Publications by authors named "Marc Abramowicz"

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Adult-Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With Mutation.
Marc Scheen, Grégoire Arnoux, Philippe Khau Van Kien, Thomas Rio Frio, Giorgio Enrico Bravetti, Marc Abramowicz

Kidney Med· November 2025

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Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.
Omar Zgheib, Thomas Rio Frio, Jean-Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Marc Abramowicz

Clin Genet· September 2025

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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, Marc Abramowicz

Am J Hum Genet· July 2025

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Resilience in Alzheimer's disease: Impact of operationalization and methodological choices.
Sophie Mutel, Lara Quatrocchi, Daniele Altomare, Christian Chicherio, Max Scheffler, Marc Abramowicz

Alzheimers Dement· April 2025

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Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.
Sacha Laurent, Anne Vannier, Corinne Gehrig, Marc Abramowicz, Ariane Paoloni-Giacobino

Eur J Med Genet· February 2025

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The WHO genomics program of work for equitable implementation of human genomics for global health.
Elena Ambrosino, Ahmad N Abou Tayoun, Marc Abramowicz, Bin Alwi Zilfalil, Tiffany Boughtwood

Nat Med· October 2024

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Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
Sarah McNeilly, Cameron R Thomson, Laura Gonzalez-Trueba, Yuan Yan Sin, Alessandra Granata, Marc Abramowicz

EBioMedicine· September 2024

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The Taxonomy of Subjective Cognitive Decline: Proposal and First Clinical Evidence from the Geneva Memory Clinic Cohort.
Federica Ribaldi, Rafael Palomo, Daniele Altomare, Max Scheffler, Frederic Assal, Marc Abramowicz

Neurodegener Dis· July 2024

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: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Marc Abramowicz

J Pers Med· June 2024

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Comparison of plasma and neuroimaging biomarkers to predict cognitive decline in non-demented memory clinic patients.
Augusto J Mendes, Federica Ribaldi, Aurelien Lathuiliere, Nicholas J Ashton, Henrik Zetterberg, Marc Abramowicz

Alzheimers Res Ther· May 2024

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Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal mutation detection.
Valérie M Schwitzgebel, Jean-Louis Blouin, Barbara Dehos, Bettina Köhler-Ballan, Jardena J Puder, Marc Abramowicz

Front Med (Lausanne)· April 2024

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A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases.
Maha Al-Thani, Mary Goodwin-Trotman, Steven Bell, Krushangi Patel, Lauren K Fleming, Marc Abramowicz

Stem Cell Reports· December 2023

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Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.
Siv Fokstuen, Lina Quteineh, Valérie M Schwitzgebel, Bettina Köhler-Ballan, Jean-Louis Blouin, Marc Abramowicz

Clin Genet· November 2023

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[Clinical utility of Genome Boards for patients with complex genetic diseases].
Eva B Hammar, Marc Abramowicz

Rev Med Suisse· November 2023

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Novel transcriptomic signatures associated with premature kidney allograft failure.
Petra Hruba, Jiri Klema, Anh Vu Le, Eva Girmanova, Petra Mrazova, Marc Abramowicz, Daniel Abramowicz

EBioMedicine· October 2023

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Variable Intrafamilial Expression of ABCB4 Disease.
Lucia Zampaglione, Anne-Laure Rougemont, Laura Rubbia-Brandt, Marc Abramowicz, Michel Guipponi

ACG Case Rep J· August 2023

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Hereditary risk factors of rejection: granular rather than universal.
Annick Massart, Lidia Ghisdal, Daniel Abramowicz, Marc Abramowicz

J Nephrol· May 2023

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A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers.
Moira Marizzoni, Peppino Mirabelli, Elisa Mombelli, Luigi Coppola, Cristina Festari, Marc Abramowicz

Alzheimers Res Ther· May 2023

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An exome-wide study of renal operational tolerance.
Annick Massart, Richard Danger, Catharina Olsen, Mary J Emond, Ondrej Viklicky, Daniel Abramowicz, Marc Abramowicz

Front Med (Lausanne)· May 2023

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Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie-Thérèse Abi-Warde, Marc Abramowicz

Clin Genet· March 2023

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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Marc Abramowicz

Hum Genomics· March 2023

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Dementia prevention in memory clinics: recommendations from the European task force for brain health services.
Giovanni B Frisoni, Daniele Altomare, Federica Ribaldi, Nicolas Villain, Carol Brayne, Marc Abramowicz

Lancet Reg Health Eur· March 2023

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The taxonomy of subjective cognitive decline: proposal and first clinical evidence from the Geneva memory clinic cohort.
Federica Ribaldi, Rafael Palomo, Daniele Altomare, Max Scheffler, Frederic Assal, Marc Abramowicz

Res Sq· February 2023

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The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
Judit Kumuthini, Brittany Zick, Angeliki Balasopoulou, Constantina Chalikiopoulou, Collet Dandara, Marc Abramowicz

Hum Genet· November 2022

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An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.
Rim Sakka, Fatma Abdelhedi, Hanen Sellami, Bruno Pichon, Yosra Lajmi, Marc Abramowicz

Eur J Med Genet· November 2022

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