Sandra Whalen - Concepedia

Author

Sandra Whalen

Also Known As

A Afenjar, Alexandra Afenjar, Judith Melki, S Whalen, S. Whalen, S.P Whalen, Sandra Whalen, Whalen S, Whalen Sandra, Whalen, S.

103

Publications

3.2K

Citations

H-Index

Concepts

All Affiliations

Sorbonne Université Assistance Publique – Hôpitaux de Paris Hôpital Armand-Trousseau Inserm Pitié-Salpêtrière Hospital

About

Sandra Whalen is an author at Sorbonne Université specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	25	32	2K
2	Education	1	1	103
3	Engineering	1	1	29
4	Health Sciences	1	1	128
5	Public Health	1	1	15

Sandra Whalen

Publications

2.8K

Citations

H-Index

Page 1

	Year	Citations
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, The American Journal of Human Genetics Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation	2020	309
FXTAS Emmanuelle Apartis, Anne Blancher, Wassilios G. Meissner, Neurology	2012	175
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsCerebral Palsy	2020	170
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing Paul Kuentz, Judith St‐Onge, Yannis Duffourd, Genetics in Medicine Molecular DiagnosisGenetic TestingMendelian DisorderGenetic DisorderMedicine	2017	133
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum Sandra Whalen, Delphine Héron, Thierry Gaillon, Human Mutation Missense MutationsClinical Diagnosis ScoreGeneticsGenetic EpidemiologyDiagnosis	2011	128
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Human Mutation	2010	124
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE Caroline Nava, Foudil Lamari, Delphine Héron, Translational Psychiatry Autism Spectrum DisordersGeneticsPathologyMolecular BiologyDisease Gene Identification	2012	109
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects Emma Hilton, Jennifer J. Johnston, Sandra Whalen, European Journal of Human Genetics Bcor AnalysisClinical DisordersOphthalmologyLenz Microphthalmia SyndromesNeurology	2009	108
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients Elouan Chérot, Boris Keren, Christèle Dubourg, Clinical Genetics Neurological DisorderGeneticsEducationDisease Gene IdentificationGenetic Centers	2017	103
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Maxime Ferreboeuf, Virginie Mariot, Bettina Bessières, Human Molecular Genetics Facioscapulohumeral Muscular DystrophyCell LineageDevelopmental BiologyMuscle FunctionSkeletal Muscle	2013	82

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