Anna Need
Imperial College London
H-index: 46
Europe-United Kingdom
Top articles of Anna Need
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
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 |
Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel … | Genetics in Medicine Open | Eric Olinger Ian J Wilson Sarah Orr Miguel Barroso-Gil Ruxandra Neatu | 2024/2/29 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome | Clinical Genetics | Laura A Devlin Janice Coles Claire L Jackson Miguel Barroso‐Gil Ben Green | 2023/3 |
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’condition | Brain | Helena Martins Custodio Lisa M Clayton Ravishankara Bellampalli Susanna Pagni Katri Silvennoinen | 2023/9 |
A Genomics England haplotype reference panel and the imputation of the UK Biobank | medRxiv | Sinan Shi Simone Rubinacci Sile Hu Loukas Moutsianas Alex Stuckey | 2023 |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | The American Journal of Human Genetics | Eva Niggl Arjan Bouman Lauren C Briere Remco M Hoogenboezem Ilse Wallaard | 2023/8/3 |
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia | Genetics in Medicine | Heba Morsy Mehdi Benkirane Elisa Cali Clarissa Rocca Kristina Zhelcheska | 2023/1/1 |
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration | The American Journal of Human Genetics | Annalisa Vetro Cristiana Pelorosso Simona Balestrini Alessio Masi Sophie Hambleton | 2023/8/3 |
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease | Gastroenterology | Ria Schönauer Dana Sierks Melissa Boerrigter Tabinda Jawaid Lea Caroff | 2023/12/13 |
Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene | Ophthalmology | Samar Yahya Claire EL Smith James A Poulter Martin McKibbin Gavin Arno | 2023/1/1 |
The genomic landscape of familial glioma | Science Advances | Dong-Joo Choi Georgina Armstrong Brittney Lozzi Prashanth Vijayaraghavan Sharon E Plon | 2023/4/28 |
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease | Kidney International | Laura R Claus Chuan Chen Jennifer Stallworth Joshua L Turner Gisela G Slaats | 2023/11/1 |
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | Human Genetics and Genomics Advances | Adam Jackson Sheng-Jia Lin Elizabeth A Jones Kate E Chandler David Orr | 2023/4/13 |
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease | Kidney International | Omid Sadeghi-Alavijeh Melanie MY Chan Shabbir H Moochhala John C Ambrose Prabhu Arumugam | 2023/11/1 |
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy | Genetics in Medicine | Joohyun Park Arianna Tucci Valentina Cipriani German Demidov Clarissa Rocca | 2022/10/1 |
Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy | Annals of Neurology | Alexandre Bacq Delphine Roussel Thomas Bonduelle Sara Zagaglia Marina Maletic | 2022/1 |
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile | Genetics in medicine | Reem Al-Jawahiri Aidin Foroutan Jennifer Kerkhof Haley McConkey Michael Levy | 2022/6/1 |
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects | Clinical Genetics | Alistair T Pagnamenta Adam Jackson Rahat Perveen Glenda Beaman Gemma Petts | 2022/1 |
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis | Genetics in Medicine | Nicholas Owen Maria Toms Rodrigo M Young Jonathan Eintracht Hajrah Sarkar | 2022/5/1 |
