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Clinical application of whole-exome sequencing across clinical indications.
Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Retterer K, et al. Among authors: neidich j. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633542 Free article.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Damseh N, et al. Among authors: neidich j. J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3. J Med Genet. 2015. PMID: 26041762
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Gallant NM, et al. Among authors: neidich j. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. Mol Genet Metab. 2012. PMID: 22424739
First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.
Meynard G, Mansi L, Lebahar P, Villanueva C, Klajer E, Calcagno F, Vivalta A, Chaix M, Collonge-Rame MA, Populaire C, Algros MP, Colpart P, Neidich J, Pivot X, Curtit E. Meynard G, et al. Among authors: neidich j. Oncol Rep. 2017 Mar;37(3):1573-1578. doi: 10.3892/or.2017.5422. Epub 2017 Feb 3. Oncol Rep. 2017. PMID: 28184945
Clinical whole-genome sequencing in cancer diagnosis.
Hou YC, Neidich JA, Duncavage EJ, Spencer DH, Schroeder MC. Hou YC, et al. Among authors: neidich ja. Hum Mutat. 2022 Nov;43(11):1519-1530. doi: 10.1002/humu.24381. Epub 2022 Apr 26. Hum Mutat. 2022. PMID: 35471774 Review.
Maternal glutaric acidemia, type I identified by newborn screening.
Crombez EA, Cederbaum SD, Spector E, Chan E, Salazar D, Neidich J, Goodman S. Crombez EA, et al. Among authors: neidich j. Mol Genet Metab. 2008 May;94(1):132-4. doi: 10.1016/j.ymgme.2008.01.005. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18304851 Free PMC article.
55 results