Brendan C. Lanpher - Concepedia

Author

Brendan C. Lanpher

Also Known As

B Lanpher, B. Lanpher, B.C. Lanpher, Brandon M Wilk, Brendan C Lanpher, Brendan C. Lanpher, Brendan H. Lee, Brendan Lanpher, Byron Lam, Christina Lam

142

Publications

4.3K

Citations

H-Index

Concepts

All Affiliations

Mayo Clinic in Florida Mayo Clinic Baylor College of Medicine Boston Children's Hospital Harvard University

About

Brendan C. Lanpher is an author at Mayo Clinic in Florida specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	24	1.8K
2	Social Sciences	5	5	539
3	Engineering	2	2	95
4	Health Sciences	1	1	93
5	Natural Sciences	1	1	242

Brendan C. Lanpher

Publications

3.1K

Citations

H-Index

Page 1

	Year	Citations
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German, Journal of Medical Genetics	2009	265
A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells. Katharine H. Dixon, Brendan C. Lanpher, Jason Chiu, Journal of Biological Chemistry Metabolic RemodelingCancer BiologyCellular PhysiologyFolate AntagonistTumor Biology	1994	242
Kabuki syndrome: international consensus diagnostic criteria Margaret P Adam, Siddharth Banka, Hans T. Björnsson, Journal of Medical Genetics	2018	229
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes Marwan Shinawi, Christian P. Schaaf, Samarth Bhatt, Nature Genetics Neurodevelopmental DisordersDevelopmental BiologyBrain DevelopmentMedicineGenetics	2009	180
Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Brain	2017	158
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans Hsiang‐Chih Lu, Qiumin Tan, Maxime W.C. Rousseaux, Nature Genetics Knockout MouseSynaptic PlasticityNeurobiology Of DiseaseMolecular NeuroscienceSynaptic Signaling	2017	153
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, The American Journal of Human Genetics Epileptic EncephalopathyNeurobiology Of DiseasePathogenesisExperimental NeuropathologyPathology	2018	145
Urea Cycle Disorders Overview Nicholas Ah Mew, Kara Simpson, Andrea Gropman, Urea Cycle DisorderUrea CycleInfertilityUrologyRenal Disease	2015	108
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy Devesh C. Pant, Imen Dorboz, Agatha Schlüter, Journal of Clinical Investigation Myelin DevelopmentMyelin SheathNeurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological Disease	2019	101
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer Kezhi Yan, Justine Rousseau, Keren Machol, Science Advances	2020	98

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