Natalia Gomez-Ospina
#172,928
Most Influential Person Now
Colombian scientist
Natalia Gomez-Ospina's AcademicInfluence.com Rankings
Natalia Gomez-Ospinabiology Degrees
Biology
#15849
World Rank
#19917
Historical Rank
Biotechnology
#324
World Rank
#326
Historical Rank
Genetics
#1917
World Rank
#2039
Historical Rank

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Biology
Natalia Gomez-Ospina's Degrees
- PhD Genetics Stanford University
Why Is Natalia Gomez-Ospina Influential?
(Suggest an Edit or Addition)According to Wikipedia, Natalia Gomez-Ospina is a Colombian physician-scientist who studies genetic disorders and lysosomal storage disorders. She was born in Medellín, Colombia. She is an Assistant Professor of Pediatrics and of Pediatrics at Stanford University and works at Lucile Packard Children's Hospital. She is a member of Stanford Bio-X.
Natalia Gomez-Ospina's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Identification of preexisting adaptive immunity to Cas9 proteins in humans (2018) (589)
- A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human haematopoietic stem and progenitor cells (2018) (446)
- The C Terminus of the L-Type Voltage-Gated Calcium Channel CaV1.2 Encodes a Transcription Factor (2006) (378)
- Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis (2016) (212)
- Selective Trafficking of Non-Cell-Autonomous Proteins Mediated by NtNCAPP1 (2003) (169)
- Tomographic evidence for continuous turnover of Golgi cisternae in Pichia pastoris. (2003) (128)
- De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. (2016) (95)
- Gene Editing on Center Stage. (2018) (87)
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies (2015) (82)
- Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly (2017) (78)
- Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I (2018) (76)
- The spindle checkpoint of Saccharomyces cerevisiae responds to separable microtubule-dependent events (2000) (47)
- A Promoter in the Coding Region of the Calcium Channel Gene CACNA1C Generates the Transcription Factor CCAT (2013) (37)
- Molecular and clinical spectra of FBXL4 deficiency (2017) (36)
- Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. (2018) (33)
- State-dependent signaling by Cav1.2 regulates hair follicle stem cell function. (2013) (32)
- Genome Editing for Mucopolysaccharidoses (2020) (28)
- Yeast nuclear pore complex assembly defects determined by nuclear envelope reconstruction. (2000) (27)
- Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies (2016) (25)
- Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (2020) (21)
- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (2019) (20)
- Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing (2020) (20)
- CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells (2019) (18)
- Mutations in α-tubulin promote basal body maturation and flagellar assembly in the absence of δ-tubulin (2004) (18)
- Translocation affecting sonic hedgehog genes in basal-cell carcinoma. (2012) (13)
- A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) (10)
- Respiratory system involvement in Costello syndrome (2016) (9)
- Building a Professional Identity and an Academic Career Track in Translational Medicine (2019) (8)
- Point-of-care analysis of blood ammonia with a gas-phase sensor. (2020) (8)
- A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies (2017) (8)
- Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation (2022) (7)
- Mutations in alpha-tubulin promote basal body maturation and flagellar assembly in the absence of delta-tubulin. (2004) (6)
- Goldberg LH, Firoz BF, Weiss GJ, Blaydorn L, Jameson G, Von Hoff DD. Basal cell nevus syndrome: a brave new world. Arch Dermatol. 2010;146(1):17-19. (2017) (3)
- Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant (2022) (3)
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities (2021) (3)
- Arylsulfatase A Deficiency (1993) (2)
- Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine (2016) (2)
- Monocyte lineage-specific glucocerebrosidase expression in human hematopoietic stem cells: A universal genome editing strategy for Gaucher disease (2020) (1)
- Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms (2021) (1)
- Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (2019) (1)
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (2023) (1)
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation (2022) (1)
- Temporal and spatial regulation of calcium-dependent transcription (2007) (1)
- Autologous transplantation of human genome-edited hematopoietic stem cells for lysosomal storage disorders: the role of pre-transplant conditioning (2021) (0)
- Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a “safe harbor locus” (2020) (0)
- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (2019) (0)
- Engineering blood stem cells for autologous transplants for lysosomal diseases: Correction of mucopolysaccharidosis type I using genome-edited hematopoietic stem and progenitor cells (2018) (0)
- Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing (2020) (0)
- L-type Channel Regulation of Gene Expression (2008) (0)
- Identification of preexisting adaptive immunity to Cas9 proteins in humans (2019) (0)
- Author Correction: Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing (2020) (0)
- SELECTION OF GENOME EDITED HEMATOPOIETIC STEM CELLS PRIOR TO TRANSPLANTATION DECREASES THE ENGRAFTMENT POTENTIAL AND THERAPEUTIC EFFICACY (2021) (0)
- Busulfan conditioning allows high engraftment of human genome edited hematopoietic stem cells and improved central nervous system correction in a mucopolysaccharidosis type I mouse model (2021) (0)
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities (2021) (0)
- Top-Accessed Article: Basal Cell Nevus Syndrome (2011) (0)
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What Schools Are Affiliated With Natalia Gomez-Ospina?
Natalia Gomez-Ospina is affiliated with the following schools: