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Items: 1 to 50 of 207

1.

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC.

Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.

PMID:
31104772
2.

FREM1 Autosomal Recessive Disorders.

Li C, Slavotinek A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Jul 9 [updated 2019 May 9].

3.

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish.

Krall M, Htun S, Slavotinek A.

PLoS One. 2019 Apr 24;14(4):e0212121. doi: 10.1371/journal.pone.0212121. eCollection 2019.

4.

Introducing in AJMG Part A: Genetic Syndromes in Adults.

Slavotinek AM, Muenke M.

Am J Med Genet A. 2019 Mar 26. doi: 10.1002/ajmg.a.61141. [Epub ahead of print] No abstract available.

PMID:
30912611
5.

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG.

J Med Genet. 2019 Mar 6. pii: jmedgenet-2018-105836. doi: 10.1136/jmedgenet-2018-105836. [Epub ahead of print]

PMID:
30842225
6.

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.

Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW; Care 4 Rare Canada Consortium, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM.

Eur J Hum Genet. 2019 Apr;27(4):582-593. doi: 10.1038/s41431-018-0298-9. Epub 2019 Jan 8.

PMID:
30622326
7.

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.

Abu-El-Haija A, Fineman J, Connolly AJ, Murali P, Judge LM, Slavotinek AM.

Am J Med Genet A. 2018 Dec;176(12):2877-2881. doi: 10.1002/ajmg.a.40641. Epub 2018 Oct 31.

PMID:
30380203
8.

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Slavotinek A.

Hum Genet. 2018 Oct 30. doi: 10.1007/s00439-018-1949-1. [Epub ahead of print] Review.

PMID:
30374660
9.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

10.

Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.

Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB; ClinGen Resource.

Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631.

PMID:
30311382
11.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium, Plon SE, Jarvik GP.

Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007.

12.

PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.

Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG.

Retin Cases Brief Rep. 2018 Aug 1. doi: 10.1097/ICB.0000000000000796. [Epub ahead of print]

PMID:
30074570
13.

Early inspirations from times gone by.

Slavotinek A, Solomon BD, Muenke M.

Am J Med Genet A. 2018 Sep;176(9):1797-1798. doi: 10.1002/ajmg.a.40474. Epub 2018 Jul 31. No abstract available.

PMID:
30063092
14.

Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited.

Douglas MP, Parker SL, Trosman JR, Slavotinek AM, Phillips KA.

Genet Med. 2019 Jan;21(1):152-160. doi: 10.1038/s41436-018-0043-3. Epub 2018 Jul 12.

15.

Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.

Krall M, Htun S, Anand D, Hart D, Lachke SA, Slavotinek AM.

Hum Genet. 2018 May;137(5):427-428. doi: 10.1007/s00439-018-1890-3.

PMID:
29752539
16.

A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.

Krall M, Htun S, Anand D, Hart D, Lachke SA, Slavotinek AM.

Hum Genet. 2018 Apr;137(4):315-328. doi: 10.1007/s00439-018-1884-1. Epub 2018 Apr 30. Erratum in: Hum Genet. 2018 May 11;:.

17.

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A.

Am J Med Genet A. 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637.

18.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.

PMID:
29436146
19.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G.

Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.

20.

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D, Agrawal SA, Slavotinek A, Lachke SA.

Hum Mutat. 2018 Apr;39(4):471-494. doi: 10.1002/humu.23395. Epub 2018 Jan 16. Review.

21.

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.

Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A.

Am J Ophthalmol Case Rep. 2017 Jun 21;7:102-106. doi: 10.1016/j.ajoc.2017.06.006. eCollection 2017 Sep.

22.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J.

Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.

23.

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM.

Am J Med Genet A. 2017 Nov;173(11):3075-3081. doi: 10.1002/ajmg.a.38382. Epub 2017 Sep 28.

PMID:
28960803
24.

A randomized controlled trial of levodopa in patients with Angelman syndrome.

Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA.

Am J Med Genet A. 2018 May;176(5):1099-1107. doi: 10.1002/ajmg.a.38457. Epub 2017 Sep 25.

25.

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N.

Am J Med Genet A. 2017 Nov;173(11):3070-3074. doi: 10.1002/ajmg.a.38354. Epub 2017 Sep 12.

PMID:
28898547
26.

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB.

PLoS One. 2017 Aug 21;12(8):e0183438. doi: 10.1371/journal.pone.0183438. eCollection 2017.

27.

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M.

Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4.

PMID:
28687524
28.

DNM1 encephalopathy: A new disease of vesicle fission.

von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group.

Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30.

29.

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ.

J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. Review.

PMID:
28663233
30.

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT.

Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.

31.

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.

Alhariri A, Hamilton K, Oza V, Cordoro K, Sobreira NL, Malloy M, Slavotinek A.

Am J Med Genet A. 2017 Aug;173(8):2275-2279. doi: 10.1002/ajmg.a.38314. Epub 2017 Jun 7.

PMID:
28590052
32.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD.

J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.

33.

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK.

Clin Genet. 2017 Aug;92(2):221-223. doi: 10.1111/cge.12956. Epub 2017 Jan 23.

34.

Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association.

Miranda P, Slavotinek A.

Clin Dysmorphol. 2017 Apr;26(2):132-133. doi: 10.1097/MCD.0000000000000167. No abstract available.

PMID:
28059850
35.

The Family of Crumbs Genes and Human Disease.

Slavotinek AM.

Mol Syndromol. 2016 Oct;7(5):274-281. Epub 2016 Aug 18. Review.

36.

Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.

Oates A, Brennan J, Slavotinek A, Alsadah A, Chow D, Lee MM.

Pediatr Transplant. 2016 Nov;20(7):1000-1003. doi: 10.1111/petr.12758. Epub 2016 Jul 8.

PMID:
27393152
37.

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A.

Ophthalmic Genet. 2017 Jul-Aug;38(4):371-375. doi: 10.1080/13816810.2016.1217550. Epub 2016 Sep 23.

38.

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A.

Am J Med Genet A. 2016 Oct;170(10):2711-8. doi: 10.1002/ajmg.a.37809. Epub 2016 Jun 20. Review.

PMID:
27320698
39.

Clinical care models in the era of next-generation sequencing.

Slavotinek A.

Mol Genet Genomic Med. 2016 May 12;4(3):239-42. doi: 10.1002/mgg3.225. eCollection 2016 May. No abstract available.

40.

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JK, Hogue J, Slavotinek A, Shetty A, Balasubramanian M.

Am J Med Genet A. 2016 Jul;170(7):1918-23. doi: 10.1002/ajmg.a.37680. Epub 2016 May 5.

41.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA.

Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. Epub 2016 Apr 28.

42.

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura.

Wyszynski DF, Carman WJ, Cantor AB, Graham JM Jr, Kunz LH, Slavotinek AM, Kirby RS, Seeger J.

J Pregnancy. 2016;2016:8297407. doi: 10.1155/2016/8297407. Epub 2016 Mar 22.

43.

Expansion of phenotype and genotypic data in CRB2-related syndrome.

Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM.

Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23. Review.

44.

Genetic analysis of consanguineous families presenting with congenital ocular defects.

Ullah E, Nadeem Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, Ahmed I, Ali G, Dutta AK, Danda S, Lao R, Ling-Fung Tang P, Kwok PY, Ansar M, Slavotinek A.

Exp Eye Res. 2016 May;146:163-71. doi: 10.1016/j.exer.2016.03.014. Epub 2016 Mar 16.

PMID:
26995144
45.

Pregnancy outcomes following exposure to onabotulinumtoxinA.

Brin MF, Kirby RS, Slavotinek A, Miller-Messana MA, Parker L, Yushmanova I, Yang H.

Pharmacoepidemiol Drug Saf. 2016 Feb;25(2):179-87. doi: 10.1002/pds.3920. Epub 2015 Dec 4.

46.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R.

Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.

47.

Recurrent duplications of 17q12 associated with variable phenotypes.

Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC.

Am J Med Genet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351. Epub 2015 Sep 30.

PMID:
26420380
48.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B.

Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.

49.

Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

Dimitri P, Habeb AM, Gurbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, Wales JK, Shetty A, Hawkes D, Hattersley AT, Ellard S, De Franco E.

J Clin Endocrinol Metab. 2015 Oct;100(10):E1362-9. doi: 10.1210/jc.2015-1827. Epub 2015 Aug 10. Erratum in: J Clin Endocrinol Metab. 2015 Dec;100(12):4685. Garbuz, F [corrected to Gurbuz, F].

50.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.

Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.

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