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Sandra Whalen

Observed names: S Whalen, S. Whalen, WHALEN, Sandra, Whalen S, Whalen Sandra, Whalen, S., Whalen, Sandra
Observed institutions: University of Hohenheim, University of Jordan, Inserm, University of Southern Denmark, Université Paris-Est Créteil, Aix-Marseille Université, Maastricht University Medical Centre, Sorbonne Université, Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris, CHU Dijon Bourgogne, Pitié-Salpêtrière Hospital, Institut de Neurobiologie de la Méditerranée, Centre Hospitalier Universitaire de Clermont-Ferrand, Hôpitaux Universitaires Henri-Mondor, Centre Hospitalier Universitaire Pointe-à-Pitre, Filadelfia, Hôpital Albert-Chenevier, Institut Mondor de Recherche Biomédicale, ERN EpiCARE, ERN ITHACA, Maladies génétiques d’expression pédiatrique, Centre de Recherche en Myologie, Université Pierre-et-Marie-Curie
ORCID: 0000-0001-9156-5047
Observed ORCID: 0000-0001-9156-5047
OpenAlex ID: A5023979646
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
2020 · Erfan Aref-Eshghi, Jennifer Kerkhof, et al. · The American Journal of Human Genetics · 334
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
2020 · Sheng Chih Jin, Sara A. Lewis, et al. · Nature Genetics · 180
FXTAS
2012 · Emmanuelle Apartis, Anne Blancher, et al. · Neurology · 175
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
2011 · Sandra Whalen, Delphine Héron, et al. · Human Mutation · 134
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
2017 · Paul Kuentz, Judith St-Onge, et al. · Genetics in Medicine · 131
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Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
2010 · Christel Depienne, Oriane Trouillard, et al. · Human Mutation · 125
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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients
2017 · E. Chérot, B. Keren, et al. · Clinical Genetics · 112
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Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
2012 · C Nava, F Lamari, et al. · Translational Psychiatry · 111
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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
2009 · Emma Hilton, Jennifer Johnston, et al. · European Journal of Human Genetics · 108
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Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
2019 · Marcella Zollino, Christiane Zweier, et al. · Clinical Genetics · 99
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
2019 · Karin Weiss, Hayley P. Lazar, et al. · Genetics in Medicine · 91
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DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
2013 · Maxime Ferreboeuf, Virginie Mariot, et al. · Human Molecular Genetics · 87
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
2017 · Anne-Claude Tabet, Thomas Rolland, et al. · npj Genomic Medicine · 79
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
2019 · Caroline Schluth-Bolard, Flavie Diguet, et al. · Journal of Medical Genetics · 77
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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
2013 · Caroline Nava, Boris Keren, et al. · European Journal of Human Genetics · 74
TCF4Deletions in Pitt-Hopkins Syndrome
2008 · Irina Giurgea, Chantal Missirian, et al. · Human Mutation · 69
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Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis
2016 · Jérôme Maluenda, Constance Manso, et al. · The American Journal of Human Genetics · 66
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
2019 · Henri Margot, Guilaine Boursier, et al. · Genetics in Medicine · 61
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
2021 · Annie Laquerriere, Dana Jaber, et al. · Journal of Medical Genetics · 59
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Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
2020 · Solveig Heide, Myrtille Spentchian, et al. · Genetics in Medicine · 56
PURA- Related Developmental and Epileptic Encephalopathy
2021 · Katrine M. Johannesen, Elena Gardella, et al. · Neurology Genetics · 53
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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
2021 · Thuy-Linh Le, Louise Galmiche, et al. · Journal of Clinical Investigation · 47
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Clinical delineation of SETBP1 haploinsufficiency disorder
2021 · Nadieh A. Jansen, Ruth O. Braden, et al. · European Journal of Human Genetics · 46
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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation
2019 · Maud Jordan, Virginie Carmignac, et al. · Journal of Investigative Dermatology · 46
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
2018 · T. Smol, F. Petit, et al. · Neurogenetics · 46
Works count: 107
Citation count: 3,416
H-index: 33
I10-index: 61
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