoto, Makoto Nakakido, T. Hamakubo, 2018, Journal of structural biology.

Characterization of the human hair keratin-associated protein 2 (KRTAP2) gene family.

Masaaki Ito, Y. Shimomura, A. Fujimoto, 2012, The Journal of investigative dermatology.

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

Masaaki Ito, Y. Shimomura, K. Matsunaga, 2006, The Journal of investigative dermatology.

Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre Syndrome

A. Christiano, M. Wajid, Y. Shimomura, 2009, Dermatology.

Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.

A. Christiano, M. Wajid, Y. Shimomura, 2009, Journal of dermatological science.

A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene

Y. Shimomura, M. Ito, A. Takahashi, 2006, Clinical and experimental dermatology.

Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene

Y. Shimomura, S. Morizane, R. Hayashi, 2020, The Journal of dermatology.

Linagliptin‐associated bullous pemphigoid that was most likely caused by IgG autoantibodies against the midportion of BP180

H. Shimizu, R. Abe, Y. Shimomura, 2017, The British journal of dermatology.

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

Y. Shimomura, K. Sugawara, D. Tsuruta, 2018, The Journal of dermatology.

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

M. Skoblov, F. Konovalov, Y. Shimomura, 2016, The Journal of investigative dermatology.

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.

A. Christiano, Masaaki Ito, Y. Shimomura, 2009, Journal of dermatological science.

Case of Netherton syndrome with an elevated serum thymus and activation‐regulated chemokine level

K. Kabashima, Y. Shimomura, Y. Miyachi, 2013, The Journal of dermatology.

Human hair keratin-associated proteins.

Masaaki Ito, Y. Shimomura, 2005, The journal of investigative dermatology. Symposium proceedings.

hKAP1.6 and hKAP1.7, two novel human high sulfur keratin-associated proteins are expressed in the hair follicle cortex.

J. Schweizer, Masaaki Ito, Y. Shimomura, 2002, The Journal of investigative dermatology.

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis

M. Wajid, Y. Shimomura, A. Christiano, 2013, Journal of the European Academy of Dermatology and Venereology : JEADV.

A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient.

Y. Shimomura, A. Christiano, M. Kurban, 2010, Journal of dermatological science.

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.

A. Christiano, L. Kraemer, M. Wajid, 2009, Journal of dermatological science.

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

L. Shapiro, A. Christiano, M. Wajid, 2009, The Journal of investigative dermatology.

Chronic glomerulonephritis remarkably improved after surgery for acne conglobata of the buttocks

Y. Shimomura, M. Ito, S. Nomoto, 2001, The British journal of dermatology.

Mutation Analysis of the IL36RN Gene in 14 Japanese Patients with Generalized Pustular Psoriasis

H. Nakai, Masaaki Ito, Y. Shimomura, 2013, Human mutation.

Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3

Y. Shimomura, C. Bergqvist, G. Nemer, 2017, Archives of Dermatological Research.

An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.

K. Kaira, Y. Shimomura, O. Ishikawa, 2015, The Journal of investigative dermatology.

A novel mutation in the cathepsin C gene in a Pakistani family with Papillon‐Lefevre syndrome

M. Wajid, Y. Shimomura, A. Christiano, 2010, Journal of the European Academy of Dermatology and Venereology : JEADV.

Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules

Y. Shimomura, M. Ito, N. Sato, 2005, The British journal of dermatology.

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

H. Nakai, S. Baig, K. Kjaer, 2013, Human Genetics.

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

A. Miyashita, R. Kuwano, Masaaki Ito, 2004, The Journal of investigative dermatology.

Subcutaneous Trichophyton rubrum abscesses in an immunocompromised patient

M. Muto, Y. Shimomura, Takahiro Yamada, 2020, Journal of dermatology (Print).

Distinct Characteristics in Japanese Dermatitis Herpetiformis: A Review of All 91 Japanese Patients over the Last 35 Years

T. Dainichi, T. Hashimoto, Y. Shimomura, 2012, Clinical & developmental immunology.

Guidelines for the diagnosis and treatment of male‐pattern and female‐pattern hair loss, 2017 version

S. Inui, M. Ohyama, S. Kurata, 2018, The Journal of dermatology.

Case of pemphigus herpetiformis with immunoglobulin G autoantibodies against desmocollin‐3

R. Abe, Y. Shimomura, A. Fujimoto, 2017, The Journal of dermatology.

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

Annette Lee, P. Gregersen, C. Amos, 2010, Nature.

Segmental lichen aureus in infancy

R. Abe, Y. Shimomura, Y. Saito, 2017, Clinical and experimental dermatology.

Keratitis–ichthyosis–deafness syndrome with recurrent pneumonia but no mucocutaneous infection

T. Honda, K. Kabashima, A. Otsuka, 2016, The Journal of dermatology.

Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

D. Gordon, L. Shapiro, Y. Ishii, 2008, Nature Genetics.

PLCD1 and Pilar Cysts.

Y. Shimomura, R. O’Shaughnessy, N. Rajan, 2019, The Journal of investigative dermatology.

A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia

O Abbas, M Kurban, A-G Kibbi, 2012, The British journal of dermatology.

Type : Invited Commentary Title : “ PLCD 1 and pilar cysts ”

Y. Shimomura, R. O’Shaughnessy, N. Rajan, 2019 .

Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis

M. Furue, T. Nakahara, Y. Shimomura, 2017, The Journal of dermatology.

Investigation by Imaging Mass Spectrometry of Biomarker Candidates for Aging in the Hair Cortex

M. Setou, Y. Shimomura, N. Goto-Inoue, 2011, PloS one.

Biology and genetics of hair.

A. Christiano, Y. Shimomura, 2010, Annual review of genomics and human genetics.

Panniculitis as the initial manifestation of dermatomyositis with anti‐MDA5 antibody

R. Abe, Y. Shimomura, J. Koshio, 2017, Clinical and experimental dermatology.

A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

Y. Shimomura, G. Nemer, O. Abbas, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

Oocyte Cryopreservation before Tumorectomy in Gorlin-Goltz Syndrome with Recurrent Ovarian Fibroma: A Case Report

M. Sekine, T. Enomoto, K. Takakuwa, 2018 .

A case of multiple oral cancers in the patient with hypohidrotic ectodermal dysplasia

Takanori Kobayashi, Y. Shimomura, A. Iida, 2022, Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology.

Characterization of human keratin-associated protein 1 family members.

J. Schweizer, Masaaki Ito, Y. Shimomura, 2003, The journal of investigative dermatology. Symposium proceedings.

Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family.

Masaaki Ito, Y. Shimomura, N. Kariya, 2005, The Journal of investigative dermatology.

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis

Shujiro Okuda, H. Nakai, R. Abe, 2017 .

Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family

Y. Shimomura, A. Christiano, M. Kurban, 2010, Journal of the European Academy of Dermatology and Venereology : JEADV.

An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases

Kazue Yoshida, Y. Shimomura, H. Yokozeki, 2021, The Journal of dermatology.

Sporadic case of Darier disease caused by a novel splice‐site mutation in the ATP2A2 gene

Y. Shimomura, N. Asano, M. Yamaguchi, 2018, Clincal and Experimental Dermatology.

Novel mutation of the ATP2A2 gene in a case of Darier’s disease featuring erosive lesions

K. Kabashima, Y. Shimomura, Y. Miyachi, 2015, European Journal of Dermatology.

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

A. Brivanlou, B. Barres, A. Christiano, 2010, Nature.

Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family*

H. Winter, J. Schweizer, Y. Shimomura, 2002, The Journal of Biological Chemistry.

Acrodermatitis Continua of Hallopeau Is a Clinical Phenotype of DITRA: Evidence that It Is a Variant of Pustular Psoriasis

Y. Shimomura, O. Abbas, M. Kurban, 2013, Dermatology.

A novel TRPS1 mutation in a family with tricho‐rhino‐phalangeal syndrome type 1

T. Fukao, M. Seishima, Y. Shimomura, 2014, The Journal of dermatology.

Gene expression of Sh3d19, a novel adaptor protein with five Src homology 3 domains, in anagen mouse hair follicles.

Masaaki Ito, Y. Shimomura, N. Aoki, 2003, Journal of dermatological science.

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.

A. Christiano, R. Rice, A. Zlotogorski, 2009, The Journal of investigative dermatology.

Evidence for a dominant‐negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I

Y. Shimomura, R. Hayashi, O. Ansai, 2021, The Journal of dermatology.

Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.

A. Christiano, M. Wajid, Y. Shimomura, 2010, The Journal of investigative dermatology.

A Common Founder Mutation in the EDA-A1 Gene in X-Linked Hypodontia

A. Christiano, M. Wajid, Y. Shimomura, 2010, Dermatology.

A Nonsense Mutation in the SCN9A Gene in Congenital Insensitivity to Pain

A. Christiano, M. Wajid, Y. Shimomura, 2010, Dermatology.

A Missense Mutation in the Death Domain of EDAR Abolishes the Interaction with EDARADD and Underlies Hypohidrotic Ectodermal Dysplasia

Masaaki Ito, Y. Shimomura, A. Fujimoto, 2011, Dermatology.

A novel type II cytokeratin, mK6irs, is expressed in the Huxley and Henle layers of the mouse inner root sheath.

Y. Shimomura, S. Sawada, M. Ito, 2001, The Journal of investigative dermatology.

Unique characteristics in Japanese dermatitis herpetiformis

H. Inoko, J. Zone, Y. Shimomura, 2016, British Journal of Dermatology.

Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

Y. Matsuo, Y. Shimomura, M. Hide, 2016, The Journal of dermatology.

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.

J. Aoki, A. Inoue, Y. Shimomura, 2015, Journal of dermatological science.

Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair

S. Inui, Masaaki Ito, Y. Shimomura, 2014, The Journal of dermatology.

Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family

Masaaki Ito, Y. Shimomura, T. Akasaka, 2014, The Journal of dermatology.

A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1α in autosomal recessive wooly hair/hypotrichosis.

J. Aoki, A. Inoue, Y. Shimomura, 2013, Journal of dermatological science.

Current Genetics in Hair Diseases

Y. Shimomura, 2013 .

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

Y Shimomura, M. Naito, Y. Shimomura, 2011, The British journal of dermatology.

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia

Y. Shimomura, N. Asano, R. Hayashi, 2021, The Journal of dermatology.

Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia

Y. Shimomura, N. Asano, T. Okita, 2019, The Journal of dermatology.

Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals

Y. Shimomura, N. Asano, M. Yamaguchi, 2018, The Journal of dermatology.

Delayed‐onset heat intolerance in a Japanese patient with X‐linked hypohidrotic ectodermal dysplasia associated with a large deletion involving four genes

R. Abe, Kazue Yoshida, Y. Shimomura, 2018, The Journal of dermatology.

Novel EDA hemizygous frame‐shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

Kazue Yoshida, Y. Shimomura, H. Niizeki, 2014, The Journal of dermatology.

Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene

Masaaki Ito, Y. Shimomura, T. Hashimoto, 2013, The Journal of dermatology.

Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia

Y. Ishii, V. Lombillo, L. Kraemer, 2009, Clinical genetics.

Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia

Y. Shimomura, A. Fujimoto, M. Ito, 2013, The British journal of dermatology.

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer

Y. Shimomura, G. Nemer, H. Kadara, 2017, Clinical genetics.

Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis

Y. Shimomura, Y. Tokura, T. Ito, 2015, The Journal of dermatology.

Squamous cell carcinoma and keratoacanthoma on the neck in a patient with hypohidrotic ectodermal dysplasia

Y. Shimomura, Y. Kiyohara, T. Kamijo, 2021, European Journal of Dermatology.

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair

T. Kanekura, Y. Shimomura, N. Asano, 2018, The Journal of dermatology.

Case of severe acneiform eruptions associated with the BRAF inhibitor vemurafenib

R. Abe, Y. Shimomura, H. Fujikawa, 2017, The Journal of dermatology.

GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63.

Mazen Kurban, Hiroki Fujikawa, Atsushi Fujimoto, 2013, Journal of dermatological science.

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle

Lawrence Shapiro, Yutaka Shimomura, L. Shapiro, 2008, Development.

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

A. Christiano, M. Wajid, Y. Shimomura, 2012, Genomics.

Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient

H. Nakai, Masaaki Ito, Y. Shimomura, 2016, The Journal of dermatology.

Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia

H. Kurahashi, K. Shiraishi, S. Katsura, 2022, The Journal of dermatology.

Painless lumps in the proximal interphalangeal joints in tricho‐rhino‐phalangeal syndrome type 1

H. Yamanaka, G. Nishimura, Y. Shimomura, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations

R. Abe, Y. Shimomura, R. Hayashi, 2021, The Journal of dermatology.

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

Shujiro Okuda, H. Nakai, R. Abe, 2016, Human molecular genetics.

Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia

N. Amizuka, Y. Shimomura, M. Farooq, 2017, Odontology.

Two-way Revascularization to Manage Celiac Artery Stenosis during Pancreaticoduodenectomy: A Case Report

Y. Shimomura, H. Ota, Hiroyuki Takasu, 2021, Plastic and reconstructive surgery. Global open.

Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome.

Y. Shimomura, O. Abbas, M. Kurban, 2012, European journal of dermatology : EJD.

Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene

T. Bito, Masaaki Ito, Y. Shimomura, 2014, The Journal of dermatology.

Case of generalized pustular psoriasis that might have progressed from terbinafine‐induced acute generalized exanthematous pustulosis

Y. Shimomura, N. Asano, M. Yamaguchi, 2018, Journal of dermatology (Print).

A tale of two sisters: identical IL36RN mutations and discordant phenotypes

H. Nakai, Y. Shimomura, N. Rajan, 2015, British Journal of Dermatology.

Localized heat urticaria: Positive reaction of preheated autologous serum skin test

R. Abe, Y. Shimomura, Hiroshi Arinami, 2016, The Journal of dermatology.

Case of infantile digital fibromatosis: Observation of its dermoscopic features

R. Abe, Y. Shimomura, H. Fujikawa, 2017, The Journal of dermatology.

Atypical Localization of Congenital Triangular Alopecia Associated with Down's Syndrome

R. Abe, Y. Shimomura, S. Shinkuma, 2022, Indian Journal of Dermatology.

Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C‐terminal region of connexin 43

T. Dainichi, K. Kabashima, Y. Shimomura, 2014, The Journal of dermatology.

Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma

L. Kraemer, M. Wajid, Y. Shimomura, 2010, Clinical and experimental dermatology.

Pregnancy‐triggered atypical extrapalmoplantar erythematous hyperkeratotic lesions in palmoplantar keratoderma with mitochondrial mutations

R. Abe, Y. Shimomura, S. Shinkuma, 2020, Journal of the European Academy of Dermatology and Venereology.

Identification of a recurrent mitochondrial mutation in a Japanese family with palmoplantar keratoderma, nail dystrophy, and deafness

Masaaki Ito, Y. Shimomura, H. Fujiwara, 2015, European Journal of Dermatology.

Hypohidrotic ectodermal dysplasia with strabismus

T. Kanekura, Y. Shimomura, Y. Higashi, 2018, The Journal of dermatology.

Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa.

Masaaki Ito, K. Natsuga, Y. Shimomura, 2016, The Journal of investigative dermatology.

Perivascular Hedgehog responsive cells play a critical role in peripheral nerve regeneration via controlling angiogenesis

A. Ohazama, Y. Shimomura, K. Izumi, 2021, Neuroscience Research.

A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis

R. Abe, Y. Shimomura, S. Shinkuma, 2018, European Journal of Dermatology.

A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans

N. El-Hachem, A. Khalil, Y. Shimomura, 2020, Clinical genetics.

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene

Y. Shimomura, H. Fujiwara, M. Ito, 2006, British Journal of Dermatology.

Identification of Two Novel Mutations in SLC29A3 Encoding an Equilibrative Nucleoside Transporter (hENT3) in Two Distinct Syrian Families with H Syndrome: Expression Studies of SLC29A3 (hENT3) in Human Skin

Y. Shimomura, O. Abbas, R. Moustafa, 2012, Dermatology.

Expression studies of nectin-1 in human hair follicles and identification of a p63-responsive element in the NECTIN1 promoter.

R. Abe, Y. Shimomura, R. Hayashi, 2016, Journal of dermatological science.

First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24.

R. Abe, Y. Shimomura, H. Niizeki, 2017, Journal of dermatological science.

Functional analysis of keratin filament network formation indicates clinical severity of epidermolysis bullosa simplex

R. Abe, Y. Shimomura, S. Shinkuma, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

A. Christiano, M. Wajid, Y. Shimomura, 2011, Journal of Human Genetics.

Waardenburg syndrome type IIE in a Japanese patient caused by a novel non‐frame‐shift duplication mutation in the SOX10 gene

J. Tohyama, Y. Shimomura, Tamio Suzuki, 2018, Journal of dermatology (Print).

Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families.

Y. Shimomura, O. Abbas, M. Kurban, 2013, Journal of dermatological science.

Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene

A. Christiano, M. Wajid, Y. Shimomura, 2013, Journal of Human Genetics.

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis

Y. Shimomura, G. Nemer, O. Abbas, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

Cutaneous vasculitis induced by osimertinib.

S. Uehara, Y. Shimomura, K. Matsunaga, 2019, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia

Y. Shimomura, C. Bergqvist, G. Nemer, 2017, Clinical and experimental dermatology.

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

A. Christiano, M. Wajid, Y. Shimomura, 2012, Genomics.

Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient

H. Nakai, Masaaki Ito, Y. Shimomura, 2016, The Journal of dermatology.