Murim Choi

Murim Choi

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Murim Choi

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome.

J Allergy Clin Immunol Pract 2019 Mar 8;7(3):1034-1037.e1. Epub 2018 Jun 8.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea; Seoul National University Cancer Research Institute, Seoul, Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2018.05.029DOI Listing
March 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial Mutation in a Family.

Ann Clin Lab Sci 2018 07;48(4):546-548

Department of Pediatrics, Pediatric Neuroscience Center, Seoul National University Children's Hospital.

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July 2018

Genomic analysis of synchronous intracranial meningiomas with different histological grades.

J Neurooncol 2018 May 8;138(1):41-48. Epub 2018 Feb 8.

Department of Neurosurgery, Seoul National University College of Medicine, Seoul National University Hospital, 103 Daehak-ro (Yeongeon-dong), Jongno-gu, Seoul, South Korea.

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http://dx.doi.org/10.1007/s11060-018-2772-1DOI Listing
May 2018

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.

Brain Dev 2018 May 8;40(5):429-432. Epub 2018 Feb 8.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.01.006DOI Listing
May 2018

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Brain Dev 2018 May 10;40(5):383-390. Epub 2018 Feb 10.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183002
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http://dx.doi.org/10.1016/j.braindev.2018.01.009DOI Listing
May 2018

Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant.

Parkinsonism Relat Disord 2018 05 9;50:124-125. Epub 2018 Feb 9.

Department of Neurology and Movement Disorder Center, Parkinson Study Group, Neuroscience Research Institute, College of Medicine, Seoul National University, 101 Daehakro, Jongno-gu, Seoul, 03080, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.02.012DOI Listing
May 2018

Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype".

Ann Neurol 2018 02;83(2):439

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1002/ana.25154DOI Listing
February 2018

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Exp Mol Med 2017 12 15;49(12):e414. Epub 2017 Dec 15.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1038/emm.2017.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750479PMC
December 2017

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Brain Dev 2017 Oct 28;39(9):799-803. Epub 2017 Jun 28.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.04.020DOI Listing
October 2017

Findings of a 1303 Korean whole-exome sequencing study.

Exp Mol Med 2017 07 14;49(7):e356. Epub 2017 Jul 14.

Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.1038/emm.2017.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565953PMC
July 2017

eIF2B-related multisystem disorder in two sisters with atypical presentations.

Eur J Paediatr Neurol 2017 Mar 18;21(2):404-409. Epub 2016 Jul 18.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.07.010DOI Listing
March 2017

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

J Child Neurol 2017 02 24;32(2):237-242. Epub 2016 Oct 24.

3 Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1177/0883073816674095DOI Listing
February 2017

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Ann Clin Lab Sci 2016 ;46(1):97-101

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.

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December 2016

Data of methylome and transcriptome derived from human dilated cardiomyopathy.

Data Brief 2016 Dec 14;9:382-387. Epub 2016 Sep 14.

Division of Biomedical Convergence, College of Biomedical Science, and Institute of Bioscience & Biotechnology, Kangwon National University, Chuncheon 24341, South Korea.

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http://dx.doi.org/10.1016/j.dib.2016.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035344PMC
December 2016

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Am J Med Genet A 2016 11 13;170(11):3023-3027. Epub 2016 Jul 13.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.37846DOI Listing
November 2016

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Am J Med Genet A 2016 08 27;170(8):2200-5. Epub 2016 May 27.

Department of Pediatrics, Seoul National University College of Medicine, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.37773DOI Listing
August 2016

Methylome analysis reveals alterations in DNA methylation in the regulatory regions of left ventricle development genes in human dilated cardiomyopathy.

Genomics 2016 08 12;108(2):84-92. Epub 2016 Jul 12.

Division of Biomedical Convergence, College of Biomedical Science, Institute of Bioscience & Biotechnology, Chuncheon 24341, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2016.07.001DOI Listing
August 2016

Epigenetic regulation of Kcna3-encoding Kv1.3 potassium channel by cereblon contributes to regulation of CD4+ T-cell activation.

Proc Natl Acad Sci U S A 2016 08 20;113(31):8771-6. Epub 2016 Jul 20.

School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 61005, Republic of Korea; Cell Logistics Research Center, Gwangju Institute of Science and Technology, Gwangju 61005, Republic of Korea

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http://dx.doi.org/10.1073/pnas.1502166113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978309PMC
August 2016

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

J Hum Genet 2016 Jun 21;61(6):561-4. Epub 2016 Jan 21.

Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/jhg.2015.174DOI Listing
June 2016

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Am J Hum Genet 2016 06 12;98(6):1082-1091. Epub 2016 May 12.

Cardiovascular Research Center, Department of Internal Medicine, Yale University School of Medicine and Howard Hughes Medical Institute, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908195PMC
June 2016

Ultra-rare Disease and Genomics-Driven Precision Medicine.

Genomics Inform 2016 Jun 30;14(2):42-5. Epub 2016 Jun 30.

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Korea.

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http://dx.doi.org/10.5808/GI.2016.14.2.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4951399PMC
June 2016

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.

J Allergy Clin Immunol 2016 Jan 21;137(1):327-330. Epub 2015 Oct 21.

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea; Department of Pediatrics, Seoul National University Hospital, Seoul, Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.08.036DOI Listing
January 2016

The dentin phosphoprotein repeat region and inherited defects of dentin.

Mol Genet Genomic Med 2016 Jan 7;4(1):28-38. Epub 2015 Sep 7.

Department of Biologic and Materials Sciences University of Michigan School of Dentistry 1210 Eisenhower Place Ann Arbor Michigan.

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http://dx.doi.org/10.1002/mgg3.176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707025PMC
January 2016

Fam83h null mice support a neomorphic mechanism for human ADHCAI.

Mol Genet Genomic Med 2016 Jan 21;4(1):46-67. Epub 2015 Sep 21.

Department of Biologic and Materials Sciences University of Michigan School of Dentistry 1210 Eisenhower Pl. Ann Arbor Michigan 48108.

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http://dx.doi.org/10.1002/mgg3.178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707031PMC
January 2016

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Oral Surg Oral Med Oral Pathol Oral Radiol 2015 Dec 28;120(6):e235-9. Epub 2015 May 28.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1016/j.oooo.2015.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640955PMC
December 2015

Proteomic Analysis Reveals Distinct Metabolic Differences Between Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) and Macrophage Colony Stimulating Factor (M-CSF) Grown Macrophages Derived from Murine Bone Marrow Cells.

Mol Cell Proteomics 2015 Oct 30;14(10):2722-32. Epub 2015 Jul 30.

From the ‡Department of Microbiology and Immunology, and Institute of Endemic Disease, Seoul National University College of Medicine, 103 Daehak-ro, Chongno-gu, Seoul 110-799, South Korea;

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http://dx.doi.org/10.1074/mcp.M115.048744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597147PMC
October 2015

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Gene 2015 Sep 30;569(2):318-22. Epub 2015 Apr 30.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.075DOI Listing
September 2015

Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers.

J Virol 2015 May 4;89(10):5502-14. Epub 2015 Mar 4.

Section of Infectious Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA Howard Hughes Medical Institute, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1128/JVI.00118-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442529PMC
May 2015

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

J Hum Genet 2015 Apr 22;60(4):213-5. Epub 2015 Jan 22.

Department of Rehabilitative Medicine, Pusan National University Hospital, Pusan National University School of Medicine, Pusan, Korea.

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http://dx.doi.org/10.1038/jhg.2015.2DOI Listing
April 2015

Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

J Clin Endocrinol Metab 2015 Mar 9;100(3):E493-502. Epub 2014 Dec 9.

Yale Endocrine Neoplasia Laboratory (C.C.J., J.M.H., A.L.F., J.W.K., T.C.B., R.K., T.C.), Yale School of Medicine, New Haven, Connecticut 06520; Department of Surgery (C.C.J., J.M.H., A.L.F., J.W.K., T.C.B., R.K., T.C.), Yale School of Medicine, New Haven, Connecticut, 06520; Department of Genetics (G.G., C.N.W., M.C., R.P.L.), Yale School of Medicine and Howard Hughes Medical Institute, New Haven, Connecticut, 06520; Department of Oncology-Pathology (C.C.J., A.S., A.H., C.L.), Karolinska Institutet, Karolinska University Hospital, CCK, SE-171 76 Stockholm, Sweden; Yale Center for Genome Analysis (JDO, SMM), Orange, Connecticut, 06477; Department of Pathology (D.L.R., M.L.P.), Yale School of Medicine, New Haven, Connecticut, 06520; Department of Pharmacology (J.S.), Yale School of Medicine, New Haven, Connecticut 06520; Department of Molecular Medicine and Surgery (M.B.), Karolinska Institutet, Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Division of Nephrology (U.I.S.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany; Department of Pathology (A.C.S.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany; and Division of Endocrinology and Diabetology (M.H.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-3282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393505PMC
March 2015

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

Proc Natl Acad Sci U S A 2015 Mar 18;112(13):4062-7. Epub 2015 Mar 18.

Departments of Genetics, Howard Hughes Medical Institute, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510; Internal Medicine,

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http://dx.doi.org/10.1073/pnas.1503696112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386328PMC
March 2015

New genetic loci link adipose and insulin biology to body fat distribution.

Authors:
Dmitry Shungin Thomas W Winkler Damien C Croteau-Chonka Teresa Ferreira Adam E Locke Reedik Mägi Rona J Strawbridge Tune H Pers Krista Fischer Anne E Justice Tsegaselassie Workalemahu Joseph M W Wu Martin L Buchkovich Nancy L Heard-Costa Tamara S Roman Alexander W Drong Ci Song Stefan Gustafsson Felix R Day Tonu Esko Tove Fall Zoltán Kutalik Jian'an Luan Joshua C Randall André Scherag Sailaja Vedantam Andrew R Wood Jin Chen Rudolf Fehrmann Juha Karjalainen Bratati Kahali Ching-Ti Liu Ellen M Schmidt Devin Absher Najaf Amin Denise Anderson Marian Beekman Jennifer L Bragg-Gresham Steven Buyske Ayse Demirkan Georg B Ehret Mary F Feitosa Anuj Goel Anne U Jackson Toby Johnson Marcus E Kleber Kati Kristiansson Massimo Mangino Irene Mateo Leach Carolina Medina-Gomez Cameron D Palmer Dorota Pasko Sonali Pechlivanis Marjolein J Peters Inga Prokopenko Alena Stančáková Yun Ju Sung Toshiko Tanaka Alexander Teumer Jana V Van Vliet-Ostaptchouk Loïc Yengo Weihua Zhang Eva Albrecht Johan Ärnlöv Gillian M Arscott Stefania Bandinelli Amy Barrett Claire Bellis Amanda J Bennett Christian Berne Matthias Blüher Stefan Böhringer Fabrice Bonnet Yvonne Böttcher Marcel Bruinenberg Delia B Carba Ida H Caspersen Robert Clarke E Warwick Daw Joris Deelen Ewa Deelman Graciela Delgado Alex Sf Doney Niina Eklund Michael R Erdos Karol Estrada Elodie Eury Nele Friedrich Melissa E Garcia Vilmantas Giedraitis Bruna Gigante Alan S Go Alain Golay Harald Grallert Tanja B Grammer Jürgen Gräßler Jagvir Grewal Christopher J Groves Toomas Haller Goran Hallmans Catharina A Hartman Maija Hassinen Caroline Hayward Kauko Heikkilä Karl-Heinz Herzig Quinta Helmer Hans L Hillege Oddgeir Holmen Steven C Hunt Aaron Isaacs Till Ittermann Alan L James Ingegerd Johansson Thorhildur Juliusdottir Ioanna-Panagiota Kalafati Leena Kinnunen Wolfgang Koenig Ishminder K Kooner Wolfgang Kratzer Claudia Lamina Karin Leander Nanette R Lee Peter Lichtner Lars Lind Jaana Lindström Stéphane Lobbens Mattias Lorentzon François Mach Patrik Ke Magnusson Anubha Mahajan Wendy L McArdle Cristina Menni Sigrun Merger Evelin Mihailov Lili Milani Rebecca Mills Alireza Moayyeri Keri L Monda Simon P Mooijaart Thomas W Mühleisen Antonella Mulas Gabriele Müller Martina Müller-Nurasyid Ramaiah Nagaraja Michael A Nalls Narisu Narisu Nicola Glorioso Ilja M Nolte Matthias Olden Nigel W Rayner Frida Renstrom Janina S Ried Neil R Robertson Lynda M Rose Serena Sanna Hubert Scharnagl Salome Scholtens Bengt Sennblad Thomas Seufferlein Colleen M Sitlani Albert Vernon Smith Kathleen Stirrups Heather M Stringham Johan Sundström Morris A Swertz Amy J Swift Ann-Christine Syvänen Bamidele O Tayo Barbara Thorand Gudmar Thorleifsson Andreas Tomaschitz Chiara Troffa Floor Va van Oort Niek Verweij Judith M Vonk Lindsay L Waite Roman Wennauer Tom Wilsgaard Mary K Wojczynski Andrew Wong Qunyuan Zhang Jing Hua Zhao Eoin P Brennan Murim Choi Per Eriksson Lasse Folkersen Anders Franco-Cereceda Ali G Gharavi Åsa K Hedman Marie-France Hivert Jinyan Huang Stavroula Kanoni Fredrik Karpe Sarah Keildson Krzysztof Kiryluk Liming Liang Richard P Lifton Baoshan Ma Amy J McKnight Ruth McPherson Andres Metspalu Josine L Min Miriam F Moffatt Grant W Montgomery Joanne M Murabito George Nicholson Dale R Nyholt Christian Olsson John Rb Perry Eva Reinmaa Rany M Salem Niina Sandholm Eric E Schadt Robert A Scott Lisette Stolk Edgar E Vallejo Harm-Jan Westra Krina T Zondervan Philippe Amouyel Dominique Arveiler Stephan Jl Bakker John Beilby Richard N Bergman John Blangero Morris J Brown Michel Burnier Harry Campbell Aravinda Chakravarti Peter S Chines Simone Claudi-Boehm Francis S Collins Dana C Crawford John Danesh Ulf de Faire Eco Jc de Geus Marcus Dörr Raimund Erbel Johan G Eriksson Martin Farrall Ele Ferrannini Jean Ferrières Nita G Forouhi Terrence Forrester Oscar H Franco Ron T Gansevoort Christian Gieger Vilmundur Gudnason Christopher A Haiman Tamara B Harris Andrew T Hattersley Markku Heliövaara Andrew A Hicks Aroon D Hingorani Wolfgang Hoffmann Albert Hofman Georg Homuth Steve E Humphries Elina Hyppönen Thomas Illig Marjo-Riitta Jarvelin Berit Johansen Pekka Jousilahti Antti M Jula Jaakko Kaprio Frank Kee Sirkka M Keinanen-Kiukaanniemi Jaspal S Kooner Charles Kooperberg Peter Kovacs Aldi T Kraja Meena Kumari Kari Kuulasmaa Johanna Kuusisto Timo A Lakka Claudia Langenberg Loic Le Marchand Terho Lehtimäki Valeriya Lyssenko Satu Männistö André Marette Tara C Matise Colin A McKenzie Barbara McKnight Arthur W Musk Stefan Möhlenkamp Andrew D Morris Mari Nelis Claes Ohlsson Albertine J Oldehinkel Ken K Ong Lyle J Palmer Brenda W Penninx Annette Peters Peter P Pramstaller Olli T Raitakari Tuomo Rankinen D C Rao Treva K Rice Paul M Ridker Marylyn D Ritchie Igor Rudan Veikko Salomaa Nilesh J Samani Jouko Saramies Mark A Sarzynski Peter Eh Schwarz Alan R Shuldiner Jan A Staessen Valgerdur Steinthorsdottir Ronald P Stolk Konstantin Strauch Anke Tönjes Angelo Tremblay Elena Tremoli Marie-Claude Vohl Uwe Völker Peter Vollenweider James F Wilson Jacqueline C Witteman Linda S Adair Murielle Bochud Bernhard O Boehm Stefan R Bornstein Claude Bouchard Stéphane Cauchi Mark J Caulfield John C Chambers Daniel I Chasman Richard S Cooper George Dedoussis Luigi Ferrucci Philippe Froguel Hans-Jörgen Grabe Anders Hamsten Jennie Hui Kristian Hveem Karl-Heinz Jöckel Mika Kivimaki Diana Kuh Markku Laakso Yongmei Liu Winfried März Patricia B Munroe Inger Njølstad Ben A Oostra Colin Na Palmer Nancy L Pedersen Markus Perola Louis Pérusse Ulrike Peters Chris Power Thomas Quertermous Rainer Rauramaa Fernando Rivadeneira Timo E Saaristo Danish Saleheen Juha Sinisalo P Eline Slagboom Harold Snieder Tim D Spector Kari Stefansson Michael Stumvoll Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Giovanni Veronesi Mark Walker Nicholas J Wareham Hugh Watkins H-Erich Wichmann Goncalo R Abecasis Themistocles L Assimes Sonja I Berndt Michael Boehnke Ingrid B Borecki Panos Deloukas Lude Franke Timothy M Frayling Leif C Groop David J Hunter Robert C Kaplan Jeffrey R O'Connell Lu Qi David Schlessinger David P Strachan Unnur Thorsteinsdottir Cornelia M van Duijn Cristen J Willer Peter M Visscher Jian Yang Joel N Hirschhorn M Carola Zillikens Mark I McCarthy Elizabeth K Speliotes Kari E North Caroline S Fox Inês Barroso Paul W Franks Erik Ingelsson Iris M Heid Ruth Jf Loos L Adrienne Cupples Andrew P Morris Cecilia M Lindgren Karen L Mohlke

Nature 2015 Feb;518(7538):187-196

Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.

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http://kooperberg.fhcrc.org/papers/2015shungin.pdf
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http://www.nature.com/doifinder/10.1038/nature14132
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http://dx.doi.org/10.1038/nature14132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338562PMC
February 2015

Genetic studies of body mass index yield new insights for obesity biology.

Authors:
Adam E Locke Bratati Kahali Sonja I Berndt Anne E Justice Tune H Pers Felix R Day Corey Powell Sailaja Vedantam Martin L Buchkovich Jian Yang Damien C Croteau-Chonka Tonu Esko Tove Fall Teresa Ferreira Stefan Gustafsson Zoltán Kutalik Jian'an Luan Reedik Mägi Joshua C Randall Thomas W Winkler Andrew R Wood Tsegaselassie Workalemahu Jessica D Faul Jennifer A Smith Jing Hua Zhao Wei Zhao Jin Chen Rudolf Fehrmann Åsa K Hedman Juha Karjalainen Ellen M Schmidt Devin Absher Najaf Amin Denise Anderson Marian Beekman Jennifer L Bolton Jennifer L Bragg-Gresham Steven Buyske Ayse Demirkan Guohong Deng Georg B Ehret Bjarke Feenstra Mary F Feitosa Krista Fischer Anuj Goel Jian Gong Anne U Jackson Stavroula Kanoni Marcus E Kleber Kati Kristiansson Unhee Lim Vaneet Lotay Massimo Mangino Irene Mateo Leach Carolina Medina-Gomez Sarah E Medland Michael A Nalls Cameron D Palmer Dorota Pasko Sonali Pechlivanis Marjolein J Peters Inga Prokopenko Dmitry Shungin Alena Stančáková Rona J Strawbridge Yun Ju Sung Toshiko Tanaka Alexander Teumer Stella Trompet Sander W van der Laan Jessica van Setten Jana V Van Vliet-Ostaptchouk Zhaoming Wang Loïc Yengo Weihua Zhang Aaron Isaacs Eva Albrecht Johan Ärnlöv Gillian M Arscott Antony P Attwood Stefania Bandinelli Amy Barrett Isabelita N Bas Claire Bellis Amanda J Bennett Christian Berne Roza Blagieva Matthias Blüher Stefan Böhringer Lori L Bonnycastle Yvonne Böttcher Heather A Boyd Marcel Bruinenberg Ida H Caspersen Yii-Der Ida Chen Robert Clarke E Warwick Daw Anton J M de Craen Graciela Delgado Maria Dimitriou Alex S F Doney Niina Eklund Karol Estrada Elodie Eury Lasse Folkersen Ross M Fraser Melissa E Garcia Frank Geller Vilmantas Giedraitis Bruna Gigante Alan S Go Alain Golay Alison H Goodall Scott D Gordon Mathias Gorski Hans-Jörgen Grabe Harald Grallert Tanja B Grammer Jürgen Gräßler Henrik Grönberg Christopher J Groves Gaëlle Gusto Jeffrey Haessler Per Hall Toomas Haller Goran Hallmans Catharina A Hartman Maija Hassinen Caroline Hayward 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Steinthorsdottir Kathleen Stirrups Heather M Stringham Johan Sundström Morris A Swertz Amy J Swift Ann-Christine Syvänen Sian-Tsung Tan Bamidele O Tayo Barbara Thorand Gudmar Thorleifsson Jonathan P Tyrer Hae-Won Uh Liesbeth Vandenput Frank C Verhulst Sita H Vermeulen Niek Verweij Judith M Vonk Lindsay L Waite Helen R Warren Dawn Waterworth Michael N Weedon Lynne R Wilkens Christina Willenborg Tom Wilsgaard Mary K Wojczynski Andrew Wong Alan F Wright Qunyuan Zhang Eoin P Brennan Murim Choi Zari Dastani Alexander W Drong Per Eriksson Anders Franco-Cereceda Jesper R Gådin Ali G Gharavi Michael E Goddard Robert E Handsaker Jinyan Huang Fredrik Karpe Sekar Kathiresan Sarah Keildson Krzysztof Kiryluk Michiaki Kubo Jong-Young Lee Liming Liang Richard P Lifton Baoshan Ma Steven A McCarroll Amy J McKnight Josine L Min Miriam F Moffatt Grant W Montgomery Joanne M Murabito George Nicholson Dale R Nyholt Yukinori Okada John R B Perry Rajkumar Dorajoo Eva Reinmaa Rany M Salem Niina Sandholm Robert A Scott Lisette Stolk Atsushi Takahashi Toshihiro Tanaka Ferdinand M van 't Hooft Anna A E Vinkhuyzen Harm-Jan Westra Wei Zheng Krina T Zondervan Andrew C Heath Dominique Arveiler Stephan J L Bakker John Beilby Richard N Bergman John Blangero Pascal Bovet Harry Campbell Mark J Caulfield Giancarlo Cesana Aravinda Chakravarti Daniel I Chasman Peter S Chines Francis S Collins Dana C Crawford L Adrienne Cupples Daniele Cusi John Danesh Ulf de Faire Hester M den Ruijter Anna F Dominiczak Raimund Erbel Jeanette Erdmann Johan G Eriksson Martin Farrall Stephan B Felix Ele Ferrannini Jean Ferrières Ian Ford Nita G Forouhi Terrence Forrester Oscar H Franco Ron T Gansevoort Pablo V Gejman Christian Gieger Omri Gottesman Vilmundur Gudnason Ulf Gyllensten Alistair S Hall Tamara B Harris Andrew T Hattersley Andrew A Hicks Lucia A Hindorff Aroon D Hingorani Albert Hofman Georg Homuth G Kees Hovingh Steve E Humphries Steven C Hunt Elina Hyppönen Thomas Illig Kevin B Jacobs Marjo-Riitta Jarvelin Karl-Heinz Jöckel Berit Johansen Pekka Jousilahti J Wouter Jukema Antti M Jula Jaakko Kaprio John J P Kastelein Sirkka M Keinanen-Kiukaanniemi Lambertus A Kiemeney Paul Knekt Jaspal S Kooner Charles Kooperberg Peter Kovacs Aldi T Kraja Meena Kumari Johanna Kuusisto Timo A Lakka Claudia Langenberg Loic Le Marchand Terho Lehtimäki Valeriya Lyssenko Satu Männistö André Marette Tara C Matise Colin A McKenzie Barbara McKnight Frans L Moll Andrew D Morris Andrew P Morris Jeffrey C Murray Mari Nelis Claes Ohlsson Albertine J Oldehinkel Ken K Ong Pamela A F Madden Gerard Pasterkamp John F Peden Annette Peters Dirkje S Postma Peter P Pramstaller Jackie F Price Lu Qi Olli T Raitakari Tuomo Rankinen D C Rao Treva K Rice Paul M Ridker John D Rioux Marylyn D Ritchie Igor Rudan Veikko Salomaa Nilesh J Samani Jouko Saramies Mark A Sarzynski Heribert Schunkert Peter E H Schwarz Peter Sever Alan R Shuldiner Juha Sinisalo Ronald P Stolk Konstantin Strauch Anke Tönjes David-Alexandre Trégouët Angelo Tremblay Elena Tremoli Jarmo Virtamo Marie-Claude Vohl Uwe Völker Gérard Waeber Gonneke Willemsen Jacqueline C Witteman M Carola Zillikens Linda S Adair Philippe Amouyel Folkert W Asselbergs Themistocles L Assimes Murielle Bochud Bernhard O Boehm Eric Boerwinkle Stefan R Bornstein Erwin P Bottinger Claude Bouchard Stéphane Cauchi John C Chambers Stephen J Chanock Richard S Cooper Paul I W de Bakker George Dedoussis Luigi Ferrucci Paul W Franks Philippe Froguel Leif C Groop Christopher A Haiman Anders Hamsten Jennie Hui David J Hunter Kristian Hveem Robert C Kaplan Mika Kivimaki Diana Kuh Markku Laakso Yongmei Liu Nicholas G Martin Winfried März Mads Melbye Andres Metspalu Susanne Moebus Patricia B Munroe Inger Njølstad Ben A Oostra Colin N A Palmer Nancy L Pedersen Markus Perola Louis Pérusse Ulrike Peters Chris Power Thomas Quertermous Rainer Rauramaa Fernando Rivadeneira Timo E Saaristo Danish Saleheen Naveed Sattar Eric E Schadt David Schlessinger P Eline Slagboom Harold Snieder Tim D Spector Unnur Thorsteinsdottir Michael Stumvoll Jaakko Tuomilehto André G Uitterlinden Matti Uusitupa Pim van der Harst Mark Walker Henri Wallaschofski Nicholas J Wareham Hugh Watkins David R Weir H-Erich Wichmann James F Wilson Pieter Zanen Ingrid B Borecki Panos Deloukas Caroline S Fox Iris M Heid Jeffrey R O'Connell David P Strachan Kari Stefansson Cornelia M van Duijn Gonçalo R Abecasis Lude Franke Timothy M Frayling Mark I McCarthy Peter M Visscher André Scherag Cristen J Willer Michael Boehnke Karen L Mohlke Cecilia M Lindgren Jacques S Beckmann Inês Barroso Kari E North Erik Ingelsson Joel N Hirschhorn Ruth J F Loos Elizabeth K Speliotes

Nature 2015 Feb;518(7538):197-206

Department of Internal Medicine, Division of Gastroenterology, and Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382211PMC
February 2015

Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.

Mol Genet Genomic Med 2015 Jan 15;3(1):40-58. Epub 2014 Sep 15.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry 1210 Eisenhower Place, Ann Arbor, Michigan, 48108.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299714PMC
January 2015

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

J Hepatol 2014 Nov 10;61(5):1056-63. Epub 2014 Jul 10.

Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, United States; Digestive Diseases Section, Yale University School of Medicine, New Haven, CT, United States; Department of Pediatrics, Gastroenterology-Hepatology Section, Yale University School of Medicine, New Haven, CT, United States. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203706PMC
November 2014

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nat Genet 2014 Nov 12;46(11):1187-96. Epub 2014 Oct 12.

Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213311PMC
November 2014

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Nat Genet 2014 Jun 20;46(6):613-7. Epub 2014 Apr 20.

1] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. [2] Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA. [3] Yale Center for Mendelian Genomics, New Haven, Connecticut, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074779PMC
June 2014

A form of the metabolic syndrome associated with mutations in DYRK1B.

N Engl J Med 2014 May;370(20):1909-1919

Department of Internal Medicine, Yale Cardiovascular Research Center (A.R.K., M.F., G.-W.G., R.S., S.F., J.H., A.M.), Yale Center for Mendelian Genomics (M.C., S.M., R.P.L., A.M.), Department of Genetics (K.K.K., R.P.L., A.M.), and Howard Hughes Medical Institute (R.P.L.), Yale University School of Medicine, New Haven, CT; the Digestive Disease Research Institute, Shariati Hospital (M.F., K.S.-F., R.M.), and Department of Medical Genetics (M.F.), Tehran University of Medical Sciences, Tehran, the Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz (M.K., K.S.-F., M.A.B.B.), and Ardabil University of Medical Sciences, Ardabil (A.H., M.B.) - all in Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069260PMC
May 2014

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Hum Mol Genet 2014 Apr 4;23(8):2157-63. Epub 2013 Dec 4.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA.

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http://dx.doi.org/10.1093/hmg/ddt611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959820PMC
April 2014

Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates.

Pediatr Res 2014 Jan 5;75(1-2):241-50. Epub 2013 Nov 5.

Department of Pediatrics, University of Miami Leonard M. Miller School of Medicine, Miami, Florida.

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http://dx.doi.org/10.1038/pr.2013.195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946468PMC
January 2014

Mutations in DSTYK and dominant urinary tract malformations.

N Engl J Med 2013 Aug 17;369(7):621-9. Epub 2013 Jul 17.

Divisions of Nephrology (S.S.-C., R.V.S., N.P., K.E.B., S.N.N., B.J.P., P.L.W., M.V., F.L., R.S., N.P., N.K., K.K., Q.A.-A., A.G.G.) and Pediatric Nephrology (P.L.W.) and the Department of Pathology (V.D.D.), Columbia University, and the Department of Medicine, St. Luke's-Roosevelt Hospital Center (S.S.-C.), New York; the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (M.C., M.S., R.P.L.); the Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea (M.C.); the Division of Nephrology, Dialysis, and Transplantation (M.B., F.L., G.C., A.C., M.D., C.M., G.P., G.M.G.) and Laboratory of Molecular Genetics (G.S., R.R.), Istituto Giannina Gaslini, the Division of Nephrology, Department of Internal Medicine (M.B.), and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (R.R.), University of Genoa, and IRCCS San Martino-IST (M.B.), Genoa; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia (C.I., F.S.); the Department of Clinical Medicine, Nephrology, and Health Sciences, Unit of Nephrology, University of Parma, Parma (B.B., S.G., L.A.); the Department of Medical and Surgical Sciences, University of Foggia, Foggia (M.G.); the Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.); and the Division of Nephrology and Dialysis, Hospital of Alghero, Alghero (D.C.) - all in Italy; the Nephrology Division, Massachusetts General Hospital (Y.L., I.A.D.), and Department of Genetics, Harvard Medical School (I.A.D.), Charlestown, MA; University Children's Hospital, Medical School of Skopje, Skopje, Macedonia (V.J.L., N.R.-B., Z.G., V.T.); the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland (A.M.-K., A.L.-B.); and the Department of Pediatrics, University Hospital of Split (D.K.V., M.S.), and the Department of Anatomy, Histology, and Embryology (K.V., M.S.-B.), School of Medicine (M.S.), University of Split, Split, Croatia.

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August 2013

Application of whole exome sequencing to identify disease-causing variants in inherited human diseases.

Genomics Inform 2012 Dec 31;10(4):214-9. Epub 2012 Dec 31.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543920PMC
December 2012

Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors.

Genes Chromosomes Cancer 2012 Oct 26;51(10):949-60. Epub 2012 Jun 26.

Department of Surgery, Yale University School of Medicine, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1002/gcc.21978DOI Listing
October 2012

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.

J Clin Endocrinol Metab 2012 Sep 27;97(9):E1774-81. Epub 2012 Jun 27.

Department of Genetics, Yale Cancer Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1210/jc.2012-1743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393442PMC
September 2012

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

On optimal pooling designs to identify rare variants through massive resequencing.

Genet Epidemiol 2011 Apr 19;35(3):139-47. Epub 2011 Jan 19.

Department of Epidemiology and Public Health, Yale University, New Haven, Connecticut, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176340PMC
April 2011

Expression patterns of astrocyte elevated gene-1 (AEG-1) during development of the mouse embryo.

Gene Expr Patterns 2010 Oct-Dec;10(7-8):361-7. Epub 2010 Aug 22.

Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3165053PMC
March 2011

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Proc Natl Acad Sci U S A 2011 Feb 31;108(7):2915-20. Epub 2011 Jan 31.

Department of Genetics, The Howard Hughes Medical Institute,Yale University School of Medicine, New Haven, CT 06520, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1019645108
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041108PMC
February 2011

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Proc Natl Acad Sci U S A 2009 Nov 27;106(45):19096-101. Epub 2009 Oct 27.

Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.0910672106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768590PMC
November 2009

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

Proc Natl Acad Sci U S A 2009 Apr 16;106(14):5842-7. Epub 2009 Mar 16.

Department of Genetics, The Howard Hughes Medical Institute, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656559PMC
April 2009

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.

PLoS Genet 2009 Feb 27;5(2):e1000395. Epub 2009 Feb 27.

Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640462PMC
February 2009