Retinitis pigmentosa.
Hamel C.
Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40.
Wilson Disease.
Immergluck J, Grant LM, Anilkumar AC.
2025 Apr 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine.
N Engl J Med. 2020 Oct 29;383(18):1746-1756. doi: 10.1056/NEJMoa2023643. Epub 2020 Oct 7.
TANGO2 Deficiency.
Miyake CY, Burrage L, Glinton K, Houck K, Hoyos-Martinez A, Graham B, Yang Y, Rawls-Castillo B, Scaglia F, Soler-Alfonso C, Lalani SR.
2018 Jan 25 [updated 2023 Mar 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM.
Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28.
[Fabry disease].
Stephan F, Haber R.
Ann Dermatol Venereol. 2017 Feb;144(2):137-146. doi: 10.1016/j.annder.2016.10.010. Epub 2017 Jan 16.
Cystic Fibrosis Sinusitis.
Le C, McCrary HC, Chang E.
Adv Otorhinolaryngol. 2016;79:29-37. doi: 10.1159/000444959. Epub 2016 Jul 28.
Primary Congenital Glaucoma.
Abu-Amero KK, Edward DP.
2004 Sep 30 [updated 2017 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Peters Anomaly.
Jat NS, Tripathy K.
2023 Aug 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Neu Laxova syndrome.
Dwivedi T, Gosavi M.
Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17.
