PM
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts | Orphanet journal of rare diseases |  | 2022 | 117 | 91 | ||
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics |  | 2020 | 412 | 1 | ||
| De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy | American Journal of Human Genetics | | 2020 | 269 | 0 | ||
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | 2018 | 587 | 2 | ||
| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay | Genetics in Medicine | | 2018 | 578 | 274 | ||
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics online | | 2018 | 75 | 67 | ||
| Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother | Journal of Human Genetics | | 2018 | 456 | 468 | ||
| Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors | The Journal of Pathology | | 2017 | 677 | 2 | ||
| Defining categories of actionability for secondary findings in next-generation sequencing | Journal of medical ethics | | 2017 | 617 | 0 | ||
| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | | 2016 | 652 | 362 | ||
| Research of pathogenic mutations in the human genome through the study of consanguineous families | | 2016 | 484 | 4 | |||
| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | 2016 | 555 | 284 | ||
| Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy | American journal of human genetics | | 2016 | 696 | 252 | ||
| Choking Fits During Sleep Related to Epilepsy | The American journal of medicine | | 2016 | 578 | 1 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 742 | 277 | ||
| CATCHing putative causative variants in consanguineous families | BMC bioinformatics | | 2015 | 621 | 206 | ||
| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | 2015 | 749 | 0 | |||
| Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders | Genome research | | 2015 | 550 | 2 | ||
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | 2015 | 659 | 457 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 723 | 288 | ||
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | 2014 | 677 | 203 | ||
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | 2014 | 744 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 697 | 4 | ||
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | 2014 | 667 | 0 | ||
| EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations | Orphanet journal of rare diseases | | 2014 | 622 | 149 | ||
| Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling | PLOS genetics | | 2014 | 723 | 314 | ||
| Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report | BMC medical genetics | | 2014 | 565 | 212 | ||
| A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly | Human mutation | | 2014 | 680 | 4 | ||
| DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy | Neurology | | 2014 | 708 | 447 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 771 | 244 | ||
| Analysis of the Born in Bradford birth cohort | Lancet | | 2014 | 757 | 4 | ||
| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | | 2014 | 613 | 0 | ||
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | 2013 | 745 | 567 | ||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 775 | 523 | ||
| Pathogenic variants in non-protein-coding sequences | Clinical genetics | | 2013 | 580 | 0 | ||
| Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia | American journal of human genetics | | 2013 | 574 | 0 | ||
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study | Clinical genetics | | 2013 | 677 | 2 | ||
| Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? | European journal of medical genetics | | 2012 | 682 | 0 | ||
| High-throughput sequencing and rare genetic diseases | Molecular syndromology | | 2012 | 628 | 276 | ||
| From sequence to functional understanding: the difficult road ahead | Genome medicine | | 2011 | 619 | 161 | ||
| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | 2011 | 722 | 0 | ||
| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | 2010 | 682 | 0 | ||
| Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion | Pediatric and developmental pathology | | 2010 | 721 | 0 | ||
| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls | Human mutation | | 2009 | 473 | 0 | ||
| Efficient targeted transcript discovery via array-based normalization of RACE libraries | Nature methods | | 2008 | 696 | 509 |
