Regulation of Gene Expression During Erythropoiesis
The molecular events that confer the ability to express lineage-specific genes upon an initially uncommitted, pluripotent hematopoietic stem cell remain a major question in cell differentiation. Use of an immortalized erythroid cell line as a means to isolate genes that may be important for erythroid function allowed us to identify a novel, erythroid-specific gene, which was named EKLF (erythroid Krüppel-like factor).
Biochemical, molecular, cellular, developmental, and genetic studies in mice and humans have established that EKLF is an essential component required for globin switching and completion of the definitive erythroid program. Disorders of hemoglobin expression can lead to a variety of hemoglobinopathies, including sickle cell anemia and ß–thalassemia (Cooley’s anemia). As a result, our examination of EKLF’s mechanism of action has illuminated how it regulates the globin locus, and has provided us with a way to reconstruct EKLF so that it can potentially rectify one type of hemoglobin disorder.
Our discovery of EKLF has stimulated other investigators around the world to search for analogous genes that can work in a similar fashion to regulate unique targets in other tissues. EKLF is now the founding member (KLF1) of a family of seventeen proteins, some of which have been directly implicated in suppression of a specific subset of cancers.
Contact Us
MS Laboratory
Mount Sinai, Ph.D.
Professor
Department of Cell, Developmental, & Regenerative Biology
Black Family Stem Cell Institute
Tisch Cancer Institute
Mindich Child Health and Development Institute
Current Projects
We are vigorously continuing the study of EKLF (KLF1) using a number of approaches, including biochemical and structure/function analyses of the EKLF protein, identification of its protein partners, examining its ability to extrinsically control erythropoiesis, and monitoring how EKLF expression itself is so precisely regulated during development.
Our most recent studies are focused on a number of areas: one, a continuing analysis of EKLF protein/protein interactions and how they result in altered transcriptional and epigenetic changes at target loci; two, on how these controls converge to regulate late events in erythropoiesis, particularly enucleation; three, on analysis of EKLF upstream regulators to help explain its exquisite tissue-restricted expression pattern, and to possibly link alteration of its expression level to aberrant red cell biology; four, on functional and phenotypic analyses of a neonatal anemia mouse mutant (Nan) that contains a mutation in one allele of EKLF; finally, on determining the mechanism by which a human mutation in EKLF leads to congenital dyserythropoietic anemia.
Recent Publications
2018
Gandal MJ*, Zhang P, Hadjimichael E, Walker RL, Chen C, Liu S, Won H, van Bakel H, Varghese M, Wang Y, Shieh AW, Haney J, Parhami S, Belmont J, Kim M, Losada PM, Khan Z, Mleczko J, Xia Y, Dai R, Wang D, Yang YT, Xu M, Fish K, Hof PR, Warrell J, Fitzgerald D, White K, Jaffe AE, PsychENCODE Consortium†, Peters MA, Gerstein M, Liu C*, Iakoucheva LM*, Pinto D*, Geschwind DH*. (*corresponding authors)
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.
Science14 Dec 2018: Vol. 362, Issue 6420, eaat8127. DOI: 10.1126/science.aat8127.
Data Resource
Data Visualization
PsychENCODE website
Introduction to Science Special issue ‘Revealing the brain’s molecular architecture’
In Depth: Neurogenetics
Other PsychENCODE papers
Dobbyn A, Huckins L, Boocock J, Sloofman LG, Glicksberg BS, Giambartolomei C, Hoffman G, Perumal TM, Girdhar K, Jiang Y, Raj T, Ruderfer D, Kramer R, Pinto D; CommonMind Consortium, Akbarian S, Roussos P, Domenici E, Devlin B, Sklar P, Stahl EA, Sieberts SK.
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.
Am J Hum Genet 2018 Jun 7;102(6):1169-1184. doi: 10.1016/j.ajhg.2018.04.011.
2017
Nguyen HT, Bryois J, Kim A,Dobbyn A Huckins LM, Munoz-Manchado AB, Ruderfer DM, Genovese G, Fromer M, Xu X, Pinto D, Linnarsson S, Verhage M, Smit AB, Hjerling-Leffler J, Buxbaum JD, Hultman C, Sklar P, Purcell SM, Lage K, He X, Sullivan PF, Stahl EA.
Bayesian Integrated Analysis Of Multiple Types Of Rare Variants To Infer Risk Genes For Schizophrenia And Other Neurodevelopmental Disorders.
Genome Med 2017 Dec 20;9(1):114. doi: 10.1186/s13073-017-0497-y.
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Mol Autism 2017 May 22;8:21. doi: 10.1186/s13229-017-0137-9.
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Nat Genet 2017 May 15. doi: 10.1038/ng.3863.
Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA, Hakonarson H; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Price Foundation Collaborative Group.
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.
Sci Rep 2017 Jun 19;7(1):3847.
Duncan L, Yilmaz Z, Gaspar H, Walters R, Goldstein J, Anttila V, Bulik-Sullivan B, Ripke S; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Thornton L, Hinney A, Daly M, Sullivan PF, Zeggini E, Breen G, Bulik CM.
Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.
Am J Psychiatry 2017 May 12:appiajp201716121402. doi: 10.1176/appi.ajp.2017.16121402. [Epub ahead of print]
Sagar A, Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EH.
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Am J Med Genet A 2017 Jun;173(6):1656-1662.
2016
The PsychENCODE consortium, Akbarian S, Liu C, Knowles JA, Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Nairn AC, Abyzov A, Pochareddy S, Prabhakar S, Weissman S, Sullivan PF, State MW, Weng Z, Peters MA, White KP, Gerstein MB, Amiri A, Armoskus C, Ashley-Koch AE, Bae T, Beckel-Mitchener A, Berman BP, Coetzee GA, Coppola G, Francoeur N, Fromer M, Gao R, Grennan K, Herstein J, Kavanagh DH, Ivanov NA, Jiang Y, Kitchen RR, Kozlenkov A, Kundakovic M, Li M, Li Z, Liu S, Mangravite LM, Mattei E, Markenscoff-Papadimitriou E, Navarro FC, North N, Omberg L, Panchision D, Parikshak N, Poschmann J, Price AJ, Purcaro M, Reddy TE, Roussos P, Schreiner S, Scuderi S, Sebra R, Shibata M, Shieh AW, Skarica M, Sun W, Swarup V, Thomas A, Tsuji J, van Bakel H, Wang D, Wang Y, Wang K, Werling DM, Willsey AJ, Witt H, Won H, Wong CC, Wray GA, Wu EY, Xu X, Yao L, Senthil G, Lehner T, Sklar P, Sestan N.
The PsychENCODE project.
Nat Neurosci 2015 Nov 25;18(12):1707-12. doi: 10.1038/nn.4156.
Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium; British Society of Pediatric and Adolescent Rheumatology BSPAR Study Group.
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
Proc Natl Acad Sci USA 2015 Nov 23. pii: 201520779. [Epub ahead of print].
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
J Med Genet 2015 Sep 4. pii: jmedgenet-2015-103292. doi: 10.1136/jmedgenet-2015-103292.
Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK.
Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and mental retardation.
Hum Mutat 2015 May 23. doi: 10.1002/humu.22816.
Rucker JJ, Tansey KE, Rivera M, Pinto D, Cohen-Woods S, Uher R, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, Barnes MR, Preisig M, Mors O, Maier W, Rice J, Rietschel M, Holsboer F, Farmer AE, Craig IW, Scherer SW, McGuffin P, Breen G.
Phenotypic association analyses with copy number variation in recurrent depressive disorder.
Biol Psychiatry 2015 Feb 25. pii: S0006-3223(15)00150-X. doi: 10.1016/j.biopsych.2015.02.025.
2015
The PsychENCODE consortium, Akbarian S, Liu C, Knowles JA, Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Nairn AC, Abyzov A, Pochareddy S, Prabhakar S, Weissman S, Sullivan PF, State MW, Weng Z, Peters MA, White KP, Gerstein MB, Amiri A, Armoskus C, Ashley-Koch AE, Bae T, Beckel-Mitchener A, Berman BP, Coetzee GA, Coppola G, Francoeur N, Fromer M, Gao R, Grennan K, Herstein J, Kavanagh DH, Ivanov NA, Jiang Y, Kitchen RR, Kozlenkov A, Kundakovic M, Li M, Li Z, Liu S, Mangravite LM, Mattei E, Markenscoff-Papadimitriou E, Navarro FC, North N, Omberg L, Panchision D, Parikshak N, Poschmann J, Price AJ, Purcaro M, Reddy TE, Roussos P, Schreiner S, Scuderi S, Sebra R, Shibata M, Shieh AW, Skarica M, Sun W, Swarup V, Thomas A, Tsuji J, van Bakel H, Wang D, Wang Y, Wang K, Werling DM, Willsey AJ, Witt H, Won H, Wong CC, Wray GA, Wu EY, Xu X, Yao L, Senthil G, Lehner T, Sklar P, Sestan N.
The PsychENCODE project.
Nat Neurosci 2015 Nov 25;18(12):1707-12. doi: 10.1038/nn.4156.
Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium; British Society of Pediatric and Adolescent Rheumatology BSPAR Study Group.
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
Proc Natl Acad Sci USA 2015 Nov 23. pii: 201520779. [Epub ahead of print].
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
J Med Genet 2015 Sep 4. pii: jmedgenet-2015-103292. doi: 10.1136/jmedgenet-2015-103292.
Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK.
Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and mental retardation.
Hum Mutat 2015 May 23. doi: 10.1002/humu.22816.
Rucker JJ, Tansey KE, Rivera M, Pinto D, Cohen-Woods S, Uher R, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, Barnes MR, Preisig M, Mors O, Maier W, Rice J, Rietschel M, Holsboer F, Farmer AE, Craig IW, Scherer SW, McGuffin P, Breen G.
Phenotypic association analyses with copy number variation in recurrent depressive disorder.
Biol Psychiatry 2015 Feb 25. pii: S0006-3223(15)00150-X. doi: 10.1016/j.biopsych.2015.02.025.
2014
Merikangas AK, Segurado R, Heron EA, Anney RJL, Paterson AD, Cook EH, Pinto D, Scherer SW, Szatmari P, Gill M, Corvin A, Gallagher L.
The complexities of phenotypic manifestations of rare genic CNVs in autism spectrum disorder.
Mol Psychiatry 2014 Nov 25, Advance Online Publication; doi: 10.1038/mp.2014.150.
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.
Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments.
PLoS Genet 2014 Sep 4;10(9):e1004580.
Bacchelli E, Ceroni F, Pinto D, Lomartire S, Giannandrea M, D’Adamo P, Bonora E, Parchi P, Tancredi R, Battaglia A, Maestrini E.
A CTNNA3 compound heterozygous deletion implicates a role for aT-catenin in susceptibility to autism spectrum disorder.
J Neurodev Disord 2014;6(1):17. doi: 10.1186/1866-1955-6-17. Epub 2014 Jul 10.
Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J, AGP Consortium, Glessner J, Hakonarson H.
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
Nat Commun 2014 Jun 13;5:4074. doi: 10.1038/ncomms5074.
Pinto D*, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C*, Scherer SW*.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24.
Interactive versions of figures 4 and 5
Blog: ‘Understanding the Roots of Autism’
Mt. Sinai News
Interagency Autism Coordinating Commitee (IACC) – Selected as one of the “2014 Scientific Advances that represent significant progress in the field.”
Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RKC, Scherer SW.
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Nat Genet 2014 May. doi: 10.1038/ng.2980. [Epub ahead of print]
Buxbaum JD, Bolshakova N, Brownfeld JM, Anney R, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Lehner T, Nurnberger JI, Oliveira G, Pinto D, Poustka F, Scherer SW, Shih A, Sutcliffe JS, Szatmari P, Vicente AM, Vieland V and Gallagher L.
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.
Mol Autism 2014 May, 5:34. doi:10.1186/2040-2392-5-34.
Correia CT, Conceição IC, Oliveira B, Coelho J, Sousa I, Sequeira AF, Almeida J, Café C, Duque F, Mouga S, Roberts W, Gao K, Lowe JK, Thiruvahindrapuram B, Walker S, Marshall CR, Pinto D, Nurnberger JI, Scherer SW, Geschwind DH, Oliveira G, Vicente AM.
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.
Mol Autism 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28.
Ceroni F, Sagar A, Simpson NH, Gawthrope AJT, Newbury DF, Pinto D, Francis SM, Tessman DC, Cook EH, Monaco AP, Maestrini E, Pagnamenta AT, Jacob S.
A deletion involving CD38 and BST1 results in a fusion-transcript in a patient with autism and asthma.
Autism Res 2014 Apr;7(2):254-63. doi: 10.1002/aur.1365. Epub 2014 Mar 13.
GCAN
Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Eur J Hum Genet 2014 Feb 19. doi: 10.1038/ejhg.2014.1.
Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth EF, Slof-Op ‘t Landt MC, Hudson JI, Reichborn-Kjennerud T, Knudsen GP, Monteleone P, Kaplan AS, Karwautz A, Hakonarson H, Berrettini WH, Guo Y, Li D, Schork NJ, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker JH, Cone RD, Dackor J, Desocio JE, Hilliard CE, O’Toole JK, Pantel J, Szatkiewicz JP, Taico C, Zerwas S, Trace SE, Davis OS, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys MK, Danner UN, de Kovel C, Hendriks J, Koeleman BP, Ophoff RA, Strengman E, van Elburg AA, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom PE, Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H, Slachtova L, Martaskova D, Kennedy JL, Levitan RD, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann HE, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet R, Gaborieau V, Dick DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold A, Reinvang I, Steen VM, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer SW, Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Courtet P, Guillaume S, Jaussent I, Finan C, Kalsi G, Roberts M, Logan DW, Peltonen L, Ritchie GR, Barrett JC, The Wellcome Trust Case Control Consortium 3, Estivill X, Hinney A, Sullivan PF, Collier DA, Zeggini E, Bulik CM.
A genome-wide association study of anorexia nervosa.
Mol Psychiatry 2014 Feb 11. doi: 10.1038/mp.2013.187.
Oei L, Hsu YH, Styrkarsdottir U, Eussen BH, de Klein A, Peters MJ, Halldorsson B, Liu CT, Alonso N, Kaptoge SK, Thorleifsson G, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Kruk M, Lewis JR, Patel MS, Scollen S, Svensson O, Trompet S, van Schoor NM, Zhu K, Buckley BM, Cooper C, Ford I, Goltzman D, González-Macías J, Langdahl BL, Leslie WD, Lips P, Lorenc RS, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Slagboom PE, Garcia-Ibarbia C, Ingvarsson T, Johannsdottir H, Luben R, Medina-Gómez C, Arp P, Nandakumar K, Palsson ST, Sigurdsson G, van Meurs JB, Zhou Y, Hofman A, Jukema JW, Pols HA, Prince RL, Cupples LA, Marshall CR, Pinto D, Sato D, Scherer SW, Reeve J, Thorsteinsdottir U, Karasik D, Richards JB, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F, Estrada K.
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
J Med Genet 2014 Feb;51(2):122-31.
2013
Rucker JJH, Breen G, Pinto D, Pedroso I, Lewis CM, Cohen-Woods S, Uher R, Schosser A, Rivera M, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, Muglia P, Barnes MR, Perry J, Preisig M, Mors O, Gill M, Maier W, Rice J, Rietschel M, Holsboer F, Farmer AE, Craig IW, Scherer SW, McGuffin P.
Genome-wide association analysis of copy number variation in recurrent depressive disorder.
Mol Psychiatry 2013 Feb;18(2):183-9.
2012
Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI Jr, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B.
Individual common variants exert weak effects on risk for autism spectrum disorders.
Hum Mol Genet 2012 Nov 1;21(21):4781-92.
Ghani M*, Pinto D*, Lee JH, Grinberg Y, Sato C, Moreno D, Scherer SW, Mayeux R, George-Hyslop PS, Rogaeva E.
Genome-wide survey of large rare copy number variations in Alzheimer’s disease among Caribbean Hispanics.
G3 (Bethesda) 2012 Jan 1;2(1):71-8.
2011
Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, MacDonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L.
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Nature Biotech 2011 May 8;29(6):512-20.
Seno MM, Hu P, Gwadry FG, Pinto D, Marshall CR, Cassallo G, Scherer SW.
Gene and miRNA expression profiles in autism spectrum disorders.
Brain Res 2011 Mar 22;1380:85-97.
Bigham A, Bauchet M, Pinto D, Mao X, Akey JM, Mei R, Scherer SW, Julian CG, Wilson MJ, Herráez DL, Brutsaert T, Parra EJ, Moore LG, Shriver MD.
Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data.
PLoS Genet 2011 Sep 9;6(9). pii: e1001116.
2010
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C.
Functional impact of global rare copy number variation in autism spectrum disorder.
Nature 2010 Jul 15;466(7304):368-72.
Conrad DF*, Pinto D*, Redon R, Feuk L, Gokumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, MacArthur DG, MacDonald JR, Onyiah I, Pang A, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME.
Origins and functional impact of copy number variation in the human genome.
Nature 2010 Apr 1;464(7289):704-12.
2009
Pinto D, Kasteleijn-Nolst Trenité DG, Lindhout D.
Endophenotype Strategy in Epilepsy Genetics.
In: The Handbook of Neuropsychiatric Biomarkers, Endophenotypes and Genes. Springer, 2009, XIV, 274p, Ritsner, Michael S. (Ed.), Chapter 45, Vol 4:135-149.
2007
Pinto D, Marshall C, Feuk L, Scherer SW.
Copy-number variation in control population cohorts.
Hum Mol Genet 2007 Oct 15;16 Spec No. 2:R168-73.
Pinto D, Kasteleijn-Nolst-Trenité DG, Cordell HJ, Mattheisen M, Strauch K, Lindhout D, Koeleman BP.
Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci.
Genet Epidemiol 2007;31(1):42-50.
2006
De Haan G-J*, Pinto D*#, Carton D, Bader A, Witte J, Peters E, Van Erp G, Vandereyken W, Boezeman E, Wapenaar MC, Boon P, Halley D, Koeleman BPC, Lindhout D.
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed over 25 years.
Epilepsia 2006 May; 47(5):851-9.
# corresponding author
2005
Pinto D, Westland B, De Haan G-J, Rudolf G, Martins da Silva B, Hirsch E, Lindhout D, Kasteleijn-Nolst Trenite DG, Koeleman BPC.
Genome-wide linkage scan of epilepsy-related photoparoxysmal EEG response: evidence for linkage on chromosomes 7q32 and 16p13.
Hum Mol Genet 2005 Jan 1; 14(1):171-178.
Team
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Mount Sinai
Associate Scientist
mount.sinai@mssm.edu
Resources & Related Links
Postdocs:
Postdoc Handbook
Subsidized Housing
Career development
Postdoc Funding Oportunities & Resources (check also the google excel spreadsheet; same page)
Office of Postdoctoral Affairs
Recreation
Psychiatry Residency program: Psychiatric Residency + PhD Track
Other sites holding lists of awards, grants and fellowships – various career stages:
– 500womenscientists.org
Department of Psychiatry
Department of Genetics and Genomic Sciences
High-performance Computing Clusters – Minerva supercomputer – BODE, MOTHRA, MANDA
Icahn Institute for Genomics and Multiscale Biology
Genetics and Genomic Sciences Graduate program
Neuroscience Graduate program
Graduate Student Handbook
Positions
Computational Genetics and Genomics of Autism and Epilepsy
Post-doctoral researcher to lead NIMH-funded project related to CNV/SNV/indel discovery in autism and epilepsy using exome and whole-genome sequencing (WGS) data generated in our Lab as part of our clinical genomics program (pintolab.mssm.edu/nddprogram), and further integrate with external data. Relevant findings will be followed-up in IPSC-derived neural progenitor cells. The position requires a quantitative background and/or extensive experience with genomic data analysis. Experience in molecular biology and functional validation of disease-associated variants, including cell culture, is a plus but not required. The selected applicant will work within a multidisciplinary team, and interact with clinical scientists, clinical research coordinators and database manager. This position requires demonstrated experience with UNIX, Python, and/or C/C++, and R, and expertise with exome or WGS data.
Interested candidates can send their CV, a short description of research interests and experience, and contact information for three references by email to dalila.pinto@mssm.edu. Application Deadline: New.
Computational Genetics and Genomics of Schizophrenia
Post-doctoral researcher to lead NIMH-funded project related to the generation and analysis of short-read and long-read RNAseq in brain samples. The position involves integrating non-coding and coding RNA from large scale data with prior genetic knowledge and epigenetic data, as well as quantifying isoforms, co-expression and network-based analyses and modeling to assess the role of non-coding RNA in gene regulatory networks. The selected applicant will work within a multidisciplinary team and participate in the PsychENCODE consortium (http://psychencode.org/). This position requires demonstrated experience with UNIX, Python, C/C++ and R, and expertise with RNAseq data.
Interested candidates can send their CV, a short description of research interests and experience, and contact information for three references by email to dalila.pinto@mssm.edu. Application Deadline: New.
For a listing of postdoc resources at Mt Sinai, consult our selection at pintolab.mssm.edu/contact.
Graduate students
Graduate student positions are frequently available. We accept rotation students from Mount Sinai PhD, MD-PhD, MD, & MS programs. Students interested in a rotation should contact Dr. Dalila Pinto (dalila.pinto@mssm.edu). The Graduate Student Handbook is available online.
Deliveries:
Pinto Lab
The Hess Center for Science and Medicine
1470 Madison Avenue, S8-302 (lab), S8-115 (office)
New York, NY 10029
Mail Address:
Pinto Lab
One Gustave L. Levy Place Box 1230
New York, NY 10029
