Concepedia
Statistics
Publications
36
Citations
1.5K
H-Index
25
Active since
2018
Affiliations
Baylor College of Medicine(Current)
Boston Children's Hospital
Harvard University
Vanderbilt University Medical Center
National Institutes of Health
Elly Brokamp is an author at Baylor College of Medicine specializing in life sciences, genetics, and medical genetics.
Publications per year
2018–2023
A multidisciplinary approach to the clinical management of Prader–Willi syndrome
Jessica Duis, Pieter Joost van Wattum, Ann Scheimann et al. · Molecular Genetics & Genomic Medicine · 2019 · 108 citations · Full text
Life Sciences, Genetics, Consultation-liaison Psychiatry +12
Limitations of exome sequencing in detecting rare and undiagnosed diseases
Kendall J. Burdick, Joy D. Cogan, Lynette Rives et al. · American Journal of Medical Genetics Part A · 2020 · 105 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text
Life Sciences, Biochemistry, Cell Biology +12
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Brett V. Johnson, Raman Kumar, Sabrina Oishi et al. · Biological Psychiatry · 2019 · 71 citations · Full text
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