Jai Rup Singh

Jai Rup Singh

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Jai Rup Singh

Jai Rup Singh

Publications by authors named "Jai Rup Singh"

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Associations of autozygosity with a broad range of human phenotypes.

Authors:
David W Clark Yukinori Okada Kristjan H S Moore Dan Mason Nicola Pirastu Ilaria Gandin Hannele Mattsson Catriona L K Barnes Kuang Lin Jing Hua Zhao Patrick Deelen Rebecca Rohde Claudia Schurmann Xiuqing Guo Franco Giulianini Weihua Zhang Carolina Medina-Gomez Robert Karlsson Yanchun Bao Traci M Bartz Clemens Baumbach Ginevra Biino Matthew J Bixley Marco Brumat Jin-Fang Chai Tanguy Corre Diana L Cousminer Annelot M Dekker David A Eccles Kristel R van Eijk Christian Fuchsberger He Gao Marine Germain Scott D Gordon Hugoline G de Haan Sarah E Harris Edith Hofer Alicia Huerta-Chagoya Catherine Igartua Iris E Jansen Yucheng Jia Tim Kacprowski Torgny Karlsson Marcus E Kleber Shengchao Alfred Li Ruifang Li-Gao Anubha Mahajan Koichi Matsuda Karina Meidtner Weihua Meng May E Montasser Peter J van der Most Matthias Munz Teresa Nutile Teemu Palviainen Gauri Prasad Rashmi B Prasad Tallapragada Divya Sri Priyanka Federica Rizzi Erika Salvi Bishwa R Sapkota Daniel Shriner Line Skotte Melissa C Smart Albert Vernon Smith Ashley van der Spek Cassandra N Spracklen Rona J Strawbridge Salman M Tajuddin Stella Trompet Constance Turman Niek Verweij Clara Viberti Lihua Wang Helen R Warren Robyn E Wootton Lisa R Yanek Jie Yao Noha A Yousri Wei Zhao Adebowale A Adeyemo Saima Afaq Carlos Alberto Aguilar-Salinas Masato Akiyama Matthew L Albert Matthew A Allison Maris Alver Tin Aung Fereidoun Azizi Amy R Bentley Heiner Boeing Eric Boerwinkle Judith B Borja Gert J de Borst Erwin P Bottinger Linda Broer Harry Campbell Stephen Chanock Miao-Li Chee Guanjie Chen Yii-Der I Chen Zhengming Chen Yen-Feng Chiu Massimiliano Cocca Francis S Collins Maria Pina Concas Janie Corley Giovanni Cugliari Rob M van Dam Anna Damulina Maryam S Daneshpour Felix R Day Graciela E Delgado Klodian Dhana Alexander S F Doney Marcus Dörr Ayo P Doumatey Nduna Dzimiri S Sunna Ebenesersdóttir Joshua Elliott Paul Elliott Ralf Ewert Janine F Felix Krista Fischer Barry I Freedman Giorgia Girotto Anuj Goel Martin Gögele Mark O Goodarzi Mariaelisa Graff Einat Granot-Hershkovitz Francine Grodstein Simonetta Guarrera Daniel F Gudbjartsson Kamran Guity Bjarni Gunnarsson Yu Guo Saskia P Hagenaars Christopher A Haiman Avner Halevy Tamara B Harris Mehdi Hedayati David A van Heel Makoto Hirata Imo Höfer Chao Agnes Hsiung Jinyan Huang Yi-Jen Hung M Arfan Ikram Anuradha Jagadeesan Pekka Jousilahti Yoichiro Kamatani Masahiro Kanai Nicola D Kerrison Thorsten Kessler Kay-Tee Khaw Chiea Chuen Khor Dominique P V de Kleijn Woon-Puay Koh Ivana Kolcic Peter Kraft Bernhard K Krämer Zoltán Kutalik Johanna Kuusisto Claudia Langenberg Lenore J Launer Deborah A Lawlor I-Te Lee Wen-Jane Lee Markus M Lerch Liming Li Jianjun Liu Marie Loh Stephanie J London Stephanie Loomis Yingchang Lu Jian'an Luan Reedik Mägi Ani W Manichaikul Paolo Manunta Gísli Másson Nana Matoba Xue W Mei Christa Meisinger Thomas Meitinger Massimo Mezzavilla Lili Milani Iona Y Millwood Yukihide Momozawa Amy Moore Pierre-Emmanuel Morange Hortensia Moreno-Macías Trevor A Mori Alanna C Morrison Taulant Muka Yoshinori Murakami Alison D Murray Renée de Mutsert Josyf C Mychaleckyj Mike A Nalls Matthias Nauck Matt J Neville Ilja M Nolte Ken K Ong Lorena Orozco Sandosh Padmanabhan Gunnar Pálsson James S Pankow Cristian Pattaro Alison Pattie Ozren Polasek Neil Poulter Peter P Pramstaller Lluis Quintana-Murci Katri Räikkönen Sarju Ralhan Dabeeru C Rao Wouter van Rheenen Stephen S Rich Paul M Ridker Cornelius A Rietveld Antonietta Robino Frank J A van Rooij Daniela Ruggiero Yasaman Saba Charumathi Sabanayagam Maria Sabater-Lleal Cinzia Felicita Sala Veikko Salomaa Kevin Sandow Helena Schmidt Laura J Scott William R Scott Bahareh Sedaghati-Khayat Bengt Sennblad Jessica van Setten Peter J Sever Wayne H-H Sheu Yuan Shi Smeeta Shrestha Sharvari Rahul Shukla Jon K Sigurdsson Timo Tonis Sikka Jai Rup Singh Blair H Smith Alena Stančáková Alice Stanton John M Starr Lilja Stefansdottir Leon Straker Patrick Sulem Gardar Sveinbjornsson Morris A Swertz Adele M Taylor Kent D Taylor Natalie Terzikhan Yih-Chung Tham Gudmar Thorleifsson Unnur Thorsteinsdottir Annika Tillander Russell P Tracy Teresa Tusié-Luna Ioanna Tzoulaki Simona Vaccargiu Jagadish Vangipurapu Jan H Veldink Veronique Vitart Uwe Völker Eero Vuoksimaa Salma M Wakil Melanie Waldenberger Gurpreet S Wander Ya Xing Wang Nicholas J Wareham Sarah Wild Chittaranjan S Yajnik Jian-Min Yuan Lingyao Zeng Liang Zhang Jie Zhou Najaf Amin Folkert W Asselbergs Stephan J L Bakker Diane M Becker Benjamin Lehne David A Bennett Leonard H van den Berg Sonja I Berndt Dwaipayan Bharadwaj Lawrence F Bielak Murielle Bochud Mike Boehnke Claude Bouchard Jonathan P Bradfield Jennifer A Brody Archie Campbell Shai Carmi Mark J Caulfield David Cesarini John C Chambers Giriraj Ratan Chandak Ching-Yu Cheng Marina Ciullo Marilyn Cornelis Daniele Cusi George Davey Smith Ian J Deary Rajkumar Dorajoo Cornelia M van Duijn David Ellinghaus Jeanette Erdmann Johan G Eriksson Evangelos Evangelou Michele K Evans Jessica D Faul Bjarke Feenstra Mary Feitosa Sylvain Foisy Andre Franke Yechiel Friedlander Paolo Gasparini Christian Gieger Clicerio Gonzalez Philippe Goyette Struan F A Grant Lyn R Griffiths Leif Groop Vilmundur Gudnason Ulf Gyllensten Hakon Hakonarson Anders Hamsten Pim van der Harst Chew-Kiat Heng Andrew A Hicks Hagit Hochner Heikki Huikuri Steven C Hunt Vincent W V Jaddoe Philip L De Jager Magnus Johannesson Åsa Johansson Jost B Jonas J Wouter Jukema Juhani Junttila Jaakko Kaprio Sharon L R Kardia Fredrik Karpe Meena Kumari Markku Laakso Sander W van der Laan Jari Lahti Matthias Laudes Rodney A Lea Wolfgang Lieb Thomas Lumley Nicholas G Martin Winfried März Giuseppe Matullo Mark I McCarthy Sarah E Medland Tony R Merriman Andres Metspalu Brian F Meyer Karen L Mohlke Grant W Montgomery Dennis Mook-Kanamori Patricia B Munroe Kari E North Dale R Nyholt Jeffery R O'connell Carole Ober Albertine J Oldehinkel Walter Palmas Colin Palmer Gerard G Pasterkamp Etienne Patin Craig E Pennell Louis Perusse Patricia A Peyser Mario Pirastu Tinca J C Polderman David J Porteous Danielle Posthuma Bruce M Psaty John D Rioux Fernando Rivadeneira Charles Rotimi Jerome I Rotter Igor Rudan Hester M Den Ruijter Dharambir K Sanghera Naveed Sattar Reinhold Schmidt Matthias B Schulze Heribert Schunkert Robert A Scott Alan R Shuldiner Xueling Sim Neil Small Jennifer A Smith Nona Sotoodehnia E-Shyong Tai Alexander Teumer Nicholas J Timpson Daniela Toniolo David-Alexandre Tregouet Tiinamaija Tuomi Peter Vollenweider Carol A Wang David R Weir John B Whitfield Cisca Wijmenga Tien-Yin Wong John Wright Jingyun Yang Lei Yu Babette S Zemel Alan B Zonderman Markus Perola Patrik K E Magnusson André G Uitterlinden Jaspal S Kooner Daniel I Chasman Ruth J F Loos Nora Franceschini Lude Franke Chris S Haley Caroline Hayward Robin G Walters John R B Perry Tōnu Esko Agnar Helgason Kari Stefansson Peter K Joshi Michiaki Kubo James F Wilson

Nat Commun 2019 Oct 31;10(1):4957. Epub 2019 Oct 31.

Centre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh, EH8 9AG, Scotland.

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http://dx.doi.org/10.1038/s41467-019-12283-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823371PMC
October 2019

Genome-wide association study of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian diabetic heart study.

J Steroid Biochem Mol Biol 2016 Apr 15;158:149-156. Epub 2015 Dec 15.

Department of Pediatrics, Section of Genetics, College of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Department of Pharmaceutical Sciences, College of Pharmacy, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Oklahoma Center for Neuroscience, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769937PMC
April 2016

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.

Exp Eye Res 2012 Nov 3;104:82-8. Epub 2012 Oct 3.

Department of Human Genetics, Guru Nanak Dev University, GT Road, Amritsar, Punjab, India.

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http://dx.doi.org/10.1016/j.exer.2012.09.010DOI Listing
November 2012

Karyotypic findings in chronic myeloid leukemia cases undergoing treatment.

Indian J Hum Genet 2012 Jan;18(1):66-70

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India.

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http://dx.doi.org/10.4103/0971-6866.96654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385182PMC
January 2012

Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

Mol Vis 2009 4;15:476-81. Epub 2009 Mar 4.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650718PMC
April 2009

Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.

Genet Test Mol Biomarkers 2009 Feb;13(1):43-9

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://dx.doi.org/10.1089/gtmb.2008.0055DOI Listing
February 2009

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Mol Vis 2008 Jun 17;14:1171-5. Epub 2008 Jun 17.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435161PMC
June 2008

Ring chromosome 7 in an Indian woman.

J Intellect Dev Disabil 2008 Mar;33(1):87-94

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://dx.doi.org/10.1080/13668250701829829DOI Listing
March 2008

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

Mol Vis 2008 Feb 9;14:323-6. Epub 2008 Feb 9.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2255026PMC
February 2008

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

Mol Vis 2007 Oct 25;13:2035-40. Epub 2007 Oct 25.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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October 2007

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

Mol Vis 2007 Sep 11;13:1657-65. Epub 2007 Sep 11.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.molvis.org/molvis/v17/a151/mv-v17-a151-ding.pdf
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September 2007

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Mol Vis 2007 Jun 4;13:797-803. Epub 2007 Jun 4.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768755PMC
June 2007

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

Mol Vis 2006 Oct 18;12:1217-22. Epub 2006 Oct 18.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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October 2006

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

Mol Vis 2006 May 22;12:518-22. Epub 2006 May 22.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India.

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May 2006

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Am J Med Genet A 2006 Mar;140(6):558-66

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://dx.doi.org/10.1002/ajmg.a.31126DOI Listing
March 2006

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.

Mol Vis 2006 Feb 21;12:93-9. Epub 2006 Feb 21.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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February 2006

The Khatri Sikh Diabetes Study (SDS): study design, methodology, sample collection, and initial results.

Hum Biol 2006 Feb;78(1):43-63

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1353/hub.2006.0027DOI Listing
February 2006

Pyknodysostosis: visceral manifestations and simian crease.

Indian J Pediatr 2004 May;71(5):453-5

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://dx.doi.org/10.1007/bf02725641DOI Listing
May 2004