McNeill, Alisdair, Dr

Dr Alisdair McNeill

PhD FRCP (Edin) DCH FHEA

Neuroscience, School of Medicine and Population Health

Senior Clinical Lecturer in Neurogenetics

Honorary Consultant in Clinical Genetics, ��«Ӱҵ Children’s Hospital NHS Foundation Trust

Editor-in-Chief of the European Journal of Human Genetics

a.mcneill@sheffield.ac.uk
+44 114 222 2267

+44 114 222 2290 (fax)

��«Ӱҵ Institute for Translational Neuroscience (SITraN)

Full contact details

Dr Alisdair McNeill
Neuroscience, School of Medicine and Population Health
��«Ӱҵ Institute for Translational Neuroscience (SITraN)
385a Glossop Road
��«Ӱҵ
S10 2HQ

Profile: Dr McNeill is a Senior Clinical Lecturer in Neurogenetics (Division of Neuroscience) and Honorary Consultant in Clinical Genetics at ��«Ӱҵ Children’s Hospital NHS Foundation Trust. Dr McNeill obtained a 1st Class BMedSci (Experimental Pathology, 2001) and MBChB (with Honours, 2004) from the University of Edinburgh. As an undergraduate Dr McNeill was supported by a scholarship from the Dr Robert Malcom Trust (to support students from former mining towns). Dr McNeill trained in general medicine in Newcastle-Upon-Tyne and Edinburgh before undertaking an NIHR Academic Clinical Fellowship in Clinical Genetics in the West Midlands. Dr McNeill was awarded an MRC Clinical Training Fellowship (personal award) at UCL (PhD, 2013) and obtained a CCT in Clinical Genetics in 2015.

Research interests

Research programme: improving the clinical utility and accessibility of neurogenetic testing

The goal of Dr McNeill’s research is to make neurogenetic testing (more) clinically useful, and accessible to all who wish to use it. Through the following projects:

Deep phenotyping of speech and language abilities in children with rare genetic conditions. Along with Dr Megan Freeth, Professor Matthews and Professor Fricke we have developed an online protocol to comprehensively characterise speech and communication abilities in children with rare neurodevelopmental conditions. This has demonstrated distinct patterns of communicative ability in different genetic neurodevelopmental conditions. This information will help with educational and clinical management of these children. The findings also improve the clinical utility of a genomic test result by delineating the range of communicative behaviours associated with given conditions.
Developing resources to support mainstreaming of genome sequencing in adult neurology. Along with Professor Christopher McDermott and Professor Hilary Bekker we are undertaking a mixed methods study to identify the support needs of motor neuron disease patients considering genome sequencing. The findings will be used to develop a complex intervention (likely a patient decision aid) to support MND genome sequencing discussions in mainstream neurology clinics.
Using exome sequencing in adults with rare conditions. Exome and genome sequencing is well established as an effective diagnostic tool for children with rare conditions. There is less evidence about the diagnostic value of exome sequencing in adults with rare conditions. In a commercial partnership with 3billion.io, Dr McNeill is investigating the value of exome sequencing in adults with rare conditions who have negative gene panel tests. The findings will guide genomic testing strategies in adults with rare conditions.

Publications

Journal articles

McNeill A (2024) . European Journal of Human Genetics, 32(12), 1517-1517.
McNeill A (2024) . European Journal of Human Genetics, 32(11), 1343-1344.
McNeill A (2024) . European Journal of Human Genetics, 32(9), 1033-1034.
Cooper K, Nalbant G, Sutton A, Harnan S, Thokala P, Chilcott J, McNeill A & Bessey A (2024) . International Journal of Neonatal Screening, 10(3).
McNeill A (2024) . European Journal of Human Genetics, 32(8), 885-886.
Cooper K, Nalbant G, Sutton A, Harnan S, Thokala P, Chilcott J, McNeill A & Bessey A (2024) . International Journal of Neonatal Screening, 10(3).
McNeill A (2024) . European Journal of Human Genetics, 32(7), 743-744.
McNeill A (2024) . European Journal of Human Genetics, 32(6), 603-604.
McNeill A (2024) . European Journal of Human Genetics, 32(5), 469-470.
Mégarbané A, Mehawej C, Mahfoud D, Chouery E, Devriendt K, Hijazi M, Ryu SW, Kim J & McNeill A (2024) . European Journal of Medical Genetics, 69, 104944-104944.
McNeill A (2024) . European Journal of Human Genetics, 32(4), 367-368.
McNeill A (2024) . European Journal of Human Genetics, 32(3), 249-250.
McNeill A (2024) . Eur J Hum Genet, 32(2), 135-137.
McNeill A (2024) . Eur J Hum Genet, 32(2), 138.
Binshalan T, Buckley E, Nair S & Mcneill A (2024) . Cureus.
McNeill A (2024) . European Journal of Human Genetics, 32(1), 1-2.
Howard J, Bekker HL, Mcdermott CJ & Mcneill A (2024) . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
McNeill A (2023) . European Journal of Human Genetics, 31(12), 1343-1343.
Smith H, Al-Jawahiri R, Stokes L, Freeth M, Fricke S, Matthews D & McNeill A (2023) . Journal of Intellectual Disability Research.
Al-Jawahiri R, Stokes L, Smith H, McNeill A & Freeth M (2023) . Research in Developmental Disabilities, 143.
McNeill A (2023) . European Journal of Human Genetics, 31(11), 1199-1200.
McNeill A (2023) . European Journal of Human Genetics, 31(10), 1091-1092.
McNeill A (2023) . European Journal of Human Genetics, 31(8), 847-848.
McNeill A (2023) . European Journal of Human Genetics, 31(7), 721-722.
McNeill A (2023) . European Journal of Human Genetics, 31(6), 609-610.
McNeill A (2023) . European Journal of Human Genetics, 31(5), 491-492.
McNeill A (2023) . European Journal of Human Genetics, 31(4), 369-370.
McNeill A (2023) . Eur J Hum Genet, 31(3), 255-256.
McNeill A (2023) . European Journal of Human Genetics, 31(2), 131-133.
McNeill A (2023) . European Journal of Human Genetics, 31(2), 129-130.
McNeill A (2023) . European Journal of Human Genetics, 31(1), 1-2.
McNeill A (2022) . European Journal of Human Genetics, 30(12), 1307-1308.
McNeill A (2022) . European Journal of Human Genetics, 30(11), 1201-1202.
McNeill A (2022) . Eur J Hum Genet, 30(10), 1095-1096.
McNeill A (2022) . European Journal of Human Genetics, 30(9), 989-990.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat‐Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G , Ciolfi A et al (2022) . Human Mutation, 43(11), 1609-1628.
McNeill A (2022) . European Journal of Human Genetics, 30(8), 869-869.
Binshalan T, Nair KPS & McNeill A (2022) . Multiple Sclerosis International, 2022.
Redgrave S & McNeill A (2022) . Journal of Genetic Counseling.
McNeill A (2022) . Eur J Hum Genet, 30(7), 747-748.
McNeill A (2022) . Eur J Hum Genet, 30(6), 633-634.
McNeill A (2022) . Eur J Hum Genet, 30(5), 491-492.
Shribman S, Marjot T, Sharif A, Vimalesvaran S, Ala A, Alexander G, Dhawan A, Dooley J, Gillett GT, Kelly D , McNeill A et al (2022) . The Lancet Gastroenterology & Hepatology.
McNeill A (2022) . European Journal of Human Genetics, 30(4), 389-390.
McNeill A, Amador M-D-M, Bekker H, Clarke A, Crook A, Cummings C, McEwen A, McDermott C, Quarrell O, Renieri A , Roggenbuck J et al (2022) . European Journal of Human Genetics.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M , Lefroy H et al (2022) . Genetics in Medicine, 24(6), 1261-1273.
McNeill A (2022) . European Journal of Human Genetics, 30(3), 251-251.
McNeill A (2022) . European Journal of Human Genetics, 30(2), 137-138.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A , DuPont BR et al (2022) . HGG Advances, 3(1).
McNeill A (2022) . Eur J Hum Genet, 30(1), 3-4.
McNeill A (2021) . European Journal of Human Genetics, 29(12), 1725-1726.
McNeill A, Aurora P, Rajput K, Nash R, Stals K, Robinson H & Wakeling E (2021) . American Journal of Medical Genetics Part A.
McNeill A (2021) . Eur J Hum Genet.
McNeill A (2021) . European Journal of Human Genetics, 29, 1475-1476.
McNeill A (2021) . Eur J Hum Genet.
McNeill A (2021) . Eur J Hum Genet, 29(8), 1165.
McNeill A (2021) . European Journal of Human Genetics, 29(7), 1037-1037.
McNeill A (2021) . Eur J Hum Genet.
McNeill A (2021) . Eur J Hum Genet, 29(5), 721.
McNeill A (2021) . European Journal of Human Genetics, 29(4), 539-540.
Payne T, Sassani M, Buckley E, Moll S, Anton A, Appleby M, Maru S, Taylor R, McNeill A, Hoggard N , Mazza C et al (2020) . BMJ Open, 10(8), e038911-e038911.
McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A , Newbury-Ecob R et al (2020) . Brain.
McNeill A, Lewis R & Freeth M (2020) . American Journal of Medical Genetics Part A.
Mullin S, Beavan M, Bestwick J, McNeill A, Proukakis C, Cox T, Hughes D, Mehta A, Zetterberg H & Schapira AHV (2019) . Movement Disorders, 34(9), 1365-1373.
McNeill A (2019) . Brain Sciences, 9(3).
McNeill A (2019) . Movement Disorders Clinical Practice.
Zawerton A, Yeager JP, Pippucci T, Haseeb A, Smith J, Wischmann L, Kuhl SJ, Dean JCS, Pilz DT, Holder SE , Study DDD et al (2019) . The American Journal of Human Genetics, 104(2), 246-259.
McNeill A (2018) . Kidney international, 94(4), 826-827.
Vo OK, McNeill A & Vogt KS (2018) . American Journal of Medical Genetics Part A, 176(10), 2215-2225.
Buckley E, Mazzà C & McNeill A (2018) . Gait and Posture, 60, 154-163.
McNeill A (2017) . PLoS Genetics, 13(8).
Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ , Bettella F et al (2017) . JAMA Neurology, 74(7), 780-780.
Buckley E, Siddique A & McNeill A (2017) . NeuroReport.
Siddique A, Willoughby J, Study DDD & McNeill A (2017) . American Journal of Medical Genetics Part A.
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E , Gibbs JR et al (2017) . Genome Biology, 18(1).
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S , Erpapazoglou Z et al (2016) . The American Journal of Human Genetics, 98(3), 500-513.
Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A , Plessis G et al (2016) . Journal of Medical Genetics, 53(3), 152-162.
Kilpatrick BS, Magalhaes J, Beavan MS, McNeill A, Gegg ME, Cleeter MWJ, Bloor-Young D, Churchill GC, Duchen MR, Schapira AH & Patel S (2016) . Cell Calcium, 59(1), 12-20.
Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A & Schapira AHV (2015) . JAMA Neurology, 72(2), 201-208.
McNeill A (2015) . Brain, 138(4), e339-e339.
Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, Korlipara P, Hughes D, Mehta A, Hu MTM, Schapira AHV & Husain M (2014) . Brain, 137(8), 2303-2311.
McNeill A, Magalhaes J, Shen C, Chau K-Y, Hughes D, Mehta A, Foltynie T, Cooper JM, Abramov AY, Gegg M & Schapira AHV (2014) . Brain, 137(5), 1481-1495.
McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF & Schapira AHV (2014) . Molecular Genetics and Metabolism, 111(3), 408-408.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M , Schulte C et al (2014) . Nature Genetics, 46(9), 989-993.
McNeill A, Healy DG, Schapira AHV & Taanman J-W (2013) . Molecular Genetics and Metabolism, 109(4), 402-403.
Dziewulska D, Doi H, Fasano A, Erro R, Fatehi F, Fekete R, Gatto EM, Pablos EG, Lehn A, Miyajima H , Piperno A et al (2013) . Acta Neuropathologica, 126(1), 151-153.
McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF & Schapira AHV (2013) . Molecular Genetics and Metabolism, 109(2), 221-223.
Klebe S, Golmard J-L, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbaumer G , Charfi R et al (2013) . Journal of Neurology, Neurosurgery & Psychiatry, 84(6), 666-673.
Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Sadd M, Bras JM, Bettella F, Nicolaou N , Simón-Sánchez J et al (2013) . Human Molecular Genetics, 22(5), 1039-1049.
Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simon-Sanchez J, Mittag F, Buchel F, Sharma M, Gibbs JR , Schulte C et al (2012) . Human Molecular Genetics, 21(22), 4996-5009.
McNeill A, Gorman G, Khan A, Horvath R, Blamire AM & Chinnery PF (2012) . American Journal of Neuroradiology, 33(9), 1810-1813.
McNeill A (2012) . Current Drug Targets, 13(9), 1204-1206.
McNeill A & F. Chinnery P (2012) . Current Drug Targets, 13(9), 1200-1203.
McNeill A, Duran R, Hughes DA, Mehta A & Schapira AHV (2012) . Journal of Neurology, Neurosurgery & Psychiatry, 83(8), 853-854.
Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AHV & Hardy J (2012) . Molecular Genetics and Metabolism, 106(4), 495-497.
McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, Hardy J, Wood NW & Schapira AHV (2012) . Movement Disorders, 27(4), 526-532.
Stewart GD, O'Mahony F, Eory L, Nanda J, Laird A, O'Donnell M, Mullen P, Riddick A, McNeill A, Aitchison M , Berney D et al (2012) . Journal of Clinical Oncology, 30(5_suppl), 388-388.
Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E , Trembath RC et al (2011) . Molecular Genetics and Metabolism, 104(4), 637-643.
KURIAN MA, MCNEILL A, LIN J-P & MAHER ER (2011) . Developmental Medicine & Child Neurology, 53(5), 394-404.
Bem D, Yoshimura S-I, Nunes-Bastos R, Bond FF, Kurian MA, Rahman F, Handley MTW, Hadzhiev Y, Masood I, Straatman-Iwanowska AA , Cullinane AR et al (2011) . The American Journal of Human Genetics, 88(4), 499-507.
Keogh MJ, Khan A, Gorman G, McNeill A, Horvath R, Burn J & Chinnery PF (2011) . Practical Neurology, 11(2), 81-84.
(2011) . The Lancet, 377(9766), 641-649.
Mcneill A & Chinnery PF (2011) , 161-172.
McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F & Maher ER (2009) . American Journal of Medical Genetics Part A, 149A(10), 2147-2151.
McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmüller H & Chinnery PF (2009) . European Neurology, 62(3), 161-166.
McNeill A, Pandolfo M, Kuhn J, Shang H & Miyajima H (2008) . European Neurology, 60(4), 200-205.
McNeill A (2007) . International Journal of Colorectal Disease, 22(7), 841-842.
McNeill A (2007) . European Journal of Neurology, 14(4), 399-402.
McNeill A, Parkin CKE & Rubab U (2007) . Medical Teacher, 29(5), 511-511.
McNeill A (2006) . European Neurology, 55(2), 101-102.
McNeill A (2005) . Pathology, 37(3), 256-258.
McNeill A, Cano S & Warner TT (2004) . European Journal of General Practice, 10(2), 73-74.
Howard J, Chaouch A, Douglas AGL, MacLeod R, Roggenbuck J & McNeill A () . European Journal of Human Genetics.
Allen S, Howard J, Mcdermott CJ, Boardman F & Mcneill A () . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-12.
Morgan AT, Coleman B, Vogel AP, McNeill A & Robinson PN () . European Journal of Human Genetics.
Howard J, Bekker HL, McDermott CJ & McNeill A () . Journal of Medical Genetics.
Payne T, Burgess T, Bradley S, Roscoe S, Sassani M, Dunning MJ, Hernandez D, Scholz S, McNeill A, Taylor R , Su L et al () . Brain.
McNeill A () . European Journal of Human Genetics.
Pears E, Stokes L & McNeill A () . European Journal of Human Genetics.
McNeill A () . European Journal of Human Genetics.
McNeill A () . European Journal of Human Genetics.
McNeill A, Wu R-M, Tzen K-Y, Aguiar PC, Arbelo JM, Barone P, Bhatia K, Barsottini O, Bonifati V, Bostantjopoulou S , Bressan R et al () . PLoS ONE, 8(7), e69190-e69190.
() . PLoS Genetics, 7(6), e1002142-e1002142.

Chapters

McNeill A () , Neurodegeneration (pp. 317-326). John Wiley & Sons, Ltd
McNeill A () Neurodegeneration with brain iron accumulation

Conference proceedings papers

McNeill A, Hughes D, Mehta A & Schapira A (2012) Hyposmia and cognitive impairment in gaucher disease patients and carriers. JOURNAL OF MEDICAL GENETICS, Vol. 49 (pp S63-S63)
Aligianis I, Handley M, Carpanini S, Bern D, Yoshimura S, Nunes-Bastos R, Bond F, Kurian M, Rahman F, Hadzhiev Y , Pasha S et al (2011) Micro and Martsolf Syndromes. JOURNAL OF MEDICAL GENETICS, Vol. 48 (pp S36-S36)

Datasets

McNeill A .

Research group

EJHG Editorial Assistant

Dr Shona Kirk PhD

��«Ӱҵ Children’s Hospital clinical genetics research team

Pauline Bayliss (research sister)

Post-doctoral research associates

Dr Jade Howard PhD
Dr Harriet Smith PhD

PhD Students (Primary supervisor)

Shanice Allen (2023-)
Mosab Alsaedi (2022-)
Tarub Binashalan (2020 -)
Louis Stokes (2020-2023)
Katharina Vogt (2017-2020)
Ellen Buckley (2017-202)

Grants

MND Scotland. Reproductive options in familial MND. 2023. £75 000. PI.
Rosetrees trust. Hypogonadism in neurodevelopmental conditions. c.£250 000. Co-I.
MND Association. Developing a decision support aid for genomic testing in MND. 2021. £169 000. PI.
Bailey Thomas Charitable Foundation. Speech and communication abilities in rare genetic conditions. 2021. £69 000. PI.
European Society of Human Genetics. European Journal of Human Genetics Editorial office. 2020 -. c£200 000. PI.
National Eye Research Centre. Reproductive medicine options in genetic eye conditions. 2019. £10 000. PI.
BDF Newlife. Investigating MYT1L as a novel neurodevelopmental condition gene. 2016. £15 000. PI.
Sir Halley Stewart Trust. Creating a clinical outcome assessment for Wolf-Hirshorn syndrome. 2016. £50 000. PI.

Teaching activities

Dr McNeill has a strong commitment to medical education, especially to equipping clinicians with skills in genomic diagnostics.

MBChB (Undergraduate)

Dr McNeill leads on delivering clinical genetics teaching on the ��«Ӱҵ MBChB, in both the Year 1 Introduction to Medical Sciences week and clinical paediatric rotations. Dr McNeill is a member of the core MBChB student support team acting as an Associate Director of Student Affairs, with a focus on intercalation/academic training, and is a PATS tutor on the MBChB and widening participation MBChB course.

Msc Clinical Neurology (Postgraduate)

Dr McNeill leads the research module. This provides students with a comprehensive introduction to research in clinical neurosciences.

Professional activities and memberships

Dr McNeill is Editor-in-Chief of the European Journal of Human Genetics (2020-)(https://www.nature.com/ejhg/). During his tenure, the performance of the journal, as judged by citescore and impact factor, has risen. The European Journal of Human Genetics is now ranked 30th out of 173 journals in “Genetics and Heredity”, this is the journal’s highest ever ranking.
Dr McNeill is clinical research lead for clinical genetics at ��«Ӱҵ Children’s Hospital and NIHR Specialty Research Lead for genetics in ��«Ӱҵ. Dr McNeill ensures appropriate studies are open to recruitment to provide equitable access to research projects for potential participants.
Dr McNeill is the British Medical Association university representative on the ��«Ӱҵ Children’s Hospital Local Negotiating Committee. Dr McNeill is increasingly concerned about the unsustainable demands being placed on consultant clinical academics.
Dr McNeill sits on the British Society of Genomic Medicine ethics and policy committee, with a focus on ethical aspects of genetic testing in adult neurological conditions. Dr McNeill is a liaison member of the European Society of Human Genetics board.

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School of Medicine and Population Health