532:; Stone, Jennifer L.; Visscher, Peter M.; O'Donovan, Michael C.; Sullivan, Patrick F.; Sklar, Pamela; (Leader), Shaun M. Purcell; Stone, Jennifer L.; Sullivan, Patrick F.; Ruderfer, Douglas M.; McQuillin, Andrew; Morris, Derek W.; O’Dushlaine, Colm T.; Corvin, Aiden; Holmans, Peter A.; O’Donovan, Michael C.; Sklar, Pamela; Wray, Naomi R.; Macgregor, Stuart; Sklar, Pamela; Sullivan, Patrick F.; O’Donovan, Michael C.; Visscher, Peter M.; Gurling, Hugh; Blackwood, Douglas H. R.; Corvin, Aiden; Craddock, Nick J.; Gill, Michael; Hultman, Christina M.; Kirov, George K.; Lichtenstein, Paul; McQuillin, Andrew; Muir, Walter J.; O'Donovan, Michael C.; Owen, Michael J.; Pato, Carlos N.; Scolnick, Edward M.; Clair, David St; Stone, Jennifer L.; Sullivan, Patrick F.; (Leader), Pamela Sklar; O'Donovan, Michael C.; Kirov, George K.; Craddock, Nick J.; Holmans, Peter A.; Williams, Nigel M.; Georgieva, Lyudmila; Nikolov, Ivan; Norton, N.; Williams, H.; Toncheva, Draga; Milanova, Vihra; Owen, Michael J.; Hultman, Christina M.; Lichtenstein, Paul; Thelander, Emma F.; Sullivan, Patrick; Morris, Derek W.; O'Dushlaine, Colm T.; Kenny, Elaine; Quinn, Emma M.; Gill, Michael; Corvin, Aiden; McQuillin, Andrew; Choudhury, Khalid; Datta, Susmita; Pimm, Jonathan; Thirumalai, Srinivasa; Puri, Vinay; Krasucki, Robert; Lawrence, Jacob; Quested, Digby; Bass, Nicholas; Gurling, Hugh; Crombie, Caroline; Fraser, Gillian; Kuan, Soh Leh; Walker, Nicholas; Clair, David St; Blackwood, Douglas H. R.; Muir, Walter J.; McGhee, Kevin A.; Pickard, Ben; Malloy, Pat; Maclean, Alan W.; Beck, Margaret Van; Wray, Naomi R.; Macgregor, Stuart; Visscher, Peter M.; Pato, Michele T.; Medeiros, Helena; Middleton, Frank; Carvalho, Celia; Morley, Christopher; Fanous, Ayman; Conti, David; Knowles, James A.; Ferreira, Carlos Paz; Macedo, Antonio; Azevedo, M. Helena; Pato, Carlos N.; Stone, Jennifer L.; Ruderfer, Douglas M.; Kirby, Andrew N.; Ferreira, Manuel A. R.; Daly, Mark J.; Sklar, Pamela; Stone, Jennifer L.; Chambert, Kimberly; Ruderfer, Douglas M.; Kuruvilla, Finny; Gabriel, Stacey B.; Ardlie, Kristin; Moran, Jennifer L.; Daly, Mark J.; Scolnick, Edward M.; Sklar, Pamela (2009).
404:
Patrick F.; Sklar, Pamela; (Leader), Shaun M. Purcell; Ruderfer, Douglas M.; Korn, Joshua; Kirov, George K.; Macgregor, Stuart; McQuillin, Andrew; Morris, Derek W.; O’Dushlaine, Colm T.; Daly, Mark J.; Visscher, Peter M.; Holmans, Peter A.; O’Donovan, Michael C.; Sullivan, Patrick F.; Sklar, Pamela; (Leader), Shaun M. Purcell; Gurling, Hugh; Corvin, Aiden; Blackwood, Douglas H. R.; Craddock, Nick J.; Gill, Michael; Hultman, Christina M.; Kirov, George K.; Lichtenstein, Paul; McQuillin, Andrew; O’Donovan, Michael C.; Owen, Michael J.; Pato, Carlos N.; Purcell, Shaun M.; Scolnick, Edward M.; Clair, David St; Sullivan, Patrick F.; (Leader), Pamela Sklar; O’Donovan, Michael C.; Kirov, George K.; Craddock, Nick J.; Holmans, Peter A.; Williams, Nigel M.; Georgieva, Lucy; Nikolov, Ivan; Norton, N.; Williams, H.; Toncheva, Draga; Milanova, Vihra; Owen, Michael J.; Hultman, Christina M.; Lichtenstein, Paul; Thelander, Emma F.; Sullivan, Patrick; Morris, Derek W.; O’Dushlaine, Colm T.; Kenny, Elaine; Waddington, John L.; Gill, Michael; Corvin, Aiden; McQuillin, Andrew; Choudhury, Khalid; Datta, Susmita; Pimm, Jonathan; Thirumalai, Srinivasa; Puri, Vinay; Krasucki, Robert; Lawrence, Jacob; Quested, Digby; Bass, Nicholas; Curtis, David; Gurling, Hugh; Crombie, Caroline; Fraser, Gillian; Kwan, Soh Leh; Walker, Nicholas; Clair, David St; Blackwood, Douglas H. R.; Muir, Walter J.; McGhee, Kevin A.; Pickard, Ben; Malloy, Pat; Maclean, Alan W.; Beck, Margaret Van; Visscher, Peter M.; Macgregor, Stuart; Pato, Michele T.; Medeiros, Helena; Middleton, Frank; Carvalho, Celia; Morley, Christopher; Fanous, Ayman; Conti, David; Knowles, James A.; Ferreira, Carlos Paz; Macedo, Antonio; Azevedo, M. Helena; Pato, Carlos N.; Ruderfer, Douglas M.; Korn, Joshua; McCarroll, Steve A.; Daly, Mark; Purcell, Shaun M.; Sklar, Pamela; Purcell, Shaun M.; Chambert, Kimberly; Ruderfer, Douglas M.; Korn, Joshua; McCarroll, Steve A.; Gates, Casey; Gabriel, Stacey B.; Mahon, Scott; Ardlie, Kristen; Daly, Mark J.; Scolnick, Edward M.; Sklar, Pamela (2008).
585:
Hamshere, Marian L; Nimgaonkar, Vishwajit L; Moskvina, Valentina; Thase, Michael E; Caesar, Sian; Sachs, Gary S; Franklin, Jennifer; Gordon-Smith, Katherine; Ardlie, Kristin G; Gabriel, Stacey B; Fraser, Christine; Blumenstiel, Brendan; Defelice, Matthew; Breen, Gerome; Gill, Michael; Morris, Derek W; Elkin, Amanda; Muir, Walter J; McGhee, Kevin A; Williamson, Richard; MacIntyre, Donald J; MacLean, Alan W; Clair, David St; Robinson, Michelle; Beck, Margaret Van; Pereira, Ana C P; Kandaswamy, Radhika; McQuillin, Andrew; Collier, David A; Bass, Nicholas J; Young, Allan H; Lawrence, Jacob; Ferrier, I Nicol; Anjorin, Adebayo; Farmer, Anne; Curtis, David; Scolnick, Edward M; McGuffin, Peter; Daly, Mark J; Corvin, Aiden P; Holmans, Peter A; Blackwood, Douglas H; Gurling, Hugh M; Owen, Michael J; Purcell, Shaun M; Sklar, Pamela; Craddock, Nick (2008).
178:, Sklar co-founded the Stanley Center for Psychiatric Research and served as its genetics director. By studying thousands of affected individuals and comparing them with thousands of healthy people, she was the first to associate recurrent large deletions of DNA with the onset of schizophrenia and also found the first broadly reproducible genetic variants in schizophrenia as well as bipolar disorder using genome-wide association studies. Sklar and her colleagues discovered a molecular basis for polygenicity in schizophrenia among both rare and common DNA alterations and that schizophrenia and bipolar disorder are genetically linked through DNA variants that contribute to both illnesses. In 2011, Sklar joined the
31:
187:, the largest international collaboration in the psychiatric community. She helped lead the consortium's working group on bipolar disorder. She also co-founded the International Schizophrenia Consortium. After she died, Icahn School of Medicine renamed their Division of Psychiatric Genomics in her honor.
228:
Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, O'Dushlaine C, Chambert K, Bergen SE, Kähler A, Duncan L, Stahl E, Genovese G, Fernández E, Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E, Shakir K, Garimella K, Fennell T, DePristo M, Grant SG, Haggarty SJ, Gabriel S,
210:
Ferreira MAR, O’Donovan MC, Meng YA, Jones IR, et al. Purcell SP, Sklar P and
Craddock N (2008) Collaborative genome-wide association analysis of 10,596 individuals support a role for Ankyrin-G (ANK3) and the alpha-1C subunit of the L-type voltage-gated calcium channel (CACNA1C) in bipolar disorder.
655:
Purcell, Shaun M.; Moran, Jennifer L.; Fromer, Menachem; Ruderfer, Douglas; Solovieff, Nadia; Roussos, Panos; O’Dushlaine, Colm; Chambert, Kimberly; Bergen, Sarah E.; Kähler, Anna; Duncan, Laramie; Stahl, Eli; Genovese, Giulio; Fernández, Esperanza; Collins, Mark O.; Komiyama, Noboru H.; Choudhary,
224:
Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Grant SG, Hannon E, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Kirov G, Palotie A, McCarroll
656:
Jyoti S.; Magnusson, Patrik K. E.; Banks, Eric; Shakir, Khalid; Garimella, Kiran; Fennell, Tim; DePristo, Mark; Grant, Seth G. N.; Haggarty, Stephen J.; Gabriel, Stacey; Scolnick, Edward M.; Lander, Eric S.; Hultman, Christina M.; Sullivan, Patrick F.; McCarroll, Steven A.; Sklar, Pamela (2014).
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Stone, Jennifer L.; O’Donovan, Michael C.; Gurling, Hugh; Kirov, George K.; Blackwood, Douglas H. R.; Corvin, Aiden; Craddock, Nick J.; Gill, Michael; Hultman, Christina M.; Lichtenstein, Paul; McQuillin, Andrew; Pato, Carlos N.; Ruderfer, Douglas M.; Owen, Michael J.; Clair, David St; Sullivan,
584:
Ferreira, Manuel A R; Consortium, Wellcome Trust Case
Control; O'Donovan, Michael C; Meng, Yan A; Jones, Ian R; Ruderfer, Douglas M; Jones, Lisa; Fan, Jinbo; Kirov, George; Perlis, Roy H; Green, Elaine K; Smoller, Jordan W; Grozeva, Detelina; Stone, Jennifer; Nikolov, Ivan; Chambert, Kimberly;
182:
and became founding chief of the
Division of Psychiatric Genomics there. The division's scope includes stem cell biology, neurocognition, statistical genetics, and imaging approaches to elucidate the biological variation causing mental illness. While at Mount Sinai, Sklar published papers
173:
Sklar's research and clinical work focused on characterizing the biology underlying mental illnesses, in particular schizophrenia and bipolar disorder. Her studies of DNA variation have identified both common and rare genetic changes associated with these disorders. While working at the
129:(born July 20, 1959, in Baltimore, Maryland - died November 20, 2017, in New York City) was an American psychiatrist and neuroscientist. She was Chair of the Department of Genetics and Genomic Sciences and professor of psychiatry, neuroscience, and genetic and genomic sciences at the
217:
International
Schizophrenia Consortium. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF, Sklar P (2009) Common polygenic variation contributes to risk of schizophrenia that overlaps with bipolar disorder. Nature
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Psychiatric GWAS Consortium
Bipolar Disorder Working Group. (2011) Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet. 43:977-83.
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International
Schizophrenia Consortium, Stone JL, O'Donovan MC, Gurling H, Kirov GK, et al., Sklar P (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455:237-41.
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133:. She was also chief of the Division of Psychiatric Genomics at the Icahn School of Medicine at Mount Sinai. Sklar is known for her large-scale gene discovery studies in
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Scolnick EM, Lander ES, Hultman CM, Sullivan PF, McCarroll SA, Sklar P. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014 506:185-90
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368:"Genome-wide Studies Identify 11 New Genetic Links to Schizophrenia and Bipolar Disorder - Brain & Behavior Research Foundation (Formerly NARSAD)"
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SA, Holmans P, Sklar P, Owen MJ, Purcell SM, O'Donovan MC. De novo mutations in schizophrenia implicate synaptic networks. Nature. 2014 506:179-84.
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demonstrating that schizophrenia is linked to many ultra-rare genetic variants. Sklar served as a principal investigator for the
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831:"Neurobiology of Mental Illness - Dennis S. Charney; Joseph D. Buxbaum; Pamela Sklar; Eric J. Nestler - Oxford University Press"
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458:"Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4"
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587:"Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder"
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and for making some of the first statistically meaningful gene identifications in both mental illnesses.
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in 1981. She went on to complete her MD and then her PhD in neuroscience at
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De novo mutations in schizophrenia implicate synaptic networks - Nature
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Group, Psychiatric GWAS Consortium
Bipolar Disorder Working (2011).
161:, where she also carried out postdoctoral work in the laboratory of
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Sklar completed her bachelor's degree in classics and philosophy at
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853:
658:"A polygenic burden of rare disruptive mutations in schizophrenia"
849:"Two Mount Sinai Physicians Elected To The Institute Of Medicine"
335:"Studies show no smoking guns, or lots of them, in schizophrenia"
316:
Dr. Pamela Sklar, Psychiatrist in New York, NY | US News
Doctors
194:, and published more than 140 peer-reviewed scientific papers.
706:"Genetic Links Seen Between Bipolar Illness and Schizophrenia"
354:"Gene-Hunters Find Hope and Hurdles in Schizophrenia Studies"
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738:"Department of Psychiatry - Icahn School of Medicine"
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787:What is the PGC? — Psychiatric Genomics Consortium
157:. She carried out her residency in psychiatry at
900:Icahn School of Medicine at Mount Sinai faculty
806:"Celebrating Trailblazer Pamela Sklar, MD, PhD"
910:St. John's College (Annapolis/Santa Fe) alumni
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387:"Gene Hunt Hints at Cause of Bipolar Disorder"
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242:"Obituary: Pamela Sklar (1959–2017)"
159:Columbia University Medical School
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385:Wade, Nicholas (18 August 2008).
155:Johns Hopkins School of Medicine
726:– via The Globe and Mail.
352:Wade, Nicholas (31 July 2008).
185:Psychiatric Genomics Consortium
915:American women neuroscientists
192:Neurobiology of Mental Illness
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756:"Schizophrenia's Intricacies"
920:American women psychiatrists
199:National Academy of Medicine
930:21st-century American women
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294:10.1016/j.cell.2017.11.046
277:"Pamela Sklar (1959–2017)"
259:10.1038/d41586-018-01382-x
190:Sklar edited the textbook
935:Scientists from Baltimore
275:Nestler, Eric J. (2017).
240:Daly, Mark (2018-01-30).
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925:American women academics
895:American neuroscientists
389:– via NYTimes.com.
356:– via NYTimes.com.
197:She was elected to the
890:American psychiatrists
205:Selected publications
211:Nat Genet 40:1056-8.
674:10.1038/nature12975
639:www.bio-itworld.com
550:10.1038/nature08185
528:Purcell, Shaun M.;
422:10.1038/nature07239
52:Baltimore, Maryland
810:Inside Mount Sinai
792:2010-06-14 at the
710:Consumer HealthDay
510:has generic name (
321:2014-07-14 at the
151:St. John's College
76:St. John's College
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372:bbrfoundation.org
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