Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy R Walsh, F Mazzarotto, N Whiffin, R Buchan, W Midwinter, A Wilk, N Li, ... Genome medicine 11, 1-18, 2019 | 115 | 2019 |
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies F Mazzarotto, MH Hawley, M Beltrami, L Beekman, A De Marvao, ... Genetics in Medicine 23 (5), 856-864, 2021 | 68 | 2021 |
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions X Zhang, R Walsh, N Whiffin, R Buchan, W Midwinter, A Wilk, R Govind, ... Genetics in Medicine 23 (1), 69-79, 2021 | 40 | 2021 |
NaNog: A pluripotency homeobox (master) molecule MH Allouba, AM ElGuindy, N Krishnamoorthy, MH Yacoub, YE Aguib Global Cardiology Science and Practice 2015 (3), 36, 2015 | 13 | 2015 |
An investigation of fibulin-2 in hypertrophic cardiomyopathy AM Ibrahim, M Roshdy, S Elshorbagy, M Hosny, S Halawa, D Yehia, ... International journal of molecular sciences 21 (19), 7176, 2020 | 8 | 2020 |
Reprogramming for cardiac regeneration CM Raynaud, FS Ahmad, M Allouba, H Abou-Saleh, KO Lui, M Yacoub Global Cardiology Science and Practice 2014 (3), 44, 2015 | 8 | 2015 |
New variant with a previously unrecognized mechanism of pathogenicity in hypertrophic cardiomyopathy Y Aguib, M Allouba, R Walsh, AM Ibrahim, S Halawa, A Afify, M Hosny, ... Circulation 144 (9), 754-757, 2021 | 7 | 2021 |
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy M Allouba, R Walsh, A Afify, M Hosny, S Halawa, A Galal, M Fathy, ... European heart journal 44 (48), 5146-5158, 2023 | 5 | 2023 |
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort Y Aguib, M Allouba, A Afify, S Halawa, M El-Khatib, M Sous, A Galal, ... NPJ Genomic Medicine 5 (1), 46, 2020 | 5 | 2020 |
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings KA McGurk, X Zhang, P Theotokis, K Thomson, A Harper, RJ Buchan, ... The American Journal of Human Genetics 110 (9), 1482-1495, 2023 | 3 | 2023 |
The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases F Mazzarotto, MH Hawley, M Beltrami, L Beekman, A de Marvao, ... medRxiv, 2020.01. 03.19015602, 2020 | 3 | 2020 |
Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity M Allouba, Y Aguib, R Walsh, A Afify, PI Theotokis, A Galal, S Halawa, ... medRxiv, 2020.03. 24.20037358, 2020 | 2 | 2020 |
Genomics of Egyptian Healthy Volunteers: The EHVol Study Y Aguib, M Allouba, A Afify, S Halawa, M ElKhateb, M Sous, A Galal, ... bioRxiv, 680520, 2019 | 2 | 2019 |
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies A Lipov, SJ Jurgens, F Mazzarotto, M Allouba, JP Pirruccello, Y Aguib, ... Nature Cardiovascular Research, 2023 | 1 | 2023 |
Loss-of-function variants in POPDC2 cause a novel autosomal recessive syndrome with sinus node disease and AV conduction defects in combination with hypertrophic cardiomyopathy M Nicastro, A Vermeer, P Postema, F Bowling, R Tadros, A Postma, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 58-59, 2024 | | 2024 |
Induced Pluripotent Stem Cell-Derived Cardiomyocytes Provide New Insights Of The Pathogenic Consequences Of The Novel Frameshift Variant (c. 5769delG) InMYH7 Gene S Elshorbagy, AM Ibrahim, F Mohamed, J Fourre, B Downing, M Osman, ... CIRCULATION RESEARCH 133, 2023 | | 2023 |
Abstract P2036: Induced Pluripotent Stem Cell-Derived Cardiomyocytes Provide New Insights Of The Pathogenic Consequences Of The Novel Frameshift Variant (c. 5769delG) In MYH7 Gene S Elshorbagy, AM Ibrahim, F Mohamed, J Fourre, B Downing, M Osman, ... Circulation Research 133 (Suppl_1), AP2036-AP2036, 2023 | | 2023 |
Transcriptome Signature of Cardiac Fibroblasts in HCM Patients Identifies Novel Drivers Of ECM Remodeling and Pro-Inflammatory Signaling AM Ibrahim, A Galal, S Halawa, H Elfawy, S Elshorbagy, M Roshdy, ... Circulation 146 (Suppl_1), A14969-A14969, 2022 | | 2022 |
Homozygosity predominantly affects hypertrophic cardiomyopathy minor genes in an Egyptian clinical cohort M Allouba, R Walsh, A Afify, S Halawa, A Galal, M Hosny, M Fathy, ... European Heart Journal 43 (Supplement_2), ehac544. 2880, 2022 | | 2022 |
Defining the genetic architecture of hypertrophic cardiomyopathy in Egypt M Allouba Imperial College London, 2020 | | 2020 |