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Christina Nassif

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
2017 · Fadi F. Hamdan, Candace T. Myers, et al. · The American Journal of Human Genetics · 446
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De Novo Mutations in Moderate or Severe Intellectual Disability
2014 · Fadi F. Hamdan, Myriam Srour, et al. · PLoS Genetics · 419
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Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies
2014 · Thierry Brue, Marie-Hélène Quentien, et al. · BMC Medical Genetics · 95
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
2019 · Scott Bell, Justine Rousseau, et al. · The American Journal of Human Genetics · 87
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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
2017 · Sarah Boissel, Catherine Fallet-Bianco, et al. · Genetics in Medicine · 84
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Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures
2016 · A.A. Mahmud, N.A. Nahid, et al. · Clinical Genetics · 79
Functional Divergence between Co-chaperones of Hsc70
2008 · Stefan Tzankov, Michael J.H. Wong, et al. · Journal of Biological Chemistry · 77
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
2015 · Myriam Srour, Fadi F. Hamdan, et al. · The American Journal of Human Genetics · 70
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SIRT1 negatively regulates HDAC1-dependent transcriptional repression by the RBP1 family of proteins
2008 · O Binda, C Nassif, et al. · Oncogene · 61
The cleavage of HuR interferes with its transportin-2-mediated nuclear import and promotes muscle fiber formation
2010 · P Beauchamp, C Nassif, et al. · Cell Death and Differentiation · 56
A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly
2015 · M. Srour, F. F. Hamdan, et al. · Clinical Genetics · 47
Refining the phenotype associated with biallelic DNAJC21 mutations
2018 · G. D'Amours, F. Lopes, et al. · Clinical Genetics · 46
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Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria
2015 · José-Mario Capo-Chichi, Sarah Boissel, et al. · Journal of Medical Genetics · 45
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
2018 · Rebekah Jobling, Dimitri James Stavropoulos, et al. · Journal of Medical Genetics · 37
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Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy
2017 · Myriam Srour, Noriaki Shimokawa, et al. · The American Journal of Human Genetics · 37
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A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies
2018 · Andrea Accogli, Fadi F. Hamdan, et al. · American Journal of Medical Genetics Part A · 15
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
2022 · Samir Bouasker, Nisha Patel, et al. · Journal of Medical Genetics · 7
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Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis
2018 · Sarah Boissel, Catherine Fallet-Bianco, et al. · Obstetrical & Gynecological Survey · 2
Compromised striatal structure and function in mouse models of RARB-related disorder
2026 · Nicolas Zinter, Devanshi Shah, et al. · Brain · 1
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Methylation Specific Multiplex Droplet PCR using Polymer Droplet Generator Device for Hematological Diagnostics
2020 · Lidija Malic, Abdelrahman Elmanzalawy, et al. · Journal of Visualized Experiments
Works count: 20
Citation count: 1,711
H-index: 15
I10-index: 16
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