Susan Holder - Concepedia

Author

Susan Holder

Also Known As

Georgina Hollingsworth, Jenny Carmichael, Muriel Holder, Natalie Canham, Neeti Ghali, Roger James, S E Holder, S Holder, S. E Holder, S. E. Holder

Publications

6.7K

Citations

H-Index

107

Concepts

All Affiliations

London North West Healthcare NHS Trust University College London University of Cambridge Great Ormond Street Hospital University of Manchester

About

Susan Holder is an author at London North West Healthcare NHS Trust specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	20	27	3.6K
2	Public Health	6	6	754
3	Health Sciences	3	3	469
4	Social Sciences	3	3	171
5	Natural Sciences	2	2	386

Susan Holder

Publications

4.9K

Citations

H-Index

Page 1

	Year	Citations
Mutations of the RET proto-oncogene in Hirschsprung's disease Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan, Nature Mendelian DisorderGenetic DisorderMedicineGeneticsMolecular Genetics	1994	754
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Keren Carss, Gavin Arno, Marie Erwood, The American Journal of Human Genetics Whole-genome SequencingAllelic VariantGenetic DisorderMedicineGenetics	2016	463
Birth Defects Encyclopedia Susan Holder Archives of Disease in Childhood Developmental AnomalyInfertilityDysplasiaPediatricsGynecology	1991	429
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism Adam J. de Smith, Carolin Purmann, Robin Walters, Human Molecular Genetics Novel DeletionMetabolic DisorderGeneticsMolecular GeneticsIdentified Deletion	2009	352
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Corinne Stoetzel, Virginie Laurier, Erica E. Davis, Nature Genetics Protein FunctionVertebrate-specific Chaperonin-like ProteinProtein FoldingGeneticsMedicine	2006	284
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor Patrick Tarpey, F. Lucy Raymond, Sarah O’Meara, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsFragile X SpectrumNeuroscience	2007	223
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression Markus Zweier, Anne Gregor, Christiane Zweier, Human Mutation	2010	179
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, The American Journal of Human Genetics	2014	170
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism Morad Ansari, Gemma Poke, Quentin R. V. Ferry, Journal of Medical Genetics	2014	165
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription Cristina Dias, Sara B. Estruch, Sarah A. Graham, The American Journal of Human Genetics	2016	155

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