Publications by authors named "Isis Atallah"

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Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants.
Antje Banning, Lukas Hoeren, Isis Atallah, Ralph Orczyk, David Jacquier

Cells· July 2025

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Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia.
Alessandra Pia Porretta, Mathieu Le Bloa, Zahurul Alam Bhuiyan, Nicole Sekarski, Isis Atallah

JACC Clin Electrophysiol· April 2025

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Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.
Isis Atallah, Katarina Cisarova, Cécile Guenot, Estelle Dubruc, Andrea Superti-Furga

Am J Med Genet A· March 2025

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Nour Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Isis Atallah

Genet Med· March 2025

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Primary cutaneous T-cell lymphoma not otherwise specified reveals a novel RAB27A variant in Griscelli syndrome type 2.
Gabriela Blanchard, Isis Atallah, Maël Blanchard, Birgit Fehrenbacher, Martin Schaller

Br J Dermatol· February 2025

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Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Marie-Anne Morren, Heidi Fodstad, Hilde Brems, Nicola Bedoni, Emmanuella Guenova, Isis Atallah

J Med Genet· April 2024

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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Jérémie Courraud, Camille Engel, Angélique Quartier, Nathalie Drouot, Ursula Houessou, Isis Atallah

Mol Psychiatry· February 2024

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Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.
Ana M Cieza Rivera, Carlos Lobato Fuertes, Tania Fernández-Villa, Vicente Martín Sánchez, Isis Atallah

Orphanet J Rare Dis· February 2024

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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.
Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Atallah Isis

J Med Genet· January 2024

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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Isis Atallah

Eur J Hum Genet· November 2023

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Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Leo Pomar, Wawrzyniec Rieder, Estelle Dubruc, Fabienne Giuliano, Isis Atallah

Fetal Diagn Ther· July 2023

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Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1.
Ana M Cieza Rivera, Tania Fernández-Villa, Vicente Martín, Isis Atallah

Orphanet J Rare Dis· June 2023

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Isis Atallah

Eur J Hum Genet· April 2023

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[Constitutional diseases of bone: clinical flags].
Anne-Cécile Debrach, Aline Brégou, Elena Gonzalez Rodriguez, Zagorka Pejin, Camille Kumps, Isis Atallah

Rev Med Suisse· April 2023

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Natural history of KBG syndrome in a large European cohort.
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Isis Atallah

Hum Mol Genet· December 2022

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The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Isis Atallah

Eur J Med Genet· December 2022

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Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
Isis Atallah, Dominique McCormick, Jean-Marc Good, Mohammed Barigou, Montserrat Fraga

J Clin Lipidol· November 2022

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Increased serum concentrations of estrogen-induced growth factors Midkine and FGF2 in NF1 patients with plexiform neurofibroma.
Isis Atallah, Ana M Cieza Rivera, Octavio M Rivero Lezcano, Laura Tascón-González, Carolina González-Cortés

Am J Transl Res· May 2022

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Serena Galosi, Ban H Edani, Simone Martinelli, Hana Hansikova, Erik A Eklund, Isis Atallah

Brain· March 2022

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Isis Atallah

Genet Med· October 2021

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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Isis Atallah

Genet Med· October 2021

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Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Isis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, Virginie G Peter, Athina Fouriki

Clin Genet· June 2021

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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
Jean-Marc Good, Isis Atallah, Mayte Castro Jimenez, David Benninger, Thierry Kuntzer

Genes (Basel)· May 2021

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Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga

Mol Genet Metab Rep· March 2021

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MMP-13 and p53 in the progression of malignant peripheral nerve sheath tumors.
Nikola Holtkamp, Isis Atallah, Ali-Fuat Okuducu, Jana Mucha, Christian Hartmann

Neoplasia· August 2007

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