| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| The alternatively spliced exon of <i><scp>COL5A1</scp></i> is mutated in autosomal recessive classical Ehlers‐Danlos syndrome |
|
|
|
|
|
|
|
|
|
| Two patients with <i><scp>PNKP</scp></i> mutations presenting with microcephaly, seizure, and oculomotor apraxia |
|
|
|
|
|
|
|
|
|
| A <i>de novo</i> loss‐of‐function <i>DYNC1H1</i> mutation in a patient with parkinsonian features and a favourable response to levodopa |
|
|
|
|
|
|
|
|
|
| A novel germline mutation in <i><scp>CDK4</scp></i> codon 24 associated to familial melanoma |
|
|
|
|
|
|
|
|
|
| Small patella syndrome: New clinical and molecular insights into a consistent phenotype |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? |
|
|
|
|
|
|
|
|
|
| Biallelic mutations in <i>FLNB</i> cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin |
|
|
|
|
|
|
|
|
|
| New evidence for association of recessive <scp>IARS</scp> gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation |
|
|
|
|
|
|
|
|
|
| Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Identification of the first homozygous 1‐bp deletion in <i>GDF9</i> gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing |
|
|
|
|
|
|
|
|
|
| Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Response to Ciuculete et al |
|
|
|
|
|
|
|
|
|
| Response to Lefebvre et al |
|
|
|
|
|
|
|
|
|
| Response to Leusink et al |
|
|
|
|
|
|
|
|
|
| WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI) |
|
✓ |
|
|
|
|
|
|
|
| A novel missense mutation affecting the same amino acid as the recurrent <i><scp>PACS1</scp></i> mutation in Schuurs‐Hoeijmakers syndrome |
|
|
|
|
|
|
|
|
|
| Autism spectrum disorder recurrence, resulting of germline mosaicism for a <i><scp>CHD2</scp></i> gene missense variant |
|
|
|
|
|
|
|
|
|
| Genomic disorders 20 years on—mechanisms for clinical manifestations |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype of <i><scp>DNAJC3</scp></i> mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration |
|
|
|
|
|
|
|
|
|
| Novel 9 amino acid in‐frame deletion in the <i><scp>NTRK1</scp></i> tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis |
|
|
|
|
|
|
|
|
|
| Recessive mutations in <i><scp>NDUFA2</scp></i> cause mitochondrial leukoencephalopathy |
|
|
|
|
|
|
|
|
|
| Development and validation of a severity scoring system for Zellweger spectrum disorders |
|
|
|
|
|
|
|
|
|
| Corrigendum |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Bone marrow failure syndrome caused by homozygous frameshift mutation in the <i><scp>ERCC6L2</scp></i> gene |
|
|
|
|
|
|
|
|
|
| Bone health and <i><scp>SATB2</scp></i>‐associated syndrome |
|
|
|
|
|
|
|
|
|
| Homozygous nonsense mutation in <scp>SCHIP1</scp>/<scp>IQCJ‐SCHIP1</scp> causes a neurodevelopmental brain malformation syndrome |
|
|
|
|
|
|
✓ |
✓ |
Arab |
| Diagnosis of monogenic liver diseases in childhood by next‐generation sequencing |
|
|
|
|
|
|
|
|
|
| A case of atypical Kabuki syndrome arising from a novel missense variant in <i><scp>HNRNPK</scp></i> |
|
|
|
|
|
|
|
|
|
| Mechanisms of Mendelian dominance |
|
|
|
|
|
|
|
|
|
| Mosaic intragenic deletion of <i><scp>FBN2</scp></i> and severe congenital contractural arachnodactyly |
|
|
|
|
|
|
|
|
|
| Unilateral vestibular schwannoma and meningiomas in a patient with <i><scp>PIK3CA</scp></i>‐related segmental overgrowth: Co‐occurrence of mosaicism for 2 rare disorders |
|
|
|
|
|
|
|
|
|
| Association of combined <i>GIF290T>C</i> heterozygous mutation/<i>FUT2</i> secretor variant with neural tube defects |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Novel non‐neutral mitochondrial <scp>DNA</scp> mutations found in childhood acute lymphoblastic leukemia |
|
|
|
|
|
|
|
|
|
| Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients |
|
|
|
|
|
|
|
|
|
| Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families |
|
|
|
|
|
|
|
|
|
| The impact of epigenomic next‐generation sequencing approaches on our understanding of neuropsychiatric disorders |
|
|
|
|
|
|
|
|
|
| Clinical experience with a single‐nucleotide polymorphism‐based non‐invasive prenatal test for five clinically significant microdeletions |
|
|
|
|
|
|
|
|
|
| Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy |
|
|
|
|
|
|
|
|
|
| Phenotypic spectrum associated with de novo mutations in <i><scp>QRICH1</scp></i> gene |
|
|
|
|
|
|
|
|
|
| Homozygosity for a missense variant in <i><scp>COMP</scp></i> gene associated with severe pseudoachondroplasia |
|
|
|
|
|
|
|
|
|
| Genetic characterization of <scp>GSD</scp> I in Serbian population revealed unexpectedly high incidence of <scp>GSD</scp> Ib and 3 novel <i><scp>SLC37A4</scp></i> variants |
|
|
|
|
|
|
✓ |
✓ |
Serbian population |
| Integrated analysis of <scp>SNP</scp>, <scp>CNV</scp> and gene expression data in genetic association studies |
|
|
|
|
|
|
|
|
|
| Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function |
|
|
|
|
|
|
|
|
|
| Phenotypic spectrum of mutations in <i><scp>IBA57</scp></i>, a candidate gene for cavitating leukoencephalopathy |
|
|
|
|
|
|
|
|
|
| <i><scp>NDUFA9</scp></i> point mutations cause a variable mitochondrial complex I assembly defect |
|
|
|
|
|
|
|
|
|
| Protein misfolding diseases: Prospects of pharmacological treatment |
|
|
|
|
|
|
|
|
|
| Extension of the phenotype of biallelic loss‐of‐function mutations in <scp>SLC25A46</scp> to the severe form of pontocerebellar hypoplasia type I |
|
|
|
|
|
|
|
|
|
| Next generation phenotyping in Emanuel and Pallister‐Killian syndrome using computer‐aided facial dysmorphology analysis of <scp>2D</scp> photos |
|
|
|
|
|
|
|
|
|
| A homozygous <scp>I684T</scp> in <scp>GLE1</scp> as a novel cause of arthrogryposis and motor neuron loss |
|
|
|
|
|
|
|
|
|
| A 37‐year‐old Menkes disease patient—Residual <scp>ATP7A</scp> activity and early copper administration as key factors in beneficial treatment |
|
|
|
|
|
|
|
|
|
| A novel <i><scp>PAX1</scp></i> null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency |
|
|
|
|
|
|
|
|
|
| Functional analysis of p.Ala253_Leu254insAsn mutation in <i><scp>PLS3</scp></i> responsible for X‐linked osteoporosis |
|
|
|
|
|
|
|
|
|
| Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon |
|
|
|
|
|
|
|
|
|
| A genetic epidemiology study of congenital adrenal hyperplasia in Italy |
|
|
|
|
|
|
✓ |
✓ |
Italian; Sardinia; mainland Italy |
| Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch syndrome carriers: Randomized controlled trial |
|
|
|
|
|
|
|
|
|
| Frequent <i><scp>COL4</scp></i> mutations in familial microhematuria accompanied by later‐onset Alport nephropathy due to focal segmental glomerulosclerosis |
|
|
|
|
|
|
|
|
|
| Further delineation of the phenotype caused by biallelic variants in the <i><scp>WDR4</scp></i> gene |
|
|
|
|
|
|
|
|
|
| Fragile X syndrome: An overview and update of the <i><scp>FMR1</scp></i> gene |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Genetic study of early‐onset Graves’ disease in the Chinese Han population |
|
|
|
|
|
|
✓ |
✓ |
Chinese Han population |
| Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease |
|
|
|
|
|
|
✓ |
✓ |
Chinese; Chinese population; Europe; Japan |
| Genetic epidemiology of familial Mediterranean fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa |
|
|
|
|
|
|
|
|
|
| Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients |
|
|
|
|
|
|
|
|
|
| Novel biallelic mutations in the <i><scp>PNPT1</scp></i> gene encoding a mitochondrial‐<scp>RNA</scp>‐import protein <scp>PNPase</scp> cause delayed myelination |
|
|
|
|
|
|
|
|
|
| Performance of <i><scp>BRCA1</scp>/</i>2 mutation prediction models in male breast cancer patients |
|
|
|
|
|
|
|
|
|
| Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation |
|
|
|
|
|
|
|
|
|
| Identification of novel <i><scp>BCL11A</scp></i> variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Diagnostic application of a capture based <scp>NGS</scp> test for the concurrent detection of variants in sequence and copy number as well as <scp>LOH</scp> |
|
|
|
|
|
|
|
|
|
| Novel biallelic <i><scp>SZT2</scp></i> mutations in 3 cases of early‐onset epileptic encephalopathy |
|
|
|
|
|
|
|
|
|
| Novel <i><scp>COL4A2</scp></i> variant in a large pedigree: Consequences and dilemmas |
|
|
|
|
|
|
|
|
|
| Disruption of <i><scp>YWHAE</scp></i> gene at 17p13.3 causes learning disabilities and brain abnormalities |
|
|
|
|
|
|
|
|
|
| On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation |
|
|
|
|
|
|
|
|
|
| Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome |
|
|
|
|
|
|
|
|
|
| A familial study of twins with severe asthenozoospermia identified a homozygous <i><scp>SPAG17</scp></i> mutation by whole‐exome sequencing |
|
|
|
|
|
|
|
|
|
| A homozygous potentially pathogenic variant in the <i><scp>PAXBP1</scp></i> gene in a large family with global developmental delay and myopathic hypotonia |
|
|
|
|
|
|
|
|
|
| Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and <i><scp>KMT2D</scp></i> mutations |
|
|
|
|
|
|
|
|
|
| Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? |
|
|
|
|
|
|
|
|
|
| <i><scp>WDR45B</scp></i>‐related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome |
|
|
|
|
|
|
|
|
|
| The penetrance of paraganglioma and pheochromocytoma in <i><scp>SDHB</scp></i> germline mutation carriers |
|
|
|
|
|
|
|
|
|
| Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients |
|
|
|
|
|
|
|
|
|
| Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta‐analysis |
|
|
|
|
|
|
|
|
|
| A de novo missense mutation in <i><scp>SLC12A5</scp></i> found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures |
|
|
|
|
|
|
|
|
|
| <i><scp>ARL6IP1</scp></i> mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia |
|
|
|
|
|
|
|
|
|
| New mutations in <scp>GJA8</scp> expand the phenotype to include total sclerocornea |
|
|
|
|
|
|
|
|
|
| Multiple spinal nerve enlargement and <i><scp>SOS1</scp></i> mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype |
|
|
|
|
|
|
|
|
|
| The association of severe encephalopathy and question mark ear is highly suggestive of loss of <i><scp>MEF2C</scp></i> function |
|
|
|
|
|
|
|
|
|
| Metformin as targeted treatment in fragile X syndrome |
|
|
|
|
|
|
|
|
|
| A novel <i><scp>TRPA1</scp></i> variant is associated with carbamazepine‐responsive cramp‐fasciculation syndrome |
|
|
|
|
|
|
|
|
|
| Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| <i><scp>PDX1</scp></i>‐<scp>MODY</scp> and dorsal pancreatic agenesis: New phenotype of a rare disease |
|
|
|
|
|
|
|
|
|
| <i><scp>WNK1</scp>/<scp>HSN2</scp></i> founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study |
|
|
|
|
|
|
✓ |
✓ |
Japanese; French Canadian |
| Deleterious protein‐altering mutations in the <i><scp>SCN10A</scp></i> voltage‐gated sodium channel gene are associated with prolonged <scp>QT</scp> |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Two novel <i><scp>MYLK</scp></i> nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history |
|
|
|
|
|
|
|
|
|
| High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing |
|
|
|
|
|
|
|
|
|
| Patient understanding of genetic information influences reproductive decision making in retinoblastoma |
|
|
|
|
|
|
|
|
|
| <i><scp>PGAP3</scp></i>‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation |
|
|
|
|
|
|
|
|
|
| Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in <i><scp>STAG3</scp></i> that causes primary ovarian insufficiency |
|
|
|
|
|
|
✓ |
✓ |
Han Chinese |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with <i><scp>TAB2</scp></i> mutations |
|
|
|
|
|
|
|
|
|
| Comprehensive molecular screening strategy of <i><scp>OCLN</scp></i> in band‐like calcification with simplified gyration and polymicrogyria |
|
|
|
|
|
|
|
|
|
| Clinical spectrum of Kabuki‐like syndrome caused by <i><scp>HNRNPK</scp></i> haploinsufficiency |
|
|
|
|
|
|
|
|
|
| Genetics of hypertrophic cardiomyopathy: A review of current state |
|
|
|
|
|
|
|
|
|
| Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants |
|
|
|
|
|
|
|
|
|
| Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases |
|
|
|
|
|
|
|
|
|
| Study of the Huntington's disease <i><scp>IT</scp>‐15</i> gene in different ethnic groups in Ecuador |
|
|
|
|
|
✓ |
|
|
European ascendants (0.145) |
| New <i><scp>EPCAM</scp></i> founder deletion in Polish population |
|
|
|
|
|
|
✓ |
✓ |
Polish population; Poland |
| A novel mutation in <i>SLC25A46</i> causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy |
|
|
|
|
|
|
|
|
|
| Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum |
|
|
|
|
|
|
|
|
|
| Genome‐wide linkage and sequence analysis challenge <i><scp>CCDC66</scp></i> as a human retinal dystrophy candidate gene and support a distinct <i><scp>NMNAT1</scp></i>‐related fundus phenotype |
|
|
|
|
|
|
✓ |
✓ |
endogamous Arab family |
| Clinical genetic testing in pediatric cardiomyopathy: Is bigger better? |
|
|
|
|
|
|
|
|
|
| Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in <i><scp>MMP9</scp></i> identified by exome sequencing |
|
|
|
|
|
|
✓ |
✓ |
Jewish‐Caucasus ancestry |
| Novel non‐contiguous exon duplication in choroideremia |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of <i><scp>PAX6</scp></i> mutations |
|
|
|
|
|
|
|
|
|
| Mutations in <i><scp>ERGIC1</scp></i> cause Arthrogryposis multiplex congenita, neuropathic type |
|
|
|
|
|
|
✓ |
✓ |
Israeli Arab kindred; Israeli Arab population |
| A duplication in a patient with 46,<scp>XX</scp> ovo‐testicular disorder of sex development refines the <i><scp>SOX9</scp></i> testis‐specific regulatory region to 24 kb |
|
|
|
|
|
|
|
|
|
| Deletion of the transcription factor <i><scp>SOX4</scp></i> is implicated in syndromic nephroblastoma |
|
|
|
|
|
|
|
|
|
| <scp>PLA2G6</scp> mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia |
|
|
|
|
|
|
✓ |
✓ |
mentions families 'from Turkey, Morocco, and Romania'; uses 'Turkish siblings', 'Moroccan patient', |
| Constitutional <i><scp>LZTR1</scp></i> mutation presenting with a unilateral vestibular schwannoma in a teenager |
|
|
|
|
|
|
|
|
|
| The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis |
|
|
|
|
|
|
|
|
|
| Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French <i><scp>FH</scp></i> mutation carriers |
|
|
|
|
|
|
|
|
|
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes |
|
|
|
|
|
|
|
|
|
| A nonsense mutation in <i><scp>CEP55</scp></i> defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy |
|
|
|
|
|
|
|
|
|
| The mutation p.<scp>D313Y</scp> is associated with organ manifestation in Fabry disease |
|
|
|
|
|
|
|
|
|
| Second family provides further evidence for causation of Steel syndrome by biallelic mutations in <i><scp>COL27A1</scp></i> |
|
|
|
|
|
|
✓ |
✓ |
Puerto Rican; non‑Puerto Rican population |
| Phenotypes and cellular effects of <i><scp>GJB1</scp></i> mutations causing <scp>CMT1X</scp> in a cohort of 226 Chinese <scp>CMT</scp> families |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| <i>SNORD116</i> deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly |
|
|
|
|
|
|
|
|
|
| Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency |
|
|
|
|
|
|
|
|
|
| Tyrosinemia type <scp>II</scp>: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation |
|
|
|
|
|
|
|
|
|
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Clinical and mutational spectrum of Japanese patients with Charcot‐Marie‐Tooth disease caused by <i><scp>GDAP1</scp></i> variants |
|
|
|
|
|
|
|
|
|
| <scp>GLI3</scp>‐related polydactyly: a review |
|
|
|
|
|
|
|
|
|
| A novel <i><scp>DNAJB6</scp></i> mutation causes dominantly inherited distal‐onset myopathy and compromises <scp>DNAJB6</scp> function |
|
|
|
|
|
|
|
|
|
| Confirming the recessive inheritance of <i><scp>SCN1B</scp></i> mutations in developmental epileptic encephalopathy |
|
|
|
|
|
|
|
|
|
| The new neuromuscular disease related with defects in the <scp>ASC</scp>‐1 complex: report of a second case confirms <i><scp>ASCC1</scp></i> involvement |
|
|
|
|
|
|
|
|
|
| Defining personal utility in genomics: A Delphi study |
|
|
|
|
|
|
|
|
|
| Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism |
|
|
|
|
|
|
|
|
|
| Biallelic loss‐of‐function variants in <i><scp>DOCK3</scp></i> cause muscle hypotonia, ataxia, and intellectual disability |
|
|
|
|
|
|
|
|
|
| Use of multigene‐panel identifies pathogenic variants in several <scp>CRC</scp>‐predisposing genes in patients previously tested for Lynch Syndrome |
|
|
|
|
|
|
|
|
|
| Mutations of <i><scp>MYH14</scp></i> are associated to anorectal malformations with recto‐perineal fistulas in a small subset of Chinese population |
|
|
|
|
|
|
|
|
|
| Identification of novel <i><scp>SNORD118</scp></i> mutations in seven patients with leukoencephalopathy with brain calcifications and cysts |
|
|
|
|
|
|
|
|
|
| <i><scp>DEPDC5</scp></i> mutations in familial and sporadic focal epilepsy |
|
|
|
|
|
|
|
|
|
| Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing |
|
|
|
|
|
|
|
|
|
| Clinical application of <scp>ACMG‐AMP</scp> guidelines in <i><scp>HNF1A</scp></i> and <i><scp>GCK</scp></i> variants in a cohort of <scp>MODY</scp> families |
|
|
|
|
|
|
|
|
|
| Parents’ attitudes toward genetic testing of children for health conditions: A systematic review |
|
|
|
|
|
|
|
|
|
| Attenuated phenotype of Costello syndrome and early death in a patient with an <i><scp>HRAS</scp></i> mutation (c.<scp>179G</scp>>T; p.<scp>Gly60Val</scp>) affecting signalling dynamics |
|
|
|
|
|
|
|
|
|
| A 15‐year‐long Southern blotting analysis of <i><scp>FMR1</scp></i> to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan |
|
|
|
|
|
|
|
|
|
| Genotype and phenotype in 12 additional individuals with <i><scp>SATB2</scp></i>‐associated syndrome |
|
|
|
|
|
|
|
|
|
| Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes |
|
|
|
|
|
|
|
|
|
| Response to: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections |
|
|
|
|
|
|
|
|
|
| Twin‐sisters with <i><scp>PLA2G6</scp></i>‐associated neurodegeneration due to paternal isodisomy of the chromosome 22 following <i>in vitro</i> fertilization |
|
|
|
|
|
|
|
|
|
| Response to Matyas et al |
|
|
|
|
|
|
|
|
|
| The Danish <scp>HD</scp> Registry—a nationwide family registry of <scp>HD</scp> families in Denmark |
|
|
|
|
|
|
|
|
|
| Further delineation of a rare recessive encephalomyopathy linked to mutations in <scp>GFER</scp> thanks to data sharing of whole exome sequencing data |
|
|
|
|
|
|
|
|
|
| <i><scp>PAX9</scp></i> gene mutations and tooth agenesis: A review |
|
|
|
|
|
|
|
|
|
| <i>p.Phe508del</i>, <i>p.Gly542X</i>, <i>p.Arg1162X</i>, <i>p.Asn1303Lys</i>, and <i>p.Lys683serfsX38</i> mutations in CF newborn screening of Brazilian children |
|
|
|
|
|
|
|
|
|
| Additional <i>de novo</i> missense genetic variants in <i><scp>NALCN</scp></i> associated with <scp>CLIFAHDD</scp> syndrome |
|
|
|
|
|
|
|
|
|
| Expanding the mutation spectrum in <scp>ICF</scp> syndrome: Evidence for a gender bias in <scp>ICF2</scp> |
|
|
|
|
|
|
|
|
|
| Experiences in microarray‐based evaluation of developmental disabilities and congenital anomalies |
|
|
|
|
|
|
✓ |
✓ |
Turkish population |
| Issue Information ‐ Editorial Board |
|
|
|
|
|
|
|
|
|
| Somatic mosaicism for a <i><scp>SLC2A1</scp></i> mutation: implications for genetic counseling for <scp>GLUT1</scp> deficiency syndrome |
|
|
|
|
|
|
|
|
|
| Genetic profile of Brazilian patients with dystrophinopathies |
|
|
|
|
|
|
|
|
|
| Association of the missense variant p.<scp>Arg203Trp</scp> in <i><scp>PACS1</scp></i> as a cause of intellectual disability and seizures |
|
|
|
|
|
|
|
|
|
| Novel founder mutation in French‐Canadian families with Naxos disease |
|
|
|
|
|
|
|
|
|
| The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia |
|
|
|
|
|
|
|
|
|
| Dental and extra‐oral clinical features in 41 patients with <i><scp>WNT10A</scp></i> gene mutations: A multicentric genotype–phenotype study |
|
|
|
|
|
|
|
|
|
| Association of genetic variation with blood pressure traits among East Africans |
|
|
|
|
|
|
|
|
|
| Cartilage‐hair hypoplasia with normal height in childhood—4 patients with a unique genotype |
|
|
|
|
|
|
✓ |
✓ |
Finnish |
| BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve |
|
|
|
|
|
|
|
|
|
| A novel homozygous truncating mutation of the <i><scp>SFRP4</scp></i> gene in Pyle's disease |
|
|
|
|
|
|
|
|
|
| Eye coloboma and complex cardiac malformations belong to the clinical spectrum of <i><scp>PUF60</scp></i> variants |
|
|
|
|
|
|
|
|
|
| A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic <i><scp>SEMA3A</scp></i> loss‐of‐function variants |
|
|
|
|
|
|
|
|
|
| A novel missense mutation in <i><scp>NR0B1</scp></i> causes delayed‐onset primary adrenal insufficiency in adults |
|
|
|
|
|
|
|
|
|
| Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer |
|
|
|
|
|
|
|
|
|
| Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility |
|
✓ |
|
|
|
|
✓ |
✓ |
Chinese population; Chinese patients; ethnically matched controls among a Chinese population |
| Broadening the phenotypic spectrum of <scp>POP1</scp>‐skeletal dysplasias: identification of <scp>POP1</scp> mutations in a mild and severe skeletal dysplasia |
|
|
|
|
|
|
|
|
|
| EDA mutation by exome sequencing in non‐syndromic X‐linked oligodontia |
|
|
|
|
|
|
|
|
|
| Further phenotypic heterogeneity of <scp>CoQ10</scp> deficiency associated with steroid resistant nephrotic syndrome and novel <i><scp>COQ2</scp></i> and <i><scp>COQ6</scp></i> variants |
|
|
|
|
|
|
|
|
|
| Genetic profiling of children with advanced cholestatic liver disease |
|
|
|
|
|
|
|
|
|
| <scp>SF1</scp> and spleen development: new heterozygous mutation, literature review and consequences for <i><scp>NR5A1</scp>‐</i>mutated patient's management |
|
|
|
|
|
|
|
|
|
| Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity in Pakistani microcephaly families revisited |
|
|
|
|
|
|
|
|
|
| Mutations in <i><scp>CRLF1</scp></i> cause familial achalasia |
|
|
|
|
|
|
|
|
|
| Spectrum of <i><scp>ATP7B</scp></i> mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Myotonic dystrophy type 1: role of <scp>CCG</scp>, <scp>CTC</scp> and <scp>CGG</scp> interruptions within <i><scp>DMPK</scp></i> alleles in the pathogenesis and molecular diagnosis |
|
|
|
|
|
|
|
|
|
| <i>ARL2BP</i> mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant |
|
|
|
|
|
|
|
|
|
| Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator |
|
✓ |
|
|
|
✓ |
|
|
European raters |
| Mutations in <i><scp>DYNC2H1</scp></i>, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type |
|
|
|
|
|
|
|
|
|
| Associations of<scp>microRNA</scp>single nucleotide polymorphisms and disease risk and pathophysiology |
|
|
|
|
|
|
|
|
|
| PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing |
|
|
|
|
|
|
|
|
|
| Systematic approach to understanding the pathogenesis of systemic sclerosis |
|
|
|
|
|
|
|
|
|
| Catastrophic cellular events leading to complex chromosomal rearrangements in the germline |
|
|
|
|
|
|
|
|
|
| Geographical and ethnic distribution of <i><scp>MTHFR</scp></i> gene polymorphisms and their associations with diseases among Chinese population |
|
|
|
|
|
|
|
|
|
| Novel mutations in <i><scp>KARS</scp></i> cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect |
|
|
|
|
|
|
|
|
|
| Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development |
|
|
|
|
|
|
|
|
|
| Bi‐allelic <i><scp>IARS</scp></i> mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay |
|
|
|
|
|
|
|
|
|
| Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type<scp>II</scp> |
|
|
|
|
|
|
✓ |
✓ |
Slavic; Czech, Slovak, Croatian and Serbian patients (nationalities/ethnic groups) |
| Compound heterozygous mutations in the <i><scp>IFT140</scp></i> gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy |
|
|
|
|
|
|
|
|
|
| The current state of diagnostic genetics for conditions affecting sex development |
|
|
|
|
|
|
|
|
|
| Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex |
|
|
|
|
|
|
|
|
|
| Autosomal recessive variations of <i><scp>TBX6</scp></i>, from congenital scoliosis to spondylocostal dysostosis |
|
|
|
|
|
|
|
|
|
| Alport syndrome: impact of digenic inheritance in patients management |
|
|
|
|
|
|
|
|
|
| Homozygous deletion of <scp>RAG1</scp>, <scp>RAG2</scp> and 5′ region <scp>TRAF6</scp> causes severe immune suppression and atypical osteopetrosis |
|
|
|
|
|
|
|
|
|
| Non‐coding variation in disorders of sex development |
|
|
|
|
|
|
|
|
|
| Genetics and genomics of ovarian sex cord‐stromal tumors |
|
|
|
|
|
|
|
|
|
| Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1 |
|
|
|
|
|
|
|
|
|
| The inheritance of juvenile onset primary open angle glaucoma |
|
|
|
|
|
|
|
|
|
| Gene mutation analysis of 175 Chinese patients with early‐onset epileptic encephalopathy |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling? |
|
|
|
|
|
|
|
|
|
| <i><scp>FBXL4</scp></i> defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial <scp>DNA</scp> depletion syndrome |
|
|
|
|
|
|
|
|
|
| The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome |
|
|
|
|
|
|
|
|
|
| <scp>CHARGE</scp> syndrome gastrointestinal involvement: from mouth to anus |
|
|
|
|
|
|
|
|
|
| Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases |
|
|
|
|
|
|
|
|
|
| Novel <i><scp>DNMT3A</scp></i> germline mutations are associated with inherited Tatton‐Brown–Rahman syndrome |
|
|
|
|
|
|
✓ |
✓ |
Old Order Amish; French Canadian |
| Evaluation of a population‐based approach to familial colorectal cancer |
|
|
|
|
|
|
|
|
|
| Expansion of the <scp>GLE1</scp>‐associated arthrogryposis multiplex congenita clinical spectrum |
|
|
|
|
|
|
✓ |
✓ |
Finnish population; non‐Finnish |
| A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia |
|
|
|
|
|
|
|
|
CEU |