| Cardiac characterization of 16 patients with large <i><scp>NF1</scp></i> gene deletions |
|
|
|
|
|
|
|
|
|
| Homozygosity for a <i><scp>FBN1</scp></i> missense mutation causes a severe Marfan syndrome phenotype |
|
|
|
|
|
|
|
|
|
| <scp>cDNA</scp> analysis of the <i><scp>BRCA1</scp></i> unclassified variant c.5194‐<scp>12G</scp>><scp>A</scp> |
|
|
|
|
|
|
|
|
|
| Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas–Papas syndrome |
|
|
|
|
|
|
|
|
|
| A germline mosaic <i><scp>BRCA1</scp></i> exon deletion in a woman with bilateral basal‐like breast cancer |
|
|
|
|
|
|
|
|
|
| Mutation identification of Fabry disease in families with other lysosomal storage disorders |
|
|
|
|
|
|
✓ |
✓ |
Italian |
| Syndromic non‐compaction of the left ventricle: associated chromosomal anomalies |
|
|
|
|
|
|
|
|
|
| A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11 |
|
|
|
|
|
|
|
|
|
| New evidence for, and challenges in, linking small <scp>CGG</scp> repeat expansion <scp>FMR1</scp> alleles with Parkinson's disease |
|
|
|
|
|
|
|
|
|
| Novel <i><scp>OTOA</scp></i> mutations cause autosomal recessive non‐syndromic hearing impairment in Pakistani families |
|
|
|
|
|
|
|
|
|
| The <i><scp>MSH2</scp></i> c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families |
|
|
|
|
|
|
✓ |
✓ |
Portuguese ancestry; originating from the north of Portugal; mentions families from Germany, Scotlan |
| Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype |
|
|
|
|
|
|
|
|
|
| Knowledge of the Genetic Information Nondiscrimination act among individuals affected by Huntington disease |
|
|
|
|
|
|
|
|
|
| Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study |
|
|
|
|
|
|
|
|
|
| Aging in Rett syndrome: a longitudinal study |
|
|
|
|
|
|
✓ |
✓ |
Dutch |
| Homozygous truncation of SIX6 causes complex microphthalmia in humans |
|
|
|
|
|
|
|
|
|
| Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non‐syndromic tooth agenesis |
|
|
|
|
|
|
|
|
|
| Prenatal diagnostic conundrum involving a novel <i><scp>ATP7A</scp></i> duplication |
|
|
|
|
|
|
|
|
|
| Incomplete nonsense‐mediated decay facilitates detection of a multi‐exonic deletion mutation in <i><scp>SGCE</scp></i> |
|
|
|
|
|
|
|
|
|
| Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan |
|
|
|
|
|
|
|
|
|
| Neurodevelopmental consequences of maternal distress: what do we really know? |
|
|
|
|
|
|
|
|
|
| Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands |
|
|
|
|
|
|
|
|
|
| Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms |
|
|
|
|
|
|
|
|
|
| To tell or not to tell – what to do about p.<scp>C282Y</scp> heterozygotes identified by <i><scp>HFE</scp></i> screening |
|
|
|
|
|
|
|
|
|
| Comparison of X‐chromosome inactivation in Duchenne muscle/myocardium‐manifesting carriers, non‐manifesting carriers and related daughters |
|
|
|
|
|
|
|
|
|
| Cross‐sectional assessment of pain and physical function in skeletal dysplasia patients |
|
|
|
|
|
|
|
|
|
| Inheritance of the chronic myeloproliferative neoplasms. A systematic review |
|
|
|
|
|
|
|
|
|
| Association of <scp>HLA</scp> locus variant in Parkinson's disease |
|
✓ |
|
|
|
|
|
|
|
| Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array <scp>CGH</scp> |
|
|
|
|
|
|
|
|
|
| Parental origin of mutation and the risk of breast cancer in a prospective study of women with a <i><scp>BRCA1</scp></i> or <i><scp>BRCA2</scp></i> mutation |
|
|
|
|
|
|
|
|
|
| Beckwith–Wiedemann syndrome and long <scp>QT</scp> syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the <i><scp>KCNQ1</scp></i> gene |
|
|
|
|
|
|
|
|
|
| Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria |
|
|
|
|
|
|
|
|
|
| <i><scp>BMPR1A</scp></i> mutations in early‐onset colorectal cancer with mismatch repair proficiency |
|
|
|
|
|
|
|
|
|
| Is multiple<scp>SNP</scp>testing in<i><scp>BRCA2</scp></i>and<i><scp>BRCA1</scp></i>female carriers ready for use in clinical practice? Results from a large Genetic Centre in the<scp>UK</scp> |
|
|
|
|
|
|
|
|
|
| CCMG statement on gene patents |
|
|
|
|
|
|
|
|
|
| <i><scp>OCA5,</scp></i> a novel locus for non‐syndromic oculocutaneous albinism, maps to chromosome 4q24 |
|
|
|
|
|
|
|
|
|
| The <scp>M694V</scp> mutation in Armenian‐Americans: a 10‐year retrospective study of <i><scp>MEFV</scp></i> mutation testing for familial Mediterranean fever at <scp>UCLA</scp> |
|
|
|
|
|
|
|
|
|
| <i><scp>OFD1</scp></i> mutations in males: phenotypic spectrum and ciliary basal body docking impairment |
|
|
|
|
|
|
|
|
|
| Early‐onset epileptic encephalopathy in a girl carrying a truncating mutation of the <i><scp>ARX</scp></i> gene: rethinking the <i><scp>ARX</scp></i> phenotype in females |
|
|
|
|
|
|
|
|
|
| Providing predictive testing for Huntington disease via telehealth: results of a pilot study in British Columbia, Canada |
|
|
|
|
|
|
|
|
|
| Reduced cancer incidence in Huntington's disease: record linkage study clue to an evolutionary trade‐off? |
|
|
|
|
|
|
|
|
|
| Application of chromosomal microarray in the evaluation of abnormal prenatal findings |
|
|
|
|
|
|
|
|
|
| Absence of <i><scp>PMS2</scp></i> mutations in colon‐<scp>CFR</scp> participants whose colorectal cancers demonstrate unexplained loss of <scp>MLH1</scp> expression |
|
|
|
|
|
|
|
|
|
| Identification of the <scp><i>CFTR</i></scp> p.<scp>Phe508Del</scp> founder mutation in the absence of a polythymidine <scp>9T</scp> allele in a Hispanic patient |
|
|
|
|
|
|
✓ |
|
Hispanic |
| Fragile X‐associated tremor/ataxia syndrome (<scp>FXTAS</scp>) in grey zone carriers |
|
|
|
|
|
|
|
|
|
| Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome |
|
|
|
|
|
|
|
|
|
| First successful double‐factor <scp>PGD</scp> for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening |
|
|
|
|
|
|
|
|
|
| Caught in the AKT: identification of a <i>de novo</i> pathway in MCAP and MPPH and its therapeutic implications |
|
|
|
|
|
|
|
|
|
| Investigation of primary microcephaly in Bushehr province of Iran: novel <i><scp>STIL</scp></i> and <i><scp>ASPM</scp></i> mutations |
|
|
|
|
|
|
|
|
|
| Mutation type and position varies between mosaic and inherited <scp>NF2</scp> and correlates with disease severity |
|
|
|
|
|
|
|
|
|
| Molecular characterization and clinical presentation of <scp>HK</scp>αα and anti‐<scp>HK</scp>αα alleles in southern Chinese subjects |
|
|
|
|
|
|
✓ |
✓ |
southern Chinese; Guangxi Zhuang Autonomous Region |
| The effect of fetal androgen metabolism‐related gene variants on external genitalia virilization in congenital adrenal hyperplasia |
|
|
|
|
|
|
|
|
|
| Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth |
|
|
|
|
|
|
✓ |
✓ |
Gypsy |
| Evaluating rare coding variants as contributing causes to non‐syndromic cleft lip and palate |
|
|
|
|
|
|
|
|
|
| Recurrent mutations in<i><scp>DNAJC5</scp></i>cause autosomal dominant Kufs disease |
|
|
|
|
|
|
|
|
|
| A study of the <scp><i>SCN5A</i></scp> gene in a cohort of 76 patients with Brugada syndrome |
|
|
|
|
|
|
|
|
|
| Mutation spectrum of <i><scp>RB1</scp></i> gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis |
|
|
|
|
|
|
✓ |
|
Korean |
| Clinical and genetic analysis of patients with X‐linked hyper‐<scp>IgM</scp> syndrome |
|
|
|
|
|
|
|
|
|
| Exome sequencing identifies <i><scp>UPF3B</scp></i> as the causative gene for a Chinese non‐syndrome mental retardation pedigree |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Craniofacial and dental development in cardio‐facio‐cutaneous syndrome: the importance of Ras signaling homeostasis |
|
|
|
|
|
|
|
|
|
| Novel missense mutations of <scp>WNK1</scp> in patients with hypokalemic salt‐losing tubulopathies |
|
|
|
|
|
|
|
|
|
| Novel <scp><i>SLC9A6</i></scp> mutations in two families with Christianson syndrome |
|
|
|
|
|
|
|
|
|
| Whole exome sequencing identifies a novel <scp><i>DFNA9</i></scp> mutation, <scp>C162Y</scp> |
|
|
|
|
|
|
|
|
|
| Characterization of <i><scp>NF1</scp></i> allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1 |
|
|
|
|
|
|
|
|
|
| Physicians’ Perspectives on the Uncertainties and Implications of Chromosomal Microarray Testing of Children and Families |
|
|
|
|
|
|
|
|
|
| Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications |
|
|
|
|
|
|
|
|
|
| <i>PIK3CA</i>, a hotspot for postzygotic mutations in nonhereditary overgrowth syndromes |
|
|
|
|
|
|
|
|
|
| Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki‐Shaffer syndrome |
|
|
|
|
|
|
|
|
|
| Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness |
|
|
|
|
|
|
|
|
|
| <i><scp>MLL2</scp></i> mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome |
|
|
|
|
|
|
|
|
|
| Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease |
|
|
|
|
|
|
|
|
|
| Genotype–phenotype studies of <scp>VCP</scp>‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia |
|
|
|
|
|
|
|
|
|
| Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the <scp>IRE</scp> of the <i><scp>FTL</scp></i> gene |
|
|
|
|
|
|
|
|
|
| Detection of genomic deletions of <i><scp>PKP2</scp></i> in arrhythmogenic right ventricular cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Corrigendum |
|
|
|
|
|
|
|
|
|
| Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis |
|
|
|
|
|
|
|
|
|
| <i>Drosophila</i> as a tool for studying the conserved genetics of pain |
|
|
|
|
|
|
|
|
|
| Painful gains: missense mutations in <i><scp>SCN9A</scp></i> and idiopathic small nerve fibre neuropathy |
|
|
|
|
|
|
|
|
|
| PS: Pain and sodium channels |
|
|
|
|
|
|
|
|
|
| Heritability of pain sensitivity and opioid analgesia |
|
|
|
|
|
|
|
|
|
| Fabry disease in children: agalsidase‐beta enzyme replacement therapy |
|
|
|
|
|
|
|
|
|
| The <i>BRCA1</i><scp>S1715N</scp> mutation segregates with breast and ovarian cancer in an extended family pedigree |
|
|
|
|
|
|
|
|
|
| Human Mendelian pain disorders: a key to discovery and validation of novel analgesics |
|
|
|
|
|
|
|
|
|
| <scp>SOX2</scp> anophthalmia syndrome in adulthood – a neurodegenerative picture? |
|
|
|
|
|
|
|
|
|
| Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children |
|
|
|
|
|
|
|
|
|
| Twin studies of pain |
|
|
|
|
|
|
|
|
|
| Genetic aspects of sodium channelopathy in small fiber neuropathy |
|
|
|
|
|
|
|
|
|
| Corrigendum |
|
|
|
|
|
|
|
|
|
| Obituary: Dr. David L. Rimoin |
|
|
|
|
|
|
|
|
|
| Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure |
|
|
|
|
|
|
|
|
|
| Pharmacogenetics of pain and analgesia |
|
|
|
|
|
|
|
|
|
| Opioid genetics: the key to personalized pain control? |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity in Pakistani microcephaly families |
|
|
|
|
|
|
✓ |
✓ |
Pakistani; Iran; India; Pakistani founder mutation; Pakistani population |
| From mouse to humans: discovery of the<scp><i>CACNG2</i></scp>pain susceptibility gene |
|
|
|
|
|
|
|
|
|
| Primary care physicians' knowledge of and experience with pharmacogenetic testing |
|
|
|
|
|
|
|
|
|
| A phase 1 enzyme replacement study offers promise for severe hypophospahatasia |
|
|
|
|
|
|
|
|
|
| Rethinking the genetic basis and inheritance of fascioscapulohumeral muscular dystrophy |
|
|
|
|
|
|
|
|
|
| New insights into familial diarrhea syndrome |
|
|
|
|
|
|
|
|
|
| Effects of informed consent for individual genome sequencing on relevant knowledge |
|
|
|
|
|
|
✓ |
✓ |
non‐Hispanic Whites; minority racial/ethnic groups |
| Parent–child exome sequencing identifiesa <i>de novo</i> truncating mutation in <i>TCF4</i> in non‐syndromic intellectual disability |
|
|
|
|
|
|
|
|
|
| A prevalent founder mutation and genotype–phenotype correlations of <i>OTOF</i> in Japanese patients with auditory neuropathy |
|
|
|
|
|
|
✓ |
✓ |
Japanese |
| Autosomal dominant amelogenesis imperfecta associated with <i>ENAM</i> frameshift mutation p.Asn36Ilefs56 |
|
|
|
|
|
|
|
|
|
| Whole genomes in the clinic: uncovering <i>de novo</i> mutations in sporadic infantile epilepsy |
|
|
|
|
|
|
|
|
|
| Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep <i>NF1</i> intronic mutation |
|
|
|
|
|
|
|
|
|
| Corrigendum |
|
|
|
|
|
|
|
|
|
| A role for genetic counsellors and clinical geneticists in pharmacogenetics? |
|
|
|
|
|
|
|
|
|
| Response to Newman et al. |
|
|
|
|
|
|
|
|
|
| Detection of <i>BRCA1/2</i> mutations in breast cancer patients from Thailand and Pakistan |
|
|
|
|
|
|
|
|
|
| An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps |
|
|
|
|
|
|
|
|
|
| Two double heterozygotes in a South African Afrikaner family: implications for <i>BRCA1</i> and <i>BRCA2</i> predictive testing |
|
|
|
|
|
|
✓ |
|
Afrikaner |
| Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome |
|
|
|
|
|
|
|
|
|
| Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome |
|
|
|
|
|
|
✓ |
✓ |
Danish |
| Co‐morbidity of complex genetic disorders and hypersomnias of central origin: lessons from the underlying neurobiology of wake and sleep |
|
|
|
|
|
|
|
|
|
| Exome sequencing in a family with an X‐linked lethal malformation syndrome: clinical consequences of hemizygous truncating <i>OFD1</i> mutations in male patients |
|
|
|
|
|
|
|
|
|
| <i>MEF2C</i> mutations are a rare cause of Rett or severe Rett‐like encephalopathies |
|
|
|
|
|
|
|
|
|
| A novel frameshift mutation of the <i>GLI3</i> gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet |
|
|
|
|
|
|
|
|
|
| Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades? |
|
|
|
|
|
|
|
|
|
| Arterial anomalies in arterial tortuosity syndrome: a sour‐sweet pathology? |
|
|
|
|
|
|
|
|
|
| Chinese Americans' views of prenatal genetic testing in the genomic era: a qualitative study |
|
|
|
|
|
|
|
|
|
| Clinical and molecular analysis of RASopathies in a group of Turkish patients |
|
|
|
|
|
|
✓ |
✓ |
"Turkish"; "ethnic population background" |
| Whole‐genome sequencing and the physician |
|
|
|
|
|
|
|
|
|
| Balearic archipelago: three islands, three beta‐thalassemia population patterns |
|
|
|
|
|
|
|
|
Iberian populations; Western Mediterranean population |
| A common tool for rare diseases |
|
|
|
|
|
|
|
|
|
| Next‐generation sequencing: ready for the clinics? |
|
|
|
|
|
|
|
|
|
| Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations |
|
|
|
|
|
|
|
|
|
| Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability |
|
|
|
|
|
|
|
|
|
| 7q11.23 Microduplication: a recognizable phenotype |
|
|
|
|
|
|
|
|
|
| The Ehlers–Danlos syndrome, a disorder with many faces |
|
|
|
|
|
|
|
|
|
| Preimplantation and prenatal genetic diagnosis for androgen insensitivity syndrome resulting from a novel deletion/insertion mutation |
|
|
|
|
|
|
|
|
|
| Genotype–phenotype correlation in X‐linked Alport syndrome patients carrying missense mutations in the collagenous domain of <i>COL4A5</i> |
|
|
|
|
|
|
|
|
|
| Familial Breast Cancer |
|
|
|
|
|
|
|
|
|
| <i>PLP1</i> duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus–Merzbacher disease in a girl |
|
|
|
|
|
|
|
|
|
| Rare occurrence of <i>PALB2</i> mutations in ovarian cancer patients from the Volga‐Ural region |
|
|
|
|
|
|
|
|
|
| Stüve–Wiedemann syndrome and related bent bone dysplasias |
|
|
|
|
|
|
|
|
|
| Integrating genomic and epigenomic information: a promising strategy for identifying functional DNA variants of human disease |
|
|
|
|
|
|
|
|
|
| A puzzle over several decades: eye anomalies with <i>FRAS1</i> and <i>STRA6</i> mutations in the same family |
|
|
|
|
|
|
|
|
|
| Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing |
|
|
|
|
|
|
|
|
|
| Mutations in the <i>NOG</i> gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis |
|
|
|
|
|
|
|
|
|
| 46, XY gonadal dysgenesis: new <i>SRY</i> point mutation in two siblings with paternal germ line mosaicism |
|
|
|
|
|
|
|
|
|
| Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis |
|
|
|
|
|
|
|
|
|
| Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of <i>IGF2</i>/<i>H19</i> in Silver–Russell syndrome |
|
|
|
|
|
|
|
|
|
| Epigenetics of colorectal cancer |
|
|
|
|
|
|
|
|
|
| Colon‐specific phenotype in Lynch syndrome associated with <i>EPCAM</i> deletion |
|
|
|
|
|
|
|
|
|
| <i>CCBE1</i> mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non‐immune hydrops fetalis |
|
|
|
|
|
|
|
|
|
| The early‐life social environment and DNA methylation |
|
|
|
|
|
|
|
|
|
| Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline <i>TP53</i> mutations |
|
|
|
|
|
|
|
|
|
| Female factor IX deficiency due to maternally inherited X‐inactivation |
|
|
|
|
|
|
|
|
|
| Schizophrenia as variation in the sapiens‐specific epigenetic instruction to the embryo |
|
|
|
|
|
|
|
|
|
| What does the nature of the <i>MECP2</i> mutation tell us about parental origin and recurrence risk in Rett syndrome? |
|
|
|
|
|
|
|
|
|
| Deletion of <i>CUL4B</i> leads to concordant phenotype in a monozygotic twin pair |
|
|
|
|
|
|
|
|
|
| Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects |
|
|
|
|
|
|
|
|
|
| Getting to the bottom of autism spectrum and related disorders: <i>MBD5</i> as a key contributor |
|
|
|
|
|
|
|
|
|
| It is ALL about the 6p22 histone gene cluster: characterizing the unique genetic features of Down's syndrome patients |
|
|
|
|
|
|
|
|
|
| A new era of non‐invasive prenatal genetic diagnosis: exploiting fetal epigenetic differences |
|
|
|
|
|
|
|
|
|
| A novel approach to the management and use of personal genome variants in clinical practice |
|
|
|
|
|
|
|
|
|
| Aicardi–Goutieres syndrome: from patients to genes and beyond |
|
|
|
|
|
|
|
|
|
| Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes |
|
|
|
|
|
|
|
|
|
| The Huntington's Disease health‐related Quality of Life questionnaire (HDQoL): a disease‐specific measure of health‐related quality of life |
|
|
|
|
|
|
|
|
|