T. Mizuguchi

发表

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

T. Hara, T. Matsuishi, A. Takata, 2018, Cell reports.

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

H. Arai, N. Matsumoto, T. Miyamoto, 2017, Journal of Human Genetics.

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Long Guo, A. Takata, C. Kim, 2020, Human mutation.

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases

N. Matsumoto, T. Toyota, N. Miyake, 2018, Journal of Human Genetics.

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

Kengo Kinoshita, Masao Nagasaki, Katsushi Tokunaga, 2019, Journal of Human Genetics.

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Naomichi Matsumoto, Mitsuhiro Kato, Hitoshi Osaka, 2008, Nature Genetics.

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy

K. Yokochi, N. Matsumoto, N. Miyake, 2018, Human mutation.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Martin C. Frith, Naomichi Matsumoto, Yoshihiro Kino, 2019, Genome Biology.

Robust detection of tandem repeat expansions from long DNA reads

M. Frith, N. Matsumoto, T. Toyota, 2018, bioRxiv.

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Naomichi Matsumoto, Kenji Kurosawa, Yoshio Makita, 2006, American journal of medical genetics. Part A.

A novel de novo frameshift variant in SETD1B causes epilepsy

A. Takata, N. Matsumoto, N. Miyake, 2019, Journal of Human Genetics.

Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome

N. Matsumoto, N. Okamoto, T. Mizuguchi, 2021, Human mutation.

A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of Human Genetics.

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

N. Matsumoto, K. Kosaki, T. Mizuguchi, 2020, Developmental medicine and child neurology.

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing

A. Takata, N. Matsumoto, M. Taguri, 2019, Journal of Human Genetics.

A novel SLC9A1 mutation causes cerebellar ataxia

A. Takata, N. Matsumoto, S. Ito, 2018, Journal of Human Genetics.

Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split‐foot malformation and hearing loss

N. Matsumoto, N. Miyake, H. Saitsu, 2009, American journal of medical genetics. Part A.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

J. Towbin, I. Nonaka, Y. Hayashi, 2017, American journal of human genetics.

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features

A. Takata, N. Matsumoto, N. Miyake, 2018, Journal of Human Genetics.

Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

Y. Yamaguchi, N. Matsumoto, T. Baba, 2020, Internal medicine.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly

N. Matsumoto, Y. Kohno, T. Nishizawa, 2010, Genesis.

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

A. Takata, N. Matsumoto, N. Miyake, 2022, Genome Medicine.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

S. Antonarakis, A. Takata, N. Matsumoto, 2020, Human mutation.

Detection of copy number variations in epilepsy using exome data

A. Fattal-Valevski, A. Takata, M. Kubota, 2018, Clinical genetics.

FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

N. Matsumoto, H. Saitsu, T. Mizuguchi, 2007, American journal of medical genetics. Part A.

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes

R. Fodde, T. Ogata, N. Matsumoto, 2006, American journal of medical genetics. Part A.

Heterozygous TGFBR2 mutations in Marfan syndrome

Yusuke Nakamura, Naomichi Matsumoto, Mathilde Varret, 2004, Nature Genetics.

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome

N. Matsumoto, N. Miyake, H. Saitsu, 2008, American journal of medical genetics. Part A.

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

N. Niikawa, K. Yoshiura, N. Matsumoto, 2004, Journal of Human Genetics.

Clinical and genetic characteristics of patients with Doose syndrome

N. Matsumoto, H. Ikeda, Y. Maegaki, 2020, Epilepsia open.

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia

A. Takata, N. Matsumoto, N. Miyake, 2020, Human Genome Variation.

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

I. Nishino, N. Matsumoto, T. Mizuguchi, 2021, Internal medicine.

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

N. Matsumoto, F. Hirahara, N. Miyake, 2009, Cardiology in the Young.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

A. Takata, N. Matsumoto, A. Itakura, 2020, Journal of Human Genetics.

Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing.

N. Matsumoto, N. Miyake, S. Miyatake, 2020, Genomics.

Nonsense variants of STAG2 result in distinct congenital anomalies

N. Matsumoto, A. Itakura, S. Takeda, 2020, Human Genome Variation.

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

N. Matsumoto, T. Mizuguchi, K. Haginoya, 2020, European journal of medical genetics.

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

N. Matsumoto, Y. Matsubara, T. Mizuguchi, 2019, Journal of Human Genetics.

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

A. Takata, N. Matsumoto, M. Taguri, 2019, Arthritis Research & Therapy.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

T. Matsuishi, A. Fattal-Valevski, A. Takata, 2019, Journal of Medical Genetics.

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

N. Matsumoto, A. Itakura, S. Takeda, 2019, Journal of Human Genetics.

A. Takata, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2016, American journal of medical genetics. Part A.

Williams–Beuren syndrome with brain malformation and hypertrophic cardiomyopathy

N. Matsumoto, T. Mizuguchi, K. Ichihashi, 2014, Brain and Development.

CDKL5 disruption by t(X;18) in a girl with West syndrome

N. Matsumoto, H. Saitsu, T. Mizuguchi, 2008, Clinical genetics.

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

K. Yokochi, M. Frith, H. Mori, 2018, Annals of neurology.

Narrowing candidate region for monosomy 9p syndrome to a 4.7‐Mb segment at 9p22.2‐p23

N. Niikawa, K. Yoshiura, N. Matsumoto, 2006, American journal of medical genetics. Part A.

A novel mutation in SLC1A3 causes episodic ataxia

A. Takata, N. Matsumoto, M. Shiina, 2017, Journal of Human Genetics.

A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23

N. Niikawa, A. Mégarbané, N. Matsumoto, 2009, American journal of medical genetics. Part A.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Y. Fukushima, N. Niikawa, N. Matsumoto, 2013, American journal of medical genetics. Part A.

Angelman syndrome caused by an identical familial 1,487‐kb deletion

N. Niikawa, N. Matsumoto, T. Ohta, 2007, American journal of medical genetics. Part A.

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

A. Takata, N. Matsumoto, N. Miyake, 2019, Journal of Human Genetics.

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia

A. Fattal-Valevski, A. Takata, N. Matsumoto, 2018, Journal of Human Genetics.

Confirmation of SLC5A7‐related distal hereditary motor neuropathy 7 in a family outside Wales

A. Takata, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency

H. Takada, N. Matsumoto, T. Mizuguchi, 2020, Brain and Development.

Novel SUZ12 mutations in Weaver‐like syndrome

A. Takata, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Distal 2q duplication in a patient with intellectual disability

N. Matsumoto, N. Miyake, S. Miyatake, 2022, Human Genome Variation.

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

A. Takata, N. Matsumoto, S. Ito, 2018, Journal of Human Genetics.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

A. Takata, N. Matsumoto, M. Shiina, 2018, Human molecular genetics.

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation

H. Arai, N. Matsumoto, N. Okamoto, 2020, Congenital anomalies.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

A. Kakita, A. Fattal-Valevski, I. Nishino, 2016, American journal of human genetics.

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

A. Bayat, N. Matsumoto, K. Ogata, 2022, Human Genetics.

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Human Genetics.

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

Novel CLTC variants cause new brain and kidney phenotypes

N. Matsumoto, S. Miyatake, E. Koshimizu, 2021, Journal of Human Genetics.

A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

K. Misawa, N. Matsumoto, S. Miyatake, 2022, Journal of Human Genetics.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

K. Yokochi, D. Lev, A. Takata, 2018, Journal of Human Genetics.

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

K. Misawa, N. Matsumoto, S. Miyatake, 2022, npj Genomic Medicine.

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

K. Kinoshita, M. Nagasaki, N. Matsumoto, 2019, Journal of Human Genetics.

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.

M. Komada, N. Matsumoto, S. Saitoh, 2010, American journal of human genetics.

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

N. Matsumoto, F. Hirahara, T. Mizuguchi, 2006, Journal of Human Genetics.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

A. Takata, I. Nishino, N. Matsumoto, 2018, Genetics in Medicine.

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma

S. Kameyama, A. Takata, N. Matsumoto, 2019, Neurology.

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia

A. Takata, N. Matsumoto, M. Shiina, 2018, British journal of haematology.

Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy

A. Takata, N. Matsumoto, N. Miyake, 2017, Clinical genetics.

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

M. Frith, K. Katoh, G. Sobue, 2019, Nature Genetics.

SMOC1 is essential for ocular and limb development in humans and mice.

N. Niikawa, E. Chouery, A. Mégarbané, 2011, American journal of human genetics.

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Fumiaki Tanaka, Hiroshi Doi, Martin C Frith, 2019, Nature Genetics.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

A. Takata, I. Nishino, N. Matsumoto, 2018, Genetics in Medicine.

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation

N. Matsumoto, H. Osaka, Ayumi Matsumoto, 2019, Brain and Development.

A novel de novo frameshift variant in SETD1B causes epilepsy

A. Takata, N. Matsumoto, N. Miyake, 2019, Journal of Human Genetics.

A novel NONO variant that causes developmental delay and cardiac phenotypes

K. Misawa, N. Matsumoto, Y. Shinkai, 2023, Scientific Reports.

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

A. Bayat, N. Matsumoto, K. Ogata, 2022, Human Genetics.

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Yoshihiko Saito, A. Takata, H. Arai, 2020, Journal of Medical Genetics.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

N. Matsumoto, N. Miyake, H. Saitsu, 2008, Clinical genetics.

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

D. Lev, N. Matsumoto, M. Shiina, 2018, Annals of neurology.

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

A. Ryo, K. Ihara, N. Matsumoto, 2017, Human mutation.

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy

G. Sobue, N. Matsumoto, N. Miyake, 2019, Annals of neurology.

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

N. Matsumoto, Z. Stark, N. Miyake, 2017, Journal of Human Genetics.

Array comparative genomic hybridization analysis in first‐trimester spontaneous abortions with ‘normal’ karyotypes

N. Niikawa, N. Matsumoto, N. Miyake, 2006, American journal of medical genetics. Part A.

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders

N. Matsumoto, T. Mizuguchi, 2006, Journal of Human Genetics.

Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion

N. Matsumoto, M. Oguri, T. Okanishi, 2021, Brain and Development.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

K. Yamakawa, A. Takata, N. Matsumoto, 2018, European Journal of Human Genetics.

GRIN2D variants in three cases of developmental and epileptic encephalopathy

A. Takata, N. Matsumoto, M. Shiina, 2018, Clinical genetics.

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

S. Kameyama, N. Matsumoto, N. Miyake, 2016, Annals of clinical and translational neurology.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria

A. Takata, N. Matsumoto, N. Miyake, 2018, Annals of neurology.

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl

T. Matsuishi, N. Matsumoto, Tomoko Saikusa, 2018, Brain and Development.

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia

N. Niikawa, M. Itokawa, R. Hashimoto, 2008, Journal of Human Genetics.

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.

A. R. Mohamed, A. Takata, Y. Goshima, 2020, American journal of human genetics.

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

N. Matsumoto, H. Osaka, T. Mizuguchi, 2021, Human genome variation.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

K. Yokochi, K. Misawa, C. Kim, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Y. Nomura, H. Mutoh, A. Takata, 2021, Nature Communications.

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

N. Matsumoto, K. Ogata, A. Itakura, 2021, Journal of Human Genetics.

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy

N. Matsumoto, K. Ogata, Makoto Kobayashi, 2021, Clinical genetics.

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

N. Matsumoto, K. Ogata, A. Suzuki, 2021, Human molecular genetics.

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder

M. Frith, M. Kinoshita, N. Matsumoto, 2021, Journal of Human Genetics.

Molecular genetics of Marfan syndrome

G. Jondeau, N. Matsumoto, C. Boileau, 2005, Current opinion in cardiology.

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

A. Takata, T. Ogata, N. Matsumoto, 2019, Human molecular genetics.

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

A. Takata, N. Matsumoto, M. Shiina, 2019, American journal of human genetics.

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss

N. Matsumoto, M. Shiina, K. Ogata, 2018, Journal of Human Genetics.

Craniosynostosis in a patient with a de novo 15q15‐q22 deletion

N. Matsumoto, N. Okamoto, Y. Hiraki, 2008, American journal of medical genetics. Part A.

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

Kosuke Watanabe, A. Takata, N. Matsumoto, 2019, BMC Neurology.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

A. Wenger, N. Matsumoto, K. Ohbo, 2021, Clinical epigenetics.

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts

A. Takata, N. Matsumoto, S. Ito, 2017, Clinical genetics.

Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy.

Wei‐Ju Lee, Yi-Chung Lee, K. Yu, 2022, Brain : a journal of neurology.

GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies

Yi-Chung Lee, N. Matsumoto, Y. Liao, 2021, Neurology.

An integrated genetic analysis of epileptogenic brain malformed lesions

Y. Iimura, H. Sugano, A. Kakita, 2023, Acta Neuropathologica Communications.

SOFT syndrome in a patient from Chile

A. Takata, N. Matsumoto, N. Miyake, 2019, American journal of medical genetics. Part A.

A Case of Schizophrenia with Chromosomal Microdeletion of 17p11.2 Containing a Myelin-Related Gene PMP22

N. Matsumoto, H. Kunugi, Y. Ozeki, 2008 .

KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report

Tomohiro Watanabe, N. Matsumoto, T. Mizuguchi, 2020, Brain & development (Tokyo. 1979).

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

N. Niikawa, N. Matsumoto, T. Ohta, 2005, American journal of medical genetics. Part A.

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK

A. Takata, N. Matsumoto, M. Shiina, 2017, Clinical genetics.

Clinical variations of epileptic syndrome associated with PACS2 variant

N. Matsumoto, Mitsuhiro Kato, M. Nakashima, 2020, Brain and Development.

Novel CLTC variants cause new brain and kidney phenotypes

C. Kim, N. Matsumoto, S. Miyatake, 2021, Journal of Human Genetics.

Monogenic causes of pigmentary mosaicism

H. Asada, N. Matsumoto, N. Miyake, 2022, Human Genetics.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Mahshid S. Azamian, S. Lalani, T. Ogata, 2021, Frontiers in Cell and Developmental Biology.

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

N. Matsumoto, S. Miyatake, E. Koshimizu, 2023, Radiology Case Reports.

De novo ATP1A3 variants cause polymicrogyria

T. Tsunoda, T. Hara, A. Takata, 2021, Science Advances.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

K. Yamakawa, A. Takata, N. Matsumoto, 2018, European Journal of Human Genetics.

Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease

M. Frith, G. Sobue, N. Matsumoto, 2019, bioRxiv.

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

A. Takata, N. Matsumoto, N. Miyake, 2020, Journal of Human Genetics.

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

K. Misawa, C. Kim, N. Matsumoto, 2022, Genomics.

A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation

N. Matsumoto, M. Urushihara, T. Mizuguchi, 2023, Brain and Development.

Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.

A. Takata, M. Kinoshita, N. Matsumoto, 2021, Brain : a journal of neurology.

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit‐Robo Rho GTPase activating protein 2 (SRGAP2)

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, American journal of medical genetics. Part A.

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

N. Matsumoto, Mitsuhiro Kato, M. Nakashima, 2020, Neurology: Genetics.

WDR45 mutations in three male patients with West syndrome

N. Matsumoto, Kyoko Takano, N. Miyake, 2016, Journal of Human Genetics.

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction

N. Matsumoto, N. Miyake, N. Okamoto, 2020, Journal of Human Genetics.

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

N. Matsumoto, S. Miyatake, E. Koshimizu, 2021, Journal of Human Genetics.

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

N. Matsumoto, S. Miyatake, E. Koshimizu, 2021, Journal of Human Genetics.

A novel mutation in SLC1A3 causes episodic ataxia

A. Takata, N. Matsumoto, M. Shiina, 2018, Journal of Human Genetics.

Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

Yusuke Kurita, N. Matsumoto, M. Yamada, 2022, Brain : a journal of neurology.

A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association

K. Misawa, K. Nagata, N. Matsumoto, 2023, Scientific reports.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

H. Mandel, N. Matsumoto, M. Shiina, 2017, Journal of Human Genetics.

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

A. Takata, N. Matsumoto, N. Miyake, 2019, Journal of Human Genetics.

A familial case of PDE10A‐associated childhood‐onset chorea with bilateral striatal lesions

N. Matsumoto, N. Miyake, S. Miyatake, 2018, Movement disorders : official journal of the Movement Disorder Society.

Reply to "GGC Repeat Expansion of NOTCH2NLC is rare in European Leukoencephalopathy".

G. Sobue, N. Matsumoto, N. Miyake, 2020, Annals of neurology.

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

N. Matsumoto, K. Ogata, S. Miyatake, 2019, Brain and Development.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

K. Yokochi, D. Lev, A. Takata, 2018, Journal of Human Genetics.

Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1)

N. Matsumoto, H. Ohashi, Y. Hiraki, 2006, American journal of medical genetics. Part A.

A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia

A. Takata, N. Matsumoto, M. Shiina, 2018, Clinical genetics.

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

M. Frith, K. Misawa, N. Matsumoto, 2023, Life Science Alliance.

NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy

Yi-Chung Lee, N. Matsumoto, Y. Liao, 2023, Stroke.

Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

K. Misawa, N. Matsumoto, A. Itakura, 2023, Journal of Human Genetics.

Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans

K. Misawa, N. Matsumoto, H. Mizusawa, 2023, Genome research.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome

A. Takata, N. Matsumoto, M. Shiina, 2018, Clinical genetics.

Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.

K. Misawa, N. Matsumoto, S. Miyatake, 2023, Journal of human genetics.

Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant

N. Matsumoto, T. Mizuguchi, K. Haginoya, 2021, Brain and Development.

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2011, Human Genetics.

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

A. Takata, N. Matsumoto, S. Ito, 2018, Journal of Human Genetics.

SMOC1 is essential for ocular and limb development in humans and mice.

N. Niikawa, E. Chouery, A. Mégarbané, 2011, American journal of human genetics.

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia

A. Takata, N. Matsumoto, M. Shiina, 2018, British journal of haematology.

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias

K. Misawa, N. Matsumoto, S. Miyatake, 2023, Journal of Human Genetics.

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of human genetics.