Damian Smedley
Queen Mary University of London
H-index: 67
Europe-United Kingdom
Top articles of Damian Smedley
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Medullary Sponge Kidney and its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics First Approach | Nephron | Gerrit van den Berg Laura Claus Bert van der Zwaag Phillis Lakeman Lotte Kaasenbrood | 2024/3/6 |
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data | Annals of Human Genetics | Sarah Orr Eric Olinger Sotia Iosifidou Miguel Barroso‐Gil Ruxandra Neatu | 2024/1 |
Clinical application of tumour-in-normal contamination assessment from whole genome sequencing | Nature Communications | Jonathan Mitchell Salvatore Milite Jack Bartram Susan Walker Nadezda Volkova | 2024/1/18 |
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci | Nature Communications | Victor Lopez Soriano Alfredo Dueñas Rey Rajarshi Mukherjee Genomics England Research Consortium Inglehearn Chris F. 5 Frauke Coppieters | 2024/2/21 |
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder | Genetics in Medicine | Lisa Pavinato Jennifer Stanic Marta Barzasi Antonia Gurgone Giuseppe Chiantia | 2023/11/1 |
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules | Science | Daniel O Dodd Sabrina Mechaussier Patricia L Yeyati Fraser McPhie Jacob R Anderson | 2024/4/26 |
<? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world | Nucleic acids research | Michael A Gargano Nicolas Matentzoglu Ben Coleman Eunice B Addo-Lartey Anna V Anagnostopoulos | 2024/1/5 |
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’individuals recruited to the 100 000 Genomes … | Journal of Medical Genetics | Claire L Shovlin Fatma I Almaghlouth Ali Alsafi Nicola Coote Catherine Rennie | 2024/2/1 |
Contribution of variants across the allelic frequency spectrum to cystic kidney disease | medRxiv | Omid Sadeghi-Alavijeh Melanie MY Chan Gabriel Doctor Catalin Voinescu Alex Stuckey | 2024 |
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4 | Movement disorders | Zhongbo Chen Emil K Gustavsson Hannah Macpherson Claire Anderson Chris Clarkson | 2024/1/10 |
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype | European journal of medical genetics | J Robert Harkness Huw B Thomas Jill E Urquhart Peter Jamieson Raymond T O'Keefe | 2024/2/1 |
Lethal phenotypes in Mendelian disorders | medRxiv | Pilar Cacheiro Samantha Lawson Ignatia B Van den Veyver Gabriel Marengo David Zocche | 2024 |
Challenging our understanding of B‐cell lymphomagenesis and risk: Paediatric high‐grade B‐cell lymphoma, not otherwise specified with a DDX3X::MLLT10 fusion and an … | Pediatric Blood & Cancer | Lucy Hare Jamie Trotman Patrick Tarpey Elizabeth Hook GA Amos Burke | 2024/3 |
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project | Genetics in Medicine | Eleanor G Seaby Gary Leggatt Guo Cheng N Simon Thomas James J Ashton | 2024/4/1 |
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project | medRxiv | Sarah L Stenton Melanie O’Leary Gabrielle Lemire Grace E VanNoy Stephanie DiTroia | 2023/8/4 |
Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease | Genome Medicine | Alfredo Dueñas Rey Marta del Pozo Valero Manon Bouckaert Katherine A Wood Filip Van den Broeck | 2024/1/6 |
Improving prenatal diagnosis through standards and aggregation | Michael H Duyzend Pilar Cacheiro Julius OB Jacobsen Jessica Giordano Harrison Brand | 2024/1/19 | |
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design | Movement Disorders | Jussi Pekka Tolonen Ricardo Parolin Schnekenberg Simon McGowan David Sims Meriel McEntagart | 2024/1 |
A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements | medRxiv | Ruizhi Deng Elena Perenthaler Anita Nikoncuk Soheil Yousefi Kristina Lanko | 2024 |
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species | Nucleic acids research | Tim E Putman Kevin Schaper Nicolas Matentzoglu Vincent P Rubinetti Faisal S Alquaddoomi | 2024/1/5 |
