| Identification of an <i><scp>IGSF3</scp></i> mutation in a family with congenital nasolacrimal duct obstruction |
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| Rare variants in <i>methionyl</i>‐ and <i>tyrosyl‐<scp>tRNA</scp> synthetase</i> genes in late‐onset autosomal dominant Charcot–Marie–Tooth neuropathy |
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| Genotype–phenotype analysis of Jervell and Lange‐Nielsen syndrome in six families from Saudi Arabia |
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| A novel mutation of the leptin gene in an Indian patient |
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| Mutations of codon 2085 in the helicase domain of <i><scp>ATRX</scp></i> are recurrent and cause <scp>ATRX</scp> syndrome |
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| Novel <i><scp>B4GALNT1</scp></i> mutations in a complicated form of hereditary spastic paraplegia |
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| Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India |
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| Frequency of <i><scp>DMPK</scp></i> mutation carriers in Korean women of childbearing age |
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| Array‐<scp>CGH</scp> is an effective first‐tier diagnostic test for <i><scp>EFTUD2</scp></i>‐associated congenital mandibulofacial dysostosis with microcephaly |
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| Pellagra‐like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit |
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| Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in <i><scp>MEFV</scp></i> gene in the Czech Republic |
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| Deep intronic <scp>KRIT1</scp> mutation in a family with clinically silent multiple cerebral cavernous malformations |
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| Evolution of a genetic diagnosis |
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| A comprehensive laboratory‐based program for classification of variants of uncertain significance in hereditary cancer genes |
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| A novel <i>de novo</i> point mutation of the <scp>OCT</scp>‐binding site in the <i><scp>IGF2</scp></i>/<i><scp>H19</scp></i>‐imprinting control region in a Beckwith–Wiedemann syndrome patient |
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| Molecular analyses of novel <i><scp>ASAH1</scp></i> mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation |
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✓ |
✓ |
Indian population |
| Communication and technology in genetic counseling for familial cancer |
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| Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys–Dietz syndrome and phenotype–genotype correlations |
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| Preventing ovarian cancer through genetic testing: a population‐based study |
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| A recurrent mutation in <i><scp>DEPDC5</scp></i> predisposes to focal epilepsies in the French‐Canadian population |
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✓ |
✓ |
French-Canadian (FC) population |
| Familial intellectual disability in an Iranian family with a novel truncating mutation in <scp>CEP290</scp> |
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| Homozygous loss‐of‐function mutation of the <i><scp>LEPREL1</scp></i> gene causes severe non‐syndromic high myopia with early‐onset cataract |
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| Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a <i><scp>TGFBR1</scp></i> or <i><scp>TGFBR2</scp></i> mutation |
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| Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of <scp>ARSACS</scp> |
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| Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy |
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| Molecular and phenotypic characterization of atypical Williams–Beuren syndrome |
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| Delineating the effects <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> loss of heterozygosity in pancreatic cancer progression |
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| A novel deletion to normal size in the sperm of a fragile <scp>X</scp> full mutation male |
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| Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant <i><scp>FAM111A</scp></i> mutation p.<scp>Arg569His</scp> |
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| <scp>BRCA1</scp>/2 negative status predicts no extended risk of invasive ovarian cancer |
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| Application of variant‐calling algorithms for Mendelian disorders: lessons from whole‐exome sequencing in Charcot–Marie–Tooth disease |
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| Germline mutations and genotype–phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea |
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| Genomic signatures of <i><scp>BRCA1</scp></i> but not <i><scp>BRCA2</scp></i> associated high‐grade serous carcinoma resemble basal‐like breast cancer |
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| Exome sequencing identifies mutations in <i><scp>KIF14</scp></i> as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype |
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| Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients |
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| <i>De novo</i> mutation in the <i><scp>KCNQ1</scp></i> gene causal to Jervell and Lange‐Nielsen syndrome |
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| Ethnic differences in <i><scp>GRHPR</scp></i> mutations in patients with primary hyperoxaluria type 2 |
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✓ |
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✓ |
✓ |
Indian subcontinent; Chinese; Japanese; East Asian; patients from the Indian subcontinent; patients |
| Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies |
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| <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> – update and implications on the genetics of breast cancer: a clinical perspective |
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| Novel homozygous mutation in exon 5 of <i><scp>WFS1</scp></i> gene in an Apulian family with mild phenotypic expression of Wolfram syndrome |
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✓ |
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Apulian family |
| Alu‐mediated large deletion of the <scp>CDSN</scp> gene as a cause of peeling skin disease |
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| Aminoacylase I deficiency due to <scp>ACY1 mRNA</scp> exon skipping |
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| The psychological impact of breast and ovarian cancer preventive options in <i>BRCA1</i> and <i>BRCA2</i> mutation carriers |
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| Breast cancer genetics: 20 years later |
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| Genetics of hypertrophic cardiomyopathy in Norway |
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| Novel cilia‐dependent pathway activates rapid cyst growth in autosomal dominant polycystic kidney disease |
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| Cholesterol metabolism is a potential therapeutic target for Rett syndrome |
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| Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar |
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| <i><scp>PTEN</scp></i> inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte–Duclos disease manifesting progressive phenotypes |
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| Huntington disease and Huntington disease‐like in a case series from Brazil |
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| Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families |
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| <scp>FXTAS</scp> in an unmethylated mosaic male with fragile X syndrome from Chile |
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| The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation? |
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| Functional characterization of the c.<scp>462delA</scp> mutation in the <i><scp>NDUFS4</scp></i> subunit gene of mitochondrial complex I |
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| Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia |
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| Polydactyly: phenotypes, genetics and classification |
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| A homozygous mutation in a consanguineous family consolidates the role of <i><scp>ALDH1A3</scp></i> in autosomal recessive microphthalmia |
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| High prevalence of <i><scp>BRCA1</scp></i> founder mutations in Greek breast/ovarian families |
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✓ |
✓ |
Greek population; patients of Greek origin |
| Correlation between genotype and phenotype in patients with bi‐allelic <i><scp>SLC26A4</scp></i> mutations |
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| <scp>SPG4</scp>‐related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil |
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| Lynch syndrome mutations shared by the Baltic States and Poland |
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| Pathogenic variants in non‐protein‐coding sequences |
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| What is a biobank? Differing definitions among biobank stakeholders |
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| National mutation study among Danish patients with hereditary haemorrhagic telangiectasia |
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✓ |
✓ |
Danish |
| Implementation of high‐resolution <scp>SNP</scp> arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience |
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| Risk of having <scp>BRCA1</scp> mutation in high‐risk women with triple‐negative breast cancer: a meta‐analysis |
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| A systematic approach to assessing the clinical significance of genetic variants |
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| Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases |
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| Nager syndrome: confirmation of <i><scp>SF3B4</scp></i> haploinsufficiency as the major cause |
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| Comprehensive analysis of dural ectasia in 150 patients with a causative <i><scp>FBN1</scp></i> mutation |
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| Broadening the phenotype of <scp>LRP2</scp> mutations: a new mutation in <scp>LRP2</scp> causes a predominantly ocular phenotype suggestive of Stickler syndrome |
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| Proteus syndrome review: molecular, clinical, and pathologic features |
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| Autosomal dominant <i><scp>PIK3R1</scp></i> mutations cause <scp>SHORT</scp> syndrome |
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| <i><scp>PIK3R1</scp></i> mutations in <scp>SHORT</scp> syndrome |
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| Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease |
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| Overexpression of <scp>G100S</scp> mutation in <scp>PRKAG2</scp> causes Wolff–Parkinson–White syndrome in zebrafish |
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✓ |
✓ |
Chinese |
| Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children |
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| Molecular analysis for patients with <scp>IL</scp>‐12 receptor β1 deficiency |
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| The future in clinical genetics: affective forecasting biases in patient and clinician decision making |
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| The utilization of pre‐implantation genetic testing in the absence of governance: a real‐time experience |
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| Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation |
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| A founder mutation in <i><scp>COL4A3</scp></i> causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population |
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✓ |
✓ |
Ashkenazi Jewish |
| Cleft lip/palate associated with 17p13.3 duplication involving a single candidate gene (<i><scp>YWHAE</scp></i>) |
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| Functional analysis and <i>in vitro</i> correction of splicing <i><scp>FAH</scp></i> mutations causing tyrosinemia type I |
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| Making headway with genetic diagnostics of intellectual disabilities |
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| Pathogenic or not? Assessing the clinical relevance of copy number variants |
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| Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype–genotype study |
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| Gynecologic cancer screening and communication with health care providers in women with Lynch syndrome |
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| Early infantile onset of atypical hemolytic‐uremic syndrome is caused by recessive mutations in <scp>DGKE</scp> |
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| Novel <i><scp>B3GALTL</scp></i> mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes |
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| Novel <i><scp>DEPDC5</scp></i> mutations causing familial focal epilepsy with variable foci identified |
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| Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature |
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| Mutations in <scp>PDGFRB</scp> and <scp>NOTCH3</scp> are the first genetic causes identified for autosomal dominant infantile myofibromatosis |
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| Health care provider recommendations for reducing cancer risks among women with a <i> BRCA1</i> or <i>BRCA2</i> mutation |
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| Hereditary inclusion body myopathy in Persian Jews: a case report from Iran |
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✓ |
|
Persian Jews |
| Whole‐exome sequencing expands the phenotype of Hunter syndrome |
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| <scp>LQTS</scp> in Northern <scp>BC</scp>: homozygosity for <i><scp>KCNQ1</scp></i><scp>V205M</scp> presents with a more severe cardiac phenotype but with minimal impact on auditory function |
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✓ |
✓ |
First Nations communities |
| Identification of three novel <i><scp>ECEL1</scp></i> mutations in three families with distal arthrogryposis type <scp>5D</scp> |
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| Novel c.<scp>191C</scp>>G (p.<scp>Pro64Arg</scp>) <i><scp>MPV17</scp></i> mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy |
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✓ |
✓ |
Polish |
| Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome |
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| Carrier frequency of two <i><scp>BBS2</scp></i> mutations in the Ashkenazi population |
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✓ |
✓ |
Ashkenazi; Ashkenazi Jewish descent; Ashkenazi Jewish population |
| Retrospective study of the medium‐chain acyl‐<scp>CoA</scp> dehydrogenase deficiency in Portugal |
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✓ |
✓ |
Gypsy ancestry |
| Molecular cytogenetics: recent developments and applications in cancer |
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| High incidence of large deletions in the <i>PMS2</i> gene in Spanish Lynch syndrome families |
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✓ |
✓ |
Spanish |
| Extensive sequence analysis of <i><scp>CFTR</scp></i>, <i><scp>SCNN1A</scp></i>, <i><scp>SCNN1B</scp></i>, <i><scp>SCNN1G</scp></i> and <i><scp>SERPINA1</scp></i> suggests an oligogenic basis for cyst |
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| Whole exome sequencing revealed biallelic <i><scp>IFT122</scp></i> mutations in a family with <scp>CED1</scp> and recurrent pregnancy loss |
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| Bernarda Strauss, <scp>MD</scp>, 1964–2013: a remembrance |
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| Coffin–Siris syndrome is a <scp>SWI</scp>/<scp>SNF</scp> complex disorder |
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| Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr‐381 residue in <i><scp>FGFR2</scp></i> gene |
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| Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndrome |
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| Expanding the phenotypic spectrum of <i>ECEL1</i>‐related congenital contracture syndromes |
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| Incontinentia pigmenti diagnostic criteria update |
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| Somatic mosaicism for a <i><scp>FOXG1</scp></i> mutation: diagnostic implication |
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| Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the <i><scp>SMN1</scp></i> gene |
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| Split hand/foot malformation with long‐bone deficiency and <i><scp>BHLHA9</scp></i> duplication: report of 13 new families |
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| Severe combined immunodeficiency: first report of a <i>de novo</i> mutation in the <i>IL2RG</i> gene in a boy conceived by <i>in vitro</i> fertilization |
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| Pregnancy in an individual with mild Smith–Lemli–Opitz syndrome |
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| Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases |
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| Clinical implications of genetic testing for <scp>BRCA1</scp> and <scp>BRCA2</scp> mutations in Austria |
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✓ |
✓ |
Austrian; Austrian women |
| A family with two female siblings with compound heterozygous <i><scp>FMR1</scp></i> premutation alleles |
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| Floating‐Harbor syndrome: <i><scp>SRCAP</scp></i> mutations are not restricted to exon 34 |
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| Isolated hypermethylation of <i>GRB10</i> (7p12.2) in a Silver–Russell syndrome patient carrying a 20p13 microdeletion |
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| <i><scp>AKT3</scp></i> and <i><scp>PIK3R2</scp></i> mutations in two patients with megalencephaly‐related syndromes: <scp>MCAP</scp> and <scp>MPPH</scp> |
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| Phenotypic variability of a likely <scp>FA2H</scp> founder mutation in a family with complicated hereditary spastic paraplegia |
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| Linking distant relatives with <i><scp>BRCA</scp></i> gene mutations: potential for cost savings |
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| APC promoter 1B deletion in familial polyposis—implications for mutation‐negative families |
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| Further genotype–phenotype correlation emerging from two families with <i><scp>PLP1</scp></i> exon 4 skipping |
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| Novel lip pit phenotypes and mutations of<i><scp>IRF6</scp></i>in Van der Woude syndrome patients from Pakistan |
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| Age‐related macular degeneration—clinical review and genetics update |
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| The golden era of ocular disease gene discovery: Race to the finish |
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| Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families |
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| Niemann–Pick type C disease: a novel <i><scp>NPC1</scp></i> mutation segregating in a Greek island |
|
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✓ |
✓ |
Greek; Aegean Sea island; panethnic; originating from the same small town; common surname; common de |
| Whole‐genome copy number variation analysis in anophthalmia and microphthalmia |
|
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| Genetic variation in <i><scp>MKL2</scp></i> and decreased downstream <scp>PCTAIRE1</scp> expression in extreme, fatal primary human microcephaly |
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| Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with <i><scp>LZTFL1</scp></i> (<i><scp>BBS17</scp></i>) mutations |
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| Genes and mutations causing retinitis pigmentosa |
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| <i>WDR19</i>
: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome |
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| Could a patient with <i><scp>SMC1A</scp></i> duplication be classified as a human cohesinopathy? |
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| Frequency of <i><scp>FMR1</scp></i> premutation carriers and rate of expansion to full mutation in a retrospective diagnostic <i><scp>FMR1</scp></i> Korean sample |
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✓ |
✓ |
Korean; Western populations |
| Recurrence of Hirschsprung disease due to maternal mosaicism of a novel <i><scp>RET</scp></i> gene mutation |
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| Genetics of the corneal endothelial dystrophies: an evidence-based review |
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| Providing comprehensive genetic-based ophthalmic care |
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| eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing |
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| Funding considerations for the disclosure of genetic incidental findings in biobank research |
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| A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands |
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| Whole exome sequencing and functional studies identify an intronic mutation in <i><scp>TRAPPC2</scp></i> that causes <scp>SEDT</scp> |
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| <i><scp>WDR45</scp></i> mutations define a novel disease entity—Static Encephalopathy of Childhood with Neurodegeneration in Adulthood |
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| Mutations in<i>ALDH1A3</i>cause microphthalmia |
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| Genetics of human cataract |
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| Alternative splicing and retinal degeneration |
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| Genetic susceptibility and mechanisms for refractive error |
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| Non‐invasive prenatal diagnosis for single gene disorders: experience of patients |
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| Screening for <scp>BRCA1</scp> and <scp>BRCA2</scp> mutations among French‐Canadian breast cancer cases attending an outpatient clinic in Montreal |
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✓ |
✓ |
French‐Canadian |
| The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings |
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| Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism |
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| Telomere shortening by mutations in the <i><scp>RTEL1</scp></i> helicase cause severe form of dyskeratosis congenita, Hoyerall‐Hreidarsson syndrome |
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| Variations in<i>COL15A1</i>and<i>COL18A1</i>influence age of onset of primary open angle glaucoma |
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| Rare autosomal dominant mutations in <i><scp>GNAL</scp></i> are associated with primary torsion dystonia |
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| Identification of novel locus at chromosome 3p12.3‐q13.31 for autosomal recessive intellectual disability in a consanguineous family |
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| Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving <i><scp>EFNB1</scp></i>: further insights into a genetic paradox |
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| High carrier frequency of 21‐hydroxylase deficiency in Cyprus |
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| Analysis of <i><scp>ASPM</scp></i> in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory |
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✓ |
✓ |
East Asian and Middle Eastern origin; Hispanic descent |
| Retinal optogenetic therapies: clinical criteria for candidacy |
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| A deleterious mutation in the <i><scp>PEX2</scp></i> gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent |
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✓ |
✓ |
Ashkenazi Jewish descent; Ashkenazi population |
| ‘Information is information’: a public perspective on incidental findings in clinical and research genome‐based testing |
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| Multiplex targeted high‐throughput sequencing for Mendelian cardiac disorders |
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| Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB‐crystallinopathies |
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| Perceptions of genetic counseling services in direct‐to‐consumer personal genomic testing |
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| ‘Deletion rescue’ by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome |
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| Recurrent mutation in the <i><scp>PIEZO1</scp></i> gene in two families of hereditary xerocytosis with fetal hydrops |
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| Cutaneous clues for diagnosing X‐chromosomal disorders |
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| Regional differences in the frequency of the c.<scp>985A</scp>>G <scp>ACADM</scp> mutation: findings from a meta‐regression of genotyping and screening studies |
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✓ |
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Western Europe; Southern and Eastern European regions; Eastern European regions |
| <i>NPHP4</i> mutation is linked to cerebello‐oculo‐renal syndrome and male infertility |
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| Disfluency: it is not always stuttering |
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| Human facial dysostoses |
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| Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis |
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| Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms |
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| Response to Simsek et al. |
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| Beckwith–Wiedemann syndrome: first epigenetic confirmed case report in China |
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| Novel <i><scp>BCOR</scp></i> mutations in patients with oculofaciocardiodental (OFCD) syndrome |
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| Response to Zizzo et al. |
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| Molecular and clinical characterization of Angelman syndrome in Chinese patients |
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✓ |
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✓ |
✓ |
Chinese; Japanese |
| Of mice, men, and King Tut: autosomal recessive Klippel–Feil syndrome is caused by mutations in <i><scp>MEOX1</scp></i> |
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| Exome sequencing reveals a novel <i><scp>ANO10</scp></i> mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia |
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| Gonadal mosaicism as a rare cause of autosomal recessive inheritance |
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| A novel mutation in <i>GJA1</i> causing oculodentodigital syndrome and primary lymphoedema in a three generation family |
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| Detection of novel genetic variation in autosomal dominant retinitis pigmentosa |
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| Identification of a founder <i><scp>EPCAM</scp></i> deletion in Spanish Lynch syndrome families |
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| 190‐kb duplication in 1p36.11 including <i><scp>PIGV</scp></i> and <i><scp>ARID1A</scp></i> genes in a girl with intellectual disability and hexadactyly |
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| A novel frameshift mutation of <i>C19ORF12</i> causes <scp>NBIA4</scp> with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy |
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| Familial clustering and genetic heterogeneity in Meniere's disease |
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✓ |
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in European population |
| A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier |
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| Rates of risk‐reducing surgery in Israeli <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> mutation carriers |
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| Genome‐wide androgenetic mosaicism |
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| Living with inborn errors of cholesterol biosynthesis: lessons from adult patients |
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| Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability |
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| Identification of two novel splice‐site mutations in <scp>CHD7</scp> gene in two patients with classical and atypical <scp>CHARGE</scp> syndrome phenotype |
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| <i><scp>RSK2</scp></i> mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family |
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| The Cuban program for predictive testing of <scp>SCA2</scp>: 11 years and 768 individuals to learn from |
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| Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth |
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| Polymicrogyria with dysmorphic basal ganglia? Think tubulin! |
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| Molecular characterization of 39 <i>de novo</i><scp>sSMC</scp>: contribution to prognosis and genetic counselling, a prospective study |
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| Exome sequencing detection of two untranslated <i><scp>GFPT1</scp></i> mutations in a family with limb‐girdle myasthenia |
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| Opsismodysplasia: implications of mutations in the developmental gene <i>INPPL1</i> |
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| The spectrum of <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> mutations in breast cancer patients in the Bahamas |
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| Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience |
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| The <scp>L444P</scp><i><scp>GBA</scp></i> mutation is associated with early‐onset Parkinson's disease in Mexican Mestizos |
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✓ |
|
Mexican Mestizos |
| Loss‐of‐function mutations in <i><scp>CCDC114</scp></i> cause primary ciliary dyskinesia |
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| Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia |
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| Doing the right thing for one's children: deciding whether to take the genetic test for Huntington's disease as a moral dilemma |
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| Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in <i>BRCA1</i> and <i>BRCA2</i> carriers |
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| Autism spectrum disorder in the genetics clinic: a review |
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| Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis |
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| Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype |
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| Novel mutations of the <i><scp>PRKAR1A</scp></i> gene in patients with acrodysostosis |
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| In relation to the article “Skirting the pitfalls: a clear‐cut nomenclature for H3K4 methyltransferases” by Bögerhausen et al. |
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| Changes in screening behaviors and attitudes toward screening from pre‐test genetic counseling to post‐disclosure in Lynch syndrome families |
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| Response to Diaz |
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| High prevalence of genetic variants previously associated with Brugada syndrome in new exome data |
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| Epigenetic changes in diabetes |
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| Geographical distribution of Slovenian <scp>BRCA1</scp>/2 families according to family origin: implications for genetic screening |
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|
✓ |
✓ |
"Slovenian" (family origin) and the phrase "ethnic and geographic heterogeneity" |
| Clinical features of Chinese patients with Huntington's disease carrying <scp>CAG</scp> repeats beyond 60 within <i><scp>HTT</scp></i> gene |
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| Mosaicism in von Hippel–Lindau disease with severe renal manifestations |
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| Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype |
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✓ |
✓ |
Lebanese |
| Deletion of <i>MAP2K2/MEK2</i>: a novel mechanism for a RASopathy? |
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| An emerging role for Wnt and <scp>GSK3</scp> signaling pathways in schizophrenia |
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| Clinical and genetic heterogeneity of amyotrophic lateral sclerosis |
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| Prevalence and risk of migraine headaches in adult fragile X premutation carriers |
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| Analysis of<scp>CAG</scp>repeats in five<scp>SCA</scp>loci in Mexican population: epidemiological evidence of a<scp>SCA7</scp>founder effect |
|
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|
✓ |
✓ |
Mexican population; different ethnicities; five different communities of Veracruz |
| <i>PLP1</i> gene analysis in 88 patients with leukodystrophy |
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| Chromosomal microarray impacts clinical management |
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| <i><scp>TREM2</scp></i>: a new risk factor for Alzheimer's disease |
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| Early development and regression in Rett syndrome |
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| Dysfunction of <i><scp>SHANK2</scp></i> and <i><scp>CHRNA7</scp></i> in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci |
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| The uptake and outcome of prenatal and pre‐implantation genetic diagnosis for Huntington's disease in the Netherlands (1998–2008) |
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| Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008 |
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| <i><scp>SLC26A4</scp></i> mutation frequency and spectrum in 109 Danish Pendred syndrome/<scp>DFNB4</scp> probands and a report of nine novel mutations |
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| Estrogen receptor mutation in a girl with primary amenorrhea |
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| Aberrant <scp>TGF</scp>‐β signaling underlies the pathogenesis of aortic aneurysm in Shprintzen‐Goldberg syndrome |
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| Mutations in <scp>CIB2</scp> calcium and integrin‐binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type <scp>1J</scp> and non‐syndromic deafness <i><scp>DFNB48</scp></i |
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| <i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study |
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| Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum |
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| Huntington disease in 2013 – genetic choices across the life cycle |
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| Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia |
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| Variants of uncertain significance in <i><scp>BRCA</scp></i> testing: evaluation of surgical decisions, risk perception, and cancer distress |
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| <i><scp>KCNT1</scp></i> mutations in <scp>ADNFLE</scp> and <scp>MMPSI</scp>: a new driver in the etiology and pathophysiology of early‐onset epileptic syndromes |
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| Prevalence of <i>GNE</i> p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran |
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✓ |
✓ |
‘Iranian and Middle‐Eastern descent’, ‘Persian‐Jewish community’, ‘Sangesar population’, ‘Muslim and |
| A population‐based study of hereditary non‐polyposis colorectal cancer: evidence of pathologic and genetic heterogeneity |
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| Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families |
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| Rapid disease progression in adult‐onset mitochondrial membrane protein‐associated neurodegeneration |
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| Identification of seven novel <i><scp>SMPD1</scp></i> mutations causing Niemann–Pick disease types A and B |
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| A centralized approach to out‐of‐province genetic testing leads to cost savings: the Alberta experience |
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| Special new feature in <i>Clinical Genetics</i> |
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| <i><scp>PTEN</scp></i> mosaicism with features of Cowden syndrome |
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| Myoclonus‐dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7 |
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| The genetics of type 2 diabetes and its clinical relevance |
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| Building a brain in the gut: development of the enteric nervous system |
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| Skirting the pitfalls: a clear‐cut nomenclature for <scp>H3K4</scp> methyltransferases |
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| Unmasking Kabuki syndrome |
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| Novel <i><scp>NMNAT1</scp></i> mutations causing Leber congenital amaurosis identified |
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| <i><scp>FANCA</scp></i> and <i><scp>FANCG</scp></i> are the major Fanconi anemia genes in the Korean population |
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✓ |
✓ |
Korean, Japanese, East Asian |
| <i><scp>HINT1</scp></i> mutations define a novel disease entity – autosomal recessive axonal neuropathy with neuromyotonia |
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| Mutations in <i><scp>ATP1A3</scp></i> cause alternating hemiplegia of childhood |
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| The developmental genetics of Hirschsprung's disease |
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| Integrating next‐generation sequencing into the diagnostic testing of inherited cancer predisposition |
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| Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families |
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| Successful long‐term enzyme replacement therapy in a young adult with Fabry disease |
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| Monozygotic twins discordant for port wine stains support the post‐zygotic mutation hypothesis |
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| Exome sequencing overrides formal genetics: <i><scp>ASPM</scp></i> mutations in a case study of apparent X‐linked microcephalic intellectual deficit |
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| An unanticipated copy number variant of chromosome 15 disrupting <i><scp>SMAD3</scp></i> reveals a three‐generation family at serious risk for aortic dissection |
|
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| X‐linked <scp>CHARGE</scp>‐like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from <i>TBX22</i> splicing mutations |
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| Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients |
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| Phenotypic heterogeneity and full penetrance in a family with dopa‐responsive dystonia |
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| Large deletions and splicing‐site mutations in the <scp>STK11</scp> gene in Peutz‐Jeghers Chilean families |
|
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| Identification of single gene deletions at 15q13.3: further evidence that <i><scp>CHRNA7</scp></i> causes the 15q13.3 microdeletion syndrome phenotype |
|
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| Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia |
|
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| Mutational analysis of <i><scp>PMP22</scp></i>, <i><scp>EGR2</scp></i>, <i><scp>LITAF</scp></i> and <i><scp>NEFL</scp></i> in Greek Charcot–Marie–Tooth type 1 patients |
|
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|
✓ |
|
Greek |
| Impact of gynecological screening in Lynch syndrome carriers with an <i>MSH2</i> mutation |
|
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| Germline <i>RAD51C</i> mutations in ovarian cancer susceptibility |
|
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|
|
✓ |
|
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French or European origin |
| The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in <scp>TMEM43</scp> |
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| Clinical spectrum of <scp>MEN2A</scp> in a large family caused by the infrequent <i><scp>RET</scp></i> mutation <scp>Cys609Phe</scp> |
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| Identification of a novel <scp><i>KCNQ1</i></scp> mutation in a large Saudi family with long <scp>QT</scp> syndrome: clinical consequences and preventive implications |
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| Estimating survival rates after ovarian cancer among women tested for <scp>BRCA1</scp> and <scp>BRCA2</scp> mutations |
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| Mutation analysis of the <i><scp>STRA6</scp></i> gene in isolated and non‐isolated anophthalmia/microphthalmia |
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| Craniofacial variations in the tricho‐dento‐osseous syndrome |
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| Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the <scp>WTX</scp> locus |
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| Corticobasal and ataxia syndromes widen the spectrum of <i>C9ORF72</i> hexanucleotide expansion disease |
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| Recommendations for the predictive genetic test in Huntington's disease |
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| New <i>CBP</i> mutations in Brazilian patients with Rubinstein–Taybi syndrome |
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| Recurrent and founder mutations in the <i><scp>PMS2</scp></i> gene |
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✓ |
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mixed European background |
| <i>SPG7</i> mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V |
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| The fragile X‐associated tremor ataxia syndrome (<scp>FXTAS</scp>) in Indonesia |
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| Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family |
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Chinese |
| Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome |
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| Homozygous and compound heterozygous mutations in the <i>ATP6V1B1</i> gene in patients with renal tubular acidosis and sensorineural hearing loss |
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| Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management |
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| Novel <i>WDR35</i> mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome) |
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| Modification of risk for cancer as a coincidental finding in DNA array investigation |
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| Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development |
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| MODY type 2 P59S GCK mutant: founder effect in South of Italy |
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| Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome |
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| Age‐specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway |
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| Double heterozygous mutations of <i>MITF</i> and <i>PAX3</i> result in Waardenburg syndrome with increased penetrance in pigmentary defects |
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| Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? |
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| High frequency of <i>GJA12</i>/<i>GJC2</i> mutations in Turkish patients with Pelizaeus–Merzbacher disease |
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| A novel deletion partly removing the <i>AVP</i> gene causes autosomal recessive inheritance of early‐onset neurohypophyseal diabetes insipidus |
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