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

Anne John · SciRah

Researcher profile · Semantic Scholar

Anne John

Share profile

Anne John — researcher profile on SciRah

h-index: 19
Works: 57
Citations: 1,040

Most-cited papers

DNA methylation and repressive H3K9 and H3K27 trimethylation in the promoter regions of PD-1, CTLA-4, TIM-3, LAG-3, TIGIT, and PD-L1 genes in human primary breast cancer
Varun Sasidharan Nair, Haytham El Salhat, Rowaida Z. Taha, Anne John +2 more
2018Clinical Epigenetics134 citations Open access
Semantic Scholar
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
Bassam R. Ali, Huifang Xu, Nadia A. Akawi, Anne John +4 more
2010Human Molecular Genetics82 citations Open access
Semantic Scholar
Associations of angiotensinogen gene mutations with hypertension and myocardial infarction in a gulf population
P. M. Frossard, Susan H. Hill, Yassin I. Elshahat, E. N. Obineche +4 more
1998Clinical Genetics52 citations
Semantic Scholar
Characterization of a peptide from skin secretions of male specimens of the frog, Leptodactylus fallax that stimulates aggression in male frogs.
Jay D. King, Louise A. Rollins-Smith, P. F. Nielsen, Anne John +1 more
2005Peptides49 citations
Semantic Scholar
An MboI two-allele polymorphism may implicate the human renin gene in primary hypertension.
P. M. Frossard, Gilles G. Lestringant, Yassin I. Elshahat, Anne John +1 more
1998Hypertension Research49 citations Open access
Semantic Scholar
A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy
S. Ben-Salem, A. Al Shamsi, Anne John, Bassam R. Ali +1 more
2014Journal of Molecular Neuroscience43 citations
Semantic Scholar
Expression of Epstein–Barr virus in Hodgkin lymphoma in a population of United Arab Emirates nationals
S. Al-Salam, Anne John, S. Daoud, S. Chong +1 more
2008Leukemia and Lymphoma39 citations
Semantic Scholar
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
Alistair N. Hume, Jens Buttgereit, Aydah M. Al-Awadhi, Sarah S. Al-Suwaidi +5 more
2008Human Molecular Genetics37 citations Open access
Semantic Scholar
Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia
Bassam R. Ali, I. Ben-Rebeh, Anne John, Nadia A. Akawi +5 more
2011PLoS ONE36 citations Open access
Semantic Scholar
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
A. Alkindi, Praseetha Kizhakkedath, Huifang Xu, Anne John +7 more
2014BMC Medical Genetics32 citations Open access
Semantic Scholar
Cost-effectiveness analysis of pharmacogenomics-guided clopidogrel treatment in Spanish patients undergoing percutaneous coronary intervention
V. Fragoulakis, M. Bartsakoulia, X. Díaz-Villamarín, Konstantina Chalikiopoulou +14 more
2019The Pharmacogenomics Journal26 citations
Semantic Scholar
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia
Praseetha Kizhakkedath, Anne John, Buthaina K. Al‐Sawafi, L. Al-Gazali +1 more
2019FEBS Open Bio25 citations Open access
Semantic Scholar
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family
M. Komara, Anne John, J. Suleiman, Bassam R. Ali +1 more
2016American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.
Anne John, Praseetha Kizhakkedath, L. Al-Gazali, Bassam R. Ali
2015Gene23 citations
Semantic Scholar
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients
K. Mitropoulos, Eleni Merkouri Papadima, G. Xiromerisiou, A. Balasopoulou +29 more
2017Human Genomics22 citations Open access
Semantic Scholar
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Nadia A. Akawi, S. Ben-Salem, J. Hertecant, Anne John +4 more
2016Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations
Alistair N. Hume, Anne John, Nadia A. Akawi, Aydah M. Al-Awadhi +3 more
2012Molecular and Cellular Biochemistry22 citations
Semantic Scholar
Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis
Mohammad M Al-Ahmad, N. Amir, S. Dhanasekaran, Anne John +3 more
2017PLoS ONE20 citations Open access
Semantic Scholar
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss
Nesrin Gariballa, A. Ben-Mahmoud, M. Komara, A. Al Shamsi +3 more
2017American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus
Nesreen K Al-Jezawi, A. Al Shamsi, J. Suleiman, S. Ben-Salem +4 more
2018BMC Medical Genetics18 citations Open access
Semantic Scholar
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder
H. A. Abdelrahman, A. Al Shamsi, Anne John, Bassam R. Ali +1 more
2019Child Neurology Open16 citations Open access
Semantic Scholar
A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations
A. Ben-Mahmoud, S. Ben-Salem, M. Al-Sorkhy, Anne John +2 more
2018Clinical Genetics16 citations
Semantic Scholar
Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings
S. Ben-Salem, N. Sobreira, Nadia A. Akawi, A. Al Shamsi +5 more
2015American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study
Alexandra Kolliopoulou, Stavroula Siamoglou, Anne John, Argyro Sgourou +9 more
2019Hemoglobin14 citations
Semantic Scholar
Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy.
A. Gravia, V. Chondrou, Alexandra Kolliopoulou, A. Kourakli +7 more
2016Pharmacogenomics (London)14 citations
Semantic Scholar
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.
Praseetha Kizhakkedath, A. Loregger, Anne John, Boris Bleijlevens +6 more
2014Biochimica et Biophysica Acta14 citations Open access
Semantic Scholar
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome
Praseetha Kizhakkedath, Anne John, L. Al-Gazali, Bassam R. Ali
2018Scientific Reports13 citations Open access
Semantic Scholar
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
S. Ben-Salem, Sarah M. Robbins, N. Sobreira, A. Lyon +9 more
2017Journal of Medical Genetics12 citations Open access
Semantic Scholar
Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients
V. Chondrou, Petros Kolovos, Argyro Sgourou, A. Kourakli +8 more
2017Human Genomics12 citations Open access
Semantic Scholar
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.
S. Shawar, A. Ramadan, Bassam R. Ali, Manal Alghamdi +2 more
2016Bone12 citations
Semantic Scholar
Novel genetic risk variants for pediatric celiac disease
A. Balasopoulou, B. Stanković, Angeliki Panagiotara, G. Nikčević +25 more
2016Human Genomics11 citations Open access
Semantic Scholar
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Sally Badawi, Fedah E. Mohamed, Nesreen R. Alkhofash, Anne John +2 more
2022Human Genomics10 citations Open access
Semantic Scholar
A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family
H. A. Abdelrahman, A. Al Shamsi, Anne John, J. Hertecant +3 more
2018American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Studies on N‐Acetyltransferase (NAT2) Genotype Relationships in Emiratis: Confirmation of the Existence of Phenotype Variation among Slow Acetylators
Mohammad M Al-Ahmad, N. Amir, S. Dhanasekaran, Anne John +3 more
2017Annals of Human Genetics10 citations
Semantic Scholar
Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients.
Constantina Chalikiopoulou, A. Tavianatou, Argyro Sgourou, A. Kourakli +11 more
2016Pharmacogenomics (London)10 citations
Semantic Scholar
Spectrum of genetic variants in bilateral sensorineural hearing loss
Amanat Ali, Mohammed Tabouni, Praseetha Kizhakkedath, I. Baydoun +6 more
2024Frontiers in Genetics9 citations Open access
Semantic Scholar
GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model
Divya Saro Varghese, Deepu Oommen, Anne John, Bassam R. Ali
2023Lipids in Health and Disease9 citations Open access
Semantic Scholar
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON
H. A. Abdelrahman, Anne John, Bassam R. Ali, L. Al-Gazali
2019Molecular Syndromology8 citations Open access
Semantic Scholar
Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature
Sally Badawi, Divya Saro Varghese, Anjana Raj, Anne John +6 more
2023Frontiers in Cell and Developmental Biology7 citations Open access
Semantic Scholar
Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways
Nesrin Gariballa, Praseetha Kizhakkedath, Nadia A. Akawi, Anne John +1 more
2022Frontiers in Molecular Biosciences6 citations Open access
Semantic Scholar
Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization
Aseel A. Jawabri, Anne John, Mohammad A. Ghattas, Radwa E. Mahgoub +5 more
2024Frontiers in Cell and Developmental Biology5 citations Open access
Semantic Scholar
Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive
H. A. Abdelrahman, Nadia A. Akawi, A. Al Shamsi, Amanat Ali +5 more
2022Clinical Genetics5 citations
Semantic Scholar
Impact of CYP3A4 and ABCB1 genetic variants on tacrolimus dosing in Greek kidney transplant recipients
A. Tsironi, Konstantinos Lazaros, E. Mendrinou, M. Papasotiriou +8 more
2025Frontiers in Pharmacology4 citations Open access
Semantic Scholar
Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
Praseetha Kizhakkedath, Watfa S. Aldhaheri, I. Baydoun, Mohammed Tabouni +5 more
2023Frontiers in Genetics4 citations Open access
Semantic Scholar
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis
Fedah E. Mohamed, Mohammad A. Ghattas, T. Almansoori, Mohammed Tabouni +6 more
2023Frontiers in Pediatrics4 citations Open access
Semantic Scholar
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features
Elif Yilmaz Gulec, Bassam R. Ali, Anne John, B. Tuysuz
2021Molecular Syndromology4 citations Open access
Semantic Scholar
Multiomics Analysis Coupled with Text Mining Identify Novel Biomarker Candidates for Recurrent Cardiovascular Events
Constantina Chalikiopoulou, B. Bizjan, G. Leventopoulos, K. Smaili +9 more
2020Omics4 citations Open access
Semantic Scholar
Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients
Ouliana Ivantsik, Anne John, K. Kydonopoulou, K. Mitropoulos +3 more
2024Genes3 citations Open access
Semantic Scholar
Genomic variants in members of the Krüppel-like factor gene family are associated with disease severity and hydroxyurea treatment efficacy in β-hemoglobinopathies patients.
Apostolos Stratopoulos, Alexandra Kolliopoulou, K. Karamperis, Anne John +14 more
2019Pharmacogenomics (London)3 citations
Semantic Scholar
Allele and genotype frequencies of the two single nucleotide polymorphisms in the VKORC1 gene that are most important for warfarin treatment among Emiratis
Hayat S. Al-Jaibeji, Anne John, L. Al-Gazali, Karem Soliman +5 more
20163 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

Bassam R. Ali×36
Invite
Bassam R. Ali — researcher profile on SciRah
L. Al-Gazali×22
Invite
L. Al-Gazali — researcher profile on SciRah
G. Patrinos×12
Invite
G. Patrinos — researcher profile on SciRah
Praseetha Kizhakkedath×10
Invite
Praseetha Kizhakkedath — researcher profile on SciRah

×10

Invite

T. Katsila — researcher profile on SciRah

Nadia A. Akawi×8

Invite

Nadia A. Akawi — researcher profile on SciRah

A. Al Shamsi×8

Invite

A. Al Shamsi — researcher profile on SciRah

S. Ben-Salem×6

Invite

S. Ben-Salem — researcher profile on SciRah

Argyro Sgourou×5

Invite

Argyro Sgourou — researcher profile on SciRah

Invite

A. Kourakli — researcher profile on SciRah

Adamantia Papachatzopoulou×5

Invite

Adamantia Papachatzopoulou — researcher profile on SciRah

K. Kydonopoulou×4

Invite

K. Kydonopoulou — researcher profile on SciRah