| 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 | 121 | 160 |
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| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | | | 2020 | 418 | 1 |
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| De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy | American Journal of Human Genetics | | | 2020 | 273 | 0 |
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| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | | 2018 | 593 | 2 |
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| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay | Genetics in Medicine | | | 2018 | 585 | 345 |
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| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics | | | 2018 | 80 | 106 |
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| 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 | 464 | 557 |
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| 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 | 681 | 2 |
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| Defining categories of actionability for secondary findings in next-generation sequencing | Journal of medical ethics | | | 2017 | 623 | 0 |
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| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics | | | 2016 | 657 | 462 |
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| Research of pathogenic mutations in the human genome through the study of consanguineous families | | | | 2016 | 491 | 4 |
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| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | | 2016 | 559 | 341 |
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| 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 | 704 | 302 |
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| Choking Fits During Sleep Related to Epilepsy | The American journal of medicine | | | 2016 | 583 | 1 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 354 |
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| CATCHing putative causative variants in consanguineous families | BMC bioinformatics | | | 2015 | 627 | 222 |
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| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | | | 2015 | 756 | 0 |
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| Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders | Genome research | | | 2015 | 555 | 2 |
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| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | | 2015 | 667 | 472 |
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| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | | 2015 | 730 | 328 |
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| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | | 2014 | 681 | 219 |
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| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | | 2014 | 751 | 0 |
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| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 704 | 4 |
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| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | | 2014 | 671 | 0 |
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| EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations | Orphanet journal of rare diseases | | | 2014 | 630 | 187 |
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| 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 | 730 | 337 |
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| Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report | BMC medical genetics | | | 2014 | 570 | 223 |
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| A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly | Human mutation | | | 2014 | 686 | 4 |
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| DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy | Neurology | | | 2014 | 714 | 624 |
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| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | | 2014 | 775 | 274 |
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| Analysis of the Born in Bradford birth cohort | Lancet | | | 2014 | 763 | 4 |
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| Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Bone | | | 2014 | 620 | 0 |
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| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | | 2013 | 751 | 692 |
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| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | | 2013 | 780 | 545 |
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| Pathogenic variants in non-protein-coding sequences | Clinical genetics | | | 2013 | 585 | 0 |
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| 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 | 590 | 0 |
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| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study | Clinical genetics | | | 2013 | 682 | 2 |
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| 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 | 686 | 0 |
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| High-throughput sequencing and rare genetic diseases | Molecular syndromology | | | 2012 | 633 | 320 |
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| From sequence to functional understanding: the difficult road ahead | Genome medicine | | | 2011 | 623 | 175 |
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| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | | 2011 | 732 | 0 |
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| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | | 2010 | 688 | 0 |
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| Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion | Pediatric and developmental pathology | | | 2010 | 728 | 0 |
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| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls | Human mutation | | | 2009 | 480 | 0 |
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| Efficient targeted transcript discovery via array-based normalization of RACE libraries | Nature methods | | | 2008 | 702 | 531 |
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