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Items: 1 to 50 of 344

1.

Distinct transcriptomic profiles of early-onset atopic dermatitis in blood and skin of pediatric patients.

Brunner PM, Israel A, Leonard A, Pavel AB, Kim HJ, Zhang N, Czarnowicki T, Patel K, Murphrey M, Ramsey K, Rangel S, Zebda R, Soundararajan V, Zheng X, Estrada YD, Xu H, Krueger JG, Paller AS, Guttman-Yassky E.

Ann Allergy Asthma Immunol. 2018 Dec 1. pii: S1081-1206(18)31496-0. doi: 10.1016/j.anai.2018.11.025. [Epub ahead of print]

PMID:
30508584
2.

Speed kills: Associations between methamphetamine use, HIV infection, tobacco use, and accelerated mortality among gay and bisexual men in Los Angeles, CA 20years after methamphetamine dependence treatment.

Colby Passaro R, Ramsey K, Segura ER, Lake JE, Reback CJ, Clark JL, Shoptaw S.

Drug Alcohol Depend. 2018 Aug 29. pii: S0376-8716(18)30421-6. doi: 10.1016/j.drugalcdep.2018.06.036. [Epub ahead of print]

PMID:
30429048
3.

How Distress Tolerance Mediates the Relationship Between Posttraumatic Stress Disorder and the Interpersonal Theory of Suicide Constructs in a U.S. Military Sample.

Martin RL, Bauer BW, Ramsey KL, Green BA, Capron DW, Anestis MD.

Suicide Life Threat Behav. 2018 Oct 23. doi: 10.1111/sltb.12523. [Epub ahead of print]

PMID:
30368865
4.

Requirement for NF-κB in maintenance of molecular and behavioral circadian rhythms in mice.

Hong HK, Maury E, Ramsey KM, Perelis M, Marcheva B, Omura C, Kobayashi Y, Guttridge DC, Barish GD, Bass J.

Genes Dev. 2018 Nov 1;32(21-22):1367-1379. doi: 10.1101/gad.319228.118. Epub 2018 Oct 26.

5.

Effect of intermittent inspiratory leaks on measurement of lung clearance index using nitrogen and sulfur hexafluoride.

Singer F, Ramsey K, Latzin P.

ERJ Open Res. 2018 Oct 19;4(4). pii: 00140-2018. doi: 10.1183/23120541.00140-2018. eCollection 2018 Oct.

6.

Ventilation and perfusion assessed by functional MRI in children with CF: reproducibility in comparison to lung function.

Nyilas S, Bauman G, Pusterla O, Ramsey K, Singer F, Stranzinger E, Yammine S, Casaulta C, Bieri O, Latzin P.

J Cyst Fibros. 2018 Oct 19. pii: S1569-1993(18)30854-3. doi: 10.1016/j.jcf.2018.10.003. [Epub ahead of print]

PMID:
30348613
7.

Feasibility study of combined dynamic imaging and lymphaticovenous anastomosis surgery for breast cancer-related lymphoedema.

Khan AA, Hernan I, Adamthwaite JA, Ramsey KWD.

Br J Surg. 2019 Jan;106(1):100-110. doi: 10.1002/bjs.10983. Epub 2018 Oct 8.

PMID:
30295931
8.

Tumor necrosis factor receptor superfamily members 1a and 1b contribute to exacerbation of atherosclerosis by Chlamydia pneumoniae in mice.

Zafiratos MT, Cottrell JT, Manam S, Henderson KK, Ramsey KH, Murthy AK.

Microbes Infect. 2018 Oct 4. pii: S1286-4579(18)30152-7. doi: 10.1016/j.micinf.2018.09.003. [Epub ahead of print]

PMID:
30292879
9.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002. No abstract available.

10.

Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry.

Nyilas S, Bauman G, Pusterla O, Sommer G, Singer F, Stranzinger E, Heyer C, Ramsey K, Schlegtendal A, Benzrath S, Casaulta C, Goutaki M, Kuehni CE, Bieri O, Koerner-Rettberg C, Latzin P.

Ann Am Thorac Soc. 2018 Dec;15(12):1434-1442. doi: 10.1513/AnnalsATS.201712-967OC.

11.

Eye of the beholder? Observation versus self-report in the measurement of disrespect and abuse during facility-based childbirth.

Freedman LP, Kujawski SA, Mbuyita S, Kuwawenaruwa A, Kruk ME, Ramsey K, Mbaruku G.

Reprod Health Matters. 2018;26(53):107-122. doi: 10.1080/09688080.2018.1502024. Epub 2018 Sep 10.

12.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study, Goldstein DB, Anyane-Yeboa K.

Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8.

PMID:
30194818
13.

Alternate gas washout indices: Assessment of ventilation inhomogeneity in mild to moderate pediatric cystic fibrosis lung disease.

Nyilas S, Bigler A, Yammine S, Kieninger E, Rochat I, Ramsey K, Casaulta C, Moeller A, Latzin P, Singer F.

Pediatr Pulmonol. 2018 Nov;53(11):1485-1491. doi: 10.1002/ppul.24149. Epub 2018 Aug 30.

PMID:
30168294
14.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.

Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712.

PMID:
30160831
15.

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB.

Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27.

PMID:
30151950
16.
17.

RNAs interact with BRD4 to promote enhanced chromatin engagement and transcription activation.

Rahnamoun H, Lee J, Sun Z, Lu H, Ramsey KM, Komives EA, Lauberth SM.

Nat Struct Mol Biol. 2018 Aug;25(8):687-697. doi: 10.1038/s41594-018-0102-0. Epub 2018 Aug 3.

PMID:
30076409
18.

Intranasal immunization with recombinant chlamydial protease-like activity factor attenuates atherosclerotic pathology following Chlamydia pneumoniae infection in mice.

Li W, Gudipaty P, Li C, Henderson KK, Ramsey KH, Murthy AK.

Immunol Cell Biol. 2019 Jan;97(1):85-91. doi: 10.1111/imcb.12192. Epub 2018 Aug 23.

PMID:
30051926
19.

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V.

Semin Pediatr Neurol. 2018 Jul;26:28-32. doi: 10.1016/j.spen.2017.08.008. Epub 2017 Aug 16.

PMID:
29961512
20.

Comparison of Immediate versus Delayed DIEP Flap Reconstruction in Women Who Require Postmastectomy Radiotherapy.

O'Connell RL, Di Micco R, Khabra K, Kirby AM, Harris PA, James SE, Power K, Ramsey KWD, Rusby JE.

Plast Reconstr Surg. 2018 Sep;142(3):594-605. doi: 10.1097/PRS.0000000000004676.

21.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study, Rahman N.

Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018.

22.

Elimination of Mycoplasma contamination in Chlamydia stocks as a result of in vivo passage or plaque isolation.

Sigar IM, Schripsema JH, Kelly KA, Murthy AK, Manam S, Ramsey KH.

BMC Res Notes. 2018 Jun 7;11(1):361. doi: 10.1186/s13104-018-3455-x.

23.

Randomized Outpatient Trial of Single- and Dual-Hormone Closed-Loop Systems That Adapt to Exercise Using Wearable Sensors.

Castle JR, El Youssef J, Wilson LM, Reddy R, Resalat N, Branigan D, Ramsey K, Leitschuh J, Rajhbeharrysingh U, Senf B, Sugerman SM, Gabo V, Jacobs PG.

Diabetes Care. 2018 Jul;41(7):1471-1477. doi: 10.2337/dc18-0228. Epub 2018 May 11.

PMID:
29752345
24.

Pervasive Targeting of Nascent Transcripts by Hfq.

Kambara TK, Ramsey KM, Dove SL.

Cell Rep. 2018 May 1;23(5):1543-1552. doi: 10.1016/j.celrep.2018.03.134.

25.

The clinical utility of lung clearance index in early cystic fibrosis lung disease is not impacted by the number of multiple-breath washout trials.

Foong RE, Harper AJ, Skoric B, King L, Turkovic L, Davis M, Clem CC, Rosenow T, Davis SD, Ranganathan S, Hall GL, Ramsey KA.

ERJ Open Res. 2018 Feb 16;4(1). pii: 00094-2017. doi: 10.1183/23120541.00094-2017. eCollection 2018 Jan.

26.

The Swiss Cystic Fibrosis Infant Lung Development (SCILD) cohort.

Korten I, Kieninger E, Yammine S, Regamey N, Nyilas S, Ramsey K, Casaulta C, Latzin P, For The Scild Study Group.

Swiss Med Wkly. 2018 Apr 26;148:w14618. doi: 10.4414/smw.2018.14618. eCollection 2018.

27.

Retinal dysfunction in a presymptomatic patient with Huntington's disease.

Knapp J, VanNasdale DA, Ramsey K, Racine J.

Doc Ophthalmol. 2018 Jun;136(3):213-221. doi: 10.1007/s10633-018-9632-3. Epub 2018 Apr 24.

PMID:
29691705
28.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R.

Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.

29.

The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood.

Czarnowicki T, He H, Leonard A, Malik K, Magidi S, Rangel S, Patel K, Ramsey K, Murphrey M, Song T, Estrada Y, Wen HC, Krueger JG, Guttman-Yassky E, Paller AS.

J Invest Dermatol. 2018 Oct;138(10):2157-2167. doi: 10.1016/j.jid.2018.03.1523. Epub 2018 Apr 14.

PMID:
29660300
30.

The Chlamydia muridarum plasmid revisited : new insights into growth kinetics.

Skilton RJ, Wang Y, O'Neill C, Filardo S, Marsh P, Bénard A, Thomson NR, Ramsey KH, Clarke IN.

Wellcome Open Res. 2018 Mar 8;3:25. doi: 10.12688/wellcomeopenres.13905.1. eCollection 2018.

31.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Erratum in: Am J Hum Genet. 2018 Oct 4;103(4):631.

32.

A day in the life of chromatin: how enhancer-promoter loops shape daily behavior.

Weidemann BJ, Ramsey KM, Bass J.

Genes Dev. 2018 Mar 1;32(5-6):321-323. doi: 10.1101/gad.314187.118. Review.

33.

Nasal Microbiota and Respiratory Tract Infections: The Role of Viral Detection.

Korten I, Ramsey K, Mika M, Usemann J, Frey U, Hilty M, Latzin P.

Am J Respir Crit Care Med. 2018 Mar 8. doi: 10.1164/rccm.201710-2020LE. [Epub ahead of print] No abstract available.

PMID:
29518345
34.

Tumor-associated myeloid cells promote tumorigenesis of non-tumorigenic human and murine prostatic epithelial cell lines.

Sass SN, Ramsey KD, Egan SM, Wang J, Cortes Gomez E, Gollnick SO.

Cancer Immunol Immunother. 2018 Jun;67(6):873-883. doi: 10.1007/s00262-018-2143-y. Epub 2018 Mar 3.

35.

Leaks during multiple-breath washout: characterisation and influence on outcomes.

Lenherr N, Ramsey KA, Jost K, Hornwall L, Singer F, Yammine S, Latzin P.

ERJ Open Res. 2018 Feb 23;4(1). pii: 00012-2017. doi: 10.1183/23120541.00012-2017. eCollection 2018 Jan.

36.

Preschool Multiple-Breath Washout Testing. An Official American Thoracic Society Technical Statement.

Robinson PD, Latzin P, Ramsey KA, Stanojevic S, Aurora P, Davis SD, Gappa M, Hall GL, Horsley A, Jensen R, Lum S, Milla C, Nielsen KG, Pittman JE, Rosenfeld M, Singer F, Subbarao P, Gustafsson PM, Ratjen F; ATS Assembly on Pediatrics.

Am J Respir Crit Care Med. 2018 Mar 1;197(5):e1-e19. doi: 10.1164/rccm.201801-0074ST.

PMID:
29493315
37.
38.

Limited Accuracy of Administrative Data for the Identification and Classification of Adult Congenital Heart Disease.

Khan A, Ramsey K, Ballard C, Armstrong E, Burchill LJ, Menashe V, Pantely G, Broberg CS.

J Am Heart Assoc. 2018 Jan 12;7(2). pii: e007378. doi: 10.1161/JAHA.117.007378.

39.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ.

Am J Hum Genet. 2018 Jan 4;102(1):196. doi: 10.1016/j.ajhg.2017.12.016. No abstract available.

40.

Disrespectful and abusive treatment during facility delivery in Tanzania: a facility and community survey.

Kruk ME, Kujawski S, Mbaruku G, Ramsey K, Moyo W, Freedman LP.

Health Policy Plan. 2018 Jan 1;33(1):e26-e33. doi: 10.1093/heapol/czu079.

PMID:
29304252
41.

Polyphosphate Kinase Antagonizes Virulence Gene Expression in Francisella tularensis.

Rohlfing AE, Ramsey KM, Dove SL.

J Bacteriol. 2018 Jan 10;200(3). pii: e00460-17. doi: 10.1128/JB.00460-17. Print 2018 Feb 1.

42.

Elucidating progression of early cystic fibrosis lung disease.

Ramsey K, Ratjen F, Latzin P.

Eur Respir J. 2017 Nov 9;50(5). pii: 1701916. doi: 10.1183/13993003.01916-2017. Print 2017 Nov. No abstract available.

PMID:
29122922
43.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J; DDD study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ.

Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014. Erratum in: Am J Hum Genet. 2018 Jan 4;102(1):196.

44.

Perceptions of Risk Stratification Workflows in Primary Care.

Ross RL, Sachdeva B, Wagner J, Ramsey K, Dorr DA.

Healthcare (Basel). 2017 Oct 21;5(4). pii: E78. doi: 10.3390/healthcare5040078.

45.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G.

Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184.

PMID:
29050392
46.

Methods used in prevalence studies of disrespect and abuse during facility based childbirth: lessons learned.

Sando D, Abuya T, Asefa A, Banks KP, Freedman LP, Kujawski S, Markovitz A, Ndwiga C, Ramsey K, Ratcliffe H, Ugwu EO, Warren CE, Jolivet RR.

Reprod Health. 2017 Oct 11;14(1):127. doi: 10.1186/s12978-017-0389-z. Review.

47.

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I.

Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2.

PMID:
28967789
48.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

49.

Comparison of EHR-based diagnosis documentation locations to a gold standard for risk stratification in patients with multiple chronic conditions.

Martin S, Wagner J, Lupulescu-Mann N, Ramsey K, Cohen A, Graven P, Weiskopf NG, Dorr DA.

Appl Clin Inform. 2017 Aug 2;8(3):794-809. doi: 10.4338/ACI-2016-12-RA-0210.

50.

Amyloid β concentrations and stable isotope labeling kinetics of human plasma specific to central nervous system amyloidosis.

Ovod V, Ramsey KN, Mawuenyega KG, Bollinger JG, Hicks T, Schneider T, Sullivan M, Paumier K, Holtzman DM, Morris JC, Benzinger T, Fagan AM, Patterson BW, Bateman RJ.

Alzheimers Dement. 2017 Aug;13(8):841-849. doi: 10.1016/j.jalz.2017.06.2266. Epub 2017 Jul 19. Erratum in: Alzheimers Dement. 2017 Oct;13(10 ):1185.

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