Deepali N. Shinde, Ph.D.
Affiliations: | 2006 | University of Southern California, Los Angeles, CA, United States |
Area:
Molecular BiologyGoogle:
"Deepali Shinde"Mean distance: 35622
Parents
Sign in to add mentor| Norman Arnheim | grad student | 2006 | USC | |
| (Taq DNA polymerase slippage mutations at (CA/GT)(n) and (A/T)(n) microsatellites during PCR.) | ||||
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Publications
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| Drivas TG, Li D, Nair D, et al. (2020) A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European Journal of Human Genetics : Ejhg |
| Snijders Blok L, Kleefstra T, Venselaar H, et al. (2019) De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. American Journal of Human Genetics |
| Helbig I, Lopez-Hernandez T, Shor O, et al. (2019) A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. American Journal of Human Genetics |
| Kim JH, Park EY, Chitayat D, et al. (2019) SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney International |
| Smith ED, Blanco K, Sajan SA, et al. (2019) A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Siekierska A, Stamberger H, Deconinck T, et al. (2019) Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nature Communications. 10: 708 |
| Platzer K, Sticht H, Edwards SL, et al. (2018) De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. American Journal of Human Genetics |
| Scheuerle AE, Sweed NT, Timmons CF, et al. (2018) An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. American Journal of Medical Genetics. Part A |
| Peng Y, Shinde DN, Alexander Valencia C, et al. (2018) Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Human Molecular Genetics |
| Ng BG, Xu G, Chandy N, et al. (2018) Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. American Journal of Human Genetics. 102: 188-195 |