| Year |
Title |
Altmetric |
| 2021
|
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Scientific Data.
8.
2021
|
|
| 2021
|
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Journal of Allergy and Clinical Immunology.
148:585-598.
2021
|
|
| 2020
|
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
npj Genomic Medicine.
5.
2020
|
|
| 2020
|
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Cold Spring Harbor molecular case studies.
6.
2020
|
|
| 2020
|
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Biological Psychiatry.
87:100-112.
2020
|
|
| 2019
|
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Clinical Imaging.
58:108-113.
2019
|
|
| 2019
|
VarSight: Prioritizing clinically reported variants with binary classification algorithms.
BMC Bioinformatics.
20.
2019
|
|
| 2019
|
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
American Journal of Human Genetics.
105:854-868.
2019
|
|
| 2019
|
Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014)).
American Journal of Human Genetics.
105:672-674.
2019
|
|
| 2019
|
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
American Journal of Human Genetics.
105:413-424.
2019
|
|
| 2019
|
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review..
Journal of Pediatric Gastroenterology and Nutrition.
69:e13-e18.
2019
|
|
| 2019
|
Risk-factors Associated with Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.
Journal of Pediatric Gastroenterology and Nutrition.
69:E13-E18.
2019
|
|
| 2019
|
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
American Journal of Human Genetics.
104:1127-1138.
2019
|
|
| 2019
|
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
American Journal of Medical Genetics Part A.
179:966-977.
2019
|
|
| 2019
|
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Nature Medicine.
25:911-919.
2019
|
|
| 2019
|
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Molecular Genetics and Genomic Medicine.
7.
2019
|
|
| 2019
|
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Journal of Genetic Counseling.
28:213-228.
2019
|
|
| 2019
|
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
American Journal of Human Genetics.
104:422-438.
2019
|
|
| 2019
|
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
American Journal of Human Genetics.
104:164-178.
2019
|
|
| 2019
|
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genetics in Medicine.
21:161-172.
2019
|
|
| 2019
|
Genome sequencing for early-onset or atypical dementia: High diagnostic yield and frequent observation of multiple contributory alleles.
Cold Spring Harbor molecular case studies.
5.
2019
|
|
| 2018
|
Effect of genetic diagnosis on patients with previously undiagnosed disease.
New England Journal of Medicine.
379:2131-2139.
2018
|
|
| 2018
|
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
European Journal of Human Genetics.
26:1635-1647.
2018
|
|
| 2018
|
Erratum: IRF2BPL Is Associated with Neurological Phenotypes (The American Journal of Human Genetics (2018) 103(2) (245–260), (S0002929718302337) (10.1016/j.ajhg.2018.07.006)).
American Journal of Human Genetics.
103:456.
2018
|
|
| 2018
|
Characteristics of undiagnosed diseases network applicants: Implications for referring providers.
BMC Health Services Research.
18.
2018
|
|
| 2018
|
IRF2BPL Is Associated with Neurological Phenotypes.
American Journal of Human Genetics.
103:245-260.
2018
|
|
| 2018
|
Genome sequencing in the clinic: The past, present, and future of genomic medicine.
Physiological Genomics.
50:563-579.
2018
|
|
| 2018
|
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Human Molecular Genetics.
27:2454-2465.
2018
|
|
| 2018
|
Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genetics in Medicine.
20:464-469.
2018
|
|
| 2018
|
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
American Journal of Human Genetics.
102:494-504.
2018
|
|
| 2017
|
Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
95:9.24.1-9.24.28.
2017
|
|
| 2017
|
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
American Journal of Medical Genetics Part A.
173:2557-2561.
2017
|
|
| 2017
|
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
American Journal of Human Genetics.
100:843-853.
2017
|
|
| 2017
|
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic..
Journal of Pediatric Genetics.
6:61-76.
2017
|
|
| 2017
|
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings
2017
|
|
| 2017
|
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell.
169:6-12.
2017
|
|
| 2017
|
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Journal of Molecular Modeling.
23.
2017
|
|
| 2017
|
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
American Journal of Human Genetics.
100:128-137.
2017
|
|
| 2017
|
Model organisms facilitate rare disease diagnosis and therapeutic research
2017
|
|
| 2016
|
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
American Journal of Human Genetics.
99:991-999.
2016
|
|
| 2015
|
Data Sharing in the Undiagnosed Diseases Network.
Human Mutation.
36:985-988.
2015
|
|
| 2015
|
Cross-organism analysis using InterMine.
2015
|
|
| 2015
|
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Nature Biotechnology.
33:689-693.
2015
|
|
| 2015
|
The Rat Genome Database 2015: Genomic, phenotypic and environmental variations and disease.
Nucleic Acids Research.
43:D743-D750.
2015
|
|
| 2015
|
Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancer.
Oncotarget.
6:16411-16421.
2015
|
|
| 2015
|
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.
Human Molecular Genetics.
24:154-166.
2015
|
|
| 2014
|
In the Absence of Evidentiary Harm, Existing Societal Norms Regarding Parental Authority Should Prevail
2014
|
|
| 2014
|
The pathway ontology - updates and applications.
Journal of Biomedical Semantics.
5.
2014
|
|
| 2014
|
Disease pathways at the Rat Genome Database Pathway Portal: Genes in context-a network approach to understanding the molecular mechanisms of disease.
Human Genomics.
8.
2014
|
|
| 2013
|
Erratum: InterMOD: Integrated data and tools for the unification of model organism research (Scientific Reports (2013) 3 (1802) DOI: 10.1038/srep01802).
Scientific Reports.
3.
2013
|
|
| 2013
|
Analysis of disease-associated objects at the Rat Genome Database
2013
|
|
| 2013
|
IreB, a Ser/Thr kinase substrate, influences antimicrobial resistance in Enterococcus faecalis.
Antimicrobial Agents and Chemotherapy.
57:6179-6186.
2013
|
|
| 2013
|
Rat Strain Ontology: Structured controlled vocabulary designed to facilitate access to strain data at RGD.
Journal of Biomedical Semantics.
4.
2013
|
|
| 2013
|
The clinical measurement, measurement method and experimental condition ontologies: Expansion, improvements and new applications.
Journal of Biomedical Semantics.
4.
2013
|
|
| 2013
|
Rat genome database: A unique resource for rat, human, and mouse quantitative trait locus data.
Physiological Genomics.
45:809-816.
2013
|
|
| 2013
|
Genomics in clinical practice: Lessons from the front lines.
Science Translational Medicine.
5.
2013
|
|
| 2013
|
The Rat Genome Database 2013-data, tools and users.
Briefings in Bioinformatics.
14:520-526.
2013
|
|
| 2013
|
Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2013
|
|
| 2013
|
Copy number variation analysis in 98 individuals with PHACE syndrome.
Journal of Investigative Dermatology.
133:677-684.
2013
|
|
| 2013
|
InterMOD: Integrated data and tools for the unification of model organism research.
Scientific Reports.
3.
2013
|
|
| 2012
|
Genome interpretation and assembly-recent progress and next steps..
Nature Biotechnology.
30:1081-1083.
2012
|
|
| 2011
|
A timely arrival for genomic medicine.
Genetics in Medicine.
13:195-196.
2011
|
|
| 2011
|
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Genetics in Medicine.
13:255-262.
2011
|
|
| 2010
|
Sequencing of the rat genome and databases..
Methods in Molecular Biology.
597:33-53.
2010
|
|
| 2009
|
The Rat Genome Database 2009: Variation, ontologies and pathways.
Nucleic Acids Research.
37.
2009
|
|
| 2006
|
Using fragment cocktail crystallography to assist inhibitor design of Trypanosoma brucei nucleoside 2-deoxyribosyltransferase.
Journal of Medicinal Chemistry.
49:5939-5946.
2006
|
|
| 2006
|
Heterologous expression of proteins from Plasmodium falciparum: Results from 1000 genes.
Molecular and Biochemical Parasitology.
148:144-160.
2006
|
|
| 2006
|
Structure of Lmaj006129AAA, a hypothetical protein from Leishmania major.
Acta Crystallographica Section F: Structural Biology Communications.
62:175-179.
2006
|
|
| 2006
|
Taking U out, with two nucleases?.
BMC Bioinformatics.
7.
2006
|
|
| 2006
|
Crystal structure of glyceraldehyde-3-phosphate dehydrogenase from Plasmodium falciparum at 1.25 Å resolution reveals intriguing extra electron density in the active site
2006
|
|
| 2006
|
Structure of a ribulose 5-phosphate 3-epimerase from Plasmodium falciparum
2006
|
|
| 2005
|
Crystal structures and proposed structural/functional classification of three protozoan proteins from the isochorismatase superfamily.
Protein Science.
14:2887-2894.
2005
|
|
| 2005
|
Comparative analysis of the kinomes of three pathogenic trypanosomatids: Leishmania major, Trypanosoma brucei and Trypanosoma cruzi.
BMC Genomics.
6.
2005
|
|
| 2005
|
Comparative genomics of trypanosomatid parasitic protozoa.
Science.
309.
2005
|
|
| 2005
|
The genome of the kinetoplastid parasite, Leishmania major.
Science.
309:436-442.
2005
|
|
| 2005
|
The genome sequence of Trypanosoma cruzi, etiologic agent of chagas disease.
Science.
309.
2005
|
|
| 2005
|
Protozoan genomes: Gene identification and annotation.
International Journal for Parasitology.
35:495-512.
2005
|
|
| 2004
|
Erratum: Leishmania major chromosome 3 contains two long convergent polycistronic gene clusters separated by a tRNA gene (Nucleic Acids Research (2003) vol. 31 (4201-4210)).
Nucleic Acids Research.
32:6716.
2004
|
|
| 2004
|
Genomic organization and gene expression in a chromosomal region of Leishmania major.
Molecular and Biochemical Parasitology.
134:233-243.
2004
|
|
| 2003
|
Comparative analysis of editosome proteins in trypanosomatids.
Nucleic Acids Research.
31:6392-6408.
2003
|
|
| 2003
|
Leishmania major chromosome 3 contains two long convergent polycistronic gene clusters separated by a tRNA gene.
Nucleic Acids Research.
31:4201-4210.
2003
|
|
| 2003
|
Importing statistical measures into Artemis enhances gene identification in the Leishmania genome project.
BMC Bioinformatics.
4.
2003
|
|
| 2003
|
Evaluation of differential gene expression in Leishmania major Friedlin procyclics and metacyclics using DNA microarray analysis.
Molecular and Biochemical Parasitology.
129:103-114.
2003
|
|
| 2001
|
A role for selection in regulating the evolutionary emergence of disease-causing and other coding CAG repeats in humans and mice.
Molecular Biology and Evolution.
18:1014-1023.
2001
|
|
| 2001
|
The Leishmania genome project: New insights into gene organization and function.
Medical Microbiology and Immunology.
190:9-12.
2001
|
|
| 1996
|
Lymphocytes from orally tolerized mice display enhanced susceptibility to death by apoptosis when cultured in the absence of antigen in vitro.
American Journal of Pathology.
149:1971-1979.
1996
|
|
| 1996
|
Inactivation of Th1 and Th2 cells by feeding ovalbumin.
Annals of the New York Academy of Sciences.
778:122-132.
1996
|
|
| 1995
|
T helper 2 cells are subject to high dose oral tolerance and are not essential for its induction.
Journal of Immunology.
154:5649-5655.
1995
|
|
