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A. David · SciRah

Researcher profile · Semantic Scholar

A. David

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A. David — researcher profile on SciRah

h-index: 26
Works: 70
Citations: 2,883

Most-cited papers

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?
Sirawit Ittisoponpisan, S. Islam, Tarun Khanna, Eman Alhuzimi +2 more
2019Journal of Molecular Biology462 citations Open access
Semantic Scholar
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
L. Metherell, J. Chapple, Sadani N. Cooray, A. David +9 more
2005Nature Genetics433 citations
Semantic Scholar
The AlphaFold Database of Protein Structures: A Biologist’s Guide
A. David, S. Islam, Evgeny Tankhilevich, Michael Je Sternberg
2021Journal of Molecular Biology218 citations Open access
Semantic Scholar
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
A. David, V. Hwa, L. Metherell, I. Netchine +4 more
2011Endocrine reviews198 citations Open access
Semantic Scholar
Protein–protein interaction sites are hot spots for disease‐associated nonsynonymous SNPs
A. David, Rozami Razali, M. Wass, Michael J. E. Sternberg
2012Human Mutation174 citations
Semantic Scholar
The Contribution of Missense Mutations in Core and Rim Residues of Protein–Protein Interfaces to Human Disease
A. David, M. Sternberg
2015Journal of Molecular Biology127 citations Open access
Semantic Scholar
IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty
S. Howard, L. Guasti, G. Ruiz-Babot, A. Mancini +16 more
2016EMBO Molecular Medicine122 citations Open access
Semantic Scholar
Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders
M. Savage, K. Attie, A. David, L. Metherell +2 more
2006Nature Clinical Practice Endocrinology &Metabolism91 citations
Semantic Scholar
Challenges for the prediction of macromolecular interactions.
M. Wass, A. David, M. Sternberg
2011Current Opinion in Structural Biology89 citations
Semantic Scholar
PDBe-KB: collaboratively defining the biological context of structural data
M. Váradi, S. Anyango, David R. Armstrong, J. Berrisford +67 more
2021Nucleic Acids Res.70 citations Open access
Semantic Scholar
Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene
V. Hwa, C. Camacho-Hübner, B. Little, A. David +4 more
2007Hormone Research in Paediatrics68 citations
Semantic Scholar
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants
Tarun Khanna, Gordon Hanna, M. Sternberg, A. David
2021Human Genetics60 citations Open access
Semantic Scholar
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production
Xi-Lin Wu, E. Azizan, E. Goodchild, Sumedha Garg +39 more
2023Nature Genetics49 citations Open access
Semantic Scholar
A common TMPRSS2 variant has a protective effect against severe COVID-19
A. David, N. Parkinson, T. Peacock, E. Pairo-Castineira +9 more
2022Current Research in Translational Medicine47 citations Open access
Semantic Scholar
An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.
A. David, C. Camacho-Hübner, A. Bhangoo, S. Rose +8 more
2007Journal of Clinical Endocrinology and Metabolism47 citations Open access
Semantic Scholar
Ligand-Specific Factors Influencing GLP-1 Receptor Post-Endocytic Trafficking and Degradation in Pancreatic Beta Cells
Zi-Jian Fang, Shiqian Chen, Yusman Manchanda, S. Bitsi +14 more
2020International Journal of Molecular Sciences42 citations Open access
Semantic Scholar
Genetic Defects in the Growth Hormone–IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth
M. Savage, V. Hwa, A. David, R. Rosenfeld +1 more
2011Front. Endocrin.39 citations Open access
Semantic Scholar
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights
Sirawit Ittisoponpisan, Eman Alhuzimi, Michael J. E. Sternberg, A. David
2017Human Mutation38 citations Open access
Semantic Scholar
PhenoRank: reducing study bias in gene prioritization through simulation
A. Cornish, A. David, M. Sternberg
2018Bioinform.36 citations Open access
Semantic Scholar
EAP1 regulation of GnRH promoter activity is important for human pubertal timing
A. Mancini, S. Howard, C. Cabrera, M. Barnes +7 more
2019Human Molecular Genetics33 citations Open access
Semantic Scholar
LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling
A. Mancini, S. Howard, F. Marelli, C. Cabrera +16 more
2020JCI Insight32 citations Open access
Semantic Scholar
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty
S. Howard, L. Guasti, Ariel H. B. Poliandri, A. David +10 more
2017Journal of Clinical Endocrinology and Metabolism32 citations Open access
Semantic Scholar
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency
Kanimozhi Vairamani, L. Merjaneh, Paula Casano-Sancho, M. Şanlı +9 more
2017Journal of the Endocrine Society29 citations Open access
Semantic Scholar
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
M. Savage, C. Camacho-Hübner, A. David, L. Metherell +3 more
2007European Journal of Endocrinology27 citations
Semantic Scholar
Rare Variants in the MECP2 Gene in Girls with Central Precocious Puberty
A. Canton, F. Tinano, L. Guasti, L. Montenegro +26 more
2023The Lancet Diabetes and Endocrinology26 citations Open access
Semantic Scholar
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants
T. C. Ofoegbu, A. David, L. Kelley, S. Mezulis +6 more
2019Journal of Molecular Biology26 citations Open access
Semantic Scholar
Missense3D-PPI: A Web Resource to Predict the Impact of Missense Variants at Protein Interfaces Using 3D Structural Data
Cecilia Pennica, Gordon Hanna, S. Islam, M. Sternberg +1 more
2023Journal of Molecular Biology23 citations Open access
Semantic Scholar
Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases
A. David, S. Rose, F. Miraki-Moud, L. Metherell +3 more
2010Hormone Research in Paediatrics23 citations Open access
Semantic Scholar
Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations
L. Metherell, J. Guerra-Assunção, M. Sternberg, A. David
2016Human Mutation17 citations Open access
Semantic Scholar
A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.
A. David, L. Kelley, M. Sternberg
2012Journal of Molecular Endocrinology16 citations Open access
Semantic Scholar
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein
Vandana Jain, L. Metherell, A. David, Rajni Sharma +3 more
2011European Journal of Endocrinology16 citations Open access
Semantic Scholar
Diagnostic and therapeutic advances in growth hormone insensitivity.
A. David, L. Metherell, A. Clark, C. Camacho-Hübner +1 more
2005Endocrinology and metabolism clinics of North America (Print)16 citations
Semantic Scholar
Protein structure-based evaluation of missense variants: Resources, challenges and future directions.
A. David, M. Sternberg
2023Current Opinion in Structural Biology15 citations Open access
Semantic Scholar
Properties of human genes guided by their enrichment in rare and common variants
Eman Alhuzimi, L. Leal, M. Sternberg, A. David
2017Human Mutation13 citations Open access
Semantic Scholar
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism
R. Salvatori, S. Radian, Y. Diekmann, D. Iacovazzo +22 more
2017European Journal of Endocrinology13 citations Open access
Semantic Scholar
Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types
A. Cornish, Ioannis Filippis, A. David, M. Sternberg
2015Genome Medicine13 citations Open access
Semantic Scholar
A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin
L. Leal, C. Hoggart, M. Jarvelin, K. Herzig +2 more
2020Molecular Genetics & Genomic Medicine12 citations Open access
Semantic Scholar
Missense3D-TM: Predicting the Effect of Missense Variants in Helical Transmembrane Protein Regions Using 3D Protein Structures
Gordon Hanna, Tarun Khanna, S. Islam, A. David +1 more
2023Journal of Molecular Biology11 citations Open access
Semantic Scholar
Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon.
A. David, U. Srirangalingam, L. Metherell, B. Khoo +1 more
2010Journal of Clinical Endocrinology and Metabolism11 citations Open access
Semantic Scholar
Structure, function and variants analysis of the androgen-regulated TMPRSS2, a drug target candidate for COVID-19 infection
A. David, Tarun Khanna, Melina Beykou, Gordon Hanna +1 more
2020bioRxiv10 citations Open access
Semantic Scholar
The effect of adjusting LDL-cholesterol for Lp(a)-cholesterol on the diagnosis of Familial Hypercholesterolaemia.
D. Thayabaran, A.P.T. Tsui, S. Ebmeier, J. Cegla +2 more
2023Journal of Clinical Lipidology9 citations Open access
Semantic Scholar
Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification
V. Lagou, Long-Da Jiang, Anna Ulrich, L. Zudina +87 more
2021medRxiv9 citations Open access
Semantic Scholar
Identification of disease-associated loci using machine learning for genotype and network data integration
L. Leal, A. David, Marjo-Riita Jarvelin, S. Sebert +5 more
2019Bioinform.9 citations Open access
Semantic Scholar
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders
Sirawit Ittisoponpisan, A. David
2018Journal of the Endocrine Society8 citations Open access
Semantic Scholar
GWYRE: A Resource for Mapping Variants onto Experimental and Modeled Structures of Human Protein Complexes
Sukhaswami B Malladi, Harold R. Powell, A. David, S. Islam +4 more
2022Journal of Molecular Biology7 citations Open access
Semantic Scholar
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty
T. Saengkaew, G. Ruiz-Babot, A. David, A. Mancini +6 more
2021npj Genomic Medicine7 citations Open access
Semantic Scholar
A common TMPRSS2 variant protects against severe COVID-19
A. David, N. Parkinson, T. Peacock, E. Pairo-Castineira +10 more
2021medRxiv5 citations Open access
Semantic Scholar
Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.
Martin O. Savagea, A. David, C. Camacho-Hübner, L. Metherell +1 more
2009Endocrine Development4 citations
Semantic Scholar
OR9,3 Acid-labile subunit gene mutations: clinical, biochemical and molecular study in two unrelated families
C. Camacho-Hubner, A. David, S. Rose, L. Metherell +2 more
20082 citations
Semantic Scholar
A new web resource to predict the impact of missense variants at protein interfaces using 3D structural data: Missense3D-PPI
Cecilia Pennica, Gordon Hanna, S. Islam, M. Sternberg +1 more
2023bioRxiv1 citations Open access
Semantic Scholar

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