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FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37703-6
By:
- Mao, Ke;
- Borel, Christelle;
- Ansar, Muhammad;
- Jolly, Angad;
- Makrythanasis, Periklis;
- Froehlich, Christine;
- Iwaszkiewicz, Justyna;
- Wang, Bingqing;
- Xu, Xiaopeng;
- Li, Qiang;
- Blanc, Xavier;
- Zhu, Hao;
- Chen, Qi;
- Jin, Fujun;
- Ankamreddy, Harinarayana;
- Singh, Sunita;
- Zhang, Hongyuan;
- Wang, Xiaogang;
- Chen, Peiwei;
- Ranza, Emmanuelle
Publication type:
Article
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma ( POLG) Mutation.
Published in:
2016
By:
- Nicastro, Nicolas;
- Ranza, Emmanuelle;
- Antonarakis, Stylianos;
- Horvath, Judit
Publication type:
Report
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
Published in:
2022
By:
- Blanchard-Rohner, Geraldine;
- Peirolo, Anna;
- Coulon, Ludivine;
- Korff, Christian;
- Horvath, Judit;
- Burkhard, Pierre R.;
- Gumy-Pause, Fabienne;
- Ranza, Emmanuelle;
- Jandus, Peter;
- Dibra, Harpreet;
- Taylor, Alexander Malcolm R.;
- Fluss, Joel
Publication type:
Case Study
Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.773853
By:
- Luterbacher, Fanny;
- Bernard, Fanette;
- Baleydier, Frédéric;
- Ranza, Emmanuelle;
- Jandus, Peter;
- Blanchard-Rohner, Geraldine
Publication type:
Article
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
By:
- Ranza, Emmanuelle;
- Le Gouez, Morgane;
- Guimier, Anne;
- Dunlop, Naziha Khen;
- Beaudoin, Sylvie;
- Malan, Valérie;
- Michot, Caroline;
- Baujat, Geneviève;
- Rio, Marlène;
- Cormier‐Daire, Valérie;
- Abadie, Véronique;
- Sarnacki, Sabine;
- Delacourt, Christophe;
- Lyonnet, Stanislas;
- Attié‐Bitach, Tania;
- Pingault, Véronique;
- Rousseau, Véronique;
- Amiel, Jeanne
Publication type:
Article
SCN8A heterozygous variants are associated with anoxic‐epileptic seizures.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1209, doi. 10.1002/ajmg.a.61513
By:
- Ranza, Emmanuelle;
- Z'Graggen, Werner;
- Lidgren, Mathias;
- Beghetti, Maurice;
- Guipponi, Michel;
- Antonarakis, Stylianos E.;
- Absoud, Michael;
- Goyal, Sushma;
- Pal, Deb K.;
- Korff, Christian M.
Publication type:
Article
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2456, doi. 10.1002/ajmg.a.38317
By:
- Ranza, Emmanuelle;
- Garcia‐Tarodo, Stephanie;
- Varvagiannis, Konstantinos;
- Guipponi, Michel;
- Lobrinus, Johannes A.;
- Bottani, Armand;
- Kern, Ilse;
- Kurian, Mary;
- Pittet, Marie‐Pascale;
- Antonarakis, Stylianos E.;
- Fluss, Joel;
- Korff, Christian M.
Publication type:
Article
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.
Published in:
2018
By:
- Kurian, Mary;
- Korff, Christian M.;
- Ranza, Emmanuelle;
- Bernasconi, Andrea;
- Lübbig, Anja;
- Nangia, Srishti;
- Ramelli, Gian Paolo;
- Wohlrab, Gabriele;
- Nordli, Jr, Douglas R.;
- Bast, Thomas
Publication type:
Case Study
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
Published in:
Briefings in Bioinformatics, 2022, v. 23, n. 2, p. 1, doi. 10.1093/bib/bbac049
By:
- Rapti, Melivoia;
- Zouaghi, Yassine;
- Meylan, Jenny;
- Ranza, Emmanuelle;
- Antonarakis, Stylianos E;
- Santoni, Federico A
Publication type:
Article
Hyper‐IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters.
Published in:
Pediatric Allergy & Immunology, 2023, v. 34, n. 4, p. 1, doi. 10.1111/pai.13944
By:
- Peirolo, Anna;
- Verolet, Charlotte;
- Ranza, Emmanuelle;
- Rohr, Marie;
- Laurent, Meryle;
- Ruchonnet‐Metrailler, Isabelle;
- Worth, Austen J. J.;
- Blanchard‐Rohner, Geraldine
Publication type:
Article
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Published in:
Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
By:
- Ranza, Emmanuelle;
- Guimier, Anne;
- Verloes, Alain;
- Capri, Yline;
- Marques, Charles;
- Auclair, Martine;
- Mathieu‐Dramard, Michèle;
- Morin, Gilles;
- Thevenon, Julien;
- Faivre, Laurence;
- Thauvin‐Robinet, Christel;
- Innes, A. Micheil;
- Dyment, David A.;
- Vigouroux, Corinne;
- Amiel, Jeanne
Publication type:
Article
Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
Published in:
2021
By:
- Luczkowska, Karolina;
- Stekelenburg, Caroline;
- Sloan-Béna, Frédérique;
- Ranza, Emmanuelle;
- Gastaldi, Giacomo;
- Schwitzgebel, Valérie;
- Maechler, Pierre
Publication type:
Correction Notice
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
Published in:
Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00262-8
By:
- Luczkowska, Karolina;
- Stekelenburg, Caroline;
- Sloan-Béna, Frédérique;
- Ranza, Emmanuelle;
- Gastaldi, Giacomo;
- Schwitzgebel, Valérie;
- Maechler, Pierre
Publication type:
Article
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 7, p. 1132, doi. 10.1093/hmg/ddaa032
By:
- 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.
Publication type:
Article
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 4, p. 618, doi. 10.1093/hmg/ddz303
By:
- Ansar, Muhammad;
- Ranza, Emmanuelle;
- Shetty, Madhur;
- Paracha, Sohail A;
- Azam, Maleeha;
- Kern, Ilse;
- Iwaszkiewicz, Justyna;
- Farooq, Omer;
- Pournaras, Constantin J;
- Malcles, Ariane;
- Kecik, Mateusz;
- Rivolta, Carlo;
- Muzaffar, Waqar;
- Qurban, Aziz;
- Ali, Liaqat;
- Aggoun, Yacine;
- Santoni, Federico A;
- Makrythanasis, Periklis;
- Ahmed, Jawad;
- Qamar, Raheel
Publication type:
Article
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 6, p. 972, doi. 10.1093/hmg/ddy406
By:
- 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
Publication type:
Article
Kirrel3-mediated synapse formation is attenuated by disease-associated missense variants.
Published in:
Journal of Neuroscience, 2020, v. 40, n. 28, p. 5376, doi. 10.1523/JNEUROSCI.3058-19.2020
By:
- Taylor, Matthew R.;
- Martin, E. Anne;
- Sinnen, Brooke;
- Trilokekar, Rajdeep;
- Ranza, Emmanuelle;
- Antonarakis, Stylianos E.;
- Williams, Megan E.
Publication type:
Article
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130
By:
- Itai, Toshiyuki;
- Hamanaka, Kohei;
- Sasaki, Kazunori;
- Wagner, Matias;
- Kotzaeridou, Urania;
- Brösse, Ines;
- Ries, Markus;
- Kobayashi, Yu;
- Tohyama, Jun;
- Kato, Mitsuhiro;
- Ong, Winnie P.;
- Chew, Hui B.;
- Rethanavelu, Kavitha;
- Ranza, Emmanuelle;
- Blanc, Xavier;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Fujita, Atsushi;
- Azuma, Yoshiteru;
- Koshimizu, Eriko
Publication type:
Article
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Published in:
Genes, 2021, v. 12, n. 8, p. 1277, doi. 10.3390/genes12081277
By:
- Van Heurck, Roxane;
- Carminho-Rodrigues, Maria Teresa;
- Ranza, Emmanuelle;
- Stafuzza, Caterina;
- Quteineh, Lina;
- Gehrig, Corinne;
- Hammar, Eva;
- Guipponi, Michel;
- Abramowicz, Marc;
- Senn, Pascal;
- Guinand, Nils;
- Cao-Van, Helene;
- Paoloni-Giacobino, Ariane
Publication type:
Article

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