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Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00178-2
- By:
- Publication type:
- Article
dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00175-5
- By:
- Publication type:
- Article
A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00172-8
- By:
- Publication type:
- Article
JCGA: the Japanese version of the Cancer Genome Atlas and its contribution to the interpretation of gene alterations detected in clinical cancer genome sequencing.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00170-w
- By:
- Publication type:
- Article
An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00173-7
- By:
- Publication type:
- Article
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00166-6
- By:
- Publication type:
- Article
Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00171-9
- By:
- Publication type:
- Article
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00176-4
- By:
- Publication type:
- Article
The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00163-9
- By:
- Publication type:
- Article
Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00168-4
- By:
- Publication type:
- Article
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00167-5
- By:
- Publication type:
- Article
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00165-7
- By:
- Publication type:
- Article
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00164-8
- By:
- Publication type:
- Article
Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00169-3
- By:
- Publication type:
- Article
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00160-y
- By:
- Publication type:
- Article
A novel LRP6 variant in a Japanese family with oligodontia.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00162-w
- By:
- Publication type:
- Article
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00161-x
- By:
- Publication type:
- Article
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00159-5
- By:
- Publication type:
- Article
The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00158-6
- By:
- Publication type:
- Article
Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00156-8
- By:
- Publication type:
- Article
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00155-9
- By:
- Publication type:
- Article
A novel PTRH2 missense mutation causing IMNEPD: a case report.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00147-9
- By:
- Publication type:
- Article
Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00154-w
- By:
- Publication type:
- Article
A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00153-x
- By:
- Publication type:
- Article
Cerebrovascular diseases in two patients with entire NSD1 deletion.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00151-z
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- Publication type:
- Article
Germline deletion of chromosome 2p16-21 associated with Lynch syndrome.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00152-y
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- Publication type:
- Article
A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00150-0
- By:
- Publication type:
- Article
The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00141-1
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- Publication type:
- Article
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00148-8
- By:
- Publication type:
- Article
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00144-y
- By:
- Publication type:
- Article
Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00145-x
- By:
- Publication type:
- Article
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00143-z
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- Publication type:
- Article
Genetic variability in COVID-19-related genes in the Brazilian population.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00146-w
- By:
- Publication type:
- Article
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00142-0
- By:
- Publication type:
- Article
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00140-2
- By:
- Publication type:
- Article
Novel ARG1 variants identified in a patient with arginase 1 deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm).
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00135-z
- By:
- Publication type:
- Article
Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00137-x
- By:
- Publication type:
- Article
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A pediatric case of productive cough caused by novel variants in DNAH9.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-020-00134-6
- By:
- Publication type:
- Article
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-020-00133-7
- By:
- Publication type:
- Article
Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-020-00128-4
- By:
- Publication type:
- Article