Anna Need
Imperial College London
H-index: 46
Europe-United Kingdom
Top articles of Anna Need
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
2024/2/29
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Genetics in medicine
2024/2/1
Bhaskar Roy
H-Index: 11
Krishna Iyer
H-Index: 3
Siddharth Banka
H-Index: 33
Ying Hu
H-Index: 10
William Wilson
H-Index: 8
Caroline Clark
H-Index: 3
Nicola Cooper
H-Index: 35
Helen Cox
H-Index: 40
Derek Lim
H-Index: 2
Swati Naik
H-Index: 3
Alison Hills
H-Index: 11
Karen Low
H-Index: 6
Evan Reid
H-Index: 26
Marc Tischkowitz
H-Index: 54
Andrew Green
H-Index: 21
Jonathan Berg
H-Index: 6
Andrew Jackson
H-Index: 7
David Moore
H-Index: 14
Nicola Williams
H-Index: 1
Wendy Jones
H-Index: 7
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine
2024/4/1
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’condition
Brain
2023/9
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Human Genetics and Genomics Advances
2023/4/13
Karen Low
H-Index: 6
Simon Lovell
H-Index: 25
E Williams
H-Index: 18
Olaf Riess
H-Index: 50
Christoph Kessler
H-Index: 13
Hans Scheffer
H-Index: 39
Alexander Hoischen
H-Index: 56
Christian Gilissen
H-Index: 58
Colin Veal
H-Index: 14
Spencer Gibson
H-Index: 32
Mehdi Mehtarizadeh
H-Index: 1
Volker Straub
H-Index: 56
Siddharth Banka
H-Index: 33
Yannis Duffourd
H-Index: 23
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome
Clinical Genetics
2023/3
A Genomics England haplotype reference panel and the imputation of the UK Biobank
medRxiv
2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
The American Journal of Human Genetics
2023/8/3
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Genetics in Medicine
2023/1/1
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology
2023/12/13
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
The American Journal of Human Genetics
2023/8/3
Sophie Hambleton
H-Index: 39
Pilar Cacheiro
H-Index: 7
Guido Mannaioni
H-Index: 24
Marcello Scala
H-Index: 7
Damian Smedley
H-Index: 40
Francesco Mari
H-Index: 2
Matteo Lulli
H-Index: 14
Helen Griffin
H-Index: 31
Roel Bevers
H-Index: 6
John N Griffin
H-Index: 28
Jonathan Mitchell
H-Index: 4
Loukas Moutsianas
H-Index: 23
Michael Mueller
H-Index: 1
Tim Rogers
H-Index: 16
Eleanor Williams
H-Index: 1
Kazuhiro Ogata
H-Index: 9
Takashi Suzuki
H-Index: 11
Naomichi Matsumoto
H-Index: 56
Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene
Ophthalmology
2023/1/1
James A Poulter
H-Index: 26
Gavin Arno
H-Index: 26
Rachel Taylor
H-Index: 1
Panagiotis Sergouniotis
H-Index: 27
Nikolas Pontikos
H-Index: 21
Michael Cheetham
H-Index: 39
Jing Yu
H-Index: 20
Stephanie Halford
H-Index: 19
Roel Bevers
H-Index: 6
Loukas Moutsianas
H-Index: 23
Michael Mueller
H-Index: 1
Tim Rogers
H-Index: 16
Eleanor Williams
H-Index: 1
The genomic landscape of familial glioma
Science Advances
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
2023/11/1
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease
Kidney International
2023/11/1
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
The Lancet Neurology
2022/3/1
Katherine R Smith
H-Index: 2
Richard Festenstein
H-Index: 15
Pietro Fratta
H-Index: 35
Robert Robinson
H-Index: 4
David Bourn
H-Index: 10
Jana Vandrovcova
H-Index: 26
Anna Need
H-Index: 29
Loukas Moutsianas
H-Index: 23
Patrick F Chinnery
H-Index: 79
I Karen Temple
H-Index: 43
William Newman
H-Index: 47
Paul Brennan
H-Index: 13
John Hardy
H-Index: 9
Michael Mueller
H-Index: 1
Tim Rogers
H-Index: 16
Damian Smedley
H-Index: 40
Razvan Sultana
H-Index: 19
Eleanor Williams
H-Index: 1
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Genetics in Medicine
2022/10/1
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Genetics in Medicine
2021/12/1
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Genetics in medicine
2022/6/1
Aidin Foroutan
H-Index: 5
Michael Levy
H-Index: 29
Sadegheh Haghshenas
H-Index: 2
Michael Bamshad
H-Index: 61
Thomas Wright
H-Index: 5
Nelly Pitteloud
H-Index: 43
Swati Naik
H-Index: 3
Andre Reis
H-Index: 13
Naomichi Matsumoto
H-Index: 56
Roel Bevers
H-Index: 6
Loukas Moutsianas
H-Index: 23
Michael Mueller
H-Index: 1
Eleanor Williams
H-Index: 1
Bekim Sadikovic
H-Index: 27
Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy
Annals of Neurology
2022/1
