|
| 35064218 | Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. | Nat Genet | 2022 |
| 36229431 | INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex. | Nat Commun | 2022 |
| 35064218 | Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. | Nat Genet | 2022 |
| 35074874 | Molecular electronics sensors on a scalable semiconductor chip: A platform for single-molecule measurement of binding kinetics and enzyme activity. | Proc Natl Acad Sci U S A | 2022 |
| 36229431 | INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex. | Nat Commun | 2022 |
| 35074874 | Molecular electronics sensors on a scalable semiconductor chip: A platform for single-molecule measurement of binding kinetics and enzyme activity. | Proc Natl Acad Sci U S A | 2022 |
| 29562948 | Emergency Department and Inpatient Health Care Services Utilization by the Elderly Population: Hurricane Sandy in The State of New Jersey. | Disaster Med Public Health Prep | 2018 |
| 29562948 | Emergency Department and Inpatient Health Care Services Utilization by the Elderly Population: Hurricane Sandy in The State of New Jersey. | Disaster Med Public Health Prep | 2018 |
| 29768410 | Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. | PLoS Genet | 2018 |
| 29768410 | Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. | PLoS Genet | 2018 |
| 27132877 | Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients. | J Clin Lab Anal | 2016 |
| 27132877 | Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients. | J Clin Lab Anal | 2016 |
| 25050600 | Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions. | J Invest Dermatol | 2015 |
| 25050600 | Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions. | J Invest Dermatol | 2015 |
| 24667040 | An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. | Genome Biol | 2014 |
| 24667040 | An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. | Genome Biol | 2014 |
| 23690616 | Simple computation of reaction-diffusion processes on point clouds. | Proc Natl Acad Sci U S A | 2013 |
| 23690616 | Simple computation of reaction-diffusion processes on point clouds. | Proc Natl Acad Sci U S A | 2013 |
| 22246503 | CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | Nat Genet | 2012 |
| 22926851 | Familial cortical myoclonus with a mutation in NOL3. | Ann Neurol | 2012 |
| 22581230 | Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. | Nat Genet | 2012 |
| 23189382 | Bioinformatics. Introduction. | Yale J Biol Med | 2012 |
| 23208921 | Progress in ion torrent semiconductor chip based sequencing. | Electrophoresis | 2012 |
| 22246503 | CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | Nat Genet | 2012 |
| 23208921 | Progress in ion torrent semiconductor chip based sequencing. | Electrophoresis | 2012 |
| 23189382 | Bioinformatics. Introduction. | Yale J Biol Med | 2012 |
| 22926851 | Familial cortical myoclonus with a mutation in NOL3. | Ann Neurol | 2012 |
| 22581230 | Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. | Nat Genet | 2012 |
| 21358634 | Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. | Nat Genet | 2011 |
| 21358634 | Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. | Nat Genet | 2011 |
| 19455149 | High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. | Mol Psychiatry | 2010 |
| 19455149 | High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. | Mol Psychiatry | 2010 |
| 21129727 | Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. | Am J Hum Genet | 2010 |
| 21210981 | SeqWare Query Engine: storing and searching sequence data in the cloud. | BMC Bioinformatics | 2010 |
| 20576157 | Local alignment of generalized k-base encoded DNA sequence. | BMC Bioinformatics | 2010 |
| 20126413 | U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. | PLoS Genet | 2010 |
| 20561764 | Clinical utility of elevated tumor markers in patients with disseminated appendiceal malignancies treated by cytoreductive surgery and HIPEC. | Eur J Surg Oncol | 2010 |
| 20089971 | Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. | N Engl J Med | 2010 |
| 21129727 | Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. | Am J Hum Genet | 2010 |
| 21210981 | SeqWare Query Engine: storing and searching sequence data in the cloud. | BMC Bioinformatics | 2010 |
| 20576157 | Local alignment of generalized k-base encoded DNA sequence. | BMC Bioinformatics | 2010 |
| 20561764 | Clinical utility of elevated tumor markers in patients with disseminated appendiceal malignancies treated by cytoreductive surgery and HIPEC. | Eur J Surg Oncol | 2010 |
| 20126413 | U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. | PLoS Genet | 2010 |
| 20089971 | Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. | N Engl J Med | 2010 |
| 19110214 | A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. | Am J Hum Genet | 2009 |
| 19648921 | Mutations in PYCR1 cause cutis laxa with progeroid features. | Nat Genet | 2009 |
| 19361615 | Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. | Am J Hum Genet | 2009 |
| 19339714 | Effect of early versus deferred antiretroviral therapy for HIV on survival. | N Engl J Med | 2009 |
| 19717034 | Complete cytoreduction offers longterm survival in patients with peritoneal carcinomatosis from appendiceal tumors of unfavorable histology. | J Am Coll Surg | 2009 |
| 19110214 | A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. | Am J Hum Genet | 2009 |