Pankaj Agrawal
Affiliations: | 2001-2012 | Pediatrics | Harvard Medical School, Boston, MA, United States |
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"Pankaj Agrawal"
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| Lemire G, Sanchis-Juan A, Russell K, et al. (2024) Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics |
| Wojcik MH, Lemire G, Zaki MS, et al. (2023) Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. Medrxiv : the Preprint Server For Health Sciences |
| Hills S, Li Q, Madden JA, et al. (2023) High number of candidate gene variants are identified as disease-causing in a period of 4 years. American Journal of Medical Genetics. Part A |
| Lemire G, Sanchis-Juan A, Russell K, et al. (2023) Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Medrxiv : the Preprint Server For Health Sciences |
| Green RC, Shah N, Genetti CA, et al. (2023) Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. American Journal of Human Genetics |
| Li Q, Lin J, Luo S, et al. (2023) Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex. Biorxiv : the Preprint Server For Biology |
| Hojlo MA, Ghebrelul M, Genetti CA, et al. (2023) Children with Early-Onset Psychosis Have Increased Burden of Rare Variants. Genes. 14 |
| Barros JS, Sanchez SI, Cabral K, et al. (2023) X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone. 116763 |
| Li Q, Agrawal R, Schmitz-Abe K, et al. (2023) Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. European Journal of Human Genetics : Ejhg |
| Estrella E, Rockowitz S, Thorne M, et al. (2022) Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced Genetics (Hoboken, N.J.). 4: 2200013 |