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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18.


A repeated cross-sectional study of clinicians' use of psychotherapy techniques during 5 years of a system-wide effort to implement evidence-based practices in Philadelphia.

Beidas RS, Williams NJ, Becker-Haimes EM, Aarons GA, Barg FK, Evans AC, Jackson K, Jones D, Hadley T, Hoagwood K, Marcus SC, Neimark G, Rubin RM, Schoenwald SK, Adams DR, Walsh LM, Zentgraf K, Mandell DS.

Implement Sci. 2019 Jun 21;14(1):67. doi: 10.1186/s13012-019-0912-4.


Small-molecule allosteric activators of PDE4 long form cyclic AMP phosphodiesterases.

Omar F, Findlay JE, Carfray G, Allcock RW, Jiang Z, Moore C, Muir AL, Lannoy M, Fertig BA, Mai D, Day JP, Bolger G, Baillie GS, Schwiebert E, Klussmann E, Pyne NJ, Ong ACM, Bowers K, Adam JM, Adams DR, Houslay MD, Henderson DJP.

Proc Natl Acad Sci U S A. 2019 Jul 2;116(27):13320-13329. doi: 10.1073/pnas.1822113116. Epub 2019 Jun 17.


Therapist Financial Strain and Turnover: Interactions with System-Level Implementation of Evidence-Based Practices.

Adams DR, Williams NJ, Becker-Haimes EM, Skriner L, Shaffer L, DeWitt K, Neimark G, Jones DT, Beidas RS.

Adm Policy Ment Health. 2019 Jun 15. doi: 10.1007/s10488-019-00949-8. [Epub ahead of print]


Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV.

Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.


Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, Anderson GJ, Gahl WA, Malicdan MCV.

PLoS Genet. 2019 May 24;15(5):e1008143. doi: 10.1371/journal.pgen.1008143. eCollection 2019 May.


E-cadherin and p120ctn protein expression are lost in hidradenitis suppurativa lesions.

Nelson AM, Cong Z, Gettle SL, Longenecker AL, Kidacki M, Kirby JS, Adams DR, Stairs DB, Danby FW.

Exp Dermatol. 2019 Jul;28(7):867-871. doi: 10.1111/exd.13973.


Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.

Arbabi A, Adams DR, Fidler S, Brudno M.

JMIR Med Inform. 2019 May 10;7(2):e12596. doi: 10.2196/12596.


Topographical Mapping of Isoform-Selectivity Determinants for J-Channel-Binding Inhibitors of Sphingosine Kinases 1 and 2.

Adams DR, Tawati S, Berretta G, Rivas PL, Baiget J, Jiang Z, Alsfouk A, Mackay SP, Pyne NJ, Pyne S.

J Med Chem. 2019 Apr 11;62(7):3658-3676. doi: 10.1021/acs.jmedchem.9b00162. Epub 2019 Mar 27.


Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR.

Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7.


A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Gu F, Wu A, Gordon MG, Vlahos L, Macnamara S, Burke E, Malicdan MC, Adams DR, Tifft CJ, Toro C, Gahl WA, Markello TC.

Genet Med. 2019 Aug;21(8):1772-1780. doi: 10.1038/s41436-019-0434-0. Epub 2019 Jan 31.


One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.

Adams DR, Menezes S, Jauregui R, Valivullah ZM, Power B, Abraham M, Jeffrey BG, Garced A, Alur RP, Cunningham D, Wiggs E, Merideth MA, Chiang PW, Bernstein S, Ito S, Wakamatsu K, Jack RM, Introne WJ, Gahl WA, Brooks BP.

JCI Insight. 2019 Jan 24;4(2). pii: 124387. doi: 10.1172/jci.insight.124387. [Epub ahead of print]


Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

Adams DR, Eng CM.

N Engl J Med. 2019 Jan 10;380(2):201. doi: 10.1056/NEJMc1814955. No abstract available.


Community-academic partnerships in implementation research.

Pellecchia M, Mandell DS, Nuske HJ, Azad G, Benjamin Wolk C, Maddox BB, Reisinger EM, Skriner LC, Adams DR, Stewart R, Hadley T, Beidas RS.

J Community Psychol. 2018 Sep;46(7):941-952. doi: 10.1002/jcop.21981. Epub 2018 Apr 6.


Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, Wang C, Chepa-Lotrea X, Gallantine WB, Toro C, Adams DR, Tifft CJ, Gahl WA, Malicdan MCV.

Mol Genet Metab. 2019 Feb;126(2):188-195. doi: 10.1016/j.ymgme.2018.12.001. Epub 2018 Dec 3.


Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.


Social Work's Role in Collaborative Community-Academic Partnerships: How Our Past Informs Our Future.

Adams DR.

Soc Work. 2019 Jan 1;64(1):19-28. doi: 10.1093/sw/swy046.


Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.

Onojafe IF, Megan LH, Melch MG, Aderemi JO, Alur RP, Abu-Asab MS, Chan CC, Bernardini IM, Albert JS, Cogliati T, Adams DR, Brooks BP.

Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):4945-4952. doi: 10.1167/iovs.16-20293.


Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.

N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.


Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

Adams DR, Eng CM.

N Engl J Med. 2018 Oct 4;379(14):1353-1362. doi: 10.1056/NEJMra1711801. Review. No abstract available.


Variations in the Anatomic Morphology of the Lateral Distal Tibia: Surgical Implications for Distal Tibial Allograft Glenoid Reconstruction.

Parada SA, Shaw KA, Moreland C, Adams DR, Chabak MS, Provencher MT.

Am J Sports Med. 2018 Oct;46(12):2990-2995. doi: 10.1177/0363546518793880. Epub 2018 Aug 31.


Chediak-Higashi Syndrome.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ.

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.
2009 Mar 3 [updated 2018 Jul 5].


Sphingosine Kinases as Druggable Targets.

Pyne S, Adams DR, Pyne NJ.

Handb Exp Pharmacol. 2018 Feb 20. doi: 10.1007/164_2018_96. [Epub ahead of print]


A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. No abstract available.


The Potential of a Novel Class of EPAC-Selective Agonists to Combat Cardiovascular Inflammation.

Barker G, Parnell E, van Basten B, Buist H, Adams DR, Yarwood SJ.

J Cardiovasc Dev Dis. 2017 Dec 5;4(4). pii: E22. doi: 10.3390/jcdd4040022. Review.


A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Erratum in: Hum Mol Genet. 2018 Apr 1;27(7):1310.


Design and synthesis of a potent, highly selective, orally bioavailable, retinoic acid receptor alpha agonist.

Clarke E, Jarvis CI, Goncalves MB, Kalindjian SB, Adams DR, Brown JT, Shiers JJ, Taddei DMA, Ravier E, Barlow S, Miller I, Smith V, Borthwick AD, Corcoran JPT.

Bioorg Med Chem. 2018 Feb 15;26(4):798-814. doi: 10.1016/j.bmc.2017.12.015. Epub 2017 Dec 9.


Feasibility and acceptability of two incentive-based implementation strategies for mental health therapists implementing cognitive-behavioral therapy: a pilot study to inform a randomized controlled trial.

Beidas RS, Becker-Haimes EM, Adams DR, Skriner L, Stewart RE, Wolk CB, Buttenheim AM, Williams NJ, Inacker P, Richey E, Marcus SC.

Implement Sci. 2017 Dec 15;12(1):148. doi: 10.1186/s13012-017-0684-7.


Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV.

Clin Genet. 2018 Mar;93(3):712-718. doi: 10.1111/cge.13172. Epub 2018 Feb 5.


Olfactory Dysfunction Predicts Subsequent Dementia in Older U.S. Adults.

Adams DR, Kern DW, Wroblewski KE, McClintock MK, Dale W, Pinto JM.

J Am Geriatr Soc. 2018 Jan;66(1):140-144. doi: 10.1111/jgs.15048. Epub 2017 Sep 25.


Sphingosine 1-phosphate and cancer.

Pyne NJ, El Buri A, Adams DR, Pyne S.

Adv Biol Regul. 2018 May;68:97-106. doi: 10.1016/j.jbior.2017.09.006. Epub 2017 Sep 15. Review.


A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.

Wang C, Brancusi F, Valivullah ZM, Anderson MG, Cunningham D, Hedberg-Buenz A, Power B, Simeonov D, Gahl WA, Zein WM, Adams DR, Brooks B.

Ophthalmic Genet. 2018 Jan-Feb;39(1):41-45. doi: 10.1080/13816810.2017.1342134. Epub 2017 Jul 25.


FBXW7 regulates DISC1 stability via the ubiquitin-proteosome system.

Yalla K, Elliott C, Day JP, Findlay J, Barratt S, Hughes ZA, Wilson L, Whiteley E, Popiolek M, Li Y, Dunlop J, Killick R, Adams DR, Brandon NJ, Houslay MD, Hao B, Baillie GS.

Mol Psychiatry. 2018 May;23(5):1278-1286. doi: 10.1038/mp.2017.138. Epub 2017 Jul 20.


Low incidence of failure after proximal biceps tenodesis with unicortical suture button.

Cook JB, Sedory DM, Freidl MC, Adams DR.

J Orthop. 2017 Jun 27;14(3):384-389. doi: 10.1016/j.jor.2017.06.007. eCollection 2017 Sep.


Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A.

Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14.


Effects of Aerobic, Strength or Combined Exercise on Perceived Appetite and Appetite-Related Hormones in Inactive Middle-Aged Men.

Larsen PS, Donges CE, Guelfi KJ, Smith GC, Adams DR, Duffield R.

Int J Sport Nutr Exerc Metab. 2017 Oct;27(5):389-398. doi: 10.1123/ijsnem.2017-0144. Epub 2017 Jun 28.


Sphingosine Kinase 2 in Autoimmune/Inflammatory Disease and the Development of Sphingosine Kinase 2 Inhibitors.

Pyne NJ, Adams DR, Pyne S.

Trends Pharmacol Sci. 2017 Jul;38(7):581-591. doi: 10.1016/ Epub 2017 Jun 9. Review.


Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF.

Front Med (Lausanne). 2017 May 26;4:62. doi: 10.3389/fmed.2017.00062. eCollection 2017.


Non-participants in policy efforts to promote evidence-based practices in a large behavioral health system.

Stewart RE, Adams DR, Mandell DS, Nangia G, Shaffer L, Evans AC, Rubin R, Weaver S, Hadley TR, Beidas RS.

Implement Sci. 2017 May 25;12(1):70. doi: 10.1186/s13012-017-0598-4.


Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Gao J, D'Souza L, Wetherby K, Antolik C, Reeves M, Adams DR, Tumminia S, Wang X.

Cell Biosci. 2017 Apr 26;7:22. doi: 10.1186/s13578-017-0149-3. eCollection 2017.


Therapist and Organizational Factors Associated with Participation in Evidence-Based Practice Initiatives in a Large Urban Publicly-Funded Mental Health System.

Skriner LC, Wolk CB, Stewart RE, Adams DR, Rubin RM, Evans AC, Beidas RS.

J Behav Health Serv Res. 2018 Apr;45(2):174-186. doi: 10.1007/s11414-017-9552-0. No abstract available.


Identification of a Novel, Small Molecule Partial Agonist for the Cyclic AMP Sensor, EPAC1.

Parnell E, McElroy SP, Wiejak J, Baillie GL, Porter A, Adams DR, Rehmann H, Smith BO, Yarwood SJ.

Sci Rep. 2017 Mar 22;7(1):294. doi: 10.1038/s41598-017-00455-7.


Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC.

PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017.


Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622.


The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL.

Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.


Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA.

Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18.


A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV.

Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.


Factors Associated with Inaccurate Self-Reporting of Olfactory Dysfunction in Older US Adults.

Adams DR, Wroblewski KE, Kern DW, Kozloski MJ, Dale W, McClintock MK, Pinto JM.

Chem Senses. 2017 Mar 1;42(3):223-231. doi: 10.1093/chemse/bjw108.


Identification of a multifunctional docking site on the catalytic unit of phosphodiesterase-4 (PDE4) that is utilised by multiple interaction partners.

Houslay KF, Christian F, MacLeod R, Adams DR, Houslay MD, Baillie GS.

Biochem J. 2017 Feb 15;474(4):597-609. doi: 10.1042/BCJ20160849. Epub 2016 Dec 19.

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