Susan L. Christian - Concepedia

Author

Susan L. Christian

Also Known As

Christian S., Dobyns, William B, S L Christian, S. CHRISTIAN, S. Christian, S. L. Christian, S.L. Christian, SUSAN L. CHRISTIAN, Susan Christian, Susan L Christian

Publications

7.8K

Citations

H-Index

Concepts

All Affiliations

University of Chicago National Institutes of Health National Human Genome Research Institute Baylor College of Medicine University of Washington

About

Susan L. Christian is an author at University of Chicago specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	25	3K
2	Public Health	3	3	135
3	Social Sciences	3	3	227
4	Natural Sciences	2	2	436
5	Biology	1	1	82

Susan L. Christian

Publications

6.1K

Citations

H-Index

Page 1

	Year	Citations
Recurrent 16p11.2 microdeletions in autism Revati Kumar, Samer Karamohamed, Jyotsna Sudi, Human Molecular Genetics	2007	737
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region James S. Sutcliffe, Mitsuyoshi Nakao, Susan L. Christian, Nature Genetics Transcriptional RegulationCpg IslandNatural SciencesGeneticsEpigenetic Change	1994	422
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brain	2015	359
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Nature Genetics Baraitser-winter SyndromeGenetic DisorderGeneticsPathogenesisMolecular Genetics	2012	304
Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder Susan L. Christian, Camille W. Brune, Jyotsna Sudi, Biological Psychiatry Genetic DisorderGeneticsPathologyAutismMedicine	2008	299
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum Juliane Najm, Denise Horn, Isabella Wimplinger, Nature Genetics Neuro-oncologyDevelopmental BiologyEpendymaNeuroanatomyNeurology	2008	284
Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13) Susan L. Christian Human Molecular Genetics	1999	271
Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series* Eiji Hattori, Chunyu Liu, Judith A. Badner, The American Journal of Human Genetics Psychiatric DisordersPsychiatryGeneticsPsychiatric GeneticsHuman Polymorphism	2003	265
Methylation-specif ic PCR simplifies imprinting analysis Takeo Kubota, Soma Das, Susan L. Christian, Nature Genetics Epigenetic ChangeDna MethylationMass SpectrometryEpigenomicsMolecular Biology	1997	236
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females Eric D. Marsh, Carl T. Fulp, Ernest Gomez, Brain	2009	207

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