Publications & Presentations


Publications

Selected subset co-authored by Population Bio's scientists

Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies. 
Hatchwell E, Smith III EB, Jalilzadeh S, Bruno CD, Taoufik Y, Hendel-Chavez H, Liblau R, Brassat D, Martin-Blondel G, Wiendl H, Schwab N, Cortese I, Monaco MC, Imberti L, Capra R, Oksenberg JR, Gasnault J, Stankoff B, Richmond TA, Rancour DM, Koralnik IJ, Hanson BA, Major EO, Chow CR, Eis PS 
Front Neurol. 2022 Dec 14. PMID: 36588876

Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Cheng C, Cleak J, Weiss L, Cater H, Stewart M, Wells S, Columbres RC, Shmara A, Morato Torres CA, Zafar F, Schüle B, Neumann J, Hatchwell E, Kimonis V.
Orphanet J Rare Dis. 2022 Oct 24;17(1):386. PMID: 36280881

Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency.
Eis PS, Huang N, Langston JW, Hatchwell E, Schüle B.
Front Neurol. 2020 Oct 29;11:555961. eCollection 2020. PMID: 33224084

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS.
J Med Genet. 2021 May;58(5):314-325. Epub 2020 Jun 9. PMID: 32518176

Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.
Eis PS, Bruno CD, Richmond TA, Koralnik IJ, Hanson BA, Major EO, Chow CR, Hendel-Chavez H, Stankoff B, Gasnault J, Taoufik Y, Hatchwell E.
Front Neurol. 2020 Mar 17;11:186. eCollection 2020. PMID: 32256442

Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson's disease.
Zafar F, Valappil RA, Kim S, Johansen KK, Chang ALS, Tetrud JW, Eis PS, Hatchwell E, Langston JW, Dickson DW, Schüle B.
NPJ Parkinsons Dis. 2018 Jun 15;4:18. eCollection 2018. PMID: 29928688

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G, Flinter F, Ogilvie CM, Collier DA, Scherer SW, McAlonan GM, Murphy DG.
J Med Genet. 2016 Aug;53(8):536-47. Epub 2016 Apr 12. PMID: 27073233

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Dussardier BG, Scherer SW, Betancur C, Campion D.
Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):377-82. Epub 2016 Jan 14. PMID: 26978485

Comparative genomic hybridization solves a 14-year-old PARKIN mystery.
Schüle B, Hatchwell E, Eis PS, Langston JW.
Ann Neurol. 2015 Oct;78(4):663-4. Epub 2015 Aug 29. PMID: 26179350

Is there a (host) genetic predisposition to progressive multifocal leukoencephalopathy?
Hatchwell E.
Front Immunol. 2015 May 11;6:216. eCollection 2015. PMID: 26029204

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.
Hum Mol Genet. 2014 May 15;23(10):2752-68. Epub 2013 Dec 30.  PMID: 24381304

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW.
G3 (Bethesda). 2012 Dec;2(12):1665-85. Epub 2012 Dec 1.  PMID: 23275889

Presentations

Selected subset presented by Population Bio's scientists

Genome-Wide CNV Analysis Identifies Candidate Causal Genes for Parkinson’s Disease in the Lysosomal Pathway.
Eis PS, Schüle B, Kim S, Hatchwell E.
American Society of Human Genetics Annual Meeting, Orlando FL, 2017. Poster.

Genome-Wide CNV Analysis Identifies TGFBR3 as a Candidate Causal Gene for Endometriosis and Infertility.
Hatchwell E, Zondervan KT, Eis PS.
American Society of Human Genetics Annual Meeting, Orlando FL, 2017. Poster.

NUBPL Genetics and Parkinson’s Disease
Eis PS.
MitOX 2016, University of Oxford, Oxford, United Kingdom, 2016. Talk.

Connections to Possible Cures
Eis PS.
Especially Beautiful 2 – A Rare Fashion Event, hosted by the Spooner Girls Foundation, Irvine, CA, 2016. Talk.

NUBPL Mutations Link Parkinson’s Disease and Other Movement Disorders to Recessive Complex I Deficiency.
Eis PS, Schüle B, Kim S, Langston JW, Kimonis VE, Hatchwell E.
American Society of Human Genetics Annual Meeting, Vancouver, Canada, 2016. Poster.

Mitochondrial studies in a novel disorder associated with NUBPL associated mitochondrial complex I deficiency in patients with global developmental delays, ataxia, cerebellar and pons hypoplasia.
Kimonis V, Eis PS, Parikh S, Scott DA, Koenig MK, Maclean A, Tang S, A, Hasso AN, Wydro M, Balk J, Chao E, Hatchwell E.
American Society of Human Genetics Annual Meeting, Vancouver, Canada, 2016. Poster.

Redefining Common Disorders as Collections of Rare Subtypes: Implications for Orphan Drugs
Hatchwell E.
The 4th Annual Orphan Drugs Summit, Copenhagen, Denmark, 2014. Talk.

The Future of Personalized Medicine
Hatchwell E.
MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College, London, United Kingdom, 2014. Talk.

Genetic Variations in Mitochondrial Complex I Genes Are Associated with Parkinson’s Disease.
Eis PS, Hatchwell E, Langston JW, Schüle B.
Keystone Symposium: Parkinson’s Disease: Genetics, Mechanisms and Therapeutics, Keystone CO, 2014. Poster.

Towards Explaining the Heritability of Autism Spectrum Disorders
Hatchwell E.
ICare4Autism, Jerusalem, Israel, 2012. Talk.

Modern Approaches to the Study of the Genetics of Autism
Hatchwell E.
ICare4Autism, Jerusalem, Israel, 2010. Talk.

 

To receive a copy of poster presentations, please contact info@populationbio.com.