Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

A. Need · SciRah

Researcher profile · Semantic Scholar

A. Need

Share profile

A. Need — researcher profile on SciRah

h-index: 49
Works: 122
Citations: 14K

Most-cited papers

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli
Cayetano Pleguezuelos-Manzano, Jens Puschhof, Axel K. M. Rosendahl Huber, A. van Hoeck +97 more
2020Nature1,069 citations Open access
Semantic Scholar
A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci
S. Pillai, D. Ge, Guohua Zhu, X. Kong +14 more
2009PLoS Genetics803 citations Open access
Semantic Scholar
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
G. Davies, Max Lam, S. Harris, Joey W. Trampush +218 more
2018Nature Communications644 citations Open access
Semantic Scholar
A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia
A. Need, D. Ge, M. Weale, J. Maia +29 more
2009PLoS Genetics473 citations Open access
Semantic Scholar
Clinical application of exome sequencing in undiagnosed genetic conditions
A. Need, V. Shashi, Hitomi Yuki, K. Schoch +4 more
2012Journal of Medical Genetics437 citations Open access
Semantic Scholar
Next generation disparities in human genomics: concerns and remedies.
A. Need, D. Goldstein
2009Trends in Genetics364 citations
Semantic Scholar
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Xiaolin Zhu, S. Petrovski, Ping-Xing Xie, E. Ruzzo +23 more
2015Genetics in Medicine340 citations Open access
Semantic Scholar
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
V. Shashi, A. McConkie-Rosell, Bruce Rosell, K. Schoch +6 more
2013Genetics in Medicine289 citations Open access
Semantic Scholar
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
Joey W. Trampush, Ming Yang, Jin Yu, E. Knowles +62 more
2017Molecular Psychiatry263 citations Open access
Semantic Scholar
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population
A. De Gasperi, X. Zou, Tauanne Dias Amarante, Andrea Martínez-Martínez +74 more
2022Science259 citations Open access
Semantic Scholar
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
E. Heinzen, R. Radtke, T. Urban, G. Cavalleri +47 more
2010American Journal of Human Genetics258 citations Open access
Semantic Scholar
Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway
G. Enns, V. Shashi, M. Bainbridge, M. Gambello +29 more
2014Genetics in Medicine213 citations Open access
Semantic Scholar
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
D. Smedley, Katherine R. Smith, A. Martin, E. Thomas +193 more
2021New England Journal of Medicine179 citations Open access
Semantic Scholar
Origins and impact of extrachromosomal DNA
Chris Bailey, O. Pich, K. Thol, T. Watkins +86 more
2024Nature168 citations Open access
Semantic Scholar
The Characterization of Twenty Sequenced Human Genomes
K. Pelak, K. Shianna, D. Ge, J. Maia +21 more
2010PLoS Genetics167 citations Open access
Semantic Scholar
Using ERDS to infer copy-number variants in high-coverage genomes.
Mingfu Zhu, A. Need, Yujun Han, D. Ge +12 more
2012American Journal of Human Genetics162 citations Open access
Semantic Scholar
A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with “traditional” neuropsychological testing instruments
Patrick J. Smith, A. Need, E. Cirulli, O. Chiba-Falek +1 more
2013Journal of Clinical and Experimental Neuropsychology157 citations
Semantic Scholar
Copy Number Variation of KIR Genes Influences HIV-1 Control
K. Pelak, A. Need, J. Fellay, K. Shianna +18 more
2011PLoS Biology156 citations Open access
Semantic Scholar
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
X. Zou, G. Koh, A. S. Nanda, A. De Gasperi +99 more
2021Nature Cancer135 citations Open access
Semantic Scholar
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
Xiaolin Zhu, A. Need, S. Petrovski, D. Goldstein
2014Nature Neuroscience125 citations
Semantic Scholar
Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer’s Disease
E. Heinzen, A. Need, K. Hayden, O. Chiba-Falek +6 more
2010Journal of Alzheimer's Disease125 citations Open access
Semantic Scholar
Large-scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets
Max Lam, Joey W. Trampush, Jin Yu, E. Knowles +61 more
2017bioRxiv121 citations Open access
Semantic Scholar
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways
Max Lam, W. Hill, Joey W. Trampush, Jin Yu +64 more
2019bioRxiv115 citations Open access
Semantic Scholar
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
E. Heinzen, C. Depondt, G. Cavalleri, E. Ruzzo +26 more
2012American Journal of Human Genetics112 citations Open access
Semantic Scholar
Common genetic variation and performance on standardized cognitive tests
E. Cirulli, D. Kasperavičiūtė, D. Attix, A. Need +3 more
2010European Journal of Human Genetics108 citations Open access
Semantic Scholar
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.
A. Need, J. Mcevoy, M. Gennarelli, E. Heinzen +17 more
2012American Journal of Human Genetics103 citations Open access
Semantic Scholar
SVA: software for annotating and visualizing sequenced human genomes
D. Ge, E. Ruzzo, K. Shianna, Min He +10 more
2011Bioinform.76 citations Open access
Semantic Scholar
A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative
V. Shashi, K. Schoch, R. Spillmann, H. Cope +8 more
2018Genetics in Medicine74 citations Open access
Semantic Scholar
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
N. Dominik, S. Magri, R. Curro', Elena Abati +114 more
2023Brain : a journal of neurology69 citations Open access
Semantic Scholar
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Ning Liu, K. Schoch, Xi Luo, Loren D. M. Pena +21 more
2018Human Molecular Genetics63 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +191 more
2016American Journal of Human Genetics58 citations Open access
Semantic Scholar
COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals.
N. Dennis, A. Need, K. LaBar, Sheena Waters-Metenier +4 more
2010Cerebral Cortex57 citations Open access
Semantic Scholar
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
N. Spielmann, Gregor Miller, Tudor I. Oprea, Chih-Wei Hsu +243 more
2022Nature Cardiovascular Research55 citations Open access
Semantic Scholar
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie F. Rowlands, Huw B. Thomas, J. Lord, H. Wai +76 more
2020Scientific Reports55 citations Open access
Semantic Scholar
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Helena Martins Custodio, Lisa M. Clayton, Ravishankara Bellampalli, Susan Pagni +75 more
2023Brain : a journal of neurology53 citations Open access
Semantic Scholar
Brain-derived neurotrophic factor Val66Met polymorphism and hippocampal activation during episodic encoding and retrieval tasks
N. Dennis, R. Cabeza, A. Need, Sheena Waters-Metenier +2 more
2010Hippocampus49 citations Open access
Semantic Scholar
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
A. Pagnamenta, R. Kaiyrzhanov, Ya-Qun Zou, S. Da'as +50 more
2021Brain : a journal of neurology47 citations Open access
Semantic Scholar
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
J. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla +90 more
2022Scientific Reports43 citations Open access
Semantic Scholar
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
A. McGuigan, James Whitworth, Avgi Andreou, T. Hearn +58 more
2022European Journal of Human Genetics42 citations Open access
Semantic Scholar
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
A. Vig, J. Poulter, D. Ottaviani, E. Tavares +100 more
2020Genetics in Medicine42 citations Open access
Semantic Scholar
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
J. Trotman, R. Armstrong, H. Firth, C. Trayers +65 more
2022British Journal of Cancer40 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +30 more
2017American Journal of Human Genetics40 citations Open access
Semantic Scholar
The RBMX gene as a candidate for the Shashi X‐linked intellectual disability syndrome
V. Shashi, Ping-Xing Xie, K. Schoch, D. Goldstein +7 more
2015Clinical Genetics37 citations
Semantic Scholar
The importance of dynamic re-analysis in diagnostic whole exome sequencing
A. Need, V. Shashi, K. Schoch, S. Petrovski +1 more
2016Journal of Medical Genetics36 citations
Semantic Scholar
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
A. Vetro, Cristiana Pelorosso, S. Balestrini, A. Masi +117 more
2023American Journal of Human Genetics35 citations Open access
Semantic Scholar
Schizophrenia genetics comes of age.
A. Need, D. Goldstein
2014Neuron33 citations Open access
Semantic Scholar
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Dara Tolchin, J. P. Yeager, Priya Prasad, N. Dorrani +115 more
2020American Journal of Human Genetics32 citations Open access
Semantic Scholar
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
Paul W Chrystal, N. Lambacher, Lance P. Doucette, J. Bellingham +85 more
2022Nature Communications30 citations Open access
Semantic Scholar
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
P. Sanjaya, Katri Maljanen, R. Katainen, Sebastian M. Waszak +63 more
2022bioRxiv30 citations Open access
Semantic Scholar
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
W. Macken, M. Falabella, Caroline L. McKittrick, C. Pizzamiglio +78 more
2022Nature Communications29 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

D. Goldstein×22
Invite
D. Goldstein — researcher profile on SciRah
D. Pérez-Gil×18
Invite
D. Pérez-Gil — researcher profile on SciRah
S. Wood×18
Invite
S. Wood — researcher profile on SciRah
J. Ambrose×17
Invite
J. Ambrose — researcher profile on SciRah

F. Boardman-Pretty

×17

Invite

F. Boardman-Pretty — researcher profile on SciRah

Invite

T. Hubbard — researcher profile on SciRah

D. Kasperaviciute×17

Invite

D. Kasperaviciute — researcher profile on SciRah

L. Lahnstein×17

Invite

L. Lahnstein — researcher profile on SciRah

F. Maleady-Crowe×17

Invite

F. Maleady-Crowe — researcher profile on SciRah

Invite

C. Odhams — researcher profile on SciRah

J. Pullinger×17

Invite

J. Pullinger — researcher profile on SciRah

Invite

T. Rahim — researcher profile on SciRah