H. Saitsu

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.

KDM6A Point Mutations Cause Kabuki Syndrome

N. Niikawa, N. Matsumoto, M. Shiina, 2013, Human mutation.

Human genetic variation database, a reference database of genetic variations in the Japanese population

K. Okamura, T. Kawaguchi, S. Tsuji, 2016, Journal of Human Genetics.

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

N. Matsumoto, S. Orimo, H. Saitsu, 2014, American journal of medical genetics. Part A.

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

Naomichi Matsumoto, Satoru Takeda, N. Matsumoto, 2014, Journal of Human Genetics.

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

Masahiro Ito, M. Kubota, N. Matsumoto, 2021, Brain and Development.

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

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

GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons

Takahiro A. Kato, S. Kanba, Y. Nakabeppu, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

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

Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

Takahiro A. Kato, C. Shaw, A. Hiwatashi, 2017, Epilepsia open.

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.

N. Matsumoto, H. Saitsu, K. Suda, 2017, The Journal of pediatrics.

De novo GABRA1 mutations in Ohtahara and West syndromes

Naomichi Matsumoto, Mitsuhiro Kato, Akihiko Ishiyama, 2016, Epilepsia.

GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

D. Lev, N. Matsumoto, M. Shiina, 2015, Epilepsia.

SPTAN1 encephalopathy: distinct phenotypes and genotypes

N. Matsumoto, Mitsuhiro Kato, J. Tohyama, 2015, Journal of Human Genetics.

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

T. Shiihara, N. Matsumoto, J. Azuma, 2015, Epilepsia.

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Naomichi Matsumoto, Mitsuhiro Kato, N. Matsumoto, 2015, Scientific Reports.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

E. Leshinsky‐Silver, D. Lev, M. Kubota, 2014, Epilepsia.

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

T. Ogata, N. Matsumoto, Y. Makita, 2015, Journal of Human Genetics.

Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain

K. Shiota, H. Saitsu, M. Ishibashi, 2010, Mechanisms of Development.

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

Y. Wada, N. Matsumoto, S. Saitoh, 2015, Clinical genetics.

Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.

H. Osaka, H. Saitsu, T. Niwa, 2015, Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine.

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

N. Matsumoto, M. Shiina, K. Ogata, 2014, Neurology.

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

Y. Kawasaki, H. Saitsu, M. Nakashima, 2021, Child neurology open.

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.

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis

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

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.

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

H. Shiraishi, N. Matsumoto, Mitsuhiro Kato, 2016, Brain and Development.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

E. Leshinsky‐Silver, D. Lev, N. Matsumoto, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

De novo 5q14.3 translocation 121.5‐kb upstream of MEF2C in a patient with severe intellectual disability and early‐onset epileptic encephalopathy

N. Miyake, Y. Tsurusaki, Mitsuhiro Kato, 2011, American journal of medical genetics. Part A.

Paternal mosaicism of an STXBP1 mutation in OS

M. Kubota, N. Matsumoto, N. Miyake, 2011, Clinical genetics.

Two novel heterozygous variants in ATP1A3 cause movement disorders

H. Saitsu, M. Nakashima, Kazuo Kubota, 2022, Human Genome Variation.

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

N. Matsumoto, S. Ito, N. Miyake, 2016, Journal of Human Genetics.

Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex

A. Fattal-Valevski, N. Matsumoto, S. Ben-Shachar, 2017, American journal of medical genetics. Part A.

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus‐Merzbacher‐like disease

N. Matsumoto, H. Osaka, H. Saitsu, 2010, Annals of neurology.

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

N. Matsumoto, H. Osaka, H. Saitsu, 2012, Molecular genetics and metabolism.

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

Y. Kuroiwa, N. Matsumoto, N. Miyake, 2013, Internal medicine.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Naomichi Matsumoto, Nobuhiko Okamoto, Yukifumi Monden, 2015, European Journal of Human Genetics.

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

Kenji Inoue, N. Matsumoto, Mitsuhiro Kato, 2020, Epilepsy & behavior reports.

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.

H. Koga, T. Hara, N. Matsumoto, 2018, European journal of medical genetics.

Rudimentary claws and pigmented nail-like structures on the distal tips of the digits of Wnt7a mutant mice: Wnt7A suppresses nail-like structure development in mice.

K. Shiota, N. Matsumoto, H. Saitsu, 2010, Birth defects research. Part A, Clinical and molecular teratology.

Bortezomib-resistance is associated with increased levels of proteasome subunits and apoptosis-avoidance

H. Saitsu, Jia-hua Yang, Yi-xin Wu, 2016, Oncotarget.

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.

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

T. Ogata, H. Saitsu, M. Nakashima, 2020, Molecular genetics & genomic medicine.

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum

N. Matsumoto, S. Kanai, T. Okanishi, 2018, Clinical genetics.

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2015, Journal of Human Genetics.

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

N. Matsumoto, N. Miyake, S. Miyatake, 2012, Internal medicine.

Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2010, Movement disorders : official journal of the Movement Disorder Society.

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

M. Miyajima, H. Arai, N. Matsumoto, 2016, Scientific Reports.

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42

S. Tsuji, Yukihiro Nakamura, N. Matsumoto, 2019, Neurobiology of Disease.

A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, American journal of medical genetics. Part A.

Expression dynamics of the LIM-homeobox genes, Lhx1 and Lhx9, in the diencephalon during chick development.

K. Shiota, H. Saitsu, M. Ishibashi, 2008, The International journal of developmental biology.

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity

N. Matsumoto, S. Morita, M. Taguri, 2012, Journal of Human Genetics.

Involvement of the axially condensed tail bud mesenchyme in normal and abnormal human posterior neural tube development

K. Shiota, H. Saitsu, 2008, Congenital anomalies.

Aberrant differentiation of the axially condensed tail bud mesenchyme in human embryos with lumbosacral myeloschisis

S. Yamada, K. Shiota, H. Saitsu, 2007, Anatomical record.

Development of the posterior neural tube in human embryos

S. Yamada, K. Shiota, H. Saitsu, 2004, Anatomy and Embryology.

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.

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.

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

K. Yokochi, N. Matsumoto, T. Okanishi, 2014, Brain and Development.

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III

K. Sakamoto, S. Tsuji, N. Matsumoto, 2012, Journal of the Neurological Sciences.

Clinical and genetic characteristics of patients with Doose syndrome

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

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

R. Pfundt, E. Kossoff, E. Leshinsky‐Silver, 2016, Epilepsia.

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

N. Matsumoto, T. Miyamoto, N. Miyake, 2012, Journal of Human Genetics.

Coffin–Siris syndrome is a SWI/SNF complex disorder

N. Matsumoto, Y. Makita, H. Ohashi, 2014, Clinical genetics.

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.

IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations.

T. Ogata, H. Saitsu, Takanobu Inoue, 2019, The Journal of clinical endocrinology and metabolism.

De novo IGF2 mutation on the paternal allele in a patient with Silver–Russell syndrome and ectrodactyly

T. Ogata, H. Saitsu, Hisakazu Nakajima, 2017, Human mutation.

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

T. Tsunoda, T. Morio, H. Shiraishi, 2017, Scientific Reports.

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

Y. Tsurusaki, H. Saitsu, K. Kurosawa, 2020, Neurology: Genetics.

Spatial and temporal expression of folate‐binding protein 1 (Fbp1) is closely associated with anterior neural tube closure in mice

K. Shiota, H. Nakano, H. Saitsu, 2002, Developmental dynamics : an official publication of the American Association of Anatomists.

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2016, Journal of Human Genetics.

Y Chromosome–Linked B and NK Cell Deficiency in Mice

K. Nakayama, N. Matsumoto, T. So, 2013, The Journal of Immunology.

A de novo deletion of 20q11.2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2011, American journal of medical genetics. Part A.

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2016, Journal of Human Genetics.

Expression of the mouse Fgf15 gene is directly initiated by Sonic hedgehog signaling in the diencephalon and midbrain

K. Shiota, Rika Nakayama, H. Saitsu, 2005, Developmental dynamics : an official publication of the American Association of Anatomists.

Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo

H. Saitsu, M. Nakashima, H. Miyajima, 2022, Neurology: Genetics.

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

H. Saitsu, M. Nakashima, K. Aoto, 2021, Brain and Development.

Cerebrovascular diseases in two patients with entire NSD1 deletion

H. Mori, N. Hattori, T. Hatano, 2021, Human genome variation.

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant

H. Saitsu, M. Nakashima, N. Shimojo, 2020, American journal of medical genetics. Part A.

Low‐prevalence mosaicism of chromosome 18q distal deletion identified by exome‐based copy number profiling in a child with cerebral hypomyelination

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2020, Congenital anomalies.

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2019, Journal of Human Genetics.

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

S. Saitoh, H. Saitsu, M. Nakashima, 2019, Epilepsia open.

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

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

Molecular genetic analysis of 30 families with Joubert syndrome

H. Shiraishi, N. Matsumoto, S. Saitoh, 2016, Clinical genetics.

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

Y. Hayashi, I. Nishino, N. Matsumoto, 2014, Neuromuscular Disorders.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

K. Yokochi, H. Arai, N. Matsumoto, 2012, American journal of human genetics.

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development

T. Ogata, H. Saitsu, R. Horikawa, 2020, Scientific Reports.

Folate receptors and neural tube closure

H. Saitsu, 2017, Congenital anomalies.

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

N. Matsumoto, H. Osaka, H. Saitsu, 2015, Journal of Neurology.

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation

N. Matsumoto, H. Saitsu, H. Azuma, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Clinical genetics.

The ATRX splicing variant c.21-1G>A is asymptomatic

N. Matsumoto, H. Saitsu, Hiroko Shimbo, 2022, Human Genome Variation.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

H. Shiraishi, N. Matsumoto, S. Saitoh, 2012, neurogenetics.

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

N. Matsumoto, H. Saitsu, K. Haginoya, 2016, Brain and Development.

Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2019, Internal medicine.

Novel VRK 1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2019 .

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

T. Ogata, H. Saitsu, G. Nishimura, 2019, Journal of Human Genetics.

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Annals of neurology.

Co‐occurrence of 22q11 deletion syndrome and hdr syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2013, American journal of medical genetics. Part A.

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

T. Walsh, M. King, Ming K. Lee, 2014, Journal of Human Genetics.

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Brain and Development.

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

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

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

T. Hara, N. Matsumoto, M. Sanefuji, 2016, BMC Neurology.

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

I. Nishino, N. Matsumoto, H. Saitsu, 2017, Journal of Human Genetics.

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

N. Matsumoto, J. Tohyama, H. Saitsu, 2014, Epileptic disorders : international epilepsy journal with videotape.

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

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

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

K. Yokochi, A. Kakita, H. Arai, 2013, Annals of neurology.

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

H. Osaka, H. Saitsu, M. Nakashima, 2022, Human Genome Variation.

A Male Case with ÃÂ²-Propeller Protein-Associated Neurodegeneration(BPAN) with Somatic Mosaic Mutation in WDR45

N. Matsumoto, Kazuhiro Ito, H. Saitsu, 2016 .

Stereotypic Hand Movements in β‐Propeller Protein‐Associated Neurodegeneration: First Video Report

N. Matsumoto, H. Saitsu, Y. Nakata, 2015, Movement disorders clinical practice.

Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN).

N. Matsumoto, H. Saitsu, Y. Takiyama, 2014, Neurology. Clinical practice.

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

N. Matsumoto, K. Ozono, N. Miyake, 2014, 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.

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly

N. Matsumoto, Yukichi Tanaka, N. Miyake, 2014, Journal of Human Genetics.

Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation

Machiko Kadoya, Y. Wada, N. Okamoto, 2021, Brain and Development.

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.

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

Y. Wada, N. Okamoto, H. Osaka, 2019, Molecular genetics & genomic medicine.

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

N. Matsumoto, H. Ikeda, N. Okamoto, 2017, Brain and Development.

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies

T. Matsuishi, N. Matsumoto, N. Okamoto, 2018, Brain and Development.

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2015, Journal of Human Genetics.

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan

H. Saitsu, N. Shimozawa, S. Takashima, 2018, Journal of Human Genetics.

Y. Okazaki, I. Nishino, N. Matsumoto, 2016, Clinical genetics.

Foxc2CreERT2 knock‐in mice mark stage‐specific Foxc2‐expressing cells during mouse organogenesis

S. Iseki, N. Yoshida, T. Kume, 2017, Congenital anomalies.

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.

Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation

H. Kayserili, N. Matsumoto, N. Miyake, 2014, American journal of medical genetics. Part A.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2018, Human Genome Variation.

A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome

N. Matsumoto, N. Miyake, S. Miyatake, 2013, American journal of medical genetics. Part A.

Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome

Y. Fukushima, N. Matsumoto, M. Shiina, 2010, Human mutation.

Callosal disconnection syndrome in symptomatic female carrier of Pelizaeus–Merzbacher disease

N. Matsumoto, H. Saitsu, R. Koide, 2015, Journal of the Neurological Sciences.

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

N. Matsumoto, M. Shiina, K. Ogata, 2013, Journal of Human Genetics.

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants

T. Ogata, H. Saitsu, Miho Sato, 2022, Ophthalmic genetics.

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction

Y. Wada, N. Matsumoto, N. Okamoto, 2020, Brain and Development.

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.

Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant

H. Saitsu, M. Nakashima, T. Fukuda, 2021, Journal of Human Genetics.

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

H. Tsutsumi, N. Matsumoto, H. Saitsu, 2015, Journal of Human Genetics.

Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i-GONAD Enables Detection of Endogenous CaMKIIα and β Proteins

H. Mutoh, H. Saitsu, K. Aoto, 2022, International journal of molecular sciences.

Cnpy3 2xHA mice reveal neuronal expression of Cnpy3 in the brain

H. Mutoh, H. Saitsu, K. Aoto, 2022, Journal of Neuroscience Methods.

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

H. Kitaura, A. Kakita, H. Mutoh, 2018, American journal of human genetics.

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation

N. Matsumoto, Mitsuhiro Kato, J. Tohyama, 2016, Brain and Development.

AKT3 and PIK3R2 mutations in two patients with megalencephaly‐related syndromes: MCAP and MPPH

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, Clinical genetics.

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome

A. Fukuda, Mitsuhiro Kato, H. Saitsu, 2022, Journal of Human Genetics.

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

Machiko Kadoya, Y. Wada, T. Ogata, 2021, Endocrine journal.

Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

T. Ogata, M. Hannibal, H. Saitsu, 2020, Journal of human genetics.

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Y. Fukushima, N. Matsumoto, F. Hirahara, 2011, Journal of Human Genetics.

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.

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of Human Genetics.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

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

Efficacy of long term weekly ACTH therapy for intractable epilepsy

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2015, 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.

Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.

T. Ogata, H. Saitsu, Takanobu Inoue, 2020, Endocrine journal.

Whole‐exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

A. Mégarbané, N. Matsumoto, N. Miyake, 2013, American journal of medical genetics. Part A.

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2022, Neurology: Genetics.

A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies

H. Mutoh, Mitsuhiro Kato, H. Saitsu, 2021, Journal of Human Genetics.

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

N. Matsumoto, S. Ito, N. Miyake, 2015, Journal of Human Genetics.

A novel PITX2 mutation causing iris hypoplasia

N. Matsumoto, M. Kimura, N. Miyake, 2014, Human Genome Variation.

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.

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2015, Human Genetics.

A genome-wide DNA methylation signature for SETD1B-related syndrome

Hyung-Goo Kim, N. Matsumoto, A. Essen, 2019, Clinical Epigenetics.

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

N. Matsumoto, M. Shiina, K. Ogata, 2011, American journal of human genetics.

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

N. Matsumoto, S. Kanai, T. Okanishi, 2018, Epilepsia open.

Quinidine therapy for West syndrome with KCNTI mutation: A case report

Yasuhiro Suzuki, N. Matsumoto, N. Okamoto, 2017, Brain and Development.

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2013, PloS one.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

T. Walsh, M. King, Ming K. Lee, 2013, Epilepsia.

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

N. Matsumoto, M. Shiina, K. Ogata, 2013, Human Genetics.

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

N. Matsumoto, R. Śmigiel, H. Saitsu, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series

K. Ohi, R. Hashimoto, M. Takeda, 2014, Annals of General Psychiatry.

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.

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation

N. Matsumoto, M. Shiina, K. Ogata, 2013, Human mutation.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

N. Matsumoto, Taki Nishimura, N. Miyake, 2013, Nature Genetics.

Characterization of SPATA5‐related encephalopathy in early childhood

M. Kubota, N. Matsumoto, E. Nanba, 2016, Clinical genetics.

STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

H. Arai, M. Kubota, N. Matsumoto, 2010, Epilepsia.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Naomichi Matsumoto, Masaya Kubota, Mitsuhiro Kato, 2013, American journal of human genetics.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

F. Benfenati, V. Narayanan, L. Maragliano, 2018, Brain : a journal of neurology.

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

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

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

H. Kitaura, A. Kakita, S. Kameyama, 2015, Annals of neurology.

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

H. Arai, N. Matsumoto, N. Miyake, 2015, Clinical genetics.

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human mutation.

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2020, Journal of Human Genetics.

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

T. Ogata, N. Matsumoto, H. Ikeda, 2018, Human Genetics.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

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

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

DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis

M. Suyama, Yutaka Suzuki, Tetsuya Sato, 2015, BMC Genomics.

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

Y. Kuroiwa, N. Matsumoto, S. Morita, 2012, Neurology.

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.

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of human genetics.

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

J. Lacaille, G. Rouleau, N. Matsumoto, 2012, European Journal of 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.

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

S. Takada, T. Ogata, M. Shiina, 2019, Journal of the American Society of Nephrology : JASN.

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

Y. Yamaguchi, N. Matsumoto, N. Miyake, 2018, Journal of Human Genetics.

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

K. Ihara, A. Fattal-Valevski, N. Matsumoto, 2016, Journal of Human Genetics.

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

S. Tsuji, N. Matsumoto, M. Shiina, 2014, Scientific Reports.

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

N. Matsumoto, Kyoko Takano, N. Miyake, 2014, Journal of Human Genetics.

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

M. Kubota, N. Matsumoto, T. Kinoshita, 2014, neurogenetics.

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, Journal of Human Genetics.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

T. Ogata, N. Matsumoto, J. Tohyama, 2019, Journal of Human Genetics.

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

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

T. Ogata, H. Saitsu, M. Kagami, 2020, Clinical case reports.

FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism

T. Ogata, H. Saitsu, M. Fukami, 2018, American journal of medical genetics. Part A.

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.

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, Neurology.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

S. Weiss, D. Chitayat, H. Arai, 2013, Epilepsia.

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

H. Tada, N. Matsumoto, N. Miyake, 2015, Clinical genetics.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

H. Saitsu, M. Nakashima, S. Kumada, 2022, neurogenetics.

Haploinsufficiency of STXBP1 and Ohtahara syndrome

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2010 .

A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy

S. Saitoh, H. Saitsu, M. Nakashima, 2019, American journal of medical genetics. Part A.

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation

N. Matsumoto, H. Osaka, H. Saitsu, 2018, Brain and Development.

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

H. Shiraishi, N. Matsumoto, S. Saitoh, 2016, Scientific Reports.

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

Yasuhiro Suzuki, N. Matsumoto, T. Kinoshita, 2013, neurogenetics.

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.

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

T. Ogata, H. Saitsu, K. Aoto, 2021, Clinical epigenetics.

Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

T. Ogata, M. Hannibal, H. Saitsu, 2020, Journal of Human Genetics.

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.

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

T. Ogata, H. Saitsu, S. Iijima, 2019, Journal of Human Genetics.

Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR

H. Saitsu, Fumiko Kato, K. Sakaguchi, 2022, Pediatric blood & cancer.

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.

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2018, Brain and Development.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria

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

Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel

Y. Ishii, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations

N. Brown, N. Niikawa, N. Matsumoto, 2016, Clinical genetics.

‘Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

N. Matsumoto, Kunihiro Yoshida, N. Miyake, 2014, Journal of Human Genetics.

De novo SOX11 mutations cause Coffin–Siris syndrome

K. Yoshiura, N. Matsumoto, M. Shiina, 2014, Nature Communications.

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies

T. Matsuishi, N. Matsumoto, T. Ishikawa, 2020, Journal of the Neurological Sciences.

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

N. Matsumoto, K. Ogata, Y. Makita, 2012, Journal of Human Genetics.

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

K. Yokochi, H. Mutoh, T. Shiihara, 2018, Annals of clinical and translational neurology.

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

S. Saito, N. Matsumoto, N. Miyake, 2014, Clinical genetics.

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Machiko Kadoya, Y. Wada, T. Ogata, 2022, Scientific Reports.

Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?

M. Canpolat, N. Matsumoto, H. Saitsu, 2014, Child's Nervous System.

A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2013, American journal of medical genetics. Part A.

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

S. Minoshima, H. Saitsu, T. Fukao, 2020, Ophthalmic genetics.

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Epilepsia.

Hedgehog signaling is involved in development of the neocortex

K. Shiota, H. Saitsu, M. Ishibashi, 2008, 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.

Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2011, Clinical genetics.

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

P. Deriziotis, S. Fisher, N. Matsumoto, 2017, Human mutation.

CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy

D. Lev, H. Bassan, N. Matsumoto, 2019, Journal of Pediatric Neurology.

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation

N. Matsumoto, N. Okamoto, H. Saitsu, 2017, Molecular genetics & genomic medicine.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Colin A. Johnson, S. Antonarakis, N. Matsumoto, 2016, American journal of human genetics.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

N. Matsumoto, Y. Eto, N. Miyake, 2013, neurogenetics.

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

N. Matsumoto, T. Miyamoto, N. Miyake, 2013, Molecular vision.

De novo mutations in epilepsy

N. Matsumoto, H. Saitsu, 2011, Developmental medicine and child neurology.

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

T. Ogata, N. Matsumoto, J. Tohyama, 2019, Journal of Human Genetics.

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects

K. Nagata, N. Matsumoto, S. Baba, 2018, Brain : a journal of neurology.

Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17)

N. Matsumoto, H. Saitsu, S. Hirabayashi, 2016, Brain and Development.

Early onset West syndrome with severe hypomyelination and coloboma‐like optic discs in a girl with SPTAN1 mutation

N. Matsumoto, H. Saitsu, B. Stražišar, 2012, Epilepsia.

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.

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia

N. Matsumoto, H. Osaka, Toshifumi Suzuki, 2017, Journal of the Neurological Sciences.

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

T. Akiyama, N. Matsumoto, J. Tohyama, 2017, Brain and Development.

ACAN biallelic variants in a girl with severe idiopathic short stature

T. Ogata, H. Saitsu, G. Nishimura, 2022, Journal of Human Genetics.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

H. Shiraishi, N. Matsumoto, S. Saitoh, 2012, neurogenetics.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

H. Morita, Y. Kuroiwa, S. Tsuji, 2011, American 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.

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing

T. Ogata, H. Sugimura, H. Saitsu, 2021, Clinical genetics.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

N. Matsumoto, Y. Eto, N. Miyake, 2013, neurogenetics.

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2021, Journal of Human Genetics.

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

I. Scheffer, G. Jackson, P. Crino, 2014, Epilepsia.

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

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

A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells

Y. Tsurusaki, H. Saitsu, M. Masuda, 2020, Surgery Today.

Novel FIG4 mutations in Yunis–Varon syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2013, Journal of Human Genetics.

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

T. Ogata, H. Saitsu, M. Nakashima, 2022, Journal of Human Genetics.

Cumulative Contents to Volume 38

V. S. Gupta, Japan., F. Pidcock, 2016, Brain and Development.

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

N. Matsumoto, H. Saitsu, S. Nabatame, 2020, Clinical case reports.

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.

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome

Y. Iimura, H. Sugano, M. Miyajima, 2014, Journal of Human Genetics.

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.

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

H. Osaka, H. Saitsu, M. Nakashima, 2020, Journal of Human Genetics.

Exome sequencing in a family with an X‐linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

Y. Fukushima, N. Matsumoto, N. Miyake, 2013, Clinical genetics.

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

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

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

T. Ogata, K. Kosaki, H. Saitsu, 2021, Journal of Human Genetics.

Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period.

K. Shiota, H. Saitsu, M. Ishibashi, 2007, Birth defects research. Part A, Clinical and molecular teratology.

Signaling cascade coordinating growth of dorsal and ventral tissues of the vertebrate brain, with special reference to the involvement of Sonic hedgehog signaling

K. Shiota, H. Saitsu, M. Ishibashi, 2005, Anatomical science international.

De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy

C. Shaw, T. Hara, N. Matsumoto, 2016, Annals of human genetics.

An integrated genetic analysis of epileptogenic brain malformed lesions

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

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

S. Takada, T. Ogata, H. Saitsu, 2021, Clinical epigenetics.

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

A. Barkovich, J. Takanashi, H. Mori, 2014, Brain and Development.

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report

H. Saitsu, M. Katsuno, Masakazu Takayama, 2022, American journal of ophthalmology case reports.

De novo deletion of 1q24.3‐q31.2 in a patient with severe growth retardation

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2010, American journal of medical genetics. Part A.

De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.

E. Sherr, Mitsuhiro Kato, H. Saitsu, 2022, Journal of human genetics.

A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, American journal of medical genetics. Part A.

Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE

N. Matsumoto, Kyoko Takano, N. Miyake, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

N. Matsumoto, Kyoko Takano, Y. Tsurusaki, 2015, Brain and Development.

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease

N. Matsumoto, H. Saitsu, A. Okumura, 2015, Brain and Development.

[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].

H. Saitsu, H. Tomimoto, R. Sasaki, 2013, Rinsho shinkeigaku = Clinical neurology.

De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient

T. Matsuishi, N. Matsumoto, H. Saitsu, 2015, American journal of medical genetics. Part A.

Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation

N. Matsumoto, H. Saitsu, R. Kira, 2016, Annals of neurology.

Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy

N. Matsumoto, S. Takeshita, H. Saitsu, 2016, Brain and Development.

Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.

N. Matsumoto, H. Ikeda, T. Okanishi, 2019, Epileptic disorders : international epilepsy journal with videotape.

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

A. Ryo, N. Matsumoto, N. Imamoto, 2015, American journal of human genetics.

A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay

K. Kikuchi, H. Saitsu, M. Nakashima, 2020, Brain and Development.

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation

N. Matsumoto, H. Saitsu, M. Sasaki, 2015, Brain and Development.

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

N. Matsumoto, T. Tominaga, M. Iwasaki, 2014, Brain and Development.

Different X‐linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Y. Goto, N. Matsumoto, N. Miyake, 2016, Clinical genetics.

COL4A1 and COL4A2 Mutations Analyses with Perinatal Arterial ?schemic Stroke

N. Matsumoto, H. Saitsu, H. Kodera, 2020 .

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

H. Osaka, H. Saitsu, A. Ohtake, 2021, Molecular genetics and metabolism reports.

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance

H. Saitsu, M. Nakashima, Akiyo Yamamoto, 2020, Brain and Development.

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition

N. Matsumoto, H. Osaka, H. Saitsu, 2016, Brain and Development.

S. Saitoh, H. Saitsu, M. Nakashima, 2021, Brain and Development.

Multiple hemangiomas (hepatic small vessel neoplasia) in the liver with Budd-Chiari syndrome.

H. Saitsu, M. Nakashima, K. Notohara, 2023, Virchows Archiv : an international journal of pathology.

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

N. Matsumoto, Tomomi Tanaka, T. Kinoshita, 2018, Brain and Development.

FDG-PET study of patients with Leigh syndrome

N. Matsumoto, N. Miyake, H. Saitsu, 2016, Journal of the Neurological Sciences.

De novo DNM1 mutations in two cases of epileptic encephalopathy

N. Matsumoto, M. Shiina, K. Ogata, 2016, Epilepsia.

Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough

T. Iwaki, H. Shibata, H. Saitsu, 2020, Journal of Human Genetics.

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

N. Matsumoto, A. Yamashita, N. Miyake, 2014, Journal of Human Genetics.

A novel homozygous mutation of DARS2 may cause a severe LBSL variant

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2011, Clinical genetics.

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome

A. Fattal-Valevski, N. Matsumoto, Ann Saada, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

The first report of Japanese patients with asparagine synthetase deficiency

N. Matsumoto, M. Shiina, K. Ogata, 2017, Brain and Development.

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

N. Matsumoto, H. Saitsu, M. Nakashima, 2018, Journal of Human Genetics.

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

M. Akiyama, Yasuhiro Suzuki, N. Matsumoto, 2016, The Journal of investigative dermatology.

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

Y. Wada, S. Nomura, T. Ogata, 2022, Genes.

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

N. Matsumoto, S. Ito, N. Miyake, 2012, Journal of Human Genetics.

De novo ATP1A3 variants cause polymicrogyria

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

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

S. Takada, T. Ogata, R. Kosaki, 2019, European Journal of Human Genetics.

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

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

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

D. Chitayat, N. Matsumoto, Hironori Ito, 2013, American journal of human genetics.

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant

H. Sasano, H. Saitsu, M. Nakashima, 2020, PloS one.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

N. Matsumoto, H. Saitsu, S. Eda, 2019, Molecular genetics & genomic medicine.

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)

N. Matsumoto, S. Miyatake, E. Koshimizu, 2019, Seizure.

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.

T. Ogata, T. Kawai, H. Saitsu, 2019, European journal of medical genetics.

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

T. Tsunoda, T. Morio, H. Shiraishi, 2017, Scientific Reports.

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.

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2011, Journal of Medical Genetics.

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

E. Leshinsky‐Silver, D. Lev, N. Matsumoto, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

N. Matsumoto, T. Kinoshita, N. Miyake, 2014, Epilepsia.

The first genetically confirmed Japanese patient with mucolipidosis type IV

N. Matsumoto, H. Saitsu, C. Ohba, 2016, Clinical case reports.

Expression of the Mouse Fgf15 Gene Is Directly Initiated by Sonic Hedgehog Signaling in the Diencephalon and Midbrain

K. Shiota, Rika Nakayama, H. Saitsu, 2006 .

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan

N. Matsumoto, H. Saitsu, K. Kurosawa, 2023, Frontiers in Neurology.

A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis

H. Saitsu, M. Nakashima, M. Sasaki, 2020, Brain & development (Tokyo. 1979).

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

N. Matsumoto, M. Shiina, K. Ogata, 2015, Journal of Human Genetics.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations

S. Minoshima, T. Ogata, H. Saitsu, 2018, Japanese Journal of Ophthalmology.

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

N. Matsumoto, M. Shiina, K. Ogata, 2014, Human Genetics.

Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human iPSC model for STXBP1‐related epileptic encephalopathy

N. Matsumoto, T. Nakahata, H. Hosoi, 2016, Epilepsia.

[Successful treatment with levetiracetam in a case of Ohtahara syndrome caused by STXBP1 mutation].

H. Hosoi, H. Saitsu, M. Morimoto, 2013, No to hattatsu = Brain and development.

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.

Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus

T. Ogata, H. Saitsu, K. Nakabayashi, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Nanopore sequencing reveals a structural alteration of mirror‐image duplicated genes in a genome‐editing mouse line

H. Saitsu, M. Nakashima, K. Aoto, 2019, Congenital anomalies.

A genome-wide DNA methylation signature for SETD1B-related syndrome

N. Matsumoto, H. Saitsu, B. Sadikovic, 2019, Clinical epigenetics.

WDR45 mutations in three male patients with West syndrome

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

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2015, Journal of Human Genetics.

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

K. Ihara, N. Matsumoto, S. Miyatake, 2017, European Journal of Medical Genetics.

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

S. Minoshima, H. Saitsu, Miho Sato, 2018, Scientific Reports.

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

N. Matsumoto, H. Saitsu, M. Nakashima, 2018, Brain and Development.

Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling.

N. Matsumoto, H. Saitsu, A. Fujita, 2023, Heliyon.

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

Yasuhiro Suzuki, N. Matsumoto, T. Kinoshita, 2014, neurogenetics.

POLR3A variants in striatal involvement without diffuse hypomyelination

T. Ogata, H. Saitsu, M. Nakashima, 2020, Brain & development (Tokyo. 1979).

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2018, Human Genome Variation.

Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ

H. Mutoh, A. Fukuda, H. Saitsu, 2022, Journal of neuroscience research.

Progressive cerebral atrophies in three children with COL4A1 mutations

N. Matsumoto, T. Okanishi, Y. Maegaki, 2021, Brain and Development.

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

N. Matsumoto, H. Saitsu, M. Nakashima, 2018, Journal of Human Genetics.

Expression of Fgf15 is regulated by both activator and repressor forms of Gli2 in vitro.

K. Shiota, H. Saitsu, M. Ishibashi, 2008, Biochemical and biophysical research communications.

Analysis of Fibroblast growth factor 15 cis-elements reveals two conserved enhancers which are closely related to cardiac outflow tract development

K. Shiota, H. Saitsu, M. Ishibashi, 2006, Mechanisms of Development.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

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

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies

H. Ikeda, Mitsuhiro Kato, H. Saitsu, 2021, 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.

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

H. Saitsu, K. Haginoya, N. Hino-fukuyo, 2016, Pediatric neurology.

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

N. Matsumoto, Y. Sakai, H. Saitsu, 2018, Seizure.

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

T. Ogata, H. Saitsu, K. Yanagi, 2018, Scientific Reports.

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

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

Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2021, Brain and Development.

A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome

H. Saitsu, M. Nakashima, S. Fukumura, 2022, Brain and Development.

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa

H. Kanegane, N. Matsumoto, N. Miyake, 2011, International journal of immunogenetics.

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

T. Ogata, H. Saitsu, S. Iijima, 2019, Journal of Human Genetics.

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations

N. Matsumoto, H. Saitsu, H. Morita, 2016, Brain and Development.

A Novel Constitutively Active c . 98 G > C , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization

K. Nagata, H. Saitsu, M. Nakashima, 2023, Human Mutation.

A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation

Katsuhiro Kobayashi, T. Akiyama, H. Saitsu, 2023, Brain and Development.

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene

H. Saitsu, M. Kosuga, T. Yokoi, 2023, Human Genome Variation.

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

H. Saitsu, M. Nakashima, Sachiko Miyamoto, 2023, Journal of Human Genetics.

H. Saitsu, K. Nagasaki, T. Ogata, 2022, American journal of medical genetics. Part A.

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review

T. Ogata, H. Saitsu, S. Sano, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy

H. Saitsu, J. Takanashi, S. Aoki, 2022, Brain and Development.

A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia

T. Ogata, H. Saitsu, S. Okada, 2022, American journal of medical genetics. Part A.

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.

D. Lev, N. Matsumoto, H. Saitsu, 2020, European journal of medical genetics.

TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.

H. Saitsu, M. Fukami, T. Ishikawa, 2020, European journal of medical genetics.

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2023, Frontiers in Genetics.

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report

N. Matsumoto, Takao Takahashi, Mitsuhiro Kato, 2016, Pediatrics.