Antonie D. Kline - Concepedia

Author

Antonie D. Kline

Also Known As

A D Kline, A Kline, A. D. Kline, A.D. Kline, Amy E. Kline, Antonie D Kline, Antonie D. Kline, Antonie Kline, Antonie D. Kline, Kline, A

119

Publications

4.6K

Citations

H-Index

Concepts

All Affiliations

Greater Baltimore Medical Center Children's Hospital of Philadelphia Johns Hopkins University University of Pennsylvania Johns Hopkins Medicine

About

Antonie D. Kline is an author at Greater Baltimore Medical Center specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	20	2K
2	Public Health	2	2	214
3	Arts	1	1	15
4	Natural Sciences	1	1	23
5	Social Sciences	1	1	24

Antonie D. Kline

Publications

Citations

H-Index

Page 1

	Year	Citations
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, The American Journal of Human Genetics Developmental AnomalySmc1a CauseMendelian DisorderGenetic DisorderGenetics	2007	518
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Lot Snijders Blok, Erik Madsen, Jane Juusola, The American Journal of Human Genetics Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics	2015	324
NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, The American Journal of Human Genetics Genotype-phenotype CorrelationsMendelian DisorderGenetic DisorderGeneticsLange Syndrome	2004	312
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, The American Journal of Human Genetics Developmental AnomalyClinical DisordersDevelopmental BiologyMendelian DisorderGenetic Disorder	2015	156
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Frank J. Kaiser, Morad Ansari, Diana Braunholz, Human Molecular Genetics GeneticsImmunodeficienciesGenetic EpidemiologyPathologyMolecular Genetics	2014	146
Molecular analysis of the 18q- syndrome--and correlation with phenotype. Antonie D. Kline, Mary E. White, Ronald J. Wapner, PubMed	1993	108
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey Sarika Rohatgi, Dinah Clark, Antonie D. Kline, American Journal of Medical Genetics Part A	2010	94
Noonan syndrome in diverse populations Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, American Journal of Medical Genetics Part A	2017	89
Growth manifestations in the Brachmann‐de Lange syndrome Antonie D. Kline, Marie Barr, Laird G. Jackson American Journal of Medical Genetics	1993	88
<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Human Mutation Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation	2015	88

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