Ahmad Al Khleifat

2024

C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds

Ryan, M., Doherty, M. A., Al Khleifat, A., Costello, E., Hengeveld, J. C., Heverin, M., Al-Chalabi, A., McLaughlin, R. L. & Hardiman, O., Feb 2024, In: Neurology. Genetics. 10, 1, e200112.

Research output: Contribution to journal › Article › peer-review

Open Access

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1 Citation (Scopus)

45 Downloads (Pure)

Harnessing transcriptomic signals for amyotrophic lateral sclerosis to identify novel drugs and enhance risk prediction

Pain, O., Jones, A., Al Khleifat, A., Agarwal, D., Hramyka, D., Karoui, H., Kubica, J., Llewellyn, D. J., Ranson, J. M., Yao, Z., Iacoangeli, A. & Al-Chalabi, A., 15 Aug 2024, In: Heliyon. 10, 15, e35342.

Research output: Contribution to journal › Article › peer-review

Open Access

Investigating the socioeconomic status impact on amyotrophic lateral sclerosis

Shojaie, A., Al Khleifat, A., Garrahy, S., Habash-Bailey, H., Thomson, R., Martin, S., Javidnia, S., Nigel Leigh, P. & Al-Chalabi, A., 2 Sept 2024, In: Amyotrophic lateral sclerosis & frontotemporal degeneration.

Research output: Contribution to journal › Article › peer-review

Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

Project MinE ALS Sequencing Consortium, Jul 2024, In: Annals of Clinical and Translational Neurology. 11, 7, p. 1775-1786 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

predicTTE: An accessible and optimal tool for time-to-event prediction in neurological diseases

Weinreich, M., McDonough, H., Yacovzada, N., Magen, I., Cohen, Y., Harvey, C., Gornall, S., Boddy, S., Alix, J., Mohseni, N., Kurz, J. M., Kenna, K. P., Zhang, S., Iacoangeli, A., Al-Khleifat, A., Snyder, M. P., Hobson, E., Al-Chalabi, A., Hornstein, E., Elhaik, E., & 3 othersShaw, P. J., McDermott, C. & Cooper-Knock, J., 23 Jul 2024, (bioRxiv : the preprint server for biology).

Research output: Working paper/Preprint › Preprint

Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

Project MinE ALS Sequencing Consortium, 15 Feb 2024, In: Heliyon. 10, 3, e24975.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Sex-specific risk loci and modified MEF2C expression in ALS

Byrne, R. P., van Rheenen, W., Gomes, T., Al Khleifat, A., Iacoangeli, A., Al-Chalabi, A., Veldink, J. & Maclaughlin, R., 27 May 2024.

Research output: Working paper/Preprint › Preprint

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12 Downloads (Pure)

2023

Analysis of non-motor symptoms in amyotrophic lateral sclerosis

Shojaie, A., Al Khleifat, A., Sarraf, P. & Al-Chalabi, A., 19 Nov 2023, In: Amyotrophic lateral sclerosis & frontotemporal degeneration.

Research output: Contribution to journal › Article › peer-review

Open Access

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1 Citation (Scopus)

103 Downloads (Pure)

Artificial intelligence for biomarker discovery in Alzheimer's disease and dementia

Winchester, L. M., Harshfield, E. L., Shi, L., Badhwar, A., Khleifat, A. A., Clarke, N., Dehsarvi, A., Lengyel, I., Lourida, I., Madan, C. R., Marzi, S. J., Proitsi, P., Rajkumar, A. P., Rittman, T., Silajdžić, E., Tamburin, S., Ranson, J. M. & Llewellyn, D. J., Dec 2023, In: Alzheimer's & Dementia. 19, 12, p. 5860-5871 12 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

25 Citations (Scopus)

Artificial intelligence for biomarker discovery in Alzheimer’s disease and dementia

Winchester, L. M., Harshfield, E., Shi, L., Badhwar, A., Al Khleifat, A., Clarke, N., Dehsarvi, A., Lengyel, I., Lourida, I., Madan, C. R., Marzi, S., Proitsi, P., Rajamani, A. P. R., Rittman, T., Silajdzic, E., Tamburin, S., Ranson, J. M. & Llewellyn, D. J., 1 Sept 2023, In: Alzheimer's Dementia: The Journal of the Alzheimer's Association.

Research output: Contribution to journal › Review article › peer-review

Open Access

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Artificial intelligence for dementia drug discovery and trials optimization

Doherty, T., Yao, Z., Al Khleifat, A., Tantiangco, H. M., Tamburin, S., Albertyn, C., Llewellyn, D. J., Oxtoby, N. P., Ranson, J. M. & Duce, J., 17 Aug 2023, In: Alzheimer's Dementia: The Journal of the Alzheimer's Association. 19, 12, p. 5922-5933 12 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

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6 Citations (Scopus)

214 Downloads (Pure)

Artificial intelligence for dementia genetics and omics

Bettencourt, C., Skene, N. G., Bandres-Ciga, S., Anderson, E., Winchester, L. M., Foote, I. F., Schwartzentruber, J., Botia, J. A., Nalls, M. A., Singleton, A., Schilder, B. M., Humphrey, J., Marzi, S., Al Khleifat, A., Toomey, C. E., Harshfield, E., Garfield, V., Sandor, C., Keating, S., Tamburin, S., & 4 othersSala Frigerio, C., Lourida, I., Ranson, J. M. & Llewellyn, D. J., 18 Jul 2023, In: Alzheimer's Dementia: The Journal of the Alzheimer's Association.

Research output: Contribution to journal › Review article › peer-review

Open Access

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Artificial intelligence for dementia research methods optimization

Deep Dementia Phenotyping (DEMON) Network, Bucholc, M., James, C., Khleifat, A. A., Badhwar, A., Clarke, N., Dehsarvi, A., Madan, C. R., Marzi, S. J., Shand, C., Schilder, B. M., Tamburin, S., Tantiangco, H. M., Lourida, I., Llewellyn, D. J. & Ranson, J. M., Dec 2023, In: Alzheimer's & Dementia. 19, 12, p. 5934-5951 18 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

11 Citations (Scopus)

Artificial Intelligence for Dementia Research Methods Optimization

Bucholc, M., James, C., Khleifat, A. A., Badhwar, A., Clarke, N., Dehsarvi, A., Madan, C. R., Marzi, S. J., Shand, C., Schilder, B. M., Tamburin, S., Tantiangco, H. M., Lourida, I., Llewellyn, D. J. & Ranson, J. M., 28 Aug 2023, (Accepted/In press) In: Alzheimer's Dementia: The Journal of the Alzheimer's Association.

Research output: Contribution to journal › Article › peer-review

Open Access

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DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data

Marriott, H., Kabiljo, R., Al Khleifat, A., Dobson, R., Al-Chalabi, A. & Iacoangeli, A., 3 Apr 2023, In: BIOINFORMATICS. 39, 4, btad152.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Epidemiological and clinical profile of amyotrophic lateral sclerosis in Ethiopia: a 5-year multicenter retrospective study

Melka, D., Demisse, H., Assefa, H., Zenebe, Y., A. ayele, B., Awraris, M., Gelan, Y., Kifelew, S., Fedlu, M., Tsehayneh, F., Zebenigus, M., Alemayehu, S., Tesfaye, H., Gulelat, H., Guta, T., Tafesse, A., Bekele, N., Saez, M., Veldink, J. H., Al-Chalabi, A., & 2 othersPovedano, M. & Al khleifat, A., 2023, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 24, 7-8, p. 678-686 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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1 Citation (Scopus)

117 Downloads (Pure)

Harnessing the potential of machine learning and artificial intelligence for dementia research

Ranson, J. M., Bucholc, M., Lyall, D., Newby, D., Winchester, L., Oxtoby, N. P., Veldsman, M., Rittman, T., Marzi, S., Skene, N., Al Khleifat, A., Foote, I. F., Orgeta, V., Kormilitzin, A., Lourida, I. & Llewellyn, D. J., Dec 2023, In: Brain Informatics. 10, 1, 6.

Research output: Contribution to journal › Review article › peer-review

Open Access

8 Citations (Scopus)

Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Adey, B. N., Cooper-Knock, J., Al Khleifat, A., Fogh, I., van Damme, P., Corcia, P., Couratier, P., Hardiman, O., McLaughlin, R., Gotkine, M., Drory, V., Silani, V., Ticozzi, N., Veldink, J. H., van den Berg, L. H., de Carvalho, M., Pinto, S., Mora Pardina, J. S., Povedano Panades, M., Andersen, P. M., & 13 othersWeber, M., Başak, N. A., Shaw, C. E., Shaw, P. J., Morrison, K. E., Landers, J. E., Glass, J. D., Vourc’h, P., Dobson, R. J. B., Breen, G., Al-Chalabi, A., Jones, A. R. & Iacoangeli, A., 2023, In: Frontiers in cellular neuroscience. 17, 1112405.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

Kalia, M., Miotto, M., Ness, D., Opie-Martin, S., Spargo, T. P., Di Rienzo, L., Biagini, T., Petrizzelli, F., Al Khleifat, A., Kabiljo, R., Project MinE ALS Sequencing Consortium, SOD1-ALS clinical and genetic data collection group, Mazza, T., Ruocco, G., Milanetti, E., Dobson, R. JB., Al-Chalabi, A. & Iacoangeli, A., 2023, In: Computational and Structural Biotechnology Journal. 21, p. 5296-5308 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Non-motor symptoms in amyotrophic lateral sclerosis

Shojaie, A., Al Khleifat, A., Opie-Martin, S., Sarraf, P. & Al-Chalabi, A., 5 Oct 2023, In: Amyotrophic lateral sclerosis & frontotemporal degeneration.

Research output: Contribution to journal › Article › peer-review

Open Access

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8 Citations (Scopus)

49 Downloads (Pure)

Non-motor symptoms in amyotrophic lateral sclerosis: lessons from Parkinson’s disease

Shojaie, A., Rota, S., Al Khleifat, A., Chaudhuri, K. & Al-Chalabi, A., 22 Jun 2023, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 24, 7-8, p. 562-571 10 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

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6 Citations (Scopus)

413 Downloads (Pure)

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis

Spargo, T., Martin, S., Hunt, G., Kalia, M., Al Khleifat, A., Topp, S., Shaw, C., Al-Chalabi, A. & Iacoangeli, A., 2023, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 24, 7-8, p. 736-745 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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2 Citations (Scopus)

64 Downloads (Pure)

Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data

Marriott, H., Kabiljo, R., Hunt, G., Al Khleifat, A., Jones, A., Troakes, C., Dobson, R., Al-Chalabi, A. & Iacoangeli, A., 21 Dec 2023, In: Acta Neuropathologica Communications. 11, 1, 208.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Citations (Scopus)

VariantSurvival: A tool to identify genotype-treatment response

Krannich, T., Sarrias, M., Ben Aribi, H., Shokrof, M., Iacoangeli, A., J Sedlazeck, F., Al-Chalabi, A., Busby, B. & Al Khleifat, A., 11 Oct 2023, In: Frontiers in Bioinformatics. 3, 1277923.

Research output: Contribution to journal › Article › peer-review

Open Access

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2022

An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data

Iacoangeli, A. & Al Khleifat, A., 8 Dec 2022, (Accepted/In press) In: Frontiers in Bioinformatics - Computational Bioimaging.

Research output: Contribution to journal › Article › peer-review

Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis

Savage, A. L., Iacoangeli, A., Schumann, G. G., Rubio-Roldan, A., Garcia-Perez, J. L., Al Khleifat, A., Koks, S., Bubb, V. J., Al-Chalabi, A. & Quinn, J. P., 15 Nov 2022, In: Gene. 843, 146799.

Research output: Contribution to journal › Article › peer-review

Open Access

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4 Citations (Scopus)

132 Downloads (Pure)

Comparison of Kings clinical staging in multinational ALS cohorts

Balendra, R., Al Khleifat, A., Jones, A., Chiwera, T., Wicks, P., Young, C. A., Shaw, P. J., Turner, M. R., Nigel Leigh, P. & Al-Chalabi, A., 18 Jun 2022, In: Amyotrophic lateral sclerosis & frontotemporal degeneration.

Research output: Contribution to journal › Article › peer-review

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Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts

Balendra, R., Jones, A. R., Al Khleifat, A., Chiwera, T., Wicks, P., Young, C. A., Shaw, P. J., Turner, M. R., Leigh, P. N. & Al-Chalabi, A., 19 Jul 2022, (E-pub ahead of print) In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration .

Research output: Contribution to journal › Article › peer-review

Open Access

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1 Citation (Scopus)

54 Downloads (Pure)

Exploring the use of synthetic placebo populations in ALS randomized clinical trials

Bowles, H., Opie-Martina, S., Shojaiea, A., Libonatib, L., Iacoangelia, A. & Al Khleifat, A., 2022.

Research output: Working paper/Preprint › Preprint

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

BIOS Consortium, Brain MEND Consortium, Hop, P. J., Zwamborn, R. A. J., Hannon, E., Shireby, G. L., Nabais, M. F., Walker, E. M., van Rheenen, W., van Vugt, J. J. F. A., Dekker, A. M., Westeneng, H. J., Tazelaar, G. H. P., van Eijk, K. R., Moisse, M., Baird, D., Al Khleifat, A., Iacoangeli, A., Ticozzi, N., Ratti, A., & 32 othersCooper-Knock, J., Morrison, K. E., Shaw, P. J., Basak, A. N., Chiò, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Grassano, M., Gotkine, M., Lerner, Y., Zabari, M., Vourc'H, P., Corcia, P., Couratier, P., Mora Pardina, J. S., Salas, T., Dion, P., Ross, J. P., Henderson, R. D., Mathers, S., McCombe, P. A., Needham, M., Nicholson, G., Rowe, D. B., Pamphlett, R., Mather, K. A., Sachdev, P. S., Furlong, S., Shaw, C. E. & Al-Chalabi, A., 23 Feb 2022, In: Science Translational Medicine. 14, 633, eabj0264.

Research output: Contribution to journal › Review article › peer-review

Open Access

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46 Citations (Scopus)

425 Downloads (Pure)

RetroSnake: a Modular Pipeline for Detection of Human Endogenous Retroviruses in Genome Sequencing data

Kabiljo, R., Bowles, H., Marriott, H., Jones, A. R., Bouton, C. R., Dobson, R. JB., Quinn, J. P., Al Khleifat, A., Swanson, C. M., Al-Chalabi, A. & Iacoangeli, A., 4 Oct 2022, (Accepted/In press) In: iScience. p. 105289

Research output: Contribution to journal › Article › peer-review

Open Access

RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data

Kabiljo, R., Bowles, H., Swanson, C., Dobson, R., Al Khleifat, A., Marriott, H., Jones, A., Bouton, C., Quinn, J., Al-Chalabi, A. & Iacoangeli, A., 18 Nov 2022, In: iScience. 25, 11, 105289.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Al Khleifat, A., Iacoangeli, A., Jones, A., van Vugt, J., Shatunov, A., Moisse, M., Shatunov, A., Zwamborn, R. A. J., van der Spek, R., Cooper-Knock, J., Topp, S., van Rheenen, W., Kenna, B. J., van Eijk, K. R., Kenna, K. P., Byrne, R. P., López Alonso, V., Opie-Martin, S., Vural, A., González, Y., & 25 othersWeber, M., Smith, B., Fogh, I., Silani, V., Morrison, K. E., Dobson, R., van Es, M. A., McLaughlin, R. L., Chio, A., Corcia, P., de Carvalho, M., Gotkine, M., Panades, M. P., Mora, J. S., Shaw, P. J., Landers, J. E., Glass, J. D., Shaw, C., Başak, A. N., Hardiman, O., Robberecht, W., Van Damme, P., van den Berg, L., Veldink, J. & Al-Chalabi, A., 15 Nov 2022, In: Frontiers in cellular neuroscience.

Research output: Contribution to journal › Article › peer-review

Open Access

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3 Citations (Scopus)

72 Downloads (Pure)

The Deep Dementia Phenotyping (DEMON) Network: A global platform for innovation using data science and artificial intelligence

Ranson, J. M., Khleifat, A. A., Lyall, D. M., Newby, D., Winchester, L. M., Proitsi, P., Veldsman, M., Rittman, T., Marzi, S., Yao, Z., Skene, N., Bettencourt, C., Kormilitzin, A., Foote, I. F., Golborne, C., Lourida, I., Bucholc, M., Tang, E., Oxtoby, N. P., Bagshaw, P., & 8 othersWalker, Z., Everson, R., Ballard, C. G., Van duijn, C. M., Langa, K. M., Macleod, M., Rockwood, K. & Llewellyn, D. J., 1 Dec 2022, In: Alzheimer's & Dementia. 18, S2

Research output: Contribution to journal › Article › peer-review

The Emerging Role of AI in Dementia Research and Healthcare

Ranson, J., Bucholc, M., Lyall, D. M., Newby, D., Oxtoby, N. P., Winchester, L. M., Veldsman, M., Rittman, T., Marzi, S., Skene, N. G., Al Khleifat, A., Foote, I., Orgeta, V., Kormilitzin, A. & Llewellyn, D. J., 26 Oct 2022, Artificial Intelligence in Medicine: Chapter: The Emerging Role of AI in Dementia Research and Healthcare. Springer, p. 95-106

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Open Access

The impact of age on genetic testing decisions in amyotrophic lateral sclerosis

Project MinE ALS Sequencing Consortium, Mehta, P. R., Iacoangeli, A., Opie-Martin, S., van Vugt, J. J. F. A., Al Khleifat, A., Bredin, A., Ossher, L., Andersen, P. M., Hardiman, O., Mehta, A. R., Fratta, P., Talbot, K. & Al-Chalabi, A., 27 Sept 2022, (E-pub ahead of print) In: Brain : a journal of neurology. awac279.

Research output: Contribution to journal › Article › peer-review

Open Access

21 Citations (Scopus)

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Opie-Martin, S., Iacoangeli, A., Topp, S. D., Abel, O., Mayl, K., Mehta, P. R., Shatunov, A., Fogh, I., Bowles, H., Limbachiya, N., Spargo, T. P., Al-Khleifat, A., Williams, K. L., Jockel-Balsarotti, J., Bali, T., Self, W., Henden, L., Nicholson, G. A., Ticozzi, N., McKenna-Yasek, D., & 29 othersTang, L., Shaw, P. J., Chio, A., Ludolph, A., Weishaupt, J. H., Landers, J. E., Glass, J. D., Mora, J. S., Robberecht, W., Damme, P. V., McLaughlin, R., Hardiman, O., van den Berg, L., Veldink, J. H., Corcia, P., Stevic, Z., Siddique, N., Silani, V., Blair, I. P., Fan, D. S., Esselin, F., de la Cruz, E., Camu, W., Basak, N. A., Siddique, T., Miller, T., Brown, R. H., Al-Chalabi, A. & Shaw, C. E., Dec 2022, In: Nature Communications. 13, 1, 6901.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Citations (Scopus)

The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms

Al Khleifat, A., 2022, In: F1000Research.

Research output: Contribution to journal › Article › peer-review

File

2 Citations (Scopus)

58 Downloads (Pure)

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS

Project MinE ALS Sequencing Consortium, NYGC ALS Consortium, Eitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., Rivkin, N., Yacovzada, N. S., Hung, S. T., Cooper-Knock, J., Yu, C. H., Louis, C., Masters, S. L., Kenna, K. P., & 26 othersvan der Spek, R. A. A., Sproviero, W., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Jones, A. R., Elbaz-Alon, Y., Cohen, Y., Chapnik, E., Rothschild, D., Weissbrod, O., Beck, G., Ainbinder, E., Ben-Dor, S., Werneburg, S., Schafer, D. P., Brown, R. H., Shaw, P. J., Van Damme, P., van den Berg, L. H., Phatnani, H., Segal, E., Ichida, J. K., Al-Chalabi, A., Veldink, J. H. & Hornstein, E., 1 Apr 2022, In: Nature Neuroscience. 25, 4, p. 433-445 13 p.

Research output: Contribution to journal › Article › peer-review

21 Citations (Scopus)

2021

A multicentre validation study of the diagnostic value of plasma neurofilament light

Ashton, N. J., Janelidze, S., Al Khleifat, A., Leuzy, A., van der Ende, E. L., Karikari, T. K., Benedet, A. L., Pascoal, T. A., Lleó, A., Parnetti, L., Galimberti, D., Bonanni, L., Pilotto, A., Padovani, A., Lycke, J., Novakova, L., Axelsson, M., Velayudhan, L., Rabinovici, G. D., Miller, B., & 21 othersPariante, C., Nikkheslat, N., Resnick, S. M., Thambisetty, M., Schöll, M., Fernández-Eulate, G., Gil-Bea, F. J., López de Munain, A., Al-Chalabi, A., Rosa-Neto, P., Strydom, A., Svenningsson, P., Stomrud, E., Santillo, A., Aarsland, D., van Swieten, J. C., Palmqvist, S., Zetterberg, H., Blennow, K., Hye, A. & Hansson, O., 7 Jun 2021, In: Nature Communications. 12, 1, 3400.

Research output: Contribution to journal › Article › peer-review

Open Access

267 Citations (Scopus)

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

Mc Cartney, A. M., Hefferon, T., Busby, B., J Sedlazeck, F., Mahmoud, M., Jochum, M., Agustinho, D. P., Zorman, B., Al Khleifat, A., Dabbaghie, F., K Kesharwani, R., Smolka, M., Dawood, M., Albin, D., Aliyev, E., Almabrazi, H., Arslan, A., Balaji, A., Behera, S., Billingsley, K., & 42 othersL Cameron, D., Daw, J., T. Dawson, E., De Coster, W., Du, H., Dunn, C., Esteban, R., Jolly, A., Kalra, D., Liao, C., Liu, Y., Lu, T. Y., M Havrilla, J., M Khayat, M., Marin, M., Monlong, J., Price, S., Rafael Gener, A., Ren, J., Sagayaradj, S., Sapoval, N., Sinner, C., C. Soto, D., Soylev, A., Subramaniyan, A., Syed, N., Tadimeti, N., Tater, P., Vats, P., Vaughn, J., Walker, K., Wang, G., Zeng, Q., Zhang, S., Zhao, T., Kille, B., Biederstedt, E., Chaisson, M., English, A., Kronenberg, Z., J. Treangen, T. & Chin, C. S., 2021, In: F1000Research. 10, 1 p., 246.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., & 277 othersGellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., Van Den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M. G., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mora, G., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Lauria, G., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mora, G., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M. & Zucchi, E., Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

Research output: Contribution to journal › Article › peer-review

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49 Citations (Scopus)

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H. J., Bakker, O. B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., & 34 othersDekker, A. M., Gawor, K., Westeneng, H. J., Tazelaar, G. H. P., van Eijk, K. R., Kooyman, M., Byrne, R. P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B. N., Gromicho, M., Chandran, S., Pal, S., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Sendtner, M., Meyer, T., Başak, N., van der Kooi, A. J., Ratti, A., Fogh, I., Wood, N. W., Topp, S., Curtis, C. J., Breen, G., Shaw, C. E. & Al-Chalabi, A., Dec 2021, In: Nature genetics. 53, 12, p. 1636-1648 13 p.

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228 Citations (Scopus)

Does genetic anticipation occur in familial Alexander disease?

Hunt, C. K., Al Khleifat, A., burchill, E., Ederle, J., Al-Chalabi, A. & Sreedharan, J., Jul 2021, In: NEUROGENETICS. 22, 3, p. 215-219 5 p.

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3 Citations (Scopus)

120 Downloads (Pure)

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

BIOS Consortium, Min, J. L., Hemani, G., Hannon, E., Dekkers, K. F., Castillo-Fernandez, J., Luijk, R., Carnero-Montoro, E., Lawson, D. J., Burrows, K., Suderman, M., Bretherick, A. D., Richardson, T. G., Klughammer, J., Iotchkova, V., Sharp, G., Al Khleifat, A., Shatunov, A., Iacoangeli, A., McArdle, W. L., & 31 othersHo, K. M., Kumar, A., Söderhäll, C., Soriano-Tárraga, C., Giralt-Steinhauer, E., Kazmi, N., Mason, D., McRae, A. F., Corcoran, D. L., Sugden, K., Kasela, S., Cardona, A., Day, F. R., Cugliari, G., Viberti, C., Guarrera, S., Lerro, M., Gupta, R., Bollepalli, S., Mandaviya, P., Zeng, Y., Clarke, T. K., Walker, R. M., Schmoll, V., Yet, I., Al Chalabi, A., Caspi, A., Arseneault, L., Spector, T. D., Schalkwyk, L. C. & Bell, J. T., Sept 2021, In: Nature Genetics. 53, 9, p. 1311-1321 11 p.

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201 Citations (Scopus)

SCFD1 expression Quantitative Trait Loci in Amyotrophic Lateral Sclerosis are differentially expressed Short title: SCFD1 expression quantitative loci in ALS

Iacoangeli, A., Fogh, I., Selvackadunco, S., Topp, S., Shatunov, A., van Rheenen, W., Al Khleifat, A., Martin, S., Ratti, A., Chio, A., Dobson, R., Hardiman, O., Shaw, C., van den Berg, L. H., Smith, B., Veldink, J., Breen, G., Troakes, C., Al-Chalabi, A. & Jones, A., 7 Oct 2021, In: Brain Communications.

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SnpReportR: A Tool for Clinical Reporting of RNAseq Expression and Variants

Al Khleifat, A., 29 Jun 2021, In: BioHackrXiv.

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Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Al Khleifat, A., Iacoangeli, A., Van Vugt, J. J. F. A., Bowles, H., Zwamborn, R. A. J., Moisse, M., Zwamborn, R. A. J., Cooper-Knock, J., Shatunov, A., Jones, A., van Rheenen, W., Opie-Martin, S., Fogh, I., Topp, S., Smith, B., Dobson, R., Shaw, C., Chiò, A., Panades, M. P., Mora, J. S., & 10 othersShaw, P. J., Landers, J. E., Glass, J. D., Başak, A. N., Hardiman, O., Robberecht, W., Van Damme, P., van den Berg, L. H., Veldink, J. H. & Al-Chalabi, A., 19 Oct 2021, In: NPJ Genomic medicine.

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2020

Cross-reactive probes on Illumina DNA methylation arrays: A large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

Hop, P. J., Zwamborn, R. A. J., Hannon, E. J., Dekker, A. M., van Eijk, K. R., Walker, E. M., Iacoangeli, A., Jones, A. R., Shatunov, A., Khleifat, A. A., Opie-Martin, S., Shaw, C. E., Morrison, K. E., Shaw, P. J., McLaughlin, R. L., Hardiman, O., Al-Chalabi, A., van Den Berg, L. H., Mill, J. & Veldink, J. H., 1 Dec 2020, In: NAR Genomics and Bioinformatics. 2, 4, lqaa105.

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Open Access

9 Citations (Scopus)

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

Iacoangeli, A., Lin, T., Al Khleifat, A., Jones, A. R., Opie-Martin, S., Coleman, J. R. I., Shatunov, A., Sproviero, W., Williams, K. L., Garton, F., Restuadi, R., Henders, A. K., Mather, K. A., Needham, M., Mathers, S., Nicholson, G. A., Rowe, D. B., Henderson, R., McCombe, P. A., Pamphlett, R., & 11 othersBlair, I. P., Schultz, D., Sachdev, P. S., Newhouse, S. J., Proitsi, P., Fogh, I., Ngo, S. T., Dobson, R. J. B., Wray, N. R., Steyn, F. J. & Al-Chalabi, A., 27 Oct 2020, In: Cell Reports. 33, 4, p. 108323

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41 Citations (Scopus)

Ahmad Al Khleifat

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