Publications by authors named "Melanie Rama"

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Course of Pregnancies and Occurrence of Acute Pancreatitis in Women with Chylomicronemia.
Miriam Larouche, Jean Bergeron, Diane Brisson, Nathalie Laflamme, Noémie Audet-Verreault, Melanie Rama

J Clin Endocrinol Metab· July 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Mélanie Rama

Nat Genet· June 2025

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NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.
Pauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, Mélanie Rama, Caroline Thuillier

Eur J Med Genet· February 2025

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Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.
Pauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, Perrine Brunelle, Caroline Thuillier

Am J Med Genet A· December 2024

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Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Mélanie Rama

Clin Genet· September 2024

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Mélanie Rama

Eur J Hum Genet· February 2024

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Recurrent "outsider" intronic variation in the 6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Mélanie Rama

Front Genet· January 2024

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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham, Mélanie Rama

Prenat Diagn· June 2023

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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Juliette Coursimault, Kévin Cassinari, François Lecoquierre, Olivier Quenez, Sophie Coutant, Mélanie Rama

Hum Mutat· December 2022

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Delineating the genotypic and phenotypic spectrum of -related neurodevelopmental disorders.
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Mélanie Rama

J Med Genet· July 2022

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Gain of function due to increased opening probability by two pore variants causing developmental and epileptic encephalopathy.
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaetan Lesca, Audrey Labalme, Mélanie Rama

Proc Natl Acad Sci U S A· April 2022

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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Jonathan Lévy, Bérénice Schell, Hala Nasser, Myriam Rachid, Lyse Ruaud, Mélanie Rama

Clin Genet· October 2021

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Reply to Sönmez et al.
Mélanie Rama, Isabelle Touitou, Guillaume Sarrabay

Eur J Hum Genet· November 2018

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A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme

Eur J Hum Genet· July 2018

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