Sandra Mercier

Centre National de la Recherche Scientifique — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index3.8kcitations148works3.42yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(31), Genomics and Rare Diseases(20), Neurogenetic and Muscular Disorders Research(20), Muscle Physiology and Disorders(19), Hedgehog Signaling Pathway Studies(15)

Publications144 total

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
JAMA Network Open·2025· 1 citedOpen Access
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Cell·2025· 6 citedOpen Access
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development
Journal of Clinical Investigation·2025· 1 citedOpen Access
2763P Treatment patterns and outcomes of clinical stage I small cell lung cancer (SCLC) in the Canadian SCLC database (CASCADE)
Annals of Oncology·2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up
EBioMedicine·2025Open Access
Role of CAMK2D in neurodevelopment and associated conditions
The American Journal of Human Genetics·2025Open Access
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With <i>SH3TC2</i> Gene‐Related Demyelinating Peripheral Neuropathy
European Journal of Neurology·2025· 1 citedOpen Access
Commentary on <i>UBTF</i> haploinsufficiency associated with <i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregression
Journal of Medical Genetics·2025· 1 citedOpen Access
Neuropathy in <scp>GAA</scp>‐<scp>FGF14</scp> Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>): Prevalence and Characteristics
European Journal of Neurology·2025· 5 citedOpen Access
Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at <scp> <i>GRIA2</i> </scp> p.Gly792 and <scp> <i>GRIA3</i> </scp> p.Gly803
Clinical Genetics·2025· 1 citedOpen Access
Author response for "Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at &lt;scp&gt;&lt;i&gt;GRIA2&lt;/i&gt;&lt;/scp&gt; p.Gly792 and &lt;scp&gt;&lt;i&gt;GRIA3&lt;/i&gt;&lt;/scp&gt; p.Gly803"
2025
Acid Ceramidase Deficiency
Neurology Genetics·2025· 1 citedOpen Access
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Genetics in Medicine·2024· 4 citedOpen Access
Further delineation of the SCAF4-associated neurodevelopmental disorder
European Journal of Human Genetics·2024· 4 citedOpen Access
588P Phenotype variability and natural history of X-linked myopathy with excessive autophagy running head: natural history of XMEA
Neuromuscular Disorders·2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Orphanet Journal of Rare Diseases·2024· 13 citedOpen Access
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
2024· 4 citedOpen Access
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?
Frontiers in Cell and Developmental Biology·2024Open Access
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
The American Journal of Human Genetics·2024· 7 citedOpen Access
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene
Neurology Clinical Practice·2024· 3 citedOpen Access
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Frequent Co-authors

Sylvie Odent(17), Bertrand Isidor(14), Sébastien Küry(13), Stéphane Bezieau(13), Marie Vincent(11), Laurent Pasquier(11), Christèle Dubourg(9), Thomas Besnard(9), Mathilde Nizon(9), Yann Péréon(8), Armelle Magot(7), Jill A. Rosenfeld(7), Véronique David(7), Benjamin Cogné(7), Xénia Latypova(7), Annick Toutain(6), Laurence Faivre(6), Richard Redon(6), Pascale Marcorelles(6), Isabelle Desguerre(5)