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The Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis

Nature communications, 2020-07, Vol.11 (1), p.1-14, Article 3571

2020

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Age-related decrease of meiotic cohesins in human oocytes

PloS one, 2014-05, Vol.9 (5), p.e96710-e96710

2014

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Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

Journal of human genetics, 2022-06, Vol.67 (6), p.363-368

2022

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A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Journal of human genetics, 2020-08, Vol.65 (8), p.705-709

2020

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Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant

Human molecular genetics, 2023-04, Vol.32 (8), p.1301-1312

2023

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An Analysis of Differentially Expressed Coding and Long Non-Coding RNAs in Multiple Models of Skeletal Muscle Atrophy

International journal of molecular sciences, 2021-03, Vol.22 (5), p.2558

2021

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Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes

The Tohoku Journal of Experimental Medicine, 2022, Vol.256(1), pp.37-41

2022

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Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

Journal of human genetics, 2019-05, Vol.64 (5), p.459-466

2019

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Familial cardiac septal defect due to a novel nine‐base deletion in TBX20

Pediatrics international, 2022-01, Vol.64 (1), p.e14995-n/a

2022

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A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation

Surgical case reports, 2022-08, Vol.8 (1), p.160-160, Article 160

2022

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Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease

Prenatal diagnosis, 2023-03, Vol.43 (3), p.304-313

2023

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HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity

Genes to cells : devoted to molecular & cellular mechanisms, 2012-11, Vol.17 (11), p.897-912

2012

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Comparative Analysis of Two NGS-Based Platforms for Product-of-Conception Karyotyping

Genes, 2024-08, Vol.15 (8), p.1100

2024

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A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

Brain & development (Tokyo. 1979), 2019-03, Vol.41 (3), p.285-291

2019

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HORMAD1‐dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes

Genes to cells : devoted to molecular & cellular mechanisms, 2012-06, Vol.17 (6), p.439-454

2012

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A PDE3A mutation in familial hypertension and brachydactyly syndrome

Journal of human genetics, 2016-08, Vol.61 (8), p.701-703

2016

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An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

BMC cancer, 2020-11, Vol.20 (1), p.1162-1162, Article 1162

2020

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A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant

Congenital anomalies, 2022-09, Vol.62 (5), p.203-207

2022

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Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex

Human genome variation, 2022-02, Vol.9 (1), p.5-5, Article 5

2022

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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Scientific reports, 2022-08, Vol.12 (1), p.14589-14589, Article 14589

2022

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Corrigendum to “Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.” [Int. J. Cardiol., 274 (2019) 290–295]

International journal of cardiology, 2019-10, Vol.292, p.283-283

2019

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Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

Nature communications, 2013, Vol.4 (1), p.1592, Article 1592

2013

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Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

Journal of human genetics, 2017-09, Vol.62 (9), p.851-855

2017

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A Turner syndrome case associated with dic(Y;22)

Molecular cytogenetics, 2021-07, Vol.14 (1), p.1-34, Article 34

2021

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Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements

Frontiers in genetics, 2016-07, Vol.7, p.125-125

2016

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The Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis

Age-related decrease of meiotic cohesins in human oocytes

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant

An Analysis of Differentially Expressed Coding and Long Non-Coding RNAs in Multiple Models of Skeletal Muscle Atrophy

Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

Familial cardiac septal defect due to a novel nine‐base deletion in TBX20

A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation

Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease

HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity

Comparative Analysis of Two NGS-Based Platforms for Product-of-Conception Karyotyping

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

HORMAD1‐dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes

A PDE3A mutation in familial hypertension and brachydactyly syndrome

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma

A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant

Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Corrigendum to “Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.” [Int. J. Cardiol., 274 (2019) 290–295]

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

A Turner syndrome case associated with dic(Y;22)

Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements

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