Author details

Full Name

Gen Nishimura

Affiliation

ORCID

Career Start Year

1981

Papers

423

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37619988	Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.		2024
37799085	The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.	Am J Med Genet A	2024
37351952	Prenatal diagnosis of bone dysplasias.		2023
36299998	A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.	Human Genetics and Genomics Advances	2023
37993442	Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.		2023
36779427	Nosology of genetic skeletal disorders: 2023 revision.	Am J Med Genet A	2023
36896612	Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.	J Bone Miner Res	2023
37329408	Imaging findings of juvenile idiopathic arthritis and autoinflammatory diseases in children.		2023
37053103	Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.		2023
37424725	Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.	Front Genet	2023
37352860	Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.	Am J Hum Genet	2023
35342932	De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.	Clinical Genetics	2022
36224347	Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).	Sci Rep	2022
35808914	Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.	Prenat Diagn	2022
33106379	Biallelic cGMP-dependent type II protein kinase gene () variants cause a novel acromesomelic dysplasia.	Journal of Medical Genetics	2022
34467646	Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia.	American Journal of Medical Genetics, Part A	2022
35314765	ACAN biallelic variants in a girl with severe idiopathic short stature.	Journal of Human Genetics	2022
35043224	BCG osteomyelitis: tips for diagnosis.	Skeletal Radiology	2022
34668226	SLC4A2 Deficiency Causes a New Type of Osteopetrosis.	Journal of Bone and Mineral Research	2022
34826255	Multisystem Imaging Manifestations of Kawasaki Disease.	Radiographics	2022
34597445	Development of individuals with thanatophoric dysplasia surviving beyond infancy.	Pediatrics International	2022
33398909	Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.	Am J Med Genet A	2021
33963180	Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.	Human Genome Variation	2021
34156493	A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.	Calcified Tissue International	2021
34254228	Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood.	Endocrine	2021
33875766	High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.	J Hum Genet	2021
33824347	Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.	Nat Commun	2021
33369046	Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.	American Journal of Medical Genetics, Part A	2021
33037392	The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.	Journal of Human Genetics	2021
33359165	Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.	European Journal of Medical Genetics	2021
32916022	Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.	Journal of Bone and Mineral Research	2021
33186059	Radiologic Features of Type II and Type XI Collagenopathies.	Radiographics	2021
33402699	Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.	Journal of Human Genetics	2021
30677517	Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.	European Journal of Medical Genetics	2020
31600839	Skeletal abnormalities are common features in AymÃ©-Gripp syndrome.	Clin Genet	2020
31914175	Absence of GP130 cytokine receptor signaling causes extended StÃ¼ve-Wiedemann syndrome.	J Exp Med	2020
31965514	Skeletal ciliopathies: a pattern recognition approach.	Japanese Journal of Radiology	2020
31949312	Defining the clinical phenotype of Saul-Wilson syndrome.	Genet Med	2020
31880411	Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.	American Journal of Medical Genetics, Part A	2020
31988067	Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.	Journal of Medical Genetics	2020
31755234	Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.	American Journal of Medical Genetics, Part A	2020
32473227	Unique skeletal manifestations in patients with Primrose syndrome.	European Journal of Medical Genetics	2020
32655339	Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.	Molecular Syndromology	2020
33249384	Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways.	eBioMedicine	2020
32646367	Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.	Journal of Physiological Sciences	2020
32694885	A novel mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.	Clinical Pediatric Endocrinology	2020
33298914	A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease.	Human Genome Variation	2020
32506814	Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.	American Journal of Medical Genetics, Part A	2020
31311520	New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.	BMC Medical Genetics	2019
31645978	A severe form of Ellis-van Creveld syndrome caused by novel mutations in .	Human Genome Variation	2019