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Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Am J Med Genet A. 2019 Jul;179(7):1276-1286. doi: 10.1002/ajmg.a.61173. Epub 2019 May 23.
Am J Med Genet A. 2019.
PMID: 31124279
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA.
Murdock DR, et al. Among authors: schatz ks.
Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003608. doi: 10.1101/mcs.a003608. Print 2019 Jun.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 30622101
Free PMC article.
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB.
Chowdhury F, et al.
Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6.
Genet Med. 2021.
PMID: 33824499
Free article.
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The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH.
Thorpe RK, et al. Among authors: schatz ks.
Hum Genet. 2022 Apr;141(3-4):853-863. doi: 10.1007/s00439-021-02340-w. Epub 2021 Aug 23.
Hum Genet. 2022.
PMID: 34424407
Free PMC article.
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Plexiform neurofibroma of the liver, with malignant transformation to MPNST, in a pediatric patient without neurofibromatosis type 1.
Ioannou M, Zhang L, Schatz K, Rodriguez FJ, Ahlawat S, Gocke CD, Rhee DS, Staedtke V, Pratilas CA.
Ioannou M, et al.
Neurooncol Adv. 2023 Sep 24;5(1):vdad125. doi: 10.1093/noajnl/vdad125. eCollection 2023 Jan-Dec.
Neurooncol Adv. 2023.
PMID: 37841697
Free PMC article.
No abstract available.
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V…
See abstract for full author list ➔
McKnight D, et al.
JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651.
JAMA Neurol. 2022.
PMID: 36315135
Free PMC article.
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