| Is <i>BRCA2</i> involved in early onset colorectal cancer risk? |
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| Front Cover |
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| Issue Information – Editorial Board |
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| <i>VPS26C</i> homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features |
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| Psychological factors that determine people's willingness‐to‐share genetic data for research |
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| Uptake of polygenic risk information among women at increased risk of breast cancer |
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| Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes? |
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| Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome |
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| Missense mutations in <i>SLC25A1</i> are associated with congenital myasthenic syndrome type 23 |
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| <i>COL1</i>‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap |
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| Integrated analysis of <i>COL2A1</i> variant data and classification of type II collagenopathies |
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| Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome |
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| Null variants in <i>AGRN</i> cause lethal fetal akinesia deformation sequence |
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| The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex |
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| Front Cover |
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| Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia |
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| Issue Information ‐ Editorial Board |
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| Functional characterization of novel <i>MFSD8</i> pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy |
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| Chromatinopathies: A focus on Cornelia de Lange syndrome |
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| Sorting nexin 27 (<i>SNX27</i>) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities |
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| Hereditary spastic paraplegia is a novel phenotype for germline de novo <i>ATP1A1</i> mutation |
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| X‐linked intellectual disability: Phenotypic expression in carrier females |
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| Novel <i>CDH3</i> variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing |
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| Clinical variability and probable founder effect in oculocutaneous albinism type 7 |
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| Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in <i>CA8</i> |
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| Who should access germline genome sequencing? A mixed methods study of patient views |
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| Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort |
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| Loss‐of‐function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype |
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| Decisional conflict among adolescents and parents making decisions about genomic sequencing results |
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| Novel Arg128Ala variant in Catechol‐O‐methyltransferase gene influence persistent pain |
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| Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia |
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| Novel variants in <i>CDH2</i> are associated with a new syndrome including Peters anomaly |
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| Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions |
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| Issue Information – Editorial Board |
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| Skeletal abnormalities are common features in Aymé‐Gripp syndrome |
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| Patterns and predictors of genetic referral among ovarian cancer patients at a National Cancer Institute‐Comprehensive Cancer Center |
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| Identification of a novel heterozygous guanosine monophosphate reductase (<i>GMPR</i>) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance |
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| Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology |
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| A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment |
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| Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules |
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| A novel homozygous <i>CFAP65</i> mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella |
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| Evaluating empowerment in genetic counseling using patient‐reported outcomes |
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| Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of <i>TNNI3</i> |
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| Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a <i>COL1A1</i> p.(Arg312Cys) variant |
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French family |
| The homozygous variant c.245G > A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestations |
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| Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies |
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| Growth factor and receptor malfunctions associated with human genetic deafness |
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| A deep intronic <i>SMARCB1</i> variant associated with schwannomatosis |
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| Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts |
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| Issue Information ‐ Editorial Board |
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| Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients |
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Chinese Han; ethnically matched controls |
| Novel mutations in <i>DPM3</i> cause dystroglycanopathy with central nervous system involvement |
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| Novel homozygous variations in <i>PLCZ1</i> lead to poor or failed fertilization characterized by abnormal localization patterns of PLCζ in sperm |
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| The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies |
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| Causative and common <i>PHOX2B</i> variants define a broad phenotypic spectrum |
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| The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease |
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| A homozygous missense variant in <i>CHRM3</i> associated with familial urinary bladder disease |
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| Multiple roles and regulatory mechanisms of the transcription factor GATA6 in human cancers |
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| Urogenital and pelvic complications in the Ehlers‐Danlos syndromes and associated hypermobility spectrum disorders: A scoping review |
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| Prognostic and predictive role of DNA mismatch repair status in stage II‐III colorectal cancer: A systematic review and meta‐analysis |
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| Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort |
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| Molecular defects in thyroid dysgenesis |
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| Novel variant p.E269K confirms causative role of <i>PLS1</i> mutations in autosomal dominant hearing loss |
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| Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia |
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| Meckel syndrome: Clinical and mutation profile in six fetuses |
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| Sex‐limited penetrance of lymphedema to females with <i>CELSR1</i> haploinsufficiency: A second family |
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| Reevaluation of genetic variants previously associated with arrhythmogenic right ventricular cardiomyopathy integrating population‐based cohorts and proteomics data |
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| Issue Information ‐ Editorial Board |
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| Speech, language, and feeding phenotypes of <i>SATB2</i>‐associated syndrome |
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| p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy |
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| <i>MAGEL2</i>‐related disorders: A study and case series |
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| Identification of a dominant <i>MYH11</i> causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing |
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| Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease |
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| Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients |
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| What is new about the genetic background of Hirschsprung disease? |
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| FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems |
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| <i>FARSA</i> mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by <i>FARSB</i> defects |
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| Functional analysis of novel <i>RUNX2</i> mutations identified in patients with cleidocranial dysplasia |
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Polish |
| Syndromic chorioretinal coloboma associated with heterozygous de novo <i>RARA</i> mutation affecting an amino acid critical for retinoic acid interaction |
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| Serum deprivation response functions as a tumor suppressor gene in papillary thyroid cancer |
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| Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system |
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| Heterozygous <i>CTNNB1</i> and <i>TBX4</i> variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity |
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| Bioinformatic detection of copy number variation in <i>HNF4A</i> causing maturity onset diabetes of the young |
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| Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS |
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| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of <i>PLAA</i> |
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| The third family with Eiken syndrome |
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| Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous <i>QRICH2</i> mutations |
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| <i>FGF12</i>p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy |
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| Issue Information ‐ Editorial Board |
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| Confirmation that variants in <i>TTI2</i> are responsible for autosomal recessive intellectual disability |
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| Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition |
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| Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype |
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| Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation |
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| Novel heterozygous variants in <i>KMT2D</i> associated with holoprosencephaly |
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| A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early intervention |
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| Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy |
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| French‐style genetics v. 2.0: The “e‐CohortE” project |
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| A novel bi‐allelic loss‐of‐function variant in <i>MYOD1</i>: Further evidence for gene‐disease association and phenotypic variability in <i>MYOD1</i>‐related myopathy |
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| <i>FLNC</i> pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations |
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| Advances in the gene therapy of monogenic blood cell diseases |
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| Application of <i>CRISPR/Cas9</i> gene editing technique in the study of cancer treatment |
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| Novel TRRAP mutation causes autosomal dominant non‐syndromic hearing loss |
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| Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in <i>HNRNPH2</i> |
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| Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review |
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| Evaluation of <i>SHOX</i> defects in the era of next‐generation sequencing |
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| Issue Information ‐ Editorial Board |
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| Front Cover |
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| Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients |
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Chinese; China |
| Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry |
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| Exome sequencing findings in 27 patients with myoclonic‐atonic epilepsy: Is there a major genetic factor? |
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| Inter‐lab concordance of variant classifications establishes clinical validity of expanded carrier screening |
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| Issue Information ‐ Editorial Board |
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| Allele frequency of pathogenic variants related to adult‐onset Mendelian diseases |
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| Epithelial ovarian cancer risk: A review of the current genetic landscape |
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| The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study |
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| Delineation of <i>MidXq28‐duplication syndrome</i> distal to <i>MECP2</i> and proximal to <i>RAB39B</i> genes |
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| Functional characterization of novel germline <i>TP53</i> variants in Swedish families |
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| A novel <i>WARS</i> mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family |
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Chinese |
| Heterozygous missense variants of <i>SPTBN2</i> are a frequent cause of congenital cerebellar ataxia |
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| Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution |
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| Congenital muscular dystrophies in China |
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| A novel homozygous splice‐site variant of <i>NCAPD2</i> gene identified in two siblings with primary microcephaly: The second case report |
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| 16p13.11 microdeletion uncovers loss‐of‐function of a <i>MYH11</i> missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome |
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| Molecular genetic study of acute intermittent porphyria in Russia: <i>HMBS</i> gene mutation spectrum and problem of penetrance |
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| Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort |
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| Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia |
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| The clinical presentation caused by truncating <i>CHD8</i> variants |
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| An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants |
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| Issue Information ‐ Editorial Board |
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| Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity |
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| Clinical implications of the oncometabolite succinate in <i>SDHx</i>‐mutation carriers |
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| Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta‐analysis |
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| Identification of disease‐causing variants in the <i>EXOSC</i> gene family underlying autosomal recessive intellectual disability in Iranian families |
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✓ |
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Iranian families |
| Whole‐exome sequencing identified <i>ARL2</i> as a novel candidate gene for MRCS (microcornea, rod‐cone dystrophy, cataract, and posterior staphyloma) syndrome |
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| Whole‐exome sequencing revealed a nonsense mutation in <i>STKLD1</i> causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb |
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✓ |
✓ |
Pakistani origin |
| The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders |
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| Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients |
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| Bone Dysplasias. An Atlas of Genetic Disorders of Skeletal Development (Fourth Edition) |
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| Current knowledge of medical complications in adults with achondroplasia: A scoping review |
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| Early activating somatic <i>PIK3CA</i> mutations promote ectopic muscle development and upper limb overgrowth |
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| Heterogeneity and overlaps in nucleotide excision repair disorders |
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| <i>ADA2</i> deficiency due to a novel structural variation in 22q11.1 |
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| Novel <i>COL12A1</i> variant as a cause of mild familial extracellular matrix‐related myopathy |
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| Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients |
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| Identification of <i>SLC20A2</i> deletions in patients with primary familial brain calcification |
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| <i>ATP1A3</i> mosaicism in families with alternating hemiplegia of childhood |
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| Issue Information ‐ Editorial Board |
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| Bain type of X‐linked syndromic mental retardation in boys |
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| Genome‐wide association study identifies new susceptibility loci for diabetic nephropathy in Korean patients with type 2 diabetes mellitus |
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Korean |
| Phenotypic spectrum of <i>NRXN1</i> mono‐ and bi‐allelic deficiency: A systematic review |
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| Genetic counselors' preferences for coverage of preimplantation genetic diagnosis: A discrete choice experiment |
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| Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses |
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| Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome |
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| Assessing optimism and pessimism about genomic medicine: Development of a genomic orientation scale |
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| Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing |
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| Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy |
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| A novel gene (<i>FAM20B</i> encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia |
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| Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees |
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| Telomeropathies: Etiology, diagnosis, treatment and follow‐up. Ethical and legal considerations |
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| Generality of genomic findings on blood pressure traits and its usefulness in precision medicine in diverse populations: A systematic review |
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✓ |
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Europeans |
| <i>DNAH2</i> is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella |
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| A homozygous frameshift variant in an alternatively spliced exon of <i>DLG5</i> causes hydrocephalus and renal dysplasia |
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| Characterizing the phenotypic effect of Xq28 duplication size in <i>MECP2</i> duplication syndrome |
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| Clinical delineation of <i>GTPBP2</i>‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature |
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✓ |
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✓ |
✓ |
black African |
| Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses |
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| PKD1L1‐related situs inversus associated with sideroblastic anemia |
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| Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia |
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| Issue Information ‐ Editorial Board |
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| Front Cover |
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| <i>ADAMTSL1</i> and mandibular prognathism |
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✓ |
✓ |
Thai |
| Further quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytes |
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| Expanding the clinical spectrum associated with <i>PACS2</i> mutations |
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| Deep phenotyping of 14 new patients with <i>IQSEC2</i> variants, including monozygotic twins of discordant phenotype |
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| Liquid biopsy in breast cancer: A comprehensive review |
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| Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement |
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| Assessment of pre‐implantation genetic testing for embryo aneuploidies: A SWOT analysis |
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| Difficulties and challenges in the development of precision medicine |
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| Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain |
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| Newly identified set of obesity‐related genotypes and abdominal fat influence the risk of insulin resistance in a Korean population |
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| Hypermobile Ehlers‐Danlos‐like syndrome in Fabry disease |
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| Constitutional mosaicism in <i>RASA1</i>‐related capillary malformation‐arteriovenous malformation |
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| Correction to: Mutational characteristics of <i>ANK1</i> and <i>SPTB</i> genes in hereditary spherocytosis |
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| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of <i>BPTF</i> in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome |
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| Fetal phenotype of Rubinstein‐Taybi syndrome caused by <i>CREBBP</i> mutations |
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| Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel <i>NPC1</i> mutations |
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| Issue Information ‐ Editorial Board |
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| Novel mutations in <i>WEE2</i>: Expanding the spectrum of mutations responsible for human fertilization failure |
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| MRX93 syndrome (<i>BRWD3</i> gene): five new patients with novel mutations |
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| Variants of the <i>ectodysplasin A1 receptor</i> gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia |
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✓ |
✓ |
Icelandic population; families of Turkish, Austrian, and German-American origin; Icelandic population |
| A novel homozygous sequence variant in <i>GLI1</i> underlies first case of autosomal recessive pre‐axial polydactyly |
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| Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes |
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| Long non‐coding RNAs differential expression in breast cancer subtypes: What do we know? |
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| The genetic pathogenesis, diagnosis and therapeutic insight of rheumatoid arthritis |
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| A study in a Polish ataxia cohort indicates genetic heterogeneity and points to <i>MTCL1</i> as a novel candidate gene |
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| MicroRNA single‐nucleotide polymorphisms and diabetes mellitus: A comprehensive review |
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| A genome‐wide association study identifies new genes associated with developmental dysplasia of the hip |
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✓ |
✓ |
Chinese Han |