Vaidutis Kucinskas

Vaidutis Kucinskas

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Vaidutis Kucinskas

Publications by authors named "Vaidutis Kucinskas"

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Novel Androgen Receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome.

J Pediatr Adolesc Gynecol 2019 Aug 8. Epub 2019 Aug 8.

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Centre for Medical Genetics, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.

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http://dx.doi.org/10.1016/j.jpag.2019.08.001DOI Listing
August 2019

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.

Mol Genet Genomic Med 2019 Jul 20:e878. Epub 2019 Jul 20.

Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1002/mgg3.878DOI Listing
July 2019

Duplication in the Gene Associated With Severe CHARGE Syndrome.

Genomics Insights 2019 2;12:1178631019839010. Epub 2019 Apr 2.

Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1177/1178631019839010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446253PMC
April 2019

Insights Into Mutation Variation in Lithuanian Exome.

Front Genet 2018 14;9:315. Epub 2018 Aug 14.

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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https://www.frontiersin.org/article/10.3389/fgene.2018.00315
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http://dx.doi.org/10.3389/fgene.2018.00315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102505PMC
August 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

Acta Med Litu 2018 ;25(1):7-13

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.6001/actamedica.v25i1.3698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008003PMC
January 2018

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.

Ophthalmic Genet 2017 Jul-Aug;38(4):383-386. Epub 2016 Nov 23.

a Department of Human and Medical Genetics, Faculty of Medicine , Vilnius University , Vilnius , Lithuania.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2016.1
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http://dx.doi.org/10.1080/13816810.2016.1227452DOI Listing
December 2017

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

Cytogenet Genome Res 2017 23;151(1):5-9. Epub 2017 Feb 23.

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1159/000456695DOI Listing
September 2017

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Medicine (Baltimore) 2017 Apr;96(16):e6521

aDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University bFaculty of Medicine, Vilnius University cCentre for Medical Genetics, Vilnius University Hospital Santariskiu Klinikos dHematology, Oncology and Transfusion Medicine Centre; Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania.

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http://dx.doi.org/10.1097/MD.0000000000006521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406054PMC
April 2017

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Eur J Med Genet 2017 Mar 9;60(3):154-158. Epub 2017 Jan 9.

Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1016/j.ejmg.2016.12.004DOI Listing
March 2017

The most common technologies and tools for functional genome analysis.

Acta Med Litu 2017 ;24(1):1-11

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University Vilnius, Lithuania.

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http://dx.doi.org/10.6001/actamedica.v24i1.3457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467957PMC
January 2017

Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.

Taiwan J Obstet Gynecol 2016 Jun;55(3):410-4

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1016/j.tjog.2016.04.018DOI Listing
June 2016

Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

Stomatologija 2014 ;16(3):94-101

Scientific Laboratory of Molecular Genetics, Rīga Stradiņš University, Dzirciema street 16, LV-1007, Riga, Latvia.

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March 2016

SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.

Am J Med Genet A 2016 Mar 24;170(3):781-4. Epub 2015 Nov 24.

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1002/ajmg.a.37466DOI Listing
March 2016

Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.

Clin Dysmorphol 2016 Jan;25(1):7-11

aDepartment of Human and Medical Genetics bCentre of Neonatology, Clinics of Children's Diseases, Faculty of Medicine, Vilnius University cNational Centre of Pathology dCentre of Neonatology, Children's Hospital, Affiliate of Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania.

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http://dx.doi.org/10.1097/MCD.0000000000000100DOI Listing
January 2016

Challenges in exome analysis by LifeScope and its alternative computational pipelines.

BMC Res Notes 2015 Sep 7;8:421. Epub 2015 Sep 7.

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskiu str. 2, LT-08661, Vilnius, Lithuania.

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http://www.biomedcentral.com/1756-0500/8/421
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http://dx.doi.org/10.1186/s13104-015-1385-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562342PMC
September 2015

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Am J Med Genet A 2015 Jun 21;167(6):1342-8. Epub 2015 Apr 21.

Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36999DOI Listing
June 2015

Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Mol Cytogenet 2015 21;8:29. Epub 2015 Apr 21.

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania ; Centre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.

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http://dx.doi.org/10.1186/s13039-015-0124-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411697PMC
April 2015

Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.

Cytogenet Genome Res 2014 15;144(2):109-13. Epub 2014 Nov 15.

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1159/000368863DOI Listing
February 2015

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

Clin Dysmorphol 2015 Jan;24(1):7-12

Departments of aHuman and Medical Genetics bRadiology, Nuclear Medicine and Physics of Medicine cClinic of ENT and Eye Diseases, Faculty of Medicine, Vilnius University dCentre for Medical Genetics, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.

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http://dx.doi.org/10.1097/MCD.0000000000000059DOI Listing
January 2015

Variation in the ACE, PPARGC1A and PPARA genes in Lithuanian football players.

Eur J Sport Sci 2014 31;14 Suppl 1:S289-95. Epub 2012 May 31.

a Department of Human and Medical Genetics, Faculty of Medicine , Vilnius University , Vilnius , Lithuania.

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http://www.tandfonline.com/doi/abs/10.1080/17461391.2012.691
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http://dx.doi.org/10.1080/17461391.2012.691117DOI Listing
September 2014

Ancient human genomes suggest three ancestral populations for present-day Europeans.

Authors:
Iosif Lazaridis Nick Patterson Alissa Mittnik Gabriel Renaud Swapan Mallick Karola Kirsanow Peter H Sudmant Joshua G Schraiber Sergi Castellano Mark Lipson Bonnie Berger Christos Economou Ruth Bollongino Qiaomei Fu Kirsten I Bos Susanne Nordenfelt Heng Li Cesare de Filippo Kay Prüfer Susanna Sawyer Cosimo Posth Wolfgang Haak Fredrik Hallgren Elin Fornander Nadin Rohland Dominique Delsate Michael Francken Jean-Michel Guinet Joachim Wahl George Ayodo Hamza A Babiker Graciela Bailliet Elena Balanovska Oleg Balanovsky Ramiro Barrantes Gabriel Bedoya Haim Ben-Ami Judit Bene Fouad Berrada Claudio M Bravi Francesca Brisighelli George B J Busby Francesco Cali Mikhail Churnosov David E C Cole Daniel Corach Larissa Damba George van Driem Stanislav Dryomov Jean-Michel Dugoujon Sardana A Fedorova Irene Gallego Romero Marina Gubina Michael Hammer Brenna M Henn Tor Hervig Ugur Hodoglugil Aashish R Jha Sena Karachanak-Yankova Rita Khusainova Elza Khusnutdinova Rick Kittles Toomas Kivisild William Klitz Vaidutis Kučinskas Alena Kushniarevich Leila Laredj Sergey Litvinov Theologos Loukidis Robert W Mahley Béla Melegh Ene Metspalu Julio Molina Joanna Mountain Klemetti Näkkäläjärvi Desislava Nesheva Thomas Nyambo Ludmila Osipova Jüri Parik Fedor Platonov Olga Posukh Valentino Romano Francisco Rothhammer Igor Rudan Ruslan Ruizbakiev Hovhannes Sahakyan Antti Sajantila Antonio Salas Elena B Starikovskaya Ayele Tarekegn Draga Toncheva Shahlo Turdikulova Ingrida Uktveryte Olga Utevska René Vasquez Mercedes Villena Mikhail Voevoda Cheryl A Winkler Levon Yepiskoposyan Pierre Zalloua Tatijana Zemunik Alan Cooper Cristian Capelli Mark G Thomas Andres Ruiz-Linares Sarah A Tishkoff Lalji Singh Kumarasamy Thangaraj Richard Villems David Comas Rem Sukernik Mait Metspalu Matthias Meyer Evan E Eichler Joachim Burger Montgomery Slatkin Svante Pääbo Janet Kelso David Reich Johannes Krause

Nature 2014 Sep;513(7518):409-13

1] Institute for Archaeological Sciences, University of Tübingen, Tübingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tübingen, 72070 Tübingen, Germany. [3] Max Planck Institut für Geschichte und Naturwissenschaften, Jena 07745, Germany.

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https://genetics.med.harvard.edu/reich/Reich_Lab/Welcome_fil
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http://biorxiv.org/content/biorxiv/early/2013/12/23/001552.f
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http://www.geo.uni-tuebingen.de/fileadmin/website/arbeitsber
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http://www.nature.com/doifinder/10.1038/nature13673
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http://dx.doi.org/10.1038/nature13673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574PMC
September 2014

Heterogeneity of oral clefts in relation to associated congenital anomalies.

Medicina (Kaunas) 2013 ;49(2):61-6

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių 2, 08661 Vilnius, Lithuania.

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May 2014

Considering specific clinical features as evidence of pathogenic copy number variants.

J Appl Genet 2014 May 18;55(2):189-96. Epub 2014 Feb 18.

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, 08661, Vilnius, Lithuania,

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http://dx.doi.org/10.1007/s13353-014-0197-xDOI Listing
May 2014

Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.

J Child Neurol 2014 Mar 22;29(3):399-405. Epub 2013 Jan 22.

1Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1177/0883073812471429DOI Listing
March 2014

A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.

Am J Med Genet A 2013 Jun 30;161A(6):1487-90. Epub 2013 Apr 30.

Faculty of Medicine, Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1002/ajmg.a.35911DOI Listing
June 2013

Clinical and molecular characterization of a second case of 7p22.1 microduplication.

Am J Med Genet A 2012 May 11;158A(5):1200-3. Epub 2012 Apr 11.

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1002/ajmg.a.35300DOI Listing
May 2012

A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?

Eur J Med Genet 2012 Apr 6;55(4):274-7. Epub 2012 Mar 6.

Department of Human and Medical Genetics, Vilnius University, LT-08661 Vilnius, Lithuania.

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http://dx.doi.org/10.1016/j.ejmg.2012.02.010DOI Listing
April 2012

Genetic variation of the human ACE and ACTN3 genes and their association with functional muscle properties in Lithuanian elite athletes.

Medicina (Kaunas) 2011 ;47(5):284-90

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių 2, Vilnius, Lithuania.

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February 2012

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.

Am J Med Genet A 2011 Oct;155A(10):2501-7

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Lithuania.

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October 2011

Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania.

Breast Cancer Res Treat 2009 Sep 2;117(2):467-9. Epub 2008 Sep 2.

Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Santariskiu 2, Vilnius LT-08661, Lithuania.

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http://dx.doi.org/10.1007/s10549-008-0166-3DOI Listing
September 2009

Recombinant chromosome 14 due to maternal pericentric inversion.

J Appl Genet 2008 ;49(2):205-7

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1007/BF03195614DOI Listing
August 2008

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.

J Appl Genet 2007 ;48(3):277-80

Department of Human and Medical Genetics, Vilnius University, Vilnius, Santariskiu 2, Lithuania.

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http://dx.doi.org/10.1007/BF03195224DOI Listing
October 2007

Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania.

J Appl Genet 2007 ;48(1):89-91

Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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March 2007

Psychological adjustment of children with congenital hypothyroidism and phenylketonuria as related to parental psychological adjustment.

Medicina (Kaunas) 2004 ;40(7):663-70

Department of Psychology, Faculty of Social Sciences, Law University of Lithuania, Lithuania.

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February 2006

Mutation history of the roma/gypsies.

Am J Hum Genet 2004 Oct 20;75(4):596-609. Epub 2004 Aug 20.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1086/424759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182047PMC
October 2004

Familial variables as predictors of psychological maladjustment in Lithuanian children with phenylketonuria.

Med Sci Monit 2004 Mar 1;10(3):CR102-7. Epub 2004 Mar 1.

Department of Psychology, Law University of Lithuania, Vilnius, Lithuania.

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March 2004

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.

J Appl Genet 2003 ;44(1):95-102

Department of Human and Medical Genetics, Vilnius University, Faculty of Medicine, Santariskiu street 2, LT-2-21 Vilnius, Lithuania.

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September 2003

Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.

Med Sci Monit 2003 Mar;9(3):CR142-6

Department of Human and Medical Genetics, Vilnius University, Vilnius, Lithuania.

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March 2003

Variability of the human mitochondrial DNA control region sequences in the Lithuanian population.

J Appl Genet 2002 ;43(2):255-60

Human Genetics Centre, Vilnius University, Lithuania.

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October 2002