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The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature medicine, 2020-09, Vol.26 (9), p.1392-1397

2020

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Gene‐specific features enhance interpretation of mutational impact on acid α‐glucosidase enzyme activity

Human mutation, 2019-09, Vol.40 (9), p.1507-1518

Adhikari, Aashish N.

2019

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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

Frontiers in pediatrics, 2021-07, Vol.9, p.663752-663752

2021

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ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

Genome medicine, 2023-07, Vol.15 (1), p.51-19, Article 51

2023

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VIPdb, a genetic Variant Impact Predictor Database

Human mutation, 2019-09, Vol.40 (9), p.1202-1214

2019

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Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

American journal of human genetics, 2021-04, Vol.108 (4), p.535-548

2021

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Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

The New England journal of medicine, 2016-12, Vol.375 (22), p.2165-2176

2016

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De novo prediction of protein folding pathways and structure using the principle of sequential stabilization

Proceedings of the National Academy of Sciences - PNAS, 2012-10, Vol.109 (43), p.17442-17447

2012

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Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

Human mutation, 2019-09, Vol.40 (9), p.1280-1291

2019

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Deep Learning-Based Hardness Prediction of Novel Refractory High-Entropy Alloys with Experimental Validation

Crystals (Basel), 2021-01, Vol.11 (1), p.46

2021

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Simplified protein models: predicting folding pathways and structure using amino acid sequences

Physical review letters, 2013-07, Vol.111 (2), p.028103-028103, Article 028103

2013

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Even with nonnative interactions, the updated folding transition states of the homologs Proteins G & L are extensive and similar

Proceedings of the National Academy of Sciences - PNAS, 2015-07, Vol.112 (27), p.8302-8307

2015

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Heterogeneous dynamics and dynamic heterogeneities at the glass transition probed with single molecule spectroscopy

The Journal of chemical physics, 2007-09, Vol.127 (11), p.114508-114508-9

2007

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Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

International journal of neonatal screening, 2020-06, Vol.6 (2), p.41

2020

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Aromatic claw: A new fold with high aromatic content that evades structural prediction

Protein science, 2017-02, Vol.26 (2), p.208-217

2017

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Modeling large regions in proteins: Applications to loops, termini, and folding

Protein science, 2012-01, Vol.21 (1), p.107-121

2012

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Simplified protein models can rival all atom simulations in predicting folding pathways and structure

Physical review letters, 2013-07, Vol.111 (2), p.028103-028103

2013

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The Folding Transition State of Protein L Is Extensive with Nonnative Interactions (and Not Small and Polarized)

Journal of molecular biology, 2012-07, Vol.420 (3), p.220-234

2012

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Aromatic claw: A new fold with high aromatic content that evades structural prediction: Aromatic Claw

Protein science, 2016-11, Vol.26 (2)

2016

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novo prediction of protein folding pathways and structure using the principle of sequential stabilization

Proceedings of the National Academy of Sciences - PNAS, 2012, Vol.109 (43), p.17442-17447

2012

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Lessons from the CAGI‐4 Hopkins clinical panel challenge

Human mutation, 2017-09, Vol.38 (9), p.1155-1168

2017

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Probing Conformational Changes of the Na+/K+ ATPase upon Ouabain Binding by using a Spectroscopic Approach

Biophysical journal, 2013-01, Vol.104 (2), p.300a-300a

2013

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The folding transition state of Protein L is extensive with non-native interactions (and not small and polarized)

Journal of molecular biology, 2012-04, Vol.420 (3), p.220-234

2012

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Nepali Image Captioning

2019 Artificial Intelligence for Transforming Business and Society (AITB), 2019, Vol.1, p.1-6

2019

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The role of exome sequencing in newborn screening for inborn errors of metabolism

Gene‐specific features enhance interpretation of mutational impact on acid α‐glucosidase enzyme activity

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

VIPdb, a genetic Variant Impact Predictor Database

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

De novo prediction of protein folding pathways and structure using the principle of sequential stabilization

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

Deep Learning-Based Hardness Prediction of Novel Refractory High-Entropy Alloys with Experimental Validation

Simplified protein models: predicting folding pathways and structure using amino acid sequences

Even with nonnative interactions, the updated folding transition states of the homologs Proteins G & L are extensive and similar

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Heterogeneous dynamics and dynamic heterogeneities at the glass transition probed with single molecule spectroscopy

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

Aromatic claw: A new fold with high aromatic content that evades structural prediction

Modeling large regions in proteins: Applications to loops, termini, and folding

Simplified protein models can rival all atom simulations in predicting folding pathways and structure

The Folding Transition State of Protein L Is Extensive with Nonnative Interactions (and Not Small and Polarized)

Aromatic claw: A new fold with high aromatic content that evades structural prediction: Aromatic Claw

novo prediction of protein folding pathways and structure using the principle of sequential stabilization

Lessons from the CAGI‐4 Hopkins clinical panel challenge

Probing Conformational Changes of the Na+/K+ ATPase upon Ouabain Binding by using a Spectroscopic Approach

The folding transition state of Protein L is extensive with non-native interactions (and not small and polarized)

Nepali Image Captioning

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