Elizabeth Roeder - Concepedia

Author

Elizabeth Roeder

Also Known As

E Roeder, E. R. Roeder, E.R Roeder, E.R. Roeder, E. Roeder, Elizabeth R Roeder, Elizabeth R. Roeder, Elizabeth Roeder, Kimberly Margaret Nugent, Liu, Pengfei

Publications

6.2K

Citations

H-Index

116

Concepts

All Affiliations

Baylor College of Medicine The University of Texas Health Science Center at San Antonio Texas Children's Hospital Children's Hospital Central California Baylor Genetics

About

Elizabeth Roeder is an author at Baylor College of Medicine specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	25	31	3.9K
2	Public Health	5	5	430
3	Natural Sciences	2	2	236
4	Social Sciences	2	2	132
5	Anatomy	1	1	30

Elizabeth Roeder

Publications

5.9K

Citations

H-Index

Page 1

	Year	Citations
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, Nature Genetics Developmental AnomalyDevelopmental BiologyBrain DevelopmentRecurrent Reciprocal 1Q21.1Genetics	2008	627
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Marwan Shinawi, P. Liu, Sung Hae L. Kang, Journal of Medical Genetics	2009	593
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired Stephen Brown, Dorothy Warburton, Lucia Brown, Nature Genetics BiologyDevelopmental BiologyDevelopmental GeneticsGeneticsMedicine	1998	521
Loss-of-function mutations in the human <i>GLI2</i> gene are associated with pituitary anomalies and holoprosencephaly-like features Erich Roessler, Yangzhu Du, José L. Mullor, Proceedings of the National Academy of Sciences GeneticsMolecular GeneticsDisease Gene IdentificationPituitary AnomaliesMendelian Disorder	2003	344
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes Zhishuo Ou, Jonathan S. Berg, Hagith Yonath, Genetics in Medicine	2008	220
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Daniela A. Braun, Jia Rao, Géraldine Mollet, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsNephrotic Syndrome	2017	212
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Genetics in Medicine Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic Epidemiology	2018	211
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Human Genetics Pulmonary CirculationVascular MalformationPathologyPulmonary Alveolar ProteinosisPulmonary Physiology	2016	155
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
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, European Journal of Human Genetics Genome InstabilityGeneticsPathologyChromosome BiologyChromosomal Rearrangement	2009	145

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