Publications by authors named "Periklis Makrythanasis"

58Publications

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Am J Hum Genet 2019 11 10;105(5):907-920. Epub 2019 Oct 10.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848997PMC
November 2019

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Am J Hum Genet 2019 06 9;104(6):1073-1087. Epub 2019 May 9.

Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556908PMC
June 2019

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Am J Hum Genet 2018 10;103(4):568-578

Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174361PMC
October 2018

Defining categories of actionability for secondary findings in next-generation sequencing.

J Med Ethics 2017 05 30;43(5):346-349. Epub 2016 Dec 30.

Institute for Ethics, History, and the Humanities, University of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/medethics-2016-103677DOI Listing
May 2017

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104PMC
December 2016

Choking Fits During Sleep Related to Epilepsy.

Am J Med 2016 08 3;129(8):e137-8. Epub 2016 May 3.

Department of Neurology, University Hospitals and Medical School of Geneva, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjmed.2016.04.010DOI Listing
August 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 2016

CATCHing putative causative variants in consanguineous families.

BMC Bioinformatics 2015 Sep 28;16:310. Epub 2015 Sep 28.

Department of Genetic Medicine and Development, University of Geneva, Rue Michel Servet 1, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12859-015-0727-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587650PMC
September 2015

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.

PLoS One 2015 28;10(8):e0135555. Epub 2015 Aug 28.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; National Center of Competence in Research Frontiers in Genetics Program, University of Geneva, Geneva, Switzerland; iGE3 institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135555PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552626PMC
May 2016

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

PLoS Genet 2015 Jan 29;11(1):e1004958. Epub 2015 Jan 29.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence in Genomic Medicine Research, KingAbdulaziz University, Jeddah, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310612PMC
January 2015

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

BMC Med Genet 2014 Dec 17;15:135. Epub 2014 Dec 17.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-014-0135-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411870PMC
December 2014

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.

Bone 2014 Nov 30;68:142-5. Epub 2014 Aug 30.

Département d'Endocrinologie, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2014.08.014DOI Listing
November 2014

Next generation diagnostics on cardiomyopathy.

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. Epub 2014 Jan 21.

Genetic Medicine, University Hospitals of Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-7-S1-I4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044414PMC
June 2014

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

Hum Mutat 2014 Aug 28;35(8):959-63. Epub 2014 Jun 28.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22597DOI Listing
August 2014

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

Neurology 2014 Jun 9;82(23):2101-6. Epub 2014 May 9.

From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000488DOI Listing
June 2014

Analysis of the Born in Bradford birth cohort.

Lancet 2014 Jan;383(9912):123

Institute for Biomedical Ethics University of Geneva Medical School, 1211 Geneva, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(14)60019-2DOI Listing
January 2014

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

Genome Res 2014 Feb 3;24(2):349-55. Epub 2014 Jan 3.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.163832.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912425PMC
February 2014

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

Am J Med Genet A 2014 Mar 20;164A(3):666-70. Epub 2013 Dec 20.

Neonatal Special Care Unit, General Hospital of Chania, Crete, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36346DOI Listing
March 2014

Passive and active DNA methylation and the interplay with genetic variation in gene regulation.

Elife 2013 Jun 4;2:e00523. Epub 2013 Jun 4.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, Geneva, Switzerland [corrected]; Swiss Institute of Bioinformatics, Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7554/eLife.00523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673336PMC
June 2013

Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.

Birth Defects Res A Clin Mol Teratol 2012 Jun 18;94(6):494-8. Epub 2012 Apr 18.

Department of Medical Genetics, Medical School, University of Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23015DOI Listing
June 2012

Adhesion molecules and high-sensitivity C-reactive protein levels in patients with sickle cell beta-thalassaemia.

Eur J Clin Invest 2012 Jan 25;42(1):27-33. Epub 2011 May 25.

Department of Clinical Biochemistry, Aghia Sophia Children's Hospital, Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2362.2011.02551.xDOI Listing
January 2012

From sequence to functional understanding: the difficult road ahead.

Genome Med 2011 Apr 6;3(4):21. Epub 2011 Apr 6.

Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gm235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129637PMC
April 2011

Milroy's primary congenital lymphedema in a male infant and review of the literature.

In Vivo 2010 May-Jun;24(3):309-14

"Choremeio" Research Laboratory of Medical Genetics, Children's Hospital "Aghia Sophia", Thivon and Levadeias, 11527, Greece.

View Article

Download full-text PDF

Source
August 2010

Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion.

Pediatr Dev Pathol 2010 Sep-Oct;13(5):423-6. Epub 2010 Apr 29.

Division of Clinical Pathology, Geneva University Hospitals, 1211 Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2350/09-11-0743-CR.1DOI Listing
February 2011

Association of TLR4 single-nucleotide polymorphisms and sarcoidosis in Greek patients.

Genet Test Mol Biomarkers 2009 Dec;13(6):849-53

Laboratory of Analytical Chemistry, Department of Chemistry, Athens University, Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2009.0117DOI Listing
December 2009

Soluble endothelial adhesion molecules and inflammation markers in patients with beta-thalassemia intermedia.

Blood Cells Mol Dis 2009 Nov-Dec;43(3):230-4. Epub 2009 Aug 4.

Department of Clinical Biochemistry, Aghia Sophia Children's Hospital, 115 27 Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bcmd.2009.06.002DOI Listing
December 2009

Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population.

J Orthop Res 2008 Nov;26(11):1466-70

Department of Biology, University of Thessalia, Medical School, 22 Papakyriazi str. 41 222 Larisa, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jor.20634DOI Listing
November 2008