Carolin Purmann

Carolin Purmann

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Carolin Purmann

Carolin Purmann

Publications by authors named "Carolin Purmann"

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Local and global chromatin interactions are altered by large genomic deletions associated with human brain development.

Authors:
Xianglong Zhang Ying Zhang Xiaowei Zhu Carolin Purmann Michael S Haney Thomas Ward Arineh Khechaduri Jie Yao Sherman M Weissman Alexander E Urban

Nat Commun 2018 12 17;9(1):5356. Epub 2018 Dec 17.

Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, 94304, CA, USA.

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http://dx.doi.org/10.1038/s41467-018-07766-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297223PMC
December 2018

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).

Authors:
Gillian Reierson Jon Bernstein Wendy Froehlich-Santino Alexander Urban Carolin Purmann Sean Berquist Josh Jordan Ruth O'Hara Joachim Hallmayer

J Psychiatr Res 2017 08 16;91:139-144. Epub 2017 Mar 16.

Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2017.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469716PMC
August 2017

Using iPSCs and genomics to catch CNVs in the act.

Authors:
Alexander Eckehart Urban Carolin Purmann

Nat Genet 2015 Feb;47(2):100-1

Departments of Psychiatry and Behavioral Sciences and the Department of Genetics, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1038/ng.3204DOI Listing
February 2015

Large, rare chromosomal deletions associated with severe early-onset obesity.

Authors:
Elena G Bochukova Ni Huang Julia Keogh Elana Henning Carolin Purmann Kasia Blaszczyk Sadia Saeed Julian Hamilton-Shield Jill Clayton-Smith Stephen O'Rahilly Matthew E Hurles I Sadaf Farooqi

Nature 2010 Feb 6;463(7281):666-70. Epub 2009 Dec 6.

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

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http://www.nature.com/articles/nature08689
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http://dx.doi.org/10.1038/nature08689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108883PMC
February 2010

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

Authors:
Adam J de Smith Carolin Purmann Robin G Walters Richard J Ellis Susan E Holder Mieke M Van Haelst Angela F Brady Una L Fairbrother Mehul Dattani Julia M Keogh Elana Henning Giles S H Yeo Stephen O'Rahilly Philippe Froguel I Sadaf Farooqi Alexandra I F Blakemore

Hum Mol Genet 2009 Sep 4;18(17):3257-65. Epub 2009 Jun 4.

Section of Genomic Medicine, Imperial College London, Hammersmith Hospital Campus, London, UK.

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http://dx.doi.org/10.1093/hmg/ddp263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722987PMC
September 2009

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

Authors:
Cristen J Willer Elizabeth K Speliotes Ruth J F Loos Shengxu Li Cecilia M Lindgren Iris M Heid Sonja I Berndt Amanda L Elliott Anne U Jackson Claudia Lamina Guillaume Lettre Noha Lim Helen N Lyon Steven A McCarroll Konstantinos Papadakis Lu Qi Joshua C Randall Rosa Maria Roccasecca Serena Sanna Paul Scheet Michael N Weedon Eleanor Wheeler Jing Hua Zhao Leonie C Jacobs Inga Prokopenko Nicole Soranzo Toshiko Tanaka Nicholas J Timpson Peter Almgren Amanda Bennett Richard N Bergman Sheila A Bingham Lori L Bonnycastle Morris Brown Noël P Burtt Peter Chines Lachlan Coin Francis S Collins John M Connell Cyrus Cooper George Davey Smith Elaine M Dennison Parimal Deodhar Paul Elliott Michael R Erdos Karol Estrada David M Evans Lauren Gianniny Christian Gieger Christopher J Gillson Candace Guiducci Rachel Hackett David Hadley Alistair S Hall Aki S Havulinna Johannes Hebebrand Albert Hofman Bo Isomaa Kevin B Jacobs Toby Johnson Pekka Jousilahti Zorica Jovanovic Kay-Tee Khaw Peter Kraft Mikko Kuokkanen Johanna Kuusisto Jaana Laitinen Edward G Lakatta Jian'an Luan Robert N Luben Massimo Mangino Wendy L McArdle Thomas Meitinger Antonella Mulas Patricia B Munroe Narisu Narisu Andrew R Ness Kate Northstone Stephen O'Rahilly Carolin Purmann Matthew G Rees Martin Ridderstråle Susan M Ring Fernando Rivadeneira Aimo Ruokonen Manjinder S Sandhu Jouko Saramies Laura J Scott Angelo Scuteri Kaisa Silander Matthew A Sims Kijoung Song Jonathan Stephens Suzanne Stevens Heather M Stringham Y C Loraine Tung Timo T Valle Cornelia M Van Duijn Karani S Vimaleswaran Peter Vollenweider Gerard Waeber Chris Wallace Richard M Watanabe Dawn M Waterworth Nicholas Watkins Jacqueline C M Witteman Eleftheria Zeggini Guangju Zhai M Carola Zillikens David Altshuler Mark J Caulfield Stephen J Chanock I Sadaf Farooqi Luigi Ferrucci Jack M Guralnik Andrew T Hattersley Frank B Hu Marjo-Riitta Jarvelin Markku Laakso Vincent Mooser Ken K Ong Willem H Ouwehand Veikko Salomaa Nilesh J Samani Timothy D Spector Tiinamaija Tuomi Jaakko Tuomilehto Manuela Uda André G Uitterlinden Nicholas J Wareham Panagiotis Deloukas Timothy M Frayling Leif C Groop Richard B Hayes David J Hunter Karen L Mohlke Leena Peltonen David Schlessinger David P Strachan H-Erich Wichmann Mark I McCarthy Michael Boehnke Inês Barroso Gonçalo R Abecasis Joel N Hirschhorn

Nat Genet 2009 Jan 14;41(1):25-34. Epub 2008 Dec 14.

Genetic Investigation of ANthropometric Traits Consortium.

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http://dx.doi.org/10.1038/ng.287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2695662PMC
January 2009

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.

Authors:
Birgitt Schüle Hong Hua Li Claudia Fisch-Kohl Carolin Purmann Uta Francke

Am J Hum Genet 2007 Sep 2;81(3):492-506. Epub 2007 Aug 2.

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1086/520063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950824PMC
September 2007