Publications by authors named "Emmanuelle Ranza"

28Publications

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genet Med 2020 Nov 4. Epub 2020 Nov 4.

Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41436-020-00988-9DOI Listing
November 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants.

J Neurosci 2020 07 5;40(28):5376-5388. Epub 2020 Jun 5.

Department of Neurobiology and Anatomy, University of Utah School of Medicine, Salt Lake City, Utah 84112

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http://dx.doi.org/10.1523/JNEUROSCI.3058-19.2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343328PMC
July 2020

SCN8A heterozygous variants are associated with anoxic-epileptic seizures.

Am J Med Genet A 2020 05 10;182(5):1209-1216. Epub 2020 Feb 10.

Pediatric Neurology Unit, Child and Adolescent Department, Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.61513DOI Listing
May 2020

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:

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

[Genetics of hearing disorders in children].

Rev Med Suisse 2019 Oct;15(665):1740-1745

Département des neurosciences cliniques, Service d'oto-rhino-laryngologie et de chirurgie cervico-faciale, HUG, 1211 Genève 14.

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October 2019

A 19-month-old Boy With Refractory Cervical Adenitis.

Pediatr Infect Dis J 2019 10;38(10):1071

From the Department of Pediatrics, Children's Hospital of Geneva.

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http://dx.doi.org/10.1097/INF.0000000000002336DOI Listing
October 2019

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Neuropediatrics 2019 10 21;50(5):308-312. Epub 2019 Jun 21.

Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0039-1688410DOI Listing
October 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:

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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

A triad of infantile spasms, nystagmus and a focal tonic seizure.

Epileptic Disord 2018 Aug;20(4):295-300

Pediatric Neurology Unit, University Hospitals Geneva, Switzerland.

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http://dx.doi.org/10.1684/epd.2018.0984DOI Listing
August 2018

[Genetic aspects of movement disorders of adulthood].

Rev Med Suisse 2018 Apr;14(604):879-882

Medigenome, Swiss Institute of Genomic Medicine et Département de médecine génétique, Université de Genève, 1211 Genève.

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April 2018

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Am J Med Genet A 2017 Sep 20;173(9):2456-2460. Epub 2017 Jun 20.

Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.38317
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38317DOI Listing
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Cerebellum 2016 12;15(6):829-831

Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.

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http://dx.doi.org/10.1007/s12311-015-0749-6DOI Listing
December 2016