Publications & Presentations


Selected subset co-authored by Population Bio's scientists

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

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

Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder.
Gadow KD, DeVincent CJ, Siegal VI, Olvet DM, Kibria S, Kirsch SF, Hatchwell E.
Prog Neuropsychopharmacol Biol Psychiatry. 2013 Jan 10;40:292-7. Epub 2012 Oct 31. PMID 23123360

Lack of association between the 5-HTTLPR and the error-related negativity (ERN).
Olvet DM, Hatchwell E, Hajcak G.
Biol Psychol. 2010 Dec;85(3):504-8. Epub 2010 Oct 27. PMID 20920548

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.
Am J Med Genet A. 2010 Oct;152A(10):2493-504. PMID: 20799323

Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder.
Gadow KD, Devincent CJ, Olvet DM, Pisarevskaya V, Hatchwell E.
Eur J Neurosci. 2010 Sep;32(6):1058-65. Epub 2010 Aug 22. PMID 20731709

Parent-child DRD4 genotype as a potential biomarker for oppositional, anxiety, and repetitive behaviors in children with autism spectrum disorder.
Gadow KD, DeVincent CJ, Pisarevskaya V, Olvet DM, Xu W, Mendell NR, Finch SJ, Hatchwell E.
Prog Neuropsychopharmacol Biol Psychiatry. 2010 Oct 1;34(7):1208-14. Epub 2010 Jun 26. PMID 20600463

Glutamate transporter gene (SLC1A1) single nucleotide polymorphism (rs301430) and repetitive behaviors and anxiety in children with autism spectrum disorder.
Gadow KD, Roohi J, DeVincent CJ, Kirsch S, Hatchwell E.
J Autism Dev Disord. 2010 Sep;40(9):1139-45. PMID 20155310

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.
Eur J Hum Genet. 2010 Apr;18(4):436-41. Epub 2009 Nov 11. PMID 19904302

BAK1 gene variation and abdominal aortic aneurysms-variants are likely due to sequencing of a processed gene on chromosome 20.
Hatchwell E.
Hum Mutat. 2010 Jan;31(1):108-9; author reply 110-1. PMID 19847788

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.
J Med Genet. 2010 Apr;47(4):223-9. Epub 2009 Sep 14. PMID 19752160

Acquired copy number alterations in adult acute myeloid leukemia genomes.
Walter MJ, Payton JE, Ries RE, Shannon WD, Deshmukh H, Zhao Y, Baty J, Heath S, Westervelt P, Watson M, Tomasson MH, Nagarajan R, O'Gara BP, Bloomfield CD, Mrózek K, Selzer RR, Richmond TA, Kitzman J, Geoghegan J, Eis PS, Maupin R, Fulton R, McLellan M, Wilson RK, Mardis ER, Link DC, Graubert TA, DiPersio JF, Ley TJ.
Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12950-5. Epub 2009 Jul 27. PMID 19651600

Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder.
Gadow KD, Roohi J, DeVincent CJ, Kirsch S, Hatchwell E.
J Autism Dev Disord. 2009 Nov;39(11):1542-51. Epub 2009 Jul 7. PMID 19582565

High-resolution genome-wide cytosine methylation profiling with simultaneous copy number analysis and optimization for limited cell numbers.
Oda M, Glass JL, Thompson RF, Mo Y, Olivier EN, Figueroa ME, Selzer RR, Richmond TA, Zhang X, Dannenberg L, Green RD, Melnick A, Hatchwell E, Bouhassira EE, Verma A, Suzuki M, Greally JM.
Nucleic Acids Res. 2009 Jul;37(12):3829-39. Epub 2009 Apr 22. PMID 19386619

Genetic variation in brain-derived neurotrophic factor and human fear conditioning.
Hajcak G, Castille C, Olvet DM, Dunning JP, Roohi J, Hatchwell E.
Genes Brain Behav. 2009 Feb;8(1):80-5. PMID 19220486

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E.
Clin Genet. 2009 Mar;75(3):259-64. PMID 19170718

Association of ADHD, tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder.
Gadow KD, Roohi J, DeVincent CJ, Hatchwell E.
J Child Psychol Psychiatry. 2008 Dec;49(12):1331-8. PMID 19120712

Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays.
Zhi J, Hatchwell E.
BMC Genomics. 2008 Sep 10;9:407. PMID 18783624

Association of a monoamine oxidase-a gene promoter polymorphism with ADHD and anxiety in boys with autism spectrum disorder.
Roohi J, DeVincent CJ, Hatchwell E, Gadow KD.
J Autism Dev Disord. 2009 Jan;39(1):67-74. Epub 2008 Jun 20. PMID 18566880

An improved method for generating BAC DNA suitable for FISH.
Roohi J, Cammer M, Montagna C, Hatchwell E.
Cytogenet Genome Res. 2008;121(1):7-9. Epub 2008 May 7. PMID 18544919

A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.
Roohi J, Tegay DH, Pomeroy JC, Burkett S, Stone G, Stanyon R, Hatchwell E.
Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):411-7. PMID 18384058

Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH Jr.
Biol Psychiatry. 2008 Jun 15;63(12):1111-7. Epub 2008 Mar 28. PMID 18374305

Disruption of contactin 4 in three subjects with autism spectrum disorder.
Roohi J, Montagna C, Tegay DH, Palmer LE, DeVincent C, Pomeroy JC, Christian SL, Nowak N, Hatchwell E.
J Med Genet. 2009 Mar;46(3):176-82. Epub 2008 Mar 18. PMID 18349135

Toriello-Carey syndrome phenotype and chromosome anomalies.
Toriello HV, Hatchwell E.
Am J Med Genet A. 2008 Jan 1;146A(1):116. PMID 18074373

The potential role of epigenomic dysregulation in complex human disease.
Hatchwell E, Greally JM.
Trends Genet. 2007 Nov;23(11):588-95. Epub 2007 Oct 22. Review. PMID 17953999

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S.
Clin Genet. 2007 Jul;72(1):47-58. PMID 17594399

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham Jr. JM, MedneL, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG.
Nat Genet. 2007 Sep;39(9):1071-3. Epub 2007 Aug 19. PMID 17704777

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH.
Am J Med Genet A. 2007 May 1;143A(9):999-1008. PMID 17431895

Characterization of a recurrent 15q24 Microdeletion Syndrome.
Sharp AJ, Selzer RR, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Veltman JA, Knoers NV, Hennekam RC, Eis PS, Knight SJL, Brunner HG, de Vries BB, Zuffardi O, Eichler EE.
Hum Mol Genet. 2007 Mar 1;16(5):567-72. Epub 2007 Mar 14. PMID 17360722

A high-resolution map of segmental DNA copy number variation in the mouse genome.
Graubert TA, Cahan P, Edwin D, Selzer RR, Richmond TA, Eis PS, Shannon WD, Li X, McLeod HL, Cheverud JM, Ley TJ.
PLoS Genet. 2007 Jan 5;3(1):e3. Epub 2006 Nov 22. PMID 17206864

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.
Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13. PMID 16906162

Comparative isoschizomer profiling of cytosine methylation: the HELP assay.
Khulan B, Thompson RF, Ye K, Fazzari MJ, Suzuki M, Stasiek E, Figueroa ME, Glass JL, Chen Q, Montagna C, Hatchwell E, Selzer RR, Richmond TA, Green RD, Melnick A, Greally JM.
Genome Res. 2006 Aug;16(8):1046-55. Epub 2006 Jun 29. PMID 16809668

Autism and environmental genomics.
Herbert MR, Russo JP, Yang S, Roohi J, Blaxill M, Kahler SG, Cremer L, Hatchwell E.
Neurotoxicology. 2006 Sep;27(5):671-84. Epub 2006 Mar 28. Review. PMID 16644012

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.
Selzer RR, Richmond TA, Pofahl NJ, Green RD, Eis PS, Nair P, Brothman AR, Stallings RL.
Genes Chromosomes Cancer. 2005 Nov;44(3):305-19. PMID 16075461

Accumulation of miR-155 and BIC RNA in human B cell lymphomas.
Eis PS, Tam W, Sun L, Chadburn A, Li Z, Gomez MF, Lund E, Dahlberg JE.
Proc Natl Acad Sci U S A. 2005 Mar 8;102(10):3627-32. Epub 2005 Feb 28. PMID 15738415


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.


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