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Emmanuelle Ranza

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
2017 · Konrad Platzer, Hongjie Yuan, et al. · Journal of Medical Genetics · 253
Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
2015 · Jennie E. Murray, Mirjam van der Burg, et al. · The American Journal of Human Genetics · 85
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Focal cortical malformations in children with early infantile epilepsy and PCDH 19 mutations: case report
2017 · Mary Kurian, Christian M Korff, et al. · Developmental Medicine & Child Neurology · 70
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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
2019 · Muhammad Ansar, Emmanuelle Ranza, et al. · Human Molecular Genetics · 64
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
2020 · Andreea Manole, Stephanie Efthymiou, et al. · The American Journal of Human Genetics · 61
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2020 · Hannah Stamberger, Trine B. Hammer, et al. · Genetics in Medicine · 57
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
2021 · J. den Hoed, E. de Boer, et al. · The American Journal of Human Genetics · 52
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
2021 · Lance H. Rodan, Rebecca C. Spillmann, et al. · Genetics in Medicine · 49
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Growth Arrest Specific Gene 6 Protein Concentration in Cerebrospinal Fluid Correlates with Relapse Severity in Multiple Sclerosis
2013 · P. P. Sainaghi, L. Collimedaglia, et al. · Mediators of Inflammation · 47
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Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
2020 · Muhammad Ansar, Frédéric Ebstein, et al. · Human Molecular Genetics · 44
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
2019 · Lindsay C. Burrage, John J. Reynolds, et al. · The American Journal of Human Genetics · 38
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FOXI3 pathogenic variants cause one form of craniofacial microsomia
2023 · Ke Mao, Christelle Borel, et al. · Nature Communications · 36
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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
2018 · Muhammad Ansar, Hyung-lok Chung, et al. · The American Journal of Human Genetics · 36
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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
2019 · Muhammad Ansar, Hyung-lok Chung, et al. · The American Journal of Human Genetics · 35
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De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
2020 · Toshiyuki Itai, Kohei Hamanaka, et al. · Human Mutation · 34
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
2021 · Audrey Schalk, Margot A. Cousin, et al. · Journal of Medical Genetics · 32
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
2016 · S. Fokstuen, P. Makrythanasis, et al. · Human Genomics · 32
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GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
2022 · Maria Lucia Cediel, Michal Stawarski, et al. · The American Journal of Human Genetics · 31
Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants
2020 · Matthew R. Taylor, E. Anne Martin, et al. · Journal of Neuroscience · 28
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Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
2019 · Muhammad Ansar, Farid Ullah, et al. · The American Journal of Human Genetics · 28
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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
2018 · Muhammad Ansar, Hyunglok Chung, et al. · Human Molecular Genetics · 24
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Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
2021 · Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, et al. · Genes · 23
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Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
2018 · Muhammad Ansar, Sohail Aziz Paracha, et al. · Human Molecular Genetics · 23
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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
2016 · E. Ranza, C. Huber, et al. · Clinical Genetics · 23
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother
2018 · Nelle Lambert, Corinne Dauve, et al. · Journal of Human Genetics · 22
Works count: 80
Citation count: 1,448
H-index: 23
I10-index: 37
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