Concepedia
Statistics
Publications
32
Citations
1.4K
H-Index
23
Active since
2005
Affiliations
Baylor College of Medicine(Current)
Boston Children's Hospital
Columbia University
Harvard University
Stanford University
Liliana Fernández is an author at Baylor College of Medicine specializing in life sciences, genetics, and molecular genetics.
Publications per year
2005–2023
Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria
Samin A. Sajan, Liliana Fernández, Sahar Esmaeeli Nieh et al. · PLoS Genetics · 2013 · 110 citations · Full text
Life Sciences, Genetics, Neuroscience +17
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Monika Oláhová, Wan Hee Yoon, Kyle Thompson et al. · The American Journal of Human Genetics · 2018 · 107 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Vandana Shashi, Kelly Schoch, Rebecca C. Spillmann et al. · Genetics in Medicine · 2018 · 81 citations · Full text
Medicine, Bioinformatics, Biomedical Informatics +6
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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