Livija Medne

Livija Medne

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Livija Medne

Livija Medne

Publications by authors named "Livija Medne"

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63Publications

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EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

Pediatr Dermatol 2017 Sep 21;34(5):e227-e230. Epub 2017 Jul 21.

Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/pde.13208DOI Listing
September 2017

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Orphanet J Rare Dis 2016 Sep 29;11(1):130. Epub 2016 Sep 29.

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041579PMC
http://dx.doi.org/10.1186/s13023-016-0509-9DOI Listing
September 2016

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

Am J Med Genet A 2014 Nov 12;164A(11):2879-86. Epub 2014 Aug 12.

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205200PMC
November 2014

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

J Neuropathol Exp Neurol 2014 May;73(5):425-41

From the National Institute of Nursing Research, Bethesda, Maryland (KGM); National Institute of Neurological Disorders and Stroke, Bethesda, Maryland (KZ, JD, YH, SD, CGB); Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (LM, LBR-A); Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama (PF); Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware (NP-H, MS); Prevention Genetics, Marshfield, Wisconsin (TLW); Pediatric Neurology Department, National Neuroscience Institute (AA), and Division of Medical Genetics, Department of Pediatrics, The Children's Hospital (AWE), King Fahad Medical City; and College of Medicine, King Saud bin Abdulaziz University for Health Sciences (AA,AWE), Riyadh, Kingdom of Saudi Arabia; Department of Pathology, Brigham and Women's Hospital (JAG); and Harvard Medical School (JAG), Boston, Massachusetts; Department of Pathology, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania (RE); Nemours Children's Hospital, Orlando, Florida (RF); and Medical Examiner's Office, Mount Holly, New Jersey (ICH).

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http://dx.doi.org/10.1097/NEN.0000000000000065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113964PMC
May 2014

Confirming an expanded spectrum of SCN2A mutations: a case series.

Epileptic Disord 2014 Mar;16(1):13-8

Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1684/epd.2014.0641DOI Listing
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.

Am J Med Genet A 2013 Dec 16;161A(12):3137-43. Epub 2013 Aug 16.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36149DOI Listing
December 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet J Rare Dis 2013 Aug 6;8:117. Epub 2013 Aug 6.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1186/1750-1172-8-117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751094PMC
August 2013

CDKL5 and ARX mutations in males with early-onset epilepsy.

Pediatr Neurol 2013 May;48(5):367-77

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742321PMC
May 2013

Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.

Muscle Nerve 2011 Nov;44(5):822-5

Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/mus.22226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404890PMC
November 2011

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.

Am J Med Genet A 2010 Nov;152A(11):2703-10

Center for Human Nutrition, Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1002/ajmg.a.33664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965306PMC
November 2010

Paternal origin of the de novo constitutional t(11;22)(q23;q11).

Eur J Hum Genet 2010 Jul 24;18(7):783-7. Epub 2010 Feb 24.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.

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http://dx.doi.org/10.1038/ejhg.2010.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987363PMC
July 2010

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Hum Mol Genet 2010 Apr 6;19(7):1263-75. Epub 2010 Jan 6.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/hmg/ddq003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146011PMC
April 2010

Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.

Am J Med Genet A 2009 Aug;149A(8):1740-8

Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.32716DOI Listing
August 2009

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.

Ann Neurol 2008 Jan;63(1):81-9

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1002/ana.21290DOI Listing
January 2008

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Am J Hum Genet 2007 Aug 13;81(2):292-303. Epub 2007 Jun 13.

Academic Unit of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, and Centre for Molecular Medicine, The University of Manchester, M13 0JH, UK.

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http://dx.doi.org/10.1086/519999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950798PMC
August 2007

A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.

Am J Med Genet A 2007 Jun;143A(12):1282-6

Division of Genetics, Department of Pediatrics, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31780
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http://dx.doi.org/10.1002/ajmg.a.31780DOI Listing
June 2007

A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

Genome Res 2007 Apr 9;17(4):470-81. Epub 2007 Mar 9.

The Division of Human Genetics, The Children's Hospital of Philadelphia and the Joseph Stokes Jr Research Institute, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1101/gr.6130907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1832094PMC
April 2007

MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.

Neuromuscul Disord 2007 Jan 28;17(1):28-32. Epub 2006 Nov 28.

Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966060054
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http://dx.doi.org/10.1016/j.nmd.2006.09.013DOI Listing
January 2007

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.

Am J Med Genet A 2005 Oct;138A(2):155-9

Department of Pediatrics, Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30913
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http://dx.doi.org/10.1002/ajmg.a.30913DOI Listing
October 2005

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

Am J Med Genet A 2005 Aug;137(2):208-12

Division of Human Genetics and Molecular Biology, 1007A Abramson Research Center, Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30845
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http://dx.doi.org/10.1002/ajmg.a.30845DOI Listing
August 2005

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.

Am J Med Genet A 2003 Dec;123A(3):279-84

Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20293
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http://dx.doi.org/10.1002/ajmg.a.20293DOI Listing
December 2003

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

Am J Med Genet A 2003 Apr;118A(3):223-8

Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399, USA.

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http://doi.wiley.com/10.1002/ajmg.a.10026
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http://dx.doi.org/10.1002/ajmg.a.10026DOI Listing
April 2003