Alan Shanske - Concepedia

Author

Alan Shanske

Also Known As

A Shanske, A. L. Shanske, A. Shanske, A.L. Shanske, Alan L Shanske, Alan L. Shanske, Alan Lawrence Shanske, Alan Shanske, Alan L. Shanske, Leena Ala-Kokko

113

Publications

3.2K

Citations

H-Index

113

Concepts

All Affiliations

Albert Einstein College of Medicine Children's Hospital at Montefiore Montefiore Medical Center Columbia University Queens Hospital Center

About

Alan Shanske is an author at Albert Einstein College of Medicine specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	29	1.6K
2	Arts	3	3	191
3	Natural Sciences	2	2	95
4	Health Sciences	1	1	118
5	Language Studies	1	1	177

Alan Shanske

Publications

2.5K

Citations

H-Index

Page 1

	Year	Citations
Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies Lillian Y. F. Hsu, Sara Kaffe, Edmund C. Jenkins, Prenatal Diagnosis CytogeneticsGeneticsPathologyPseudomosaicism StudiesChromosome Abnormality	1992	199
AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation Lisa Edelmann, Elizabeth Spiteri, Kobe Koren, The American Journal of Human Genetics Constitutional THistorical LinguisticsLinguistic TypologyLanguage StudiesLinguistics	2001	177
TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome Deborah A. McDermott, Michael Bressan, Jié He, Pediatric Research Genetic DisorderGeneticsGenetic EpidemiologyTuberous SclerosisHolt-oram Syndrome	2005	150
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects Fabiola Quintero‐Rivera, Yanli Fan, Fowzan S. Alkuraya, PLoS Genetics	2007	126
Multiplicity of Hepatic Excretory Mechanisms for Organic Anions Seymour Alpert, Michael Mosher, Alan Shanske, The Journal of General Physiology GastroenterologyPathologyDigestive TractHepatotoxicityBiliary Disorder	1969	118
Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature Emily S Doherty, Felicitas Lacbawan, Donald W. Hadley, American Journal of Medical Genetics Part A PathologyFgfr3‐related CraniosynostosisPro250arg MutationMendelian DisorderBone Morphogenic Protein	2007	115
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation Simon Edvardson, Avraham Shaag, Shamir Zenvirt, The American Journal of Human Genetics Mendelian DisorderJoubert Syndrome 2Genetic DisorderGeneticsInherited Metabolic Disease	2010	106
Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature Alan Shanske, Diana Garcia Caride, Lisa Menasse-Palmer, American Journal of Medical Genetics	1997	96
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene Magda El-Schahawi, Adolfo López de Munaín, Amélie Sarrazin, Neurology	1997	93
Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus Karen S. Mitchell, James O’Sullivan, Caterina Missero, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathogenesisPathology	2011	91

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