Dr Alisdair McNeill

PhD FRCP (Edin) DCH FHEA

School of Medicine and Population Health

Senior Clinical Lecturer in Neurogenetics

Honorary Consultant in Clinical Genetics, Sheffield 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)

Sheffield Institute for Translational Neuroscience (SITraN)

Full contact details

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

Profile: Dr McNeill is a Senior Clinical Lecturer in Neurogenetics (Division of Neuroscience) and Honorary Consultant in Clinical Genetics at Sheffield 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 (2025) Spring in EJHG. European Journal of Human Genetics, 33(3), 259-260.
McNeill A (2025) Looking back at 2024 in the European Journal of Human Genetics. European Journal of Human Genetics, 33(2), 141-143.
McNeill A (2024) New guidelines for rare cancer syndromes. European Journal of Human Genetics, 32(12), 1517-1517.
McNeill A (2024) November in EJHG: looking at genetic counsellor training in Europe, novel clinical guidelines and ancestral impact on variant interpretation. European Journal of Human Genetics, 32(11), 1343-1344.
McNeill A (2024) Genomic technologies identify milder presentations of Mendelian disease. 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) Systematic review of presymptomatic treatment for spinal muscular atrophy. International Journal of Neonatal Screening, 10(3). View this article in WRRO
McNeill A (2024) Summer reading in EJHG. 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) Systematic review of newborn screening programmes for spinal muscular atrophy. International Journal of Neonatal Screening, 10(3). View this article in WRRO
McNeill A (2024) Hitting the heights with CiteScore. European Journal of Human Genetics, 32(7), 743-744.
McNeill A (2024) What’s new in EJHG in June 2024?. European Journal of Human Genetics, 32(6), 603-604.
McNeill A (2024) Novel insights into cancer predisposition genes. 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) How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype. European Journal of Medical Genetics, 69, 104944-104944.
McNeill A (2024) Artificial intelligence – the next generation of sequencing?. European Journal of Human Genetics, 32(4), 367-368.
McNeill A (2024) Solving medical mysteries with genomics. European Journal of Human Genetics, 32(3), 249-250.
Howard J, Bekker HL, McDermott CJ & McNeill A (2024) Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service. Journal of Medical Genetics, 61(7), 661-665. View this article in WRRO
McNeill A (2024) 2023 in the European Journal of Human Genetics.. Eur J Hum Genet, 32(2), 135-137.
McNeill A (2024) Using exomes better.. Eur J Hum Genet, 32(2), 138.
Binshalan T, Buckley E, Nair S & Mcneill A (2024) Variability of Multiple Sclerosis Walking Scale and Multiple Sclerosis Impact Scale Scores in People Without Multiple Sclerosis. Cureus.
McNeill A (2024) Managing genetic information sharing at family and population level. European Journal of Human Genetics, 32(1), 1-2.
Howard J, Bekker HL, Mcdermott CJ & Mcneill A (2024) A report of resources used by clinicians in the UK to support motor neuron disease genomic testing. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. View this article in WRRO
McNeill A (2023) Ambivalence and regret in genome sequencing. 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) Impaired communication ability in SOX11 syndrome. Journal of Intellectual Disability Research. View this article in WRRO
Al-Jawahiri R, Stokes L, Smith H, McNeill A & Freeth M (2023) Short report: Behavioural characterisation of SOX11 syndrome. Research in Developmental Disabilities, 143. View this article in WRRO
McNeill A (2023) Deep phenotyping and population-level data can help resolve genomic variants. European Journal of Human Genetics, 31(11), 1199-1200.
McNeill A (2023) Expanding what we know about rare genetic diseases. European Journal of Human Genetics, 31(10), 1091-1092.
McNeill A (2023) A new impact factor for EJHG in 2022. European Journal of Human Genetics, 31(8), 847-848.
McNeill A (2023) Unusual genomic variants require unusual analyses. European Journal of Human Genetics, 31(7), 721-722.
McNeill A (2023) The complex genomics of single gene disorders. European Journal of Human Genetics, 31(6), 609-610.
McNeill A (2023) Molecular explanations for variability of clinical phenotypes. European Journal of Human Genetics, 31(5), 491-492.
McNeill A (2023) April, again. European Journal of Human Genetics, 31(4), 369-370.
McNeill A (2023) Genes=disease (?).. Eur J Hum Genet, 31(3), 255-256.
McNeill A (2023) 2022: the year that was in the European Journal of Human Genetics. European Journal of Human Genetics, 31(2), 131-133.
McNeill A (2023) The value of exomes across the ages. European Journal of Human Genetics, 31(2), 129-130.
McNeill A (2023) New year, new genes. European Journal of Human Genetics, 31(1), 1-2.
McNeill A (2022) The utility of population level genomic research. European Journal of Human Genetics, 30(12), 1307-1308.
McNeill A (2022) Genome sequencing—do you know what you are getting into?. European Journal of Human Genetics, 30(11), 1201-1202.
McNeill A (2022) Happy 30th birthday to the European Journal of Human Genetics!. Eur J Hum Genet, 30(10), 1095-1096.
McNeill A (2022) Guidelines, guidelines everywhere—and still I’m not sure what to do. 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) Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation, 43(11), 1609-1628.
McNeill A (2022) Exome sequencing—one test to rule them all?. European Journal of Human Genetics, 30(8), 869-869.
Binshalan T, Nair KPS & McNeill A (2022) The effectiveness of physiotherapy interventions for mobility in severe multiple sclerosis: a systematic review and meta-analysis. Multiple Sclerosis International, 2022.
Redgrave S & McNeill A (2022) A qualitative interview study of the attitudes toward reproductive options of people with genetic visual loss. Journal of Genetic Counseling.
McNeill A (2022) Clinical genomics testing: mainstreaming and globalising.. Eur J Hum Genet, 30(7), 747-748.
McNeill A (2022) What's new in genetics in June 2022?. Eur J Hum Genet, 30(6), 633-634.
McNeill A (2022) No gene to predict the future?. 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) Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. The Lancet Gastroenterology & Hepatology.
McNeill A (2022) No April fools in clinical genomics. 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) Predictive genetic testing for motor neuron disease : time for a guideline?. 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) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24(6), 1261-1273.
McNeill A (2022) Good genotype-phenotype relationships in rare disease are hard to find. European Journal of Human Genetics, 30(3), 251-251.
McNeill A (2022) A new system for variant classification?. 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) Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.. HGG Advances, 3(1). View this article in WRRO
McNeill A (2022) 2021 at European Journal of Human Genetics: the year in review.. Eur J Hum Genet, 30(1), 3-4.
McNeill A (2021) Genomics elucidates both common and rare disease aetiology. European Journal of Human Genetics, 29(12), 1725-1726.
McNeill A, Aurora P, Rajput K, Nash R, Stals K, Robinson H & Wakeling E (2021) Dominant and recessive SLC12A2-syndrome. American Journal of Medical Genetics Part A.
McNeill A (2021) Genotyping arrays, population genetic studies and clinical implications.. Eur J Hum Genet.
McNeill A (2021) Comment on : Bi-allelic variants in genes previously associated with dominant inheritance : CACNA1A, RET and SLC20A2. European Journal of Human Genetics, 29, 1475-1476.
McNeill A (2021) Fond farewell to clinical utility gene cards.. Eur J Hum Genet.
McNeill A (2021) A new impact factor for European Journal of Human Genetics.. Eur J Hum Genet, 29(8), 1165.
McNeill A (2021) Clinical genetics—it’s polygenic. European Journal of Human Genetics, 29(7), 1037-1037.
McNeill A (2021) Clinical genomics-but faster.. Eur J Hum Genet.
McNeill A (2021) Out now in May's EJHG.. Eur J Hum Genet, 29(5), 721.
McNeill A (2021) What’s new in EJHG in April. 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) Ursodeoxycholic acid as a novel disease-modifying treatment for Parkinson’s disease: protocol for a two-centre, randomised, double-blind, placebo-controlled trial, The 'UP' study. 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) SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain. View this article in WRRO
McNeill A, Lewis R & Freeth M (2020) Views of adults with 22q11 deletion syndrome on reproductive choices. American Journal of Medical Genetics Part A. View this article in WRRO
Mullin S, Beavan M, Bestwick J, McNeill A, Proukakis C, Cox T, Hughes D, Mehta A, Zetterberg H & Schapira AHV (2019) Evolution and clustering of prodromal parkinsonian features in GBA1 carriers. Movement Disorders, 34(9), 1365-1373.
McNeill A (2019) Editorial for Brain Sciences Special Issue: “Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping”. Brain Sciences, 9(3). View this article in WRRO
McNeill A (2019) Movement disorders in adults with 22q11 deletion syndrome. Movement Disorders Clinical Practice. View this article in WRRO
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) De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. The American Journal of Human Genetics, 104(2), 246-259. View this article in WRRO
McNeill A (2018) Are congenital anomalies of the kidney and urinary tract part of the SOX11 syndrome?. Kidney international, 94(4), 826-827. View this article in WRRO
Vo OK, McNeill A & Vogt KS (2018) The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review. American Journal of Medical Genetics Part A, 176(10), 2215-2225.
Buckley E, Mazzà C & McNeill A (2018) A systematic review of the gait characteristics associated with Cerebellar Ataxia. Gait and Posture, 60, 154-163. View this article in WRRO
McNeill A (2017) MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLoS Genetics, 13(8). View this article in WRRO
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) Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurology, 74(7), 780-780.
Buckley E, Siddique A & McNeill A (2017) Hyposmia, symptoms of REM sleep behavior disorder and Parkinsonian motor signs suggests prodromal neurodegeneration in 22q11 deletion syndrome. NeuroReport. View this article in WRRO
Siddique A, Willoughby J, Study DDD & McNeill A (2017) A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy. American Journal of Medical Genetics Part A. View this article in WRRO
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) Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology, 18(1). View this article in WRRO
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) Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. 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) Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome. Journal of Medical Genetics, 53(3), 152-162. View this article in WRRO
Kilpatrick BS, Magalhaes J, Beavan MS, McNeill A, Gegg ME, Cleeter MWJ, Bloor-Young D, Churchill GC, Duchen MR, Schapira AH & Patel S (2016) Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts.. Cell Calcium, 59(1), 12-20. View this article in WRRO
Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A & Schapira AHV (2015) Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation–Positive Cohort. JAMA Neurology, 72(2), 201-208.
McNeill A (2015) Lysosomal dysfunction in Parkinson’s disease. 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) Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease. Brain, 137(8), 2303-2311. View this article in WRRO
McNeill A, Magalhaes J, Shen C, Chau K-Y, Hughes D, Mehta A, Foltynie T, Cooper JM, Abramov AY, Gegg M & Schapira AHV (2014) Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain, 137(5), 1481-1495.
McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF & Schapira AHV (2014) Corrigendum to “Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study” [Mol. Genet. Metab. 109 (2013) 221–223]. 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) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature Genetics, 46(9), 989-993.
McNeill A, Healy DG, Schapira AHV & Taanman J-W (2013) Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations. 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) Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation. Acta Neuropathologica, 126(1), 151-153.
McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF & Schapira AHV (2013) Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study. 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) The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. 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) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. 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) Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Human Molecular Genetics, 21(22), 4996-5009.
McNeill A, Gorman G, Khan A, Horvath R, Blamire AM & Chinnery PF (2012) Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2* Relaxation Rate. American Journal of Neuroradiology, 33(9), 1810-1813.
McNeill A (2012) PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation. Current Drug Targets, 13(9), 1204-1206.
McNeill A & F. Chinnery P (2012) Neuroferritinopathy: Update on Clinical Features and Pathogenesis. Current Drug Targets, 13(9), 1200-1203.
McNeill A, Duran R, Hughes DA, Mehta A & Schapira AHV (2012) A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers. 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) Novel pathogenic mutations in the glucocerebrosidase locus. 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) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. 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) Proteomic analysis of pre- and post-sunitinib treated renal cancer tissue to assess tumor heterogeneity and differential protein expression.. 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) Promoter mutation is a common variant in GJC2-associated Pelizaeus–Merzbacher-like disease. Molecular Genetics and Metabolism, 104(4), 637-643.
KURIAN MA, MCNEILL A, LIN J-P & MAHER ER (2011) Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). 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) Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome. 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) An unusual gait following the discovery of a new disease. Practical Neurology, 11(2), 81-84.
(2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet, 377(9766), 641-649.
Mcneill A & Chinnery PF (2011) Neurodegeneration with brain iron accumulation, 161-172.
McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F & Maher ER (2009) Genotype-phenotype correlations in VHL exon deletions. 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) Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation. European Neurology, 62(3), 161-166.
McNeill A, Pandolfo M, Kuhn J, Shang H & Miyajima H (2008) The Neurological Presentation of Ceruloplasmin Gene Mutations. European Neurology, 60(4), 200-205.
McNeill A (2007) Failure of colonic anastomosis in a patient with colonic scleroderma. International Journal of Colorectal Disease, 22(7), 841-842.
McNeill A (2007) Neurological negligence claims in the NHS from 1995 to 2005. European Journal of Neurology, 14(4), 399-402.
McNeill A, Parkin CKE & Rubab U (2007) Using a case report to teach junior doctors about medical publishing. Medical Teacher, 29(5), 511-511.
McNeill A (2006) Chorea Induced by Low-Dose Trazodone. European Neurology, 55(2), 101-102.
McNeill A (2005) Expression of apolipoprotein-E in human perinatal brain after hypoxic-ischaemic injury. Pathology, 37(3), 256-258.
McNeill A, Cano S & Warner TT (2004) Clinical diagnosis of cervical dystonia. European Journal of General Practice, 10(2), 73-74.
Mcneill A, Douglas AGL, Macleod R & Lahiri N () Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-2.
Howard J, Chaouch A, Douglas AGL, MacLeod R, Roggenbuck J & McNeill A () Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members. European Journal of Human Genetics.
Allen S, Howard J, Mcdermott CJ, Boardman F & Mcneill A () Neurologists’ understanding of reproductive medicine options for genetic forms of motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-12.
Morgan AT, Coleman B, Vogel AP, McNeill A & Robinson PN () Speech and language classification in the human phenotype ontology. European Journal of Human 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 () Multimodal assessment of mitochondrial function in Parkinson's disease. Brain.
McNeill A () Why don’t we all use genomic testing?. European Journal of Human Genetics.
Pears E, Stokes L & McNeill A () ENROLL-HD for MND?. European Journal of Human Genetics.
McNeill A () Correction: 2021 at European Journal of Human Genetics: the year in review. European Journal of Human Genetics.
McNeill A () New year, new issue. 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 () Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis. PLoS ONE, 8(7), e69190-e69190.
() A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics, 7(6), e1002142-e1002142.

Chapters

McNeill A () Neurodegeneration with Brain Iron Accumulation, Wilson Disease, and Manganism, Neurodegeneration (pp. 317-326). John Wiley & Sons, Ltd
McNeill A () Neurodegeneration with brain iron accumulation View this article in WRRO

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 microarray data for "MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus" Published in PLoS Genetics 2017..

Research group

EJHG Editorial Assistant

Dr Shona Kirk PhD

Sheffield 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 Sheffield 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 Sheffield Children’s Hospital and NIHR Specialty Research Lead for genetics in Sheffield. 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 Sheffield 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.

School of Medicine and Population Health

School of Medicine and Population Health

Dr Alisdair McNeill

Journal articles

Chapters

Conference proceedings papers

Datasets

Links