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Items: 1 to 20 of 54

1.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

PMID:
29276005
2.

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE.

Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9.

3.

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Yu AC, Zambrano RM, Cristian I, Price S, Bernhard B, Zucker M, Venkateswaran S, McGowan-Jordan J, Armour CM.

Am J Med Genet A. 2017 Jun;173(6):1593-1600. doi: 10.1002/ajmg.a.38241. Epub 2017 Apr 25.

PMID:
28440577
4.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study, Lord CJ, Vissers LE, de Vries BB.

Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23.

5.

Prevalence and architecture of de novo mutations in developmental disorders.

Deciphering Developmental Disorders Study.

Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.

PMID:
28135719
6.

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.

Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N.

Clin Endocrinol (Oxf). 2017 Mar;86(3):410-418. doi: 10.1111/cen.13149. Epub 2016 Aug 4.

7.

Dehydrated citrus pulp alters feedlot performance of crossbred heifers during the receiving period and modulates serum metabolite concentrations before and after an endotoxin challenge.

Cribbs JT, Bernhard BC, Young TR, Jennings MA, Burdick Sanchez NC, Carroll JA, Callaway TR, Schmidt TB, Johnson BJ, Rathmann RJ.

J Anim Sci. 2015 Dec;93(12):5791-800. doi: 10.2527/jas.2015-9571.

8.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study, Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L.

Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16.

9.

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL.

Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.

10.

The effects of technology use in feedlot production systems on feedlot performance and carcass characteristics.

Maxwell CL, Bernhard BC, O'Neill CF, Wilson BK, Hixon CG, Haviland CL, Grimes AN, Calvo-Lorenzo MS, VanOverbeke DL, Mafi GG, Richards CJ, Step DL, Holland BP, Krehbiel CR.

J Anim Sci. 2015 Mar;93(3):1340-9. doi: 10.2527/jas.2014-8127.

11.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration, Rahman N.

Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13.

12.

Large-scale discovery of novel genetic causes of developmental disorders.

Deciphering Developmental Disorders Study.

Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24.

PMID:
25533962
13.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study.

Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.

14.

Effect of anabolic implants on adrenal cortisol synthesis in feedlot beef cattle implanted early or late in the finishing phase.

Gifford CA, Branham KA, Ellison JO, Gómez BI, Lemley CO, Hart CG, Krehbiel CR, Bernhard BC, Maxwell CL, Goad CL, Hallford DM, Hernandez Gifford JA.

Physiol Behav. 2015 Jan;138:118-23. doi: 10.1016/j.physbeh.2014.10.025. Epub 2014 Oct 31.

PMID:
25447333
15.

Effects of beef production system on animal performance and carcass characteristics.

Maxwell CL, Krehbiel CR, Wilson BK, Johnson BT, Bernhard BC, O'Neill CF, VanOverbeke DL, Mafi GG, Step DL, Richards CJ.

J Anim Sci. 2014 Dec;92(12):5727-38. doi: 10.2527/jas.2014-7639. Epub 2014 Nov 17.

16.

Differential Gambling Motivations and Recreational Activity Preferences Among Casino Gamblers.

Lee CK, Bernhard BJ, Kim J, Fong T, Lee TK.

J Gambl Stud. 2015 Dec;31(4):1833-47. doi: 10.1007/s10899-014-9513-y.

PMID:
25398482
17.

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR.

Hum Mutat. 2014 Nov;35(11):1295-300. doi: 10.1002/humu.22683.

PMID:
25196122
18.

Three's a crowd: 10q triplication secondary to a paternal 10q duplication.

Gardham A, Sullivan C, Bernhard B.

Clin Dysmorphol. 2014 Oct;23(4):143-6. doi: 10.1097/MCD.0000000000000048. No abstract available.

PMID:
25036987
19.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

20.

Examining the structural relationships among gambling motivation, passion, and consequences of internet sports betting.

Lee CK, Chung N, Bernhard BJ.

J Gambl Stud. 2014 Dec;30(4):845-58. doi: 10.1007/s10899-013-9400-y.

PMID:
23824837

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