Concepedia
Statistics
Publications
12
Citations
1.4K
H-Index
11
Active since
1989
Affiliations
Leicester Royal Infirmary(Current)
University Hospitals of Leicester NHS Trust
Wessex Regional Genetics Laboratory
Sheffield Children's NHS Foundation Trust
Wellcome Sanger Institute
Lara Cresswell is an author at Leicester Royal Infirmary specializing in medicine, genetics, and genomics.
Top concepts
MedicineGeneticsGenomicsPediatricsSequencingNeurogeneticsPublic HealthGenetic EpidemiologyDevelopmental BiologyMolecular Diagnostics
Publications per year
1989–2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text
Lord J, McMullan DJ, Eberhardt RY et al. · Yearbook of pediatric endocrinology · 2019 · 155 citations
Genetics, Genetic Epidemiology, Diagnosis +22
Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype
Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite et al. · Journal of Medical Genetics · 2011 · 133 citations · Full text
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
John Barber, Viv Maloney, Shuwen Huang et al. · European Journal of Human Genetics · 2007 · 126 citations · Full text
Array Cgh, Genetic Disorder, Genetics +7
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text
Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8
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