| Issue Information ‐ Editorial Board |
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| <i>Clinical Genetics</i> in the age of Genomics and Genome editing |
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| Liver anomalies as a phenotype parameter of Bardet–Biedl syndrome |
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| <scp>JP–HHT</scp> phenotype in Danish patients with <i><scp>SMAD4</scp></i> mutations |
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| A novel<i><scp>CHST3</scp></i>allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred |
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| Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations? |
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| Genetic causes of MCPH in consanguineous Pakistani families |
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| Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader–Willi syndrome due to UPD(15)mat |
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Japanese general population |
| Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark |
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| Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management |
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| Response to Evans et al. |
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| Genomic copy number alterations in non‐syndromic hearing loss |
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| Mutations in <i><scp>SEC24D</scp></i> cause autosomal recessive osteogenesis imperfecta |
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| Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in <i><scp>STXBP2</scp></i> |
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| Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics |
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| <i>DLL4</i> loss‐of‐function heterozygous mutations cause Adams–Oliver syndrome |
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| <i><scp>PDGFRB</scp></i> mutation causes autosomal‐dominant Penttinen syndrome |
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| Fetal phenotypes in otopalatodigital spectrum disorders |
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| <i>IRF6</i> mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families |
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| A Mayan founder mutation is a common cause of deafness in Guatemala |
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Native American, European, and African populations |
| Comprehensive genetic testing with ethnic‐specific filtering by allele frequency in a Japanese hearing‐loss population |
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ethnic-specific, Japanese, non-Japanese ethnicities, in-house database of 200 normal-hearing Japanes |
| Mutation spectrum of the <i>MTM1</i> gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis |
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| Gastrointestinal involvement in Fabry disease. So important, yet often neglected |
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| Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population |
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Canadian aboriginal population |
| <i>COX6A1</i> mutation causes axonal hereditary motor and sensory neuropathy – the confirmation of the primary report |
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| Antibody deficiency in Rubinstein‐Taybi syndrome |
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| Functional characterization of two new STAT3 mutations associated with hyper‐IgE syndrome in a Mexican cohort |
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Mexican |
| Non‐truncating <scp>LIFR</scp> mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction? |
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| A large multiexonic genomic deletion within the <i><scp>ALMS1</scp></i> gene causes Alström syndrome in a consanguineous Pakistani family |
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| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care |
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| Sclerosteosis caused by a novel nonsense mutation of <scp>SOST</scp> in a consanguineous family |
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| Genetic evaluation of patients with Alström syndrome in the Polish population |
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Polish origin; Polish individuals |
| Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch‐like syndrome |
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| Genomic study of congenital insensitivity to pain provides new avenues for the development of analgesics |
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| Whole‐genome sequencing provides insight into the genetics of major depressive disorder |
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| <i><scp>NAPB</scp></i> – a novel <scp>SNARE</scp>‐associated protein for early‐onset epileptic encephalopathy |
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Irish Traveller descent |
| Genetic testing for <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> in the Province of Ontario |
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| Neurological and endocrine phenotypes of fragile X carrier women |
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| Alpha‐mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function |
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| Confirmation of <i>TTC8</i> as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51) |
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ethnically matched controls from same population |
| Sixteenth‐century German woodcut of a male infant with possible disorganization |
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| Genomic futures of prenatal screening: ethical reflection |
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| Genetic aspects of Huntington's disease in Latin America. A systematic review |
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Europeans; European descent |
| Fragile‐X syndrome – a 20‐year follow‐up study of male patients |
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| High‐resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X‐linked blue cone monochromacy |
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| Biallelic <i><scp>HERC1</scp></i> mutations in a syndromic form of overgrowth and intellectual disability |
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| (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine |
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| Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome |
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| <i><scp>SLC1A4</scp></i> mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum |
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Ashkenazi; Ashkenazi-Iraqi; Jewish Ashkenazi |
| A novel microdeletion affecting the <i>CETP</i> gene raises HDL‐associated cholesterol levels |
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| Growth in neurofibromatosis 1 microdeletion patients |
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| Hearing loss in Waardenburg syndrome: a systematic review |
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| Comprehensive review of <i><scp>BAP1</scp></i> tumor predisposition syndrome with report of two new cases |
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| Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations |
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| Are physicians prepared for whole genome sequencing? a qualitative analysis |
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| Uptake of health monitoring and disease self‐management in Australian adults with neurofibromatosis type 1: strategies to improve care |
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| Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes |
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Danish |
| Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum |
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| Neurofibromatosis type 1 and malignancy in childhood |
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| Something old, something new: <i>TBK1</i>, a novel gene in known amyotrophic lateral sclerosis pathways |
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| Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life |
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| Clinical applications of next‐generation sequencing‐based gene panel in patients with muscular dystrophy: Korean experience |
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| Measuring genetic knowledge: a brief survey instrument for adolescents and adults |
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| Comorbidity in the Tunisian population |
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| <i><scp>ALMS1</scp></i> null mutations: a common cause of Leber congenital amaurosis and early‐onset severe cone–rod dystrophy |
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Chinese |
| Cranio‐facial clefts in pre‐hispanic America |
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| Frequent incidence of <i><scp>BARD1</scp></i>‐truncating mutations in germline <scp>DNA</scp> from triple‐negative breast cancer patients |
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| Maintaining the balance: both gain‐ and loss‐of‐function <i><scp>KCNA2</scp></i> mutants cause epileptic encephalopathy |
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| Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome |
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| X‐chromosome inactivation in female patients with Fabry disease |
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| Regulator of dendritic cell migration, <scp>ASAP1</scp> is associated with increased susceptibility to tuberculosis |
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| Warfarin pharmacogenetics in the era of new oral anticoagulants |
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| Mutations in <i><scp>SLC6A17</scp></i> cause autosomal‐recessive intellectual disability |
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| Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in <i><scp>ACVRL1</scp></i> |
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Norwegian |
| Novel homozygous <i>ALX4</i> mutation causing frontonasal dysplasia‐2 in a patient with meningoencephalocele |
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| Toward an in‐depth profiling of <scp>DTC</scp> users |
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| Mutations in <i><scp>RIT1</scp></i> cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype |
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| Molecular basis of inherited thrombocytopenias |
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| <scp>CRISPR</scp> screen: a high‐throughput approach for cancer genetic research |
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| Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs |
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| A homozygous mutation in <i><scp>SLC1A4</scp></i> in siblings with severe intellectual disability and microcephaly |
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Ashkenazi Jewish ancestry |
| Diagnosis and treatment of inherited thrombocytopenias |
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| The risk of contralateral breast cancer in daughters of women with and without breast cancer |
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| Prevalence of founder mutations in the <scp>BRCA1</scp> and <scp>BRCA2</scp> genes among unaffected women from the Bahamas |
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| Clinical presentations of 23 half‐siblings from a mosaic neurofibromatosis type 1 sperm donor |
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| Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age |
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| Clinical implementation of <scp>NIPT</scp> – technical and biological challenges |
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| A review of craniofacial disorders caused by spliceosomal defects |
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| Spinal neurofibromatosis and phenotypic heterogeneity in NF1 |
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| Fabry disease in a geriatric population |
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| Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients |
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| Evaluating stakeholder's perspective on referred out genetic testing in Canada: a discrete choice experiment |
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| Diagnostic pitfall in antenatal manifestations of<scp>CPT II</scp>deficiency |
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| Additional evidence that <i><scp>PGAP1</scp></i> loss of function causes autosomal recessive global developmental delay and encephalopathy |
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| Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline <i><scp>SDHB</scp></i> exon 3 deletion |
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Dutch; Netherlands |
| Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations – different outcome? |
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| Delineation of clinical features in Wiedemann–Steiner syndrome caused by <i><scp>KMT2A</scp></i> mutations |
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| Response to Dylan Mordaunt and Alisha McLauchlan |
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| New insights into Brunner syndrome and potential for targeted therapy |
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| Extreme variability in clinical penetrance for a splice‐site <i>Plakophilin‐2</i> mutation in a Bangladeshi family |
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| HDAC8‐deficiency causes an X‐linked dominant disorder with a wide range of severity |
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| Origin of <i><scp>MLH1</scp></i>, <i><scp>MSH2</scp></i>, <i><scp>MSH6</scp></i> and <i>PMS2</i> mutations can help inform long‐term care strategies for patients with colorectal and endometrial cancer |
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| Establishing cancer risks associated with <i><scp>PMS2</scp></i> germline mutations in Lynch syndrome |
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| The implications of <i>de novo</i> coding mutations in simplex autism families |
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| Lynch syndrome: five unanswered questions |
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| The <scp>SickKids</scp> Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine |
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| Gene therapy for primary immunodeficiencies |
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| Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction |
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| Utility of next‐generation sequencing technologies for the efficient genetic resolution of haematological disorders |
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| Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis |
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| Dysmorphology services: a snapshot of current practices and a vision for the future |
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| Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin |
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| Epidemiology of Huntington disease: first post‐<scp><i>HTT</i></scp> gene analysis of prevalence in Italy |
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| Phenotype analysis impacts testing strategy in patients with Currarino syndrome |
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| Xq25 duplication: the crucial role of the <i><scp>STAG2</scp></i> gene in this novel human cohesinopathy |
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| Practical considerations in the clinical application of whole‐exome sequencing |
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| Ethical considerations of population screening for late‐onset genetic disease |
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| Mutations in <scp>FLVCR2</scp> associated with Fowler syndrome and survival beyond infancy |
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| Malignancy in Noonan syndrome and related disorders |
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| Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey |
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| Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype |
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| Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from <i><scp>BRCA</scp></i> testing |
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patient ancestry |
| X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria |
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| Adult‐onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, <i><scp>EIF2B4</scp></i> |
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| Clinical Exome/Genome Reports‐Announcement |
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| Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes |
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| LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues |
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| Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma |
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| Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel <i>de novo</i> p.(<scp>Leu1877Pro</scp>) mutation in <i><scp>MYH2</scp></i> |
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| Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life |
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| Compound heterozygous mutations in <scp>TTC7A</scp> cause familial multiple intestinal atresias and severe combined immunodeficiency |
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| Genetic counselors' (<scp>GC</scp>) knowledge, awareness, understanding of clinical next‐generation sequencing (<scp>NGS</scp>) genomic testing |
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| <scp>mtDNA</scp> mutations variously impact <scp>mtDNA</scp> maintenance throughout the human embryofetal development |
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| A founder <i>EIF2AK4</i> mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies |
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Iberian Gypsies |
| Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies |
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| Ataxia and myoclonic epilepsy due to a heterozygous new mutation in <i><scp>KCNA2</scp></i>: proposal for a new channelopathy |
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| Genetic testing for <i>RAD51C</i> mutations: in the clinic and community |
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| Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects |
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| The clinical utility of whole‐exome sequencing in the context of rare diseases – the changing tides of medical practice |
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| Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole‐exome sequencing |
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| Pancreatic cancer genomics: where can the science take us? |
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| Intrafamilial variability of <i><scp>ZRS</scp></i>‐associated syndrome: characterization of a mosaic <i><scp>ZRS</scp></i> mutation by pyrosequencing |
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