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Items: 21

1.

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Repnikova EA, Lyalin DA, McDonald K, Astbury C, Hansen-Kiss E, Cooley LD, Pfau R, Herman GE, Pyatt RE, Hickey SE.

Eur J Med Genet. 2019 Mar 2. pii: S1769-7212(18)30788-2. doi: 10.1016/j.ejmg.2019.02.008. [Epub ahead of print]

PMID:
30836150
2.

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.

3.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.

Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.

4.

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee.

Genet Med. 2018 Oct;20(10):1105-1113. doi: 10.1038/s41436-018-0040-6. Epub 2018 Jun 18. Review.

5.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.

Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun.

6.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Santoro SL, Hashimoto S, McKinney A, Mihalic Mosher T, Pyatt R, Reshmi SC, Astbury C, Hickey SE.

Cytogenet Genome Res. 2017;152(2):105-109. doi: 10.1159/000478921. Epub 2017 Jul 27.

PMID:
28746920
7.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. No abstract available.

8.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

9.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

10.

17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.

Henry RK, Astbury C, Stratakis CA, Hickey SE.

Eur J Med Genet. 2016 Oct;59(10):512-6. doi: 10.1016/j.ejmg.2016.09.006. Epub 2016 Sep 12.

11.

Epidemiology of bleeding symptoms and hypermobile Ehlers-Danlos syndrome in paediatrics.

Hickey SE, Varga EA, Kerlin B.

Haemophilia. 2016 Sep;22(5):e490-3. doi: 10.1111/hae.13063. Epub 2016 Aug 26. No abstract available.

12.

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC.

Hum Mol Genet. 2016 Apr 1;25(7):1255-70. doi: 10.1093/hmg/ddw006. Epub 2016 Jan 11.

13.

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Walters-Sen LC, Thrush DL, Hickey SE, Hashimoto S, Reshmi S, Gastier-Foster JM, Pyatt RE, Astbury C.

Eur J Med Genet. 2014 Jul;57(7):315-8. doi: 10.1016/j.ejmg.2014.04.018. Epub 2014 May 10.

PMID:
24821304
14.

Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy.

Bowden SA, Cozzi C, Hickey SE, Thrush DL, Astbury C, Nuthakki S.

Case Rep Endocrinol. 2013;2013:524647. doi: 10.1155/2013/524647. Epub 2013 Dec 19.

15.

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW.

Am J Med Genet A. 2013 Sep;161A(9):2294-9. doi: 10.1002/ajmg.a.36034. Epub 2013 Jul 29.

PMID:
23897859
16.

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Hickey SE, Biswas S, Thrush DL, Pyatt RE, Gastier-Foster JM, Astbury C, Atkin J.

Eur J Med Genet. 2013 Sep;56(9):521-5. doi: 10.1016/j.ejmg.2013.07.004. Epub 2013 Jul 26.

PMID:
23895773
17.

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J.

Eur J Med Genet. 2013 Sep;56(9):510-4. doi: 10.1016/j.ejmg.2013.05.010. Epub 2013 Jul 13.

PMID:
23856564
18.

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.

Hickey SE, Curry CJ, Toriello HV.

Genet Med. 2013 Feb;15(2):153-6. doi: 10.1038/gim.2012.165. Epub 2013 Jan 3.

PMID:
23288205
19.

Malingering by proxy: a form of pediatric condition falsification.

Stutts JT, Hickey SE, Kasdan ML.

J Dev Behav Pediatr. 2003 Aug;24(4):276-8.

PMID:
12915800
20.

Recurrent abdominal pain in children: past, present, and future.

Stutts JT, Hickey SE.

J Ky Med Assoc. 2002 Oct;100(10):435-40.

PMID:
12395745
21.

Reflex sympathetic dystrophy: misdiagnosis in patients with dysfunctional postures of the upper extremity.

Stutts JT, Kasdan ML, Hickey SE, Bruner A.

J Hand Surg Am. 2000 Nov;25(6):1152-6.

PMID:
11119678

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