Federico A Santoni

Federico A Santoni

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Federico A Santoni

Federico A Santoni

Publications by authors named "Federico A Santoni"

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28Publications

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

Am J Hum Genet 2019 Sep 27. Epub 2019 Sep 27.

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:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
September 2019

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

Am J Hum Genet 2019 Jun 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:

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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:

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

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.

Am J Hum Genet 2017 Mar 9;100(3):444-453. Epub 2017 Feb 9.

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

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http://dx.doi.org/10.1016/j.ajhg.2017.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339288PMC
March 2017

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.

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

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

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Genom Data 2014 Dec 1;2:226-9. Epub 2014 Aug 1.

Stem Cell Research Laboratory, Department of Obstetrics and Gynecology, Geneva University Hospitals, 30 bd de la Cluse, CH-1211 Geneva, Switzerland ; Department of Obstetrics and Gynecology, HFR Fribourg-Hôpital cantonal, Chemin des Pensionnats 2-6, Case postale 1708 Fribourg, Switzerland.

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http://ac.els-cdn.com/S2213596014000646/1-s2.0-S221359601400
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http://linkinghub.elsevier.com/retrieve/pii/S221359601400064
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http://dx.doi.org/10.1016/j.gdata.2014.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535757PMC
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:

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

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

HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency.

Retrovirology 2012 Dec 20;9:111. Epub 2012 Dec 20.

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

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https://retrovirology.biomedcentral.com/articles/10.1186/174
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http://dx.doi.org/10.1186/1742-4690-9-111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558390PMC
December 2012