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Items: 31

1.

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.

Jimenez-Gomez A, Niu S, Andujar-Perez F, McQuade EA, Balasa A, Huss D, Coorg R, Quach M, Vinson S, Risen S, Holder JL Jr.

J Neurodev Disord. 2019 Aug 8;11(1):18. doi: 10.1186/s11689-019-9276-y.

2.

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.

Creson TK, Rojas C, Hwaun E, Vaissiere T, Kilinc M, Jimenez-Gomez A, Holder JL Jr, Tang J, Colgin LL, Miller CA, Rumbaugh G.

Elife. 2019 Apr 26;8. pii: e46752. doi: 10.7554/eLife.46752.

3.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

4.

SYNGAP1-Related Intellectual Disability.

Holder JL Jr, Hamdan FF, Michaud JL.

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.
2019 Feb 21.

5.

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.

Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL Jr, Zoghbi HY.

Mol Psychiatry. 2019 Jan 29. doi: 10.1038/s41380-018-0325-9. [Epub ahead of print]

6.

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.

Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL Jr, Zoghbi HY.

Mol Psychiatry. 2019 Jan 4. doi: 10.1038/s41380-018-0324-x. [Epub ahead of print]

7.

SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.

Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL Jr, Miller CA, Rumbaugh G.

Nat Neurosci. 2018 Dec;21(12):1-13. doi: 10.1038/s41593-018-0268-0. Epub 2018 Nov 21.

8.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.

Xing Y, Holder JL Jr, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L.

Arch Gynecol Obstet. 2018 Aug;298(2):289-295. doi: 10.1007/s00404-018-4798-1. Epub 2018 May 28.

PMID:
29808250
9.

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A.

Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018.

10.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

11.

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.

Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL Jr, Bi W.

Am J Med Genet A. 2018 Apr;176(4):973-979. doi: 10.1002/ajmg.a.38622. Epub 2018 Feb 9.

12.

Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.

Lyons-Warren AM, Cheung SW, Holder JL Jr.

Neurology. 2017 Oct 24;89(17):e205-e209. doi: 10.1212/WNL.0000000000004573. No abstract available.

13.

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

Holder JL Jr, Quach MM.

Epilepsia. 2016 Oct;57(10):1651-1659. doi: 10.1111/epi.13506. Epub 2016 Aug 24.

14.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.

Neurology. 2016 Jul 5;87(1):77-85. doi: 10.1212/WNL.0000000000002807. Epub 2016 Jun 8.

15.

Exonic deletion of SLC9A9 in autism with epilepsy.

Cardon M, Evankovich KD, Holder JL Jr.

Neurol Genet. 2016 Feb 25;2(2):e62. doi: 10.1212/NXG.0000000000000062. eCollection 2016 Apr.

16.

Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.

Holder JL Jr, Cheung SW.

Am J Med Genet A. 2015 Nov;167A(11):2737-41. doi: 10.1002/ajmg.a.37228. Epub 2015 Jul 2.

PMID:
26138022
17.

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

Holder JL Jr, Agadi S, Reese W, Rehder C, Quach MM.

JAMA Neurol. 2014 Jun;71(6):782-4. doi: 10.1001/jamaneurol.2013.5083.

PMID:
24756183
18.

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL Jr, Carlin ME, Bader PI, Perras HM, Allanson JE, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW.

Eur J Hum Genet. 2015 Jan;23(1):54-60. doi: 10.1038/ejhg.2014.51. Epub 2014 Apr 16. Review.

19.

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.

Han K, Holder JL Jr, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY.

Nature. 2013 Nov 7;503(7474):72-7. doi: 10.1038/nature12630. Epub 2013 Oct 23.

20.

A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.

Holder JL Jr, Lotze TE, Bacino C, Cheung SW.

Am J Med Genet A. 2012 Aug;158A(8):1962-6. doi: 10.1002/ajmg.a.35289. Epub 2012 Apr 9.

PMID:
22488736
21.

Zonisamide in the treatment of epilepsy.

Holder JL Jr, Wilfong AA.

Expert Opin Pharmacother. 2011 Nov;12(16):2573-81. doi: 10.1517/14656566.2011.622268. Epub 2011 Oct 4. Review.

PMID:
21967409
22.

Patient education strategies in dermatology: part 2: methods.

Zirwas MJ, Holder JL.

J Clin Aesthet Dermatol. 2009 Dec;2(12):28-34.

23.

Patient education strategies in dermatology: part 1: benefits and challenges.

Zirwas MJ, Holder JL.

J Clin Aesthet Dermatol. 2009 Dec;2(12):24-7.

24.

The transcriptional repressor DEC2 regulates sleep length in mammals.

He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL Jr, Rossner MJ, Nishino S, Fu YH.

Science. 2009 Aug 14;325(5942):866-70. doi: 10.1126/science.1174443.

25.

Effect of pH, urea, peptide length, and neighboring amino acids on alanine alpha-proton random coil chemical shifts.

Carlisle EA, Holder JL, Maranda AM, de Alwis AR, Selkie EL, McKay SL.

Biopolymers. 2007 Jan;85(1):72-80.

PMID:
17054116
26.

Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons.

Kublaoui BM, Holder JL Jr, Gemelli T, Zinn AR.

Mol Endocrinol. 2006 Oct;20(10):2483-92. Epub 2006 May 25.

PMID:
16728530
27.

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

Kublaoui BM, Holder JL Jr, Tolson KP, Gemelli T, Zinn AR.

Endocrinology. 2006 Oct;147(10):4542-9. Epub 2006 May 18.

PMID:
16709610
28.

Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice.

Holder JL Jr, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn AR.

Am J Physiol Endocrinol Metab. 2004 Jul;287(1):E105-13. Epub 2004 Feb 24.

29.

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.

Holder JL Jr, Butte NF, Zinn AR.

Hum Mol Genet. 2000 Jan 1;9(1):101-8.

PMID:
10587584
30.

Reduced survival of apolipoprotein E4 homozygotes in Down's syndrome?

Holder JL, Habbak RA, Pearlson GD, Aylward EA, Pulsifer M, Warren AC.

Neuroreport. 1996 Nov 4;7(15-17):2455-6.

PMID:
8981402
31.

Low dose dextran 40 in reconstructive hip surgery patients.

Roberts TS, Nelson CL, Barnes CL, Boone DW, Ferris EJ, Holder JL.

Orthopedics. 1989 Jun;12(6):797-801.

PMID:
2472629

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