Toshiyuki Yamamoto

发表

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

N. Okamoto, T. Kaname, Eriko Nishi, 2021, American journal of medical genetics. Part A.

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

J. Opitz, Y. Fukushima, N. Niikawa, 2007, American journal of human genetics.

Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.

Toshiyuki Yamamoto, Taichi Imaizumi, A. Kumakura, 2018, Intractable & rare diseases research.

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study

H. Ikeda, H. Oguni, M. Ōsawa, 2010, Epilepsia.

A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report

I. Shimomura, Y. Obata, H. Nishizawa, 2021, Journal of diabetes investigation.

Clinical impacts of genomic copy number gains at Xq28

K. Yokochi, N. Okamoto, Toshiyuki Yamamoto, 2014, Human Genome Variation.

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

S. Saitoh, J. Tohyama, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto-Shimojima, 2019, American journal of medical genetics. Part A.

Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers

E. Nanba, K. Takeshita, Takashi Ito, 1996, Brain and Development.

Niemann–Pick type C disease: Accelerated neurofibrillary tangle formation and amyloid β deposition associated with apolipoprotein E ε4 homozygosity

E. Nanba, S. Murayama, Toshiyuki Yamamoto, 2002, Annals of neurology.

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

J. Tohyama, Toshiyuki Yamamoto, K. Shimojima, 2017, Human Genome Variation.

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

K. Arita, H. Tokimura, Toshiyuki Yamamoto, 2016, European journal of medical genetics.

Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

I. Scheffer, S. Berkovic, R. Kaplan, 2004, Annals of neurology.

Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

A. Okumura, Toshiyuki Yamamoto, Toshiaki Shimizu, 2013, Brain and Development.

Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications

H. Ikeda, Y. Inoue, Toshiyuki Yamamoto, 2015, Brain and Development.

Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies.

E. Naito, Toshiyuki Yamamoto, A. Oka, 2005, Pediatric neurology.

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

Masahiro Ito, T. Nishizawa, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.

Y. Goto, J. Tohyama, H. Oguni, 2009, Genomics.

An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2015, American journal of medical genetics. Part A.

Genomic copy number variations at 17p13.3 and epileptogenesis

Kayoko Saito, Toshiyuki Yamamoto, Yukitoshi Takahashi, 2010, Epilepsy Research.

A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer

Masakazu Yamamoto, K. Tamura, Kayoko Saito, 2018, Human Genome Variation.

Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities.

T. Toki, E. Ito, Takashi Yamamoto, 2016, Cell reports.

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication

Toshiyuki Yamamoto, T. Fujita, S. Yasumoto, 2012, Journal of Human Genetics.

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome

T. Yoshimoto, K. Takekoshi, Toshiyuki Yamamoto, 2017, American journal of medical genetics. Part A.

Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex

E. Nanba, Toshiyuki Yamamoto, H. Ninomiya, 2002, Brain and Development.

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

M. Mizuguchi, E. Nanba, K. Takeshita, 1999, Journal of Human Genetics.

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Toshiyuki Yamamoto, K. Shimoji, K. Shimojima, 2016, Congenital anomalies.

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome

Nobuhiko Okamoto, A. Huber, T. Nishizawa, 2010, Journal of Medical Genetics.

Characteristics of 2p15‐p16.1 microdeletion syndrome: Review and description of two additional patients

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2015, Congenital anomalies.

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

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

ACTA2 is not a major disease-causing gene for moyamoya disease

Toshiyuki Yamamoto, K. Shimojima, 2009, Journal of Human Genetics.

Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy

Toshiyuki Yamamoto, S. Akaboshi, J. Pipo, 2001, Brain and Development.

A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

Toshiyuki Yamamoto, S. Nagata, Taichi Imaizumi, 2020 .

Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB

T. Nagayasu, K. Ariyoshi, Toshiyuki Yamamoto, 2010, Journal of Medical Genetics.

Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation

T. Maehara, T. Morio, S. Baba, 2017, Brain and Development.

Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits

N. Shimizu, R. Matsuoka, N. Matsumoto, 2008, American journal of medical genetics. Part A.

Whole gene deletion mutation of HNF1B and exonic aberration mutations of GCK and HNF1B in patients with MODY in Japan

Y. Iwamoto, N. Iwasaki, Toshiyuki Yamamoto, 2012, Diabetology International.

Two different types of infantile renal cell carcinomas associated with tuberous sclerosis.

T. Oyama, Toshiyuki Yamamoto, N. Oyachi, 2011, Journal of pediatric surgery.

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Katsuhiro Kobayashi, T. Akiyama, H. Kurahashi, 2019, Brain and Development.

Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome

M. Hattori, Toshiyuki Yamamoto, Y. Harita, 2022, Pediatric Nephrology.

Constitutional WT 1 mutations correlate with clinical features in children with progressive nephropathy

Y. Tsutsumi, E. Nanba, Toshiyuki Yamamoto, 2000 .

Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2

Toshiyuki Yamamoto, Y. Hiromine, H. Ikegami, 2018, Journal of the Endocrine Society.

Bilateral Periventricular Nodular Heterotopia With Megalencephaly

K. Haginoya, Toshiyuki Yamamoto, K. Wakusawa, 2014, Journal of child neurology.

Whole‐exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia

T. Furukawa, N. Okamoto, A. Okumura, 2013, Neuropathology : official journal of the Japanese Society of Neuropathology.

Brainstem disconnection associated with nodular heterotopia and proatlantal arteries

A. Barkovich, A. Okumura, Toshiyuki Yamamoto, 2009, American journal of medical genetics. Part A.

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

Toshiyuki Yamamoto, T. Ando, K. Shimojima, 2015, Epilepsy Research.

Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity.

E. Nanba, S. Murayama, Toshiyuki Yamamoto, 2002, Annals of neurology.

Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.

E. Engle, Y. Nakata, Toshiyuki Yamamoto, 2014, Pediatric neurology.

9q22 Deletion - First Familial Case

S. Knuutila, Toshiyuki Yamamoto, L. Siggberg, 2011, Orphanet journal of rare diseases.

Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

Y. Inoue, Toshiyuki Yamamoto, Yukitoshi Takahashi, 2013, American journal of medical genetics. Part A.

PRRT2 Mutation in a Sporadic Case of Paroxysmal Kinesigenic Dyskinesia

Toshiyuki Yamamoto, Toshiaki Shimizu, S. Shimada, 2019, Juntendo Medical Journal.

Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

A. Okumura, Toshiyuki Yamamoto, Toshiaki Shimizu, 2016, Brain and Development.

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes

T. Hara, M. Sanefuji, Y. Sakai, 2014, Brain and Development.

PRRT2 mutation in Japanese children with benign infantile epilepsy

T. Okanishi, H. Enoki, A. Okumura, 2013, Brain and Development.

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

Yukichi Tanaka, Toshiyuki Yamamoto, K. Kurosawa, 2012, Congenital anomalies.

K. Kosaki, Y. Sakata, Makiko Maeda, 2021, American journal of medical genetics. Part A.

Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array‐CGH

Toshiyuki Yamamoto, K. Shimojima, 2009, American journal of medical genetics. Part A.

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

K. Higaki, E. Nanba, T. Takeshima, 1999, Human Genetics.

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

N. Okamoto, Toshiyuki Yamamoto, R. Kira, 2016, Human Genome Variation.

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2017, American journal of medical genetics. Part A.

Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)

M. Oshimura, M. Kadota, Toshiyuki Yamamoto, 2004, American journal of medical genetics. Part A.

Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy

H. Ikeda, Toshiyuki Yamamoto, K. Imai, 2016, Brain and Development.

Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis

Mitsuhiro Kato, J. Tohyama, Toshiyuki Yamamoto, 2020, Brain and Development.

ARHGEF9 disease

S. Scherer, C. Marshall, S. Walker, 2017, Neurology: Genetics.

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2017, Human Genome Variation.

Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders

Toshiyuki Yamamoto, 2021, Cells.

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Toshiyuki Yamamoto, H. Shintaku, T. Hamazaki, 2017, Intractable & rare diseases research.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome

Takeshi Yoshida, Toshiyuki Yamamoto, S. Kure, 2018, American journal of medical genetics. Part A.

CDKL5 alterations lead to early epileptic encephalopathy in both genders

H. Ikeda, T. Okanishi, H. Oguni, 2011, Epilepsia.

Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome

T. Okanishi, Toshiyuki Yamamoto, K. Shimojima, 2011, American journal of medical genetics. Part A.

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.

Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain

Y. Ando, Toshiyuki Yamamoto, M. Ueda, 2015, Journal of the Neurological Sciences.

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

M. Ōsawa, A. Okumura, H. Kidokoro, 2013, Gene.

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence

H. Osaka, Toshiyuki Yamamoto, K. Shimojima, 2017, Human Genome Variation.

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.

Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen‐like phenotype, severe intellectual disability, and autism

N. Okamoto, M. Ōsawa, Toshiyuki Yamamoto, 2013, American journal of medical genetics. Part A.

Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Toshiyuki Yamamoto, T. Fujita, S. Hirose, 2020, Congenital anomalies.

Congenital neuroblastoma in a patient with partial trisomy of 2p.

N. Matsumoto, Yukichi Tanaka, Toshiyuki Yamamoto, 2006, Journal of pediatric hematology/oncology.

A de novo 1.9‐Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

Kayoko Saito, Toshiyuki Yamamoto, K. Shimojima, 2009, American journal of medical genetics. Part A.

Co‐occurrence of Prader–Willi and Sotos syndromes

Yasuhiro Suzuki, N. Okamoto, Keiko Matsuda, 2010, American journal of medical genetics. Part A.

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

S. Miyano, S. Ogawa, Y. Okuno, 2020, Human genome variation.

An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment

Toshiyuki Yamamoto, K. Shimojima, K. Shirai, 2017, American journal of medical genetics. Part A.

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

L. Samuelsson, B. Isidor, Toshiyuki Yamamoto, 2014, Journal of Human Genetics.

Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males

E. Nanba, Y. Maegaki, T. Koeda, 1995, Brain and Development.

New GAA mutations in Japanese patients with GSDII (Pompe disease).

S. Tsujino, E. Nanba, F. Martiniuk, 2003, Pediatric Neurology.

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay

N. Okamoto, Toshiyuki Yamamoto, G. Nishimura, 2011, American journal of medical genetics. Part A.

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Y. Sakata, Toshiyuki Yamamoto, Y. Asano, 2021, Human genome variation.

Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome

R. Kosaki, K. Kosaki, C. Torii, 2010, American journal of medical genetics. Part A.

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU

J. Takanashi, H. Oguni, Toshiyuki Yamamoto, 2018, Brain and Development.

Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements

A. Toyoda, N. Okamoto, Yohei Minakuchi, 2022, American journal of medical genetics. Part A.

Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism

Toshiyuki Yamamoto, T. Ando, K. Shimojima, 2013, Congenital anomalies.

Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Y. Kinosada, T. Fukao, Toshiyuki Yamamoto, 2015, International journal of molecular medicine.

Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia

K. Takeshita, Toshiyuki Yamamoto, K. Shimojima, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications

Toshiyuki Yamamoto, K. Shimojima, S. Shimada, 2013 .

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2011, Journal of Human Genetics.

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

R. Takahashi, N. Matsumoto, Y. Tsurusaki, 2016, Journal of Human Genetics.

Mast Cells in the Sγnovium of Patients with Psoriasis

Toshiyuki Yamamoto, 2016 .

Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation

M. Osawa, Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, 2020, Congenital anomalies.

A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2018, Congenital anomalies.

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome

I. Hisatome, Keiko Nagata, E. Nanba, 2000, Journal of Human Genetics.

Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period

Toshiyuki Yamamoto, M. Moroto, T. Okuda, 2022, The journal of obstetrics and gynaecology research.

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern

N. Okamoto, Toshiyuki Yamamoto, S. Nagata, 2020, Human mutation.

A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome

Katsuhiro Kobayashi, H. Yoshinaga, T. Yasuhara, 2016, Clinical genetics.

Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity

Toshiyuki Yamamoto, H. Kanno, H. Ogura, 2022, Clinical case reports.

Novel LAMA2 variants identified in a patient with white matter abnormalities

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto-Shimojima, 2020, Human Genome Variation.

Tatton–Brown–Rahman syndrome due to 2p23 microdeletion

Y. Toribe, N. Okamoto, Toshiyuki Yamamoto, 2016, American journal of medical genetics. Part A.

A novel MED12 mutation associated with non-specific X-linked intellectual disability

Toshiyuki Yamamoto, K. Shimojima, 2015, Human Genome Variation.

An autopsy case of microencephaly, bizarre putaminal lesion, and cerebellar atrophy with heart and liver diseases

Toshiyuki Yamamoto, M. Hayashi, Sachiko Kanda, 2014, Brain and Development.

Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome

Masao Kobayashi, Toshiyuki Yamamoto, N. Ishikawa, 2016, Brain and Development.

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome

N. Matsumoto, Toshiyuki Yamamoto, K. Kurosawa, 2006, American journal of medical genetics. Part A.

A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities

Toshiyuki Yamamoto, H. Shintaku, T. Seto, 2017, Human Genome Variation.

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

Leo Gotoh, H. Osaka, Toshiyuki Yamamoto, 2014, Journal of Neurology.

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley–Bixler syndrome

K. Tachibana, Toshiyuki Yamamoto, A. Oka, 2004, American journal of medical genetics. Part A.

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Toshiyuki Yamamoto, Yusaku Miyamoto, Tomoe Yanagishita, 2021, Human Genome Variation.

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Toshiyuki Yamamoto, Y. Asano, Yusaku Miyamoto, 2021, Human genome variation.

A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma

A. Barkovich, J. Takanashi, A. Okumura, 2012, Brain and Development.

Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3

A. Okumura, Toshiyuki Yamamoto, Toshiaki Shimizu, 2011, Epilepsia.

Origin and mechanisms of formation of fetus‐in‐fetu: Two cases with genotype and methylation analyses

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

Application of induced pluripotent stem cells in epilepsy

Mami Shibata, N. Higurashi, Toshiyuki Yamamoto, 2020, Molecular and Cellular Neuroscience.

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification

S. Robertson, I. Nonaka, I. Nishino, 2009, Neuromuscular Disorders.

A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity

H. Oguni, M. Ōsawa, Toshiyuki Yamamoto, 2013, American journal of medical genetics. Part A.

Epilepsies in Children with 2q24.3 Deletion/Duplication

H. Kurahashi, A. Okumura, Toshiyuki Yamamoto, 2015, Journal of Pediatric Epilepsy.

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

K. Yoshiura, R. Kosaki, H. Ohashi, 2016, American journal of medical genetics. Part A.

A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome

Keiko Nagata, E. Nanba, H. Chikumi, 2000, Journal of Human Genetics.

Association of the Trp64Arg Mutation of the β3-Adrenergic Receptor with Diabetes Mellitus, Impaired Glucose Tolerance and Lifestyle in Japanese Workers

E. Nanba, Toshiyuki Yamamoto, Y. Osaki, 2001 .

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.

C. Ruivenkamp, Kayoko Saito, M. Breuning, 2014, European journal of medical genetics.

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

Toshiyuki Yamamoto, K. Imai, K. Shimojima, 2010, American journal of medical genetics. Part A.

Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas

Masakazu Yamamoto, T. Furukawa, N. Shibata, 2015, Scientific Reports.

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

H. Oguni, Toshiyuki Yamamoto, S. Nagata, 2017, Intractable & rare diseases research.

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Toshiyuki Yamamoto, T. Kawahara, T. Inazu, 2015, Case reports in genetics.

AN ovelPHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Toshiyuki Yamamoto, T. Inazu, T. Kawahara, 2015 .

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

Nobuhiko Okamoto, H. Arai, N. Okamoto, 2012, European journal of medical genetics.

Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto-Shimojima, 2020, Congenital anomalies.

Characteristics of rare and private deletions identified in phenotypically normal individuals

Toshiyuki Yamamoto, K. Shimojima, 2017, Human Genome Variation.

Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2011, American journal of medical genetics. Part A.

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

Kayoko Saito, Toshiyuki Yamamoto, M. Matsuo, 2013, Molecular Cytogenetics.

Pelizaeus–Merzbacher disease as a chromosomal disorder

Toshiyuki Yamamoto, K. Shimojima, 2013, Congenital anomalies.

Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement

J. Azuma, K. Ozono, M. Ōsawa, 2013, American journal of medical genetics. Part A.

Proximal interstitial 1p36 deletion syndrome: The most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)

Toshiyuki Yamamoto, K. Kurosawa, K. Shimojima, 2009, Brain and Development.

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

Toshiyuki Yamamoto, K. Akahoshi, 2018, Neuropsychiatric disease and treatment.

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.

H. Kurahashi, Toshiyuki Yamamoto, M. Irahara, 2019, Human reproduction.

GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome

N. Okamoto, Toshiyuki Yamamoto, K. Kurosawa, 2007, American journal of medical genetics. Part A.

Preimplantation Genetic Testing for Aneuploidy for Recurrent Pregnancy Loss and Recurrent Implantation Failure in Minimal Ovarian Stimulation Cycle for Women Aged 35–42 Years: Live Birth Rate, Developmental Follow-up of Children, and Embryo Ranking

Toshiyuki Yamamoto, T. Takeshita, K. Ezoe, 2022, Reproductive Sciences.

Application of array-based comparative genome hybridization in children with developmental delay or mental retardation.

Toshiyuki Yamamoto, Keiko Shimojima, Toshiyuki Yamamoto, 2008, Pediatrics and neonatology.

A de novo intra‐chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein–Taybi region but with no bipolar disorder

Toshiyuki Yamamoto, Kyoko Tanaka, K. Shimojima, 2009, American journal of medical genetics. Part A.

Epilepsy in Numerical Chromosomal Abnormalities

Toshiyuki Yamamoto, 2015, Journal of Pediatric Epilepsy.

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

Y. Maegaki, S. Fujii, M. Ōsawa, 2010, Journal of Human Genetics.

Advantages of ddPCR in detection of PLP1 duplications.

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto-Shimojima, 2019, Intractable & rare diseases research.

CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.

H. Inoue, A. Okumura, Toshiyuki Yamamoto, 2015, Genomics.

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome

N. Okamoto, Eriko Nishi, Toshiyuki Yamamoto, 2020, Human Genetics.

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

C. Le Caignec, B. Isidor, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome

N. Okamoto, Eriko Nishi, S. Mizuno, 2016, Human Genome Variation.

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation

N. Matsumoto, N. Miyake, S. Miyatake, 2017, Human Genome Variation.

Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.

H. Kurahashi, Toshiyuki Yamamoto, M. Irahara, 2020, Human reproduction.

A patient with cerebral palsy whose mother had a traffic accident during pregnancy: a diffuse axonal injury?

T. Koeda, K. Takeshita, Toshiyuki Yamamoto, 1999, Brain & development (Tokyo. 1979).

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Toshiyuki Yamamoto, K. Imai, S. Mukaida, 2011, Journal of Human Genetics.

Focal meningoencephalitis localized in the left occipital lobe

Toshiyuki Yamamoto, K. Ohno, S. Ohta, 1994, Brain and Development.

MECP2 duplication syndrome in both genders

Y. Maegaki, N. Okamoto, M. Ōsawa, 2013, Brain and Development.

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.

Toshiyuki Yamamoto, K. Ohno, Y. Fujii, 2009, European journal of medical genetics.

16p11.2 Microdeletion/Microduplication Syndrome and Benign Infantile Epilepsy

Toshiyuki Yamamoto, R. Tsurusawa, A. Ogawa, 2015, Journal of Pediatric Epilepsy.

The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications

H. Kurahashi, S. Mizuno, Toshiyuki Yamamoto, 2020, Human Genetics.

Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto-Shimojima, 2020, Journal of Human Genetics.

Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients

N. Okamoto, M. Ōsawa, Toshiyuki Yamamoto, 2013, American journal of medical genetics. Part A.

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

M. Kubota, A. Oka, Kayoko Saito, 2010, Brain and Development.

Molecular Profiles of Breast Cancer in a Single Institution

Tomoki Uchiyama, Toshiyuki Yamamoto, Motoko Watanabe, 2020, AntiCancer Research.

Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale

K. Yokochi, T. Okanishi, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

Transgenic Expression of Dominant Negative Tuberin through a Strong Constitutive Promoter Results in a Tissue-specific Tuberous Sclerosis Phenotype in the Skin and Brain*

D. Brat, M. Csete, W. D. Martin, 2005, Journal of Biological Chemistry.

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

M. Kubota, K. Kosaki, Y. Maegaki, 2015, Brain and Development.

Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome

Y. Maegaki, M. Ōsawa, Toshiyuki Yamamoto, 2014, American journal of medical genetics. Part A.

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

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

POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

Toshiyuki Yamamoto, W. Arlt, M. Matsuo, 2006, American journal of medical genetics. Part A.

A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies

N. Matsumoto, Toshiyuki Yamamoto, K. Kurosawa, 2006, American journal of medical genetics. Part A.

Successful treatment of migrating partial seizures in Wolf–Hirschhorn syndrome with bromide

Y. Maegaki, Toshiyuki Yamamoto, T. Okazaki, 2016, Brain and Development.

109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf–Hirschhorn syndrome

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2013, American journal of medical genetics. Part A.

Couple's decision-making after birth of a child with an unbalanced chromosomal translocation

Toshiyuki Yamamoto, Tomoko Nishikawa, K. Kurosawa, 2008, Journal of Pediatric Neurology.

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism

N. Matsumoto, N. Miyake, Toshiyuki Yamamoto, 2018, Human Genome Variation.

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Y. Fukushima, T. Morio, H. Kurahashi, 2022, Journal of Human Genetics.

Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma.

T. Fukao, Toshiyuki Yamamoto, H. Iwata, 2020, Journal of pediatric hematology/oncology.

Epilepsy in 1p36 Deletion Syndrome Is Not Associated with Deletion Size

H. Ikeda, Toshiyuki Yamamoto, K. Shimojima, 2015, Journal of Pediatric Epilepsy.

Growth patterns of patients with 1p36 deletion syndrome

Toshiyuki Yamamoto, T. Ando, K. Shimojima, 2014, Congenital anomalies.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Y. Fukushima, Y. Kuroki, N. Okamoto, 2005, Brain and Development.

Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6

Toshiyuki Yamamoto, H. Shintaku, T. Hamazaki, 2015, Molecular Cytogenetics.

Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6

Toshiyuki Yamamoto, H. Shintaku, T. Hamazaki, 2015, Molecular Cytogenetics.

Natural histories of patients with Wolf‐Hirschhorn syndrome derived from variable chromosomal abnormalities

K. Yokochi, N. Okamoto, Toshiyuki Yamamoto, 2018, Congenital anomalies.

A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures.

Takao Takahashi, Toshiyuki Yamamoto, Yukitoshi Takahashi, 2017, No to hattatsu = Brain and development.

Growth profiles of 34 patients with Wolf-Hirschhorn syndrome

Toshiyuki Yamamoto, K. Shimojima, 2012, Journal of Pediatric Genetics.

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Y. Okuno, T. Kaname, Toshiyuki Yamamoto, 2019, Journal of Human Genetics.

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

T. Furukawa, Y. Maegaki, Toshiyuki Yamamoto, 2014, BMC Research Notes.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome

N. Okamoto, Toshiyuki Yamamoto, G. Nishimura, 2005, American journal of medical genetics. Part A.

Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1

N. Matsumoto, Toshiyuki Yamamoto, K. Kurosawa, 2008, American journal of medical genetics. Part A.

A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.

S. Saitoh, Toshiyuki Yamamoto, H. Kanno, 2020, Journal of pediatric hematology/oncology.

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

N. Okamoto, A. Okumura, M. Momoi, 2012, Journal of Human Genetics.

A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination

M. Yamasaki, Y. Kanemura, K. Takeshita, 2006 .

Vertebral fusion in a patient with supernumerary‐der(22)t(11;22) syndrome

Y. Maegaki, Toshiyuki Yamamoto, Y. Kawano, 2009, American journal of medical genetics. Part A.

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Toshiyuki Yamamoto, Y. Aihara, Kentaro Chiba, 2022, Human Genome Variation.

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

N. Okamoto, T. Kaname, K. Yanagi, 2021, Human genome variation.

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy

H. Ikeda, Toshiyuki Yamamoto, K. Imai, 2015, Human Genome Variation.

Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1

Toshiyuki Yamamoto, K. Shimojima, S. Shimada, 2013, Congenital anomalies.

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

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

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia

K. Yokochi, H. Kurahashi, A. Okumura, 2012, Brain and Development.

Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract.

M. Ohmuraya, T. Furukawa, M. Hattori, 2019, Journal of the American Society of Nephrology.

Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan

T. Sasaki, Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, 2019, Brain and Development.

3p interstitial deletion including PRICKLE2 in identical twins with autistic features.

M. Miyajima, S. Kondo, A. Okumura, 2014, Pediatric neurology.

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

T. Furukawa, Toshiyuki Yamamoto, S. Akaboshi, 2014, Brain and Development.

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome

N. Okamoto, Toshiyuki Yamamoto, Y. Mogami, 2019, Congenital anomalies.

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

S. Nabatame, Toshiyuki Yamamoto, M. Sasaki, 2012, Seizure.

A Video Report of Brain–Lung–Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene

K. Yokochi, H. Hosoi, M. Morimoto, 2016, Child neurology open.

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2016, American journal of medical genetics. Part A.

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

N. Matsumoto, Y. Tsurusaki, M. Morimoto, 2015, Brain and Development.

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

Toshiyuki Yamamoto, Y. Watanabe, K. Shimojima, 2012, American journal of medical genetics. Part A.

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

Toshiyuki Yamamoto, S. Tsukano, Yuki Abe, 2020, Human Genome Variation.

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.

M. Kubota, Toshiyuki Yamamoto, S. Ninomiya, 2015, European Journal of Medical Genetics.

The magnetic resonance imaging spectrum of Pelizaeus–Merzbacher disease: A multicenter study of 19 patients

K. Yokochi, H. Matsuda, J. Takanashi, 2016, 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 novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease

Toshiyuki Yamamoto, N. Iwasaki, K. Shimojima, 2013, Journal of the Neurological Sciences.

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

Toshiyuki Yamamoto, H. Tsukamoto, A. Oka, 2014, Human Genome Variation.

Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years

K. Sawada, Toshiyuki Yamamoto, Tsutomu Takahashi, 2012, American journal of medical genetics. Part A.

A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features

J. Tohyama, Toshiyuki Yamamoto, K. Shimojima, 2016, Congenital anomalies.

Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.

A. Okumura, Toshiyuki Yamamoto, K. Hisata, 2010, European journal of medical genetics.

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures

H. Oguni, Toshiyuki Yamamoto, S. Nagata, 2014, Human Genome Variation.

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

N. Okamoto, T. Kaname, K. Yanagi, 2021, Human Genome Variation.

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease

Toshiyuki Yamamoto, K. Shimojima, Yong-ping Lu, 2017, Human Genome Variation.

De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

H. Mori, A. Okumura, Toshiyuki Yamamoto, 2012, American journal of medical genetics. Part A.

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome

Toshiyuki Yamamoto, R. Kira, T. Seto, 2017, Journal of Pediatric Genetics.

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

E. Nanba, Y. Eto, Yuji Takahashi, 2018, BMC Neurology.

Jimpymsd mouse mutation and connatal Pelizaeus‐Merzbacher disease

E. Nanba, K. Takeshita, Haidi zhang, 1998 .

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

H. Kurahashi, T. Awaya, J. Tohyama, 2019, Seizure.

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.

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

S. Ogawa, Y. Okuno, Kenichi Yoshida, 2020, Human Genome Variation.

A case of bulbar type cerebral palsy: Representative symptoms of dorsal brainstem syndrome

Toshiyuki Yamamoto, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

Pontine hypoplasia in a child with sensorineural deafness

K. Takeshita, Toshiyuki Yamamoto, K. Ohtani, 1997, Brain and Development.

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

N. Okamoto, Toshiyuki Yamamoto, H. Goel, 2017, European journal of medical genetics.

Epilepsy and Other Symptoms Associated with Chromosome 9q34.11 Microdeletion

T. Akiyama, Toshiyuki Yamamoto, 2015, Journal of Pediatric Epilepsy.

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan

T. Okuyama, Toshiyuki Yamamoto, R. Mashima, 2017, Brain and Development.

Xq28 Duplications and Epilepsy: Influence of the Combinatory Duplication of MECP2 and GDI1

N. Okamoto, H. Oguni, Toshiyuki Yamamoto, 2015, Journal of Pediatric Epilepsy.

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

S. Petrou, T. Furukawa, T. Okanishi, 2015, PloS one.

A case of atypical benign partial epilepsy with action myoclonus

K. Haginoya, Toshiyuki Yamamoto, K. Wakusawa, 2013, Seizure.

Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

N. Okamoto, Toshiyuki Yamamoto, K. Shimojima, 2017, Congenital anomalies.

A Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1.

Christopher M. Vockley, A. Regev, A. Kundaje, 2022, Blood.

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome

Toshiyuki Yamamoto, S. Nagata, K. Hirasawa, 2018, American journal of medical genetics. Part A.

A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

N. Okamoto, Toshiyuki Yamamoto, M. Nishikawa, 2016, Human Genome Variation.

SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome

Toshiyuki Yamamoto, Ayako Umemura, M. Uematsu, 2014, Human Genome Variation.

Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.

K. Haginoya, Toshiyuki Yamamoto, K. Wakusawa, 2014, Pediatric neurology.

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

Y. Sakai, Toshiyuki Yamamoto, R. Kira, 2015, Brain and Development.

MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene

H. Osaka, Toshiyuki Yamamoto, T. Yamagata, 2021, Human genome variation.

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

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

Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients

Katsumi Higaki, Miyako Taniguchi, K. Higaki, 2004, Brain & development (Tokyo. 1979).

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.

Yumi Asakura, K. Fujieda, Toshiyuki Yamamoto, 2007, Endocrine journal.

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

Toshiyuki Yamamoto, S. Takatsuki, T. Saji, 2010, American journal of medical genetics. Part A.

Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5

Kayoko Saito, N. Iwasaki, M. Ogata, 2016, Human Genome Variation.

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome

T. Inubushi, Toshiyuki Yamamoto, K. Fujioka, 2023, American journal of medical genetics. Part A.

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features

N. Okamoto, Toshiyuki Yamamoto, K. Nozu, 2017, Human Genome Variation.

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4

N. Okamoto, Toshiyuki Yamamoto, M. Togawa, 2014, American journal of medical genetics. Part A.

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA

N. Okamoto, Toshiyuki Yamamoto, H. Nagase, 2018, Human Genome Variation.

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

T. Shimono, T. Okuyama, Toshiyuki Yamamoto, 2019, Human Genome Variation.

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features

T. Shiihara, N. Okamoto, Toshiyuki Yamamoto, 2022, American journal of medical genetics. Part A.

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Toshiyuki Yamamoto, Y. Aihara, Kentaro Chiba, 2022, Human Genome Variation.

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.

Katsuhiro Kobayashi, T. Akiyama, M. Kubota, 2020, Pediatric neurology.

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

T. Akiyama, Toshiyuki Yamamoto, Yukitoshi Takahashi, 2019 .

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

A. De Paepe, J. Andrieux, Toshiyuki Yamamoto, 2016, European journal of medical genetics.

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism

N. Matsumoto, N. Miyake, Toshiyuki Yamamoto, 2018, Human Genome Variation.

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

N. Matsumoto, Kayoko Saito, N. Miyake, 2017, Brain and Development.

A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy

H. Osaka, Y. Kuroda, Toshiyuki Yamamoto, 2023, American journal of medical genetics. Part A.

A high incidence of scoliosis in children with tension‐type headache

Toshiyuki Yamamoto, Sakae Narai, 2004, Pediatrics international : official journal of the Japan Pediatric Society.

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Y. Okuno, T. Kaname, Toshiyuki Yamamoto, 2019, Journal of Human Genetics.

Clinical spectrum of individuals with de novo EBF3 variants or deletions

K. Kosaki, N. Okamoto, T. Kaname, 2021, American journal of medical genetics. Part A.

A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data

Katsuhiro Kobayashi, H. Yoshinaga, Toshiyuki Yamamoto, 2017, Brain and Development.

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

N. Okamoto, Toshiyuki Yamamoto, K. Iijima, 2016, Human Genome Variation.

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

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

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34

T. Shiihara, M. Mizuguchi, Toshiyuki Yamamoto, 2015, Brain and Development.

Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.

Kenzo Sato, E. Nanba, K. Takeshita, 1998, American journal of medical genetics.

Relationship of Matrix Metalloproteinases 2 and 9 in the Wall of Abdominal Aortic Aneurysms

E. Nanba, Toshiyuki Yamamoto, S. Ohgi, 2003 .

Niemann-Pick C disease : insight from studies on mutated NPC1 gene and protein

C. Tomasetto, Toshiyuki Yamamoto, G. Millat, 1999 .

SSCP analysis by RT‐PCR for the prenatal diagnosis of Niemann‐Pick disease type C

E. Nanba, Toshiyuki Yamamoto, K. Inui, 2001, Prenatal diagnosis.

A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype

A. Okumura, Toshiyuki Yamamoto, K. Shimojima, 2015, Data in brief.

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4

N. Okamoto, Toshiyuki Yamamoto, M. Togawa, 2014, American Journal of Medical Genetics. Part A.

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

T. Furukawa, Y. Maegaki, Toshiyuki Yamamoto, 2014, BMC Research Notes.

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study

H. Oguni, Toshiyuki Yamamoto, K. Hirasawa, 2010, Epilepsia.

Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB

T. Nagayasu, K. Ariyoshi, Toshiyuki Yamamoto, 2010, Journal of Medical Genetics.

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

S. Saitoh, J. Tohyama, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.

Mami Shibata, H. Okano, M. Morimoto, 2021, Human molecular genetics.

Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits

N. Shimizu, R. Matsuoka, N. Matsumoto, 2008, American journal of medical genetics. Part A.

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

N. Matsumoto, Y. Tsurusaki, Toshiyuki Yamamoto, 2016, Brain and Development.

Three Japanese patients with 3p13 microdeletions involving FOXP1

N. Okamoto, Toshiyuki Yamamoto, T. Okazaki, 2019, Brain and Development.

A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity

H. Oguni, M. Ōsawa, Toshiyuki Yamamoto, 2013, American journal of medical genetics. Part A.

Long‐term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat‐D to E

Kayoko Saito, Toshiyuki Yamamoto, M. Matsuo, 2018, Congenital anomalies.

CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly

A. Okumura, Toshiyuki Yamamoto, T. Kondo, 2015 .

Epilepsy phenotypes in siblings with Norrie disease

Y. Kitamura, A. Okumura, Toshiyuki Yamamoto, 2015, Brain and Development.