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The New England Journal of Medicine
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September 27, 2023
An Alternate Explanation
Thomas Cassini, Carolina Montano, Bin Guan
Neurology. Genetics
|
August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral Calcifications
Changrui Xiao, Thomas Cassini, Daniel Benavides, et al.
Pediatric Radiology
|
June 7, 2025
Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy
Asha Sarma, Lindsey A Knake, Marta Hernanz-Schulman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2023
A test of automated use of electronic health records to aid in diagnosis of genetic disease
Thomas Cassini, Lisa Bastarache, Chenjie Zeng, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
June 29, 2026
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, et al.
Journal of the American Medical Informatics Association : JAMIA
|
January 24, 2024
Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank
Chenjie Zeng, David J Schlueter, Tam C Tran, et al.
JIMD Reports
|
December 26, 2024
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
Thomas Cassini, Sarah Silverstein, Molly Behan, et al.
International Journal of Dermatology
|
January 7, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN Authors
Athira Sivadas, Katelyn Moore, Kimberly Ezell, et al.
Clinical Pharmacology and Therapeutics
|
July 25, 2024
Racial and Ethnic Disparities in Antihypertensive Medication Prescribing Patterns and Effectiveness
Slavina B Goleva, Ariel Williams, David J Schlueter, et al.
Molecular Genetics and Metabolism
|
April 11, 2025
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency
Sarah Silverstein, Thomas Cassini, Jiayu Fu, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
The New England Journal of Medicine
|
September 27, 2023
An Alternate Explanation
Thomas Cassini, Carolina Montano, Bin Guan
Neurology. Genetics
|
August 7, 2023
Genomic Diagnoses for Ectopic Intracerebral Calcifications
Changrui Xiao, Thomas Cassini, Daniel Benavides, et al.
Pediatric Radiology
|
June 7, 2025
Duplicated pituitary gland plus syndrome with thoracoabdominal findings suggesting abnormal axial mesodermal signaling and ciliopathy
Asha Sarma, Lindsey A Knake, Marta Hernanz-Schulman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2023
A test of automated use of electronic health records to aid in diagnosis of genetic disease
Thomas Cassini, Lisa Bastarache, Chenjie Zeng, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
June 29, 2026
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, et al.
Journal of the American Medical Informatics Association : JAMIA
|
January 24, 2024
Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank
Chenjie Zeng, David J Schlueter, Tam C Tran, et al.
JIMD Reports
|
December 26, 2024
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
Thomas Cassini, Sarah Silverstein, Molly Behan, et al.
International Journal of Dermatology
|
January 7, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN Authors
Athira Sivadas, Katelyn Moore, Kimberly Ezell, et al.
Clinical Pharmacology and Therapeutics
|
July 25, 2024
Racial and Ethnic Disparities in Antihypertensive Medication Prescribing Patterns and Effectiveness
Slavina B Goleva, Ariel Williams, David J Schlueter, et al.
Molecular Genetics and Metabolism
|
April 11, 2025
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency
Sarah Silverstein, Thomas Cassini, Jiayu Fu, et al.
Page
of 2