| # | Title | Journal | Year | Citations |
|---|
| 1 | Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study | Lancet, The | 2019 | 443 |
| 2 | Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling | American Journal of Human Genetics | 2015 | 230 |
| 3 | Quantifying the contribution of recessive coding variation to developmental disorders | Science | 2018 | 158 |
| 4 | Infantile neuroaxonal dystrophy caused by uniparental disomy | Developmental Medicine and Child Neurology | 2014 | 132 |
| 5 | De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability | American Journal of Medical Genetics, Part A | 2015 | 96 |
| 6 | ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder | American Journal of Human Genetics | 2017 | 83 |
| 7 | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients | European Journal of Human Genetics | 2018 | 72 |
| 8 | Standardized Total Average Toxicity Score: A Scale- and Grade-Independent Measure of Late Radiotherapy Toxicity to Facilitate Pooling of Data From Different Studies | International Journal of Radiation Oncology Biology Physics | 2012 | 63 |
| 9 | A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype | Journal of Medical Genetics | 2016 | 51 |
| 10 | Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes | American Journal of Human Genetics | 2018 | 46 |
| 11 | Prenatal exposure to binge pattern of alcohol consumption: mental health and learning outcomes at age 11 | European Child and Adolescent Psychiatry | 2014 | 40 |
| 12 | De novo mutations in HNRNPU result in a neurodevelopmental syndrome | American Journal of Medical Genetics, Part A | 2017 | 38 |
| 13 | Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 | European Journal of Human Genetics | 2011 | 30 |
| 14 | ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome | American Journal of Medical Genetics, Part A | 2019 | 29 |
| 15 | Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish | Neurogenetics | 2010 | 26 |
| 16 | An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers | Breast Cancer Research | 2015 | 26 |
| 17 | Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population | Prenatal Diagnosis | 2010 | 22 |
| 18 | Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene | Molecular Genetics & Genomic Medicine | 2016 | 19 |
| 19 | No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome | Orphanet Journal of Rare Diseases | 2015 | 16 |
| 20 | Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature | American Journal of Medical Genetics, Part A | 2019 | 16 |
| 21 | Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss | Molecular Genetics & Genomic Medicine | 2020 | 13 |
| 22 | Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family | CKJ: Clinical Kidney Journal | 2014 | 5 |
| 23 | Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant | American Journal of Medical Genetics, Part A | 2021 | 4 |
| 24 | Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service | British Journal of Cancer | 2022 | 4 |
| 25 | Clinical genetics: past, present and future | European Journal of Human Genetics | 2022 | 3 |
| 26 | Is 15q11.2 microdeletion associated with periventricular nodular heterotopia? | Clinical Dysmorphology | 2015 | 1 |
