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Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...]

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

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New York, NY [u.a.]: Wiley, 2019

Published in: Human mutation ; 40, 3 (2019), 267-280
Santoni, Federico A; Guerra, Jessica; Luban, Jeremy

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

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Springer Science and Business Media LLC, 2012

Published in: Retrovirology, 9 (2012) 1
Rapti, Melivoia; Zouaghi, Yassine; Meylan, Jenny; Ranza, Emmanuelle; Antonarakis, Stylianos E; Santoni, Federico A

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

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Oxford University Press (OUP), 2022

Published in: Briefings in Bioinformatics, 23 (2022) 2
Santoni, Federico A.; Stamoulis, Georgios; Garieri, Marco; Falconnet, Emilie; Ribaux, Pascale; Borel, Christelle; Antonarakis, Stylianos E.

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

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Elsevier BV, 2017

Published in: The American Journal of Human Genetics, 100 (2017) 3, Seite 444-453
Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Santoni, Federico A.; Antonarakis, Stylianos E.; Feki, Anis

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

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Elsevier BV, 2014

Published in: Genomics Data, 2 (2014), Seite 226-229
Santoni, Federico A.; Makrythanasis, Periklis; Nikolaev, Sergey; Guipponi, Michel; Robyr, Daniel; Bottani, Armand; Antonarakis, Stylianos E.

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

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Cold Spring Harbor Laboratory, 2014

Published in: Genome Research, 24 (2014) 2, Seite 349-355
Stekelenburg, Caroline; Blouin, Jean-Louis; Santoni, Federico; Zaghloul, Norann; O’Hare, Elisabeth A.; Dusaulcy, Rodolphe; Maechler, Pierre; Schwitzgebel, Valerie M.

Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity

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Springer Science and Business Media LLC, 2022

Published in: Scientific Reports, 12 (2022) 1
Ronconi, Federico; Santoni, Marie-Pierre; Nastasi, Francesco; Bruno, Giuseppe; Argazzi, Roberto; Berardi, Serena; Caramori, Stefano; Bignozzi, Carlo A.; Campagna, Sebastiano

Charge injection into nanostructured TiO2 electrodes from the photogenerated reduced form of a new Ru(ii) polypyridine compound: the “anti-biomimetic” mechanism at work

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Royal Society of Chemistry (RSC), 2016

Published in: Dalton Transactions, 45 (2016) 36, Seite 14109-14123
Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico A.; Zaki, Maha; Issa, Mahmoud Y.; Ansar, Muhammad; Hamamy, Hanan; Antonarakis, Stylianos E.

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

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Springer Science and Business Media LLC, 2016

Published in: Human Genomics, 10 (2016) 1
Porcu, Eleonora; Claringbould, Annique; Weihs, Antoine; Lepik, Kaido; Richardson, Tom G.; Völker, Uwe; Santoni, Federico A.; Teumer, Alexander; Franke, Lude; Reymond, Alexandre; Kutalik, Zoltán

Limited evidence for blood eQTLs in human sexual dimorphism

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Springer Science and Business Media LLC, 2022

Published in: Genome Medicine, 14 (2022) 1
Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, M Reza; Dahoun, Sophie; Santoni, Federico A; Gimelli, Stefania; Guipponi, Michel; Pelte, Marie Françoise; Béna, Frédérique; Antonarakis, Stylianos E; Feki, Anis

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

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Springer Science and Business Media LLC, 2014

Published in: EMBO Molecular Medicine, 6 (2014) 2, Seite 259-277
Nikolaev, Sergey I.; Santoni, Federico; Vannier, Anne; Falconnet, Emilie; Giarin, Emanuela; Basso, Giuseppe; Hoischen, Alexander; Veltman, Joris A.; Groet, Jurgen; Nizetic, Dean; Antonarakis, Stylianos E.

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome

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American Society of Hematology, 2013

Published in: Blood, 122 (2013) 4, Seite 554-561
Ansar, Muhammad; Ebstein, Frédéric; Özkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

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Oxford University Press (OUP), 2020

Published in: Human Molecular Genetics, 29 (2020) 7, Seite 1132-1143
Rao, Ali Raza; Nazir, Aamir; Imtiaz, Samina; Paracha, Sohail Aziz; Waryah, Yar Muhammad; Ujjan, Ikram Din; Anwar, Ijaz; Iqbal, Afia; Santoni, Federico A.; Shah, Inayat; Gul, Khitab; Baig, Hafiz Muhammad Azhar; Waryah, Ali Muhammad; Antonarakis, Stylianos E.; Ansar, Muhammad

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

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MDPI AG, 2023

Published in: Genes, 14 (2023) 2, Seite 404
Antonarakis, Stylianos E; Holoubek, Aleš; Rapti, Melivoia; Rademaker, Jesse; Meylan, Jenny; Iwaszkiewicz, Justyna; Zoete, Vincent; Wilson, Callum; Taylor, Juliet; Ansar, Muhammad; Borel, Christelle; Menzel, Olivier; Kuželová, Kateřina; Santoni, Federico A

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

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Oxford University Press (OUP), 2021

Published in: Human Molecular Genetics, 31 (2021) 1, Seite 1-9
Ansar, Muhammad; Paracha, Sohail Aziz; Serretti, Alessandro; Sarwar, Muhammad T; Khan, Jamshed; Ranza, Emmanuelle; Falconnet, Emilie; Iwaszkiewicz, Justyna; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Santoni, Federico A; Zoete, Vincent; Megarbane, Andre; Ahmed, Jawad; Colombo, Roberto; Makrythanasis, Periklis; Antonarakis, Stylianos E

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

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Oxford University Press (OUP), 2019

Published in: Human Molecular Genetics, 28 (2019) 6, Seite 972-979
Popadin, Konstantin; Peischl, Stephan; Garieri, Marco; Sailani, M. Reza; Letourneau, Audrey; Santoni, Federico; Lukowski, Samuel W.; Bazykin, Georgii A.; Nikolaev, Sergey; Meyer, Diogo; Excoffier, Laurent; Reymond, Alexandre; Antonarakis, Stylianos E.

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

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Cold Spring Harbor Laboratory, 2018

Published in: Genome Research, 28 (2018) 1, Seite 1-10
Ansar, Muhammad; Chung, Hyunglok; Waryah, Yar M; Makrythanasis, Periklis; Falconnet, Emilie; Rao, Ali Raza; Guipponi, Michel; Narsani, Ashok K; Fingerhut, Ralph; Santoni, Federico A; Ranza, Emmanuelle; Waryah, Ali M; Bellen, Hugo J; Antonarakis, Stylianos E

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

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Oxford University Press (OUP), 2018

Published in: Human Molecular Genetics, 27 (2018) 15, Seite 2703-2711
Sailani, M. Reza; Santoni, Federico A.; Letourneau, Audrey; Borel, Christelle; Makrythanasis, Periklis; Hibaoui, Youssef; Popadin, Konstantin; Bonilla, Ximena; Guipponi, Michel; Gehrig, Corinne; Vannier, Anne; Carre-Pigeon, Frederique; Feki, Anis; Nizetic, Dean; Antonarakis, Stylianos E.

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

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Public Library of Science (PLoS), 2015

Published in: PLOS ONE, 10 (2015) 8, Seite e0135555
Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A.; Antonarakis, Stylianos E.; Brussino, Alessandro; Brusco, Alfredo

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

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Oxford University Press (OUP), 2015

Published in: Human Molecular Genetics, 24 (2015) 11, Seite 3143-3154

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