Y. Aoki

A. Hata, Y. Matsubara, Y. Aoki, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor‐mutant lung cancer

K. Nakayama, T. Okazaki, Y. Matsubara, 2017, Cancer science.

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

M. Hiratsuka, S. Kuriyama, Y. Yamaguchi-Kabata, 2022, JMA journal.

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

J. Inazawa, K. Ihara, Kyoko Watanabe, 2011, Journal of Human Genetics.

The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach

Alcino J. Silva, B. Korf, C. Lázaro, 2015, American journal of medical genetics. Part A.

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

H. Ohashi, Y. Matsubara, N. Okamoto, 2018, Human Genetics.

Metachondromatosis without Enchondromas: A Case Report and Review of the Literature

T. Yamashita, T. Niihori, Y. Aoki, 2016, JBJS case connector.

Linkage and association of childhood asthma with the chromosome 12 genes

T. Shirakawa, Y. Matsubara, M. Tamari, 2004, Journal of Human Genetics.

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

E. Zackai, P. Lapunzina, K. Gripp, 2006, American journal of medical genetics. Part A.

Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel—loss-of-function cellular model of SCA6

J. Black, Y. Mori, T. Inuzuka, 2004, Neurobiology of Disease.

Rapid diagnosis of glycine encephalopathy by 13C‐glycine breath test

S. Korman, Y. Matsubara, Y. Aoki, 2006, Annals of neurology.

Identification of GFAP gene mutation in hereditary adult‐onset Alexander's disease

H. Shimazaki, Y. Matsubara, Y. Aoki, 2002, Annals of neurology.

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease

Y. Matsubara, K. Haginoya, Y. Aoki, 2001, Neuroscience Letters.

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

K. Haginoya, T. Niihori, Y. Aoki, 2019, Journal of Human Genetics.

Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia.

J. Maciejewski, Y. Matsubara, S. Kojima, 2012, Leukemia research.

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

N. Shimizu, E. Holme, M. Hiratsuka, 2000, European Journal of Pediatrics.

Relationship between Kinetic Properties of Mutant Enzyme and Biochemical and Clinical Responsiveness to Biotin in Holocarboxylase Synthetase Deficiency

T. Suormala, E. R. Baumgartner, M. Hiratsuka, 1999, Pediatric Research.

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

T. Suormala, E. R. Baumgartner, Xia Li, 1999, Human Genetics.

Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Y. Matsubara, Y. Aoki, S. Kure, 2004, Molecular genetics and metabolism.

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

N. Greene, A. Copp, C. Relton, 2011, Human molecular genetics.

Double‐chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome

K. Sakamoto, Y. Arima, S. Takashio, 2020, ESC heart failure.

Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation

K. Nakayama, R. Funayama, K. Haginoya, 2018, Brain and Development.

A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy

K. Nakayama, I. Nishino, R. Funayama, 2021, Journal of Human Genetics.

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.

Takao Takahashi, Y. Matsubara, Katsuya Yamamoto, 2007, Molecular genetics and metabolism.

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

T. Niihori, Y. Aoki, N. Suzuki, 2017, Neurobiology of Aging.

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

W. Shoji, K. Nakayama, N. Matsumoto, 2019, Annals of neurology.

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

T. Degrauw, J. Christodoulou, Y. Matsubara, 2006, Human mutation.

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

T. Maeda, Y. Matsubara, Y. Aoki, 2002, Annals of neurology.

Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.

K. Fujieda, T. Miike, I. Matsuda, 1988, American journal of medical genetics.

Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

Y. Matsubara, Y. Aoki, M. Sasaki, 2011, Brain and Development.

Direct Correlation Between Ischemic Injury and Extracellular Glycine Concentration in Mice With Genetically Altered Activities of the Glycine Cleavage Multienzyme System

T. Sugawara, M. Oda, H. Kinouchi, 2007, Stroke.

Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants

Y. Yamaguchi-Kabata, A. Masamune, M. Shimada, 2022, Breast Cancer.

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.

Xia Li, H. Kondo, Y. Suzuki, 1996, Clinica chimica acta; international journal of clinical chemistry.

Fatal Propionic Acidemia in Mice Lacking Propionyl-CoA Carboxylase and Its Rescue by Postnatal, Liver-specific Supplementation via a Transgene*

Y. Aoki, Makio Kobayashi, S. Yamaguchi, 2001, The Journal of Biological Chemistry.

Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations

H. Ohnishi, Y. Aoki, S. Yuzuriha, 2021, Journal of Human Genetics.

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndrome

R. Kosaki, Yoshimi Watanabe, Y. Aoki, 2022, American journal of medical genetics. Part A.

Production of Hydroxlated Flavonoids with Cytochrome P450 BM3 Variant F87V and Their Antioxidative Activities

N. Misawa, Y. Aoki, K. Shindo, 2013, Bioscience, biotechnology, and biochemistry.

[Ehlers-Danlos syndrome with a frequent intestinal perforation].

Y. Aoki, T. Yamagishi, T. Kosho, 2009, Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine.

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor

K. Nakayama, R. Funayama, T. Niihori, 2022, Journal of Human Genetics.

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

K. Nakayama, K. Ozono, Y. Matsubara, 2015, American journal of human genetics.

Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing

Y. Kondo, T. Kogure, T. Shimosegawa, 2014, Hepatology research : the official journal of the Japan Society of Hepatology.

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

K. Nakayama, R. Funayama, K. Haginoya, 2015, Human Genetics.

Front & Back Matter

L. Shaffer, C. Steinlein, G. Mortier, 2020, Molecular Syndromology.

Front & Back Matter

L. Shaffer, C. Steinlein, G. Mortier, 2020, Molecular Syndromology.

Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm.

Y. Aoki, Masaaki Ito, K. Dohi, 2019, Circulation. Cardiovascular imaging.

Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report

Y. Matsubara, Y. Aoki, Takashi Shimizu, 2003, European Journal of Pediatrics.

Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5

L. Shaffer, Y. Matsubara, Y. Aoki, 2011, American journal of medical genetics. Part A.

Improved growth velocity of a patient with Noonan‐like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low‐dose growth hormone therapy

T. Morio, H. Ohashi, Y. Aoki, 2015, American journal of medical genetics. Part A.

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia

Y. Matsubara, Y. Aoki, S. Kure, 2006, Journal of Medical Genetics.

Application of targeted next generation sequencing for the comprehensive analysis of pancreatitis susceptibility genes

A. Masamune, T. Shimosegawa, K. Kume, 2016 .

Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities

T. Tominaga, Y. Sonoda, S. Aiba, 2016, American journal of medical genetics. Part A.

Mutations in the holocarboxylase synthetase gene HLCS

Y. Matsubara, Y. Aoki, S. Kure, 2005, Human mutation.

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

N. Niikawa, A. Iwamatsu, Y. Matsubara, 1994, Nature Genetics.

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

K. Kawasaki, S. Minoshima, N. Shimizu, 2001, Human Genetics.

Identification of holocarboxylase synthetase (HCS) proteins in human placenta.

M. Hiratsuka, Y. Suzuki, K. Narisawa, 1998, Biochimica et biophysica acta.

Purification and properties of bovine liver holocarboxylase synthetase.

Y. Suzuki, K. Narisawa, Y. Aoki, 1994, Archives of biochemistry and biophysics.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

T. Suormala, E. R. Baumgartner, U. Stephani, 2003, Molecular genetics and metabolism.

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations

M. Hiratsuka, K. Gibson, Y. Matsubara, 2000, Journal of Human Genetics.

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

Kazutoshi Takahashi, Xia Li, R. Sakuta, 1995, Biochimica et biophysica acta.

[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients].

Y. Suzuki, K. Narisawa, Y. Aoki, 1996, Nihon rinsho. Japanese journal of clinical medicine.

Characterization of Mutant Holocarboxylase Synthetase (HCS): AKm for Biotin Was Not Elevated in a Patient with HCS Deficiency

K. Narisawa, Y. Aoki, Yoichi Suzuki, 1997, Pediatric Research.

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

N. Shimizu, M. Hiratsuka, J. Kudoh, 1998, Journal of Inherited Metabolic Disease.

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome

Yukichi Tanaka, N. Okamoto, T. Niihori, 2015, American journal of medical genetics. Part A.

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yukichi Tanaka, M. Filocamo, H. Ohashi, 2005, Nature Genetics.

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

T. Nakazawa, K. Nakayama, S. Aiba, 2020, PLoS genetics.

Genomic analysis identifies masqueraders of full‐term cerebral palsy

K. Nakayama, R. Funayama, K. Haginoya, 2018, Annals of clinical and translational neurology.

A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease

Michio Ozeki, T. Miyazaki, T. Niihori, 2020, Journal of Human Genetics.

International Meeting on Genetic Syndromes of the Ras / MapK Pathway “ Finding Our Way Back to the Bedside ”

Y. Matsubara, S. Kojima, A. Ohtake, 2011 .

Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).

Y. Matsubara, Y. Aoki, A. Ivanova, 2014, JIMD reports.

Biallelic GALM pathogenic variants cause a novel type of galactosemia

O. Ohara, K. Nakayama, R. Funayama, 2018, Genetics in Medicine.

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines

Y. Fukushima, Y. Matsubara, T. Niihori, 2015, American journal of medical genetics. Part A.

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

B. Ezquieta, Y. Aoki, D. Grinberg, 2015 .

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

B. Ezquieta, Y. Aoki, D. Grinberg, 2015 .

T. Maeda, Y. Matsubara, Y. Aoki, 2003 .

Dinucleotide repeat polymorphism in 65k-glutamate decarboxylase gene

Y. Matsubara, K. Narisawa, Y. Aoki, 1997, Japanese Journal of Human Genetics.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

Y. Matsubara, T. Niihori, Y. Aoki, 2008, Human mutation.

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

T. Niihori, Y. Aoki, Toshiaki Takahashi, 2020, Human mutation.

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

K. Nakayama, K. Abe, Y. Matsubara, 2013, Journal of Human Genetics.

Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.

M. Nagasaki, A. Masamune, T. Shimosegawa, 2016, Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.].

Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis

A. Masamune, T. Shimosegawa, K. Kume, 2015, Digestive Diseases and Sciences.

Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion

S. Kondo, J. Murray, Y. Matsubara, 2003, Journal of Human Genetics.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yoichi Matsubara, Alain Verloes, Alice Goldenberg, 2007, Journal of Medical Genetics.

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

M. Dattani, I. Robinson, J. Blackburn, 2021, Nature Communications.

BRAF mutations disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mouse and humans 1

M. Dattani, I. Robinson, J. Blackburn, 2021 .

A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder

T. Matsuishi, Y. Matsubara, T. Niihori, 2011, Brain and Development.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

S. Colan, K. Gripp, A. Lin, 2011, American journal of medical genetics. Part A.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Koichi Tabayashi, Kenji Kurosawa, Yoichi Matsubara, 2008, Journal of Human Genetics.

A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex

A. Sugawara, J. Yasuda, H. Sasano, 2022, Molecular genetics & genomic medicine.

Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death

K. Koike, Y. Nakazawa, T. Niihori, 2018, Clinical case reports.

A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio‐facio‐cutaneous syndrome and a germline BRAF mutation

T. Maeda, Y. Matsubara, Y. Aoki, 2013, American journal of medical genetics. Part A.

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

K. Haginoya, T. Niihori, Y. Aoki, 2019, Journal of Human Genetics.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2006, Nature Genetics.

Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

K. Nakayama, R. Funayama, T. Niihori, 2022, Journal of Medical Genetics.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

S. Mane, D. Lowy, K. Nakayama, 2018, Nature Communications.

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

Y. Fukushima, R. Kosaki, Y. Aoki, 2014, American journal of medical genetics. Part A.

Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility

C. Ishioka, T. Furukawa, M. Shimada, 2023, Journal of Human Genetics.

Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study

T. Iwaya, H. Shibata, C. Ishioka, 2022, Cancer medicine.

GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

K. Nakayama, H. Konno, Y. Matsubara, 2014, Neuromuscular Disorders.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

J. Kira, Y. Matsubara, F. Taroni, 1998, Human mutation.

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy

M. Morita, Y. Aoki, M. Sawada, 2021, Case Reports in Neurology.

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Kazutoshi Takahashi, M. Ogasawara, Y. Matsubara, 2000, American journal of medical genetics.

Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis

Y. Matsubara, T. Niihori, Y. Aoki, 2017, EBioMedicine.

The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

J. Yasuda, S. Kuriyama, Y. Yamaguchi-Kabata, 2021, Journal of Human Genetics.

The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

K. Kinoshita, J. Yasuda, S. Kuriyama, 2021, Journal of Human Genetics.

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing

G. Sobue, T. Niihori, Y. Aoki, 2015, Neurology: Genetics.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome

J. Takita, Y. Yuza, T. Niihori, 2022, International Journal of Hematology.

Novel causative gene for radioulnar synostosis with amegakaryocytic thrombocytopenia

T. Niihori, Y. Aoki, 2017 .

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.

Wenyi Wei, K. Nakayama, K. Nakayama, 2017, Molecular cell.

Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part I)

M. Yaspo, G. Lubec, S. H. Kim, 2003, Amino Acids.

Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis

K. Nakayama, K. Matsuoka, R. Funayama, 2019, Orphanet Journal of Rare Diseases.

Characterization of kaposiform lymphangiomatosis tissue‐derived cells

H. Tomita, H. Ohnishi, Y. Aoki, 2021, Pediatric blood & cancer.

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation

K. Nakayama, K. Haginoya, T. Niihori, 2017, Seizure.

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

K. Nakayama, R. Funayama, K. Haginoya, 2015, Human Genetics.

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation

Toshimitsu Kobayashi, Y. Matsubara, T. Niihori, 2006, Journal of Human Genetics.

non-ketotic hyperglycinaemia is a major cause of GLDC Genomic deletion within

Y. Aoki, S. Kure, F. Kamada, 2007 .

Structure and expression of the glycine cleavage system in rat central nervous system.

K. Hisanaga, J. Satoh, Kohji Sato, 2001, Brain research. Molecular brain research.

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia

Y. Matsubara, K. Narisawa, Y. Aoki, 2001, Journal of Human Genetics.

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

H. Ohashi, Y. Matsubara, N. Okamoto, 2018, Human Genetics.

Model Mice for Mild-Form Glycine Encephalopathy: Behavioral and Biochemical Characterizations and Efficacy of Antagonists for the Glycine Binding Site of N-Methyl D-Aspartate Receptor

T. Sugawara, M. Oda, Y. Matsubara, 2008, Pediatric Research.

Association of the hCLCA1 gene with childhood and adult asthma

M. Shimizu, T. Shirakawa, X. Mao, 2004, Genes and Immunity.

Search for novel pancreatitis-associated genes

A. Masamune, T. Shimosegawa, K. Kume, 2014 .

Isolated inclusion body myopathy caused by a multisystem proteinopathy–linked hnRNPA1 mutation

K. Nakayama, I. Nishino, R. Funayama, 2015, Neurology: Genetics.

Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population

Y. Matsubara, Y. Aoki, S. Kure, 2004, American journal of medical genetics. Part A.

Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

Y. Kohno, Y. Matsubara, K. Narisawa, 2004, Molecular genetics and metabolism.

Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation

T. Niihori, Y. Aoki, Toshiaki Takahashi, 2016, Clinical Neurology and Neurosurgery.

LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases

T. Niihori, Y. Aoki, S. Kanno, 2019, Cell Death & Differentiation.

A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family

T. Inuzuka, I. Hozumi, Z. Matsuyama, 2003, Journal of the Neurological Sciences.

Mutations in PIGL in a patient with Mabry syndrome

K. Nakayama, T. Kinoshita, Y. Matsubara, 2015, American journal of medical genetics. Part A.

Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey

K. Oda, M. Yoshioka, S. Kosugi, 2022, Journal of Human Genetics.

Phenotype–genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

N. Nomura, T. Kinoshita, D. Motooka, 2017, Human mutation.

Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

K. Nakayama, M. Iwasaki, R. Funayama, 2017, Brain and Development.

Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review

Y. Matsubara, Y. Aoki, Yu Abe, 2012, Seizure.

Adult Alexander's disease without leukoencephalopathy

M. Mascalchi, F. Salvi, Y. Matsubara, 2005, Annals of neurology.

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype

N. Okamoto, T. Niihori, Y. Aoki, 2017, American journal of medical genetics. Part A.

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Y. Matsubara, K. Hayasaka, Y. Aoki, 2004, Molecular genetics and metabolism.

Phenotypic heterogeneity in individuals with MECOM variants in 2 families

K. Nakayama, R. Funayama, T. Niihori, 2022, Blood advances.

Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct

K. Nakayama, G. Tamiya, S. Matsuzawa, 2022, Journal of Human Genetics.

Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis

S. Shimohama, Y. Aoki, I. Motoike, 2021, Neurology: Genetics.

Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

D. Groneberg, A. Masamune, T. Shimosegawa, 2015, American journal of physiology. Gastrointestinal and liver physiology.

Patient with a novel purine‐rich element binding protein A mutation

N. Okamoto, T. Niihori, Y. Aoki, 2017, Congenital anomalies.

Cardiac features of Noonan syndrome in Japanese patients

Y. Aoki, K. Kurosawa, Y. Ichikawa, 2022, Cardiology in the Young.

Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice

K. Igarashi, T. Niihori, Y. Aoki, 2023, Blood advances.

Clinical and Molecular Characteristics of Cardio-facio-cutaneous Syndrome in Hong Kong Chinese

Y. Aoki, S. Lam, H. Luk, 2013 .

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy

K. Haginoya, T. Niihori, Y. Aoki, 2014, Brain and Development.

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

K. Nakayama, T. Ogata, Y. Matsubara, 2014, PloS one.

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Y. Matsubara, Yasuyuki Suzuki, Y. Aoki, 2004, Molecular genetics and metabolism.

Possible SomaticMosaicismofNovelFUSVariant in Familial Amyotrophic Lateral Sclerosis

S. Shimohama, Y. Aoki, I. Motoike, 2022 .

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.

K. Nakayama, T. So, H. Tsukaguchi, 2019, International immunology.

Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population

Y. Matsubara, Y. Aoki, S. Kure, 2002, Journal of Human Genetics.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

H. Cavé, A. Verloes, H. Ohashi, 2008, Journal of Human Genetics.

Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A

K. Nakayama, N. Matsumoto, R. Funayama, 2023, Brain and Development.

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

I. Nishino, S. Matsuura, Kayoko Saito, 2023, American journal of human genetics.

A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.

S. Aiba, Y. Matsubara, Y. Aoki, 2013, Acta dermato-venereologica.

Variants in pancreatic carboxypeptidase genes CPA 2 and CPB 1 are not associated with 1 chronic pancreatitis 2 3

D. Groneberg, A. Masamune, T. Shimosegawa, 2015 .

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

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