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Items: 1 to 50 of 1316

1.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J.

Brain. 2019 Dec 3. pii: awz374. doi: 10.1093/brain/awz374. [Epub ahead of print]

PMID:
31794024
2.

Prospective virome analyses in young children at increased genetic risk for type 1 diabetes.

Vehik K, Lynch KF, Wong MC, Tian X, Ross MC, Gibbs RA, Ajami NJ, Petrosino JF, Rewers M, Toppari J, Ziegler AG, She JX, Lernmark A, Akolkar B, Hagopian WA, Schatz DA, Krischer JP, Hyöty H, Lloyd RE; TEDDY Study Group.

Nat Med. 2019 Dec;25(12):1865-1872. doi: 10.1038/s41591-019-0667-0. Epub 2019 Dec 2.

PMID:
31792456
3.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL.

Hum Mutat. 2019 Nov 6. doi: 10.1002/humu.23946. [Epub ahead of print]

PMID:
31692161
4.

A Genocentric Approach to Discovery of Mendelian Disorders.

Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA.

Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24.

PMID:
31668702
5.

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X; Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA.

Mol Psychiatry. 2019 Oct 21. doi: 10.1038/s41380-019-0529-7. [Epub ahead of print]

PMID:
31636380
6.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R; Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P.

Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. Epub 2019 Oct 17.

PMID:
31630790
7.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M.

J Exp Med. 2019 Dec 2;216(12):2778-2799. doi: 10.1084/jem.20190147. Epub 2019 Oct 10.

PMID:
31601675
8.

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.

Robyns T, Willems R, Van Cleemput J, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Breckpot J, Devriendt K, Corveleyn A.

Acta Cardiol. 2019 Oct 4:1-6. doi: 10.1080/00015385.2019.1674490. [Epub ahead of print]

PMID:
31583969
9.

Association Between Features of Spontaneous Late Preterm Labor and Late Preterm Birth.

Glover AV, Battarbee AN, Gyamfi-Bannerman C, Boggess KA, Sandoval G, Blackwell SC, Tita ATN, Reddy UM, Jain L, Saade GR, Rouse DJ, Iams JD, Clark EAS, Chien EK, Peaceman AM, Gibbs RS, Swamy GK, Norton ME, Casey BM, Caritis SN, Tolosa JE, Sorokin Y, Manuck TA; Eunice Kennedy Shriver National Institute of Child Health Human Development Maternal-Fetal Medicine Units Network.

Am J Perinatol. 2019 Sep 17. doi: 10.1055/s-0039-1696641. [Epub ahead of print]

PMID:
31529452
10.

Risk Factors for Maternal Readmission with Sepsis.

Foeller ME, Sie L, Foeller TM, Girsen AI, Carmichael SL, Lyell DJ, Lee HC, Gibbs RS.

Am J Perinatol. 2019 Sep 17. doi: 10.1055/s-0039-1696721. [Epub ahead of print]

PMID:
31529451
11.

Evaluation of computational genotyping of structural variation for clinical diagnoses.

Chander V, Gibbs RA, Sedlazeck FJ.

Gigascience. 2019 Sep 1;8(9). pii: giz110. doi: 10.1093/gigascience/giz110.

12.

Effectiveness of rotavirus vaccines in an Australian population: A case-control study.

Fathima P, Snelling TL, Gibbs RA.

Vaccine. 2019 Sep 24;37(41):6048-6053. doi: 10.1016/j.vaccine.2019.08.047. Epub 2019 Aug 28.

PMID:
31473003
13.

Rate and causes of severe maternal morbidity at readmission: California births in 2008-2012.

Girsen AI, Sie L, Carmichael SL, Lee HC, Foeller ME, Druzin ML, Gibbs RS.

J Perinatol. 2019 Aug 28. doi: 10.1038/s41372-019-0481-z. [Epub ahead of print]

PMID:
31462721
14.

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A; SPARK Consortium, Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK.

NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019.

15.

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, Innes AM, Posey JE, Lupski JR.

Ann Clin Transl Neurol. 2019 Aug;6(8):1395-1406. doi: 10.1002/acn3.50824. Epub 2019 Jul 11.

16.

Correction to "Targeted Delivery of Doxorubicin by Folic Acid-Decorated Dual Functional Nanocarrier".

Lu J, Zhao W, Huang Y, Liu H, Marquez R, Gibbs RB, Li J, Venkataramanan R, Xu L, Li S, Li S.

Mol Pharm. 2019 Sep 3;16(9):4087. doi: 10.1021/acs.molpharmaceut.9b00818. Epub 2019 Aug 9. No abstract available.

PMID:
31397164
17.

Estradiol and selective estrogen receptor agonists differentially affect brain monoamines and amino acids levels in transitional and surgical menopausal rat models.

Long T, Yao JK, Li J, Kirshner ZZ, Nelson D, Dougherty GG, Gibbs RB.

Mol Cell Endocrinol. 2019 Oct 1;496:110533. doi: 10.1016/j.mce.2019.110533. Epub 2019 Aug 5.

PMID:
31394142
18.

Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol).

Bielinski SJ, St Sauver JL, Olson JE, Larson NB, Black JL, Scherer SE, Bernard ME, Boerwinkle E, Borah BJ, Caraballo PJ, Curry TB, Doddapaneni H, Formea CM, Freimuth RR, Gibbs RA, Giri J, Hathcock MA, Hu J, Jacobson DJ, Jones LA, Kalla S, Koep TH, Korchina V, Kovar CL, Lee S, Liu H, Matey ET, McGree ME, McAllister TM, Moyer AM, Muzny DM, Nicholson WT, Oyen LJ, Qin X, Raj R, Roger VL, Rohrer Vitek CR, Ross JL, Sharp RR, Takahashi PY, Venner E, Walker K, Wang L, Wang Q, Wright JA, Wu TJ, Wang L, Weinshilboum RM.

Int J Epidemiol. 2019 Aug 4. pii: dyz123. doi: 10.1093/ije/dyz123. [Epub ahead of print] No abstract available.

PMID:
31378813
19.

Severe Maternal Morbidity Among Stillbirth and Live Birth Deliveries in California.

Wall-Wieler E, Carmichael SL, Gibbs RS, Lyell DJ, Girsen AI, El-Sayed YY, Butwick AJ.

Obstet Gynecol. 2019 Aug;134(2):310-317. doi: 10.1097/AOG.0000000000003370.

PMID:
31306335
20.

Metachronous cellular angiolipomas of the breast.

Bachert SE, Gibbs R, Ginter PS, Stewart RL.

Breast J. 2019 Nov;25(6):1290-1291. doi: 10.1111/tbj.13462. Epub 2019 Jul 12. No abstract available.

PMID:
31297919
21.

Differential Dynamics of the Maternal Immune System in Healthy Pregnancy and Preeclampsia.

Han X, Ghaemi MS, Ando K, Peterson LS, Ganio EA, Tsai AS, Gaudilliere DK, Stelzer IA, Einhaus J, Bertrand B, Stanley N, Culos A, Tanada A, Hedou J, Tsai ES, Fallahzadeh R, Wong RJ, Judy AE, Winn VD, Druzin ML, Blumenfeld YJ, Hlatky MA, Quaintance CC, Gibbs RS, Carvalho B, Shaw GM, Stevenson DK, Angst MS, Aghaeepour N, Gaudilliere B.

Front Immunol. 2019 Jun 11;10:1305. doi: 10.3389/fimmu.2019.01305. eCollection 2019.

22.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.

PMID:
31256877
23.

Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.

Floyd JS, Bloch KM, Brody JA, Maroteau C, Siddiqui MK, Gregory R, Carr DF, Molokhia M, Liu X, Bis JC, Ahmed A, Liu X, Hallberg P, Yue QY, Magnusson PKE, Brisson D, Wiggins KL, Morrison AC, Khoury E, McKeigue P, Stricker BH, Lapeyre-Mestre M, Heckbert SR, Gallagher AM, Chinoy H, Gibbs RA, Bondon-Guitton E, Tracy R, Boerwinkle E, Gaudet D, Conforti A, van Staa T, Sitlani CM, Rice KM, Maitland-van der Zee AH, Wadelius M, Morris AP, Pirmohamed M, Palmer CAN, Psaty BM, Alfirevic A; PREDICTION-ADR Consortium and EUDRAGENE.

PLoS One. 2019 Jun 26;14(6):e0218115. doi: 10.1371/journal.pone.0218115. eCollection 2019.

24.

ARBoR: an identity and security solution for clinical reporting.

Venner E, Murugan M, Hale W, Jones JM, Lu S, Yi V, Gibbs RA.

J Am Med Inform Assoc. 2019 Nov 1;26(11):1370-1374. doi: 10.1093/jamia/ocz107.

PMID:
31241152
25.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR.

Am J Hum Genet. 2019 Jul 3;105(1):132-150. doi: 10.1016/j.ajhg.2019.05.015. Epub 2019 Jun 20.

PMID:
31230720
26.

Reanalysis of Clinical Exome Sequencing Data.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
27.

Burden of surgical site infection following cesarean section in sub-Saharan Africa: a narrative review.

Sway A, Nthumba P, Solomkin J, Tarchini G, Gibbs R, Ren Y, Wanyoro A.

Int J Womens Health. 2019 May 9;11:309-318. doi: 10.2147/IJWH.S182362. eCollection 2019. Review.

28.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W.

Genome Med. 2019 May 17;11(1):30. doi: 10.1186/s13073-019-0639-5.

29.

Sex-divided reference intervals for mean platelet volume, platelet large cell ratio and plateletcrit using the Sysmex XN-10 automated haematology analyzer in a UK population.

Ali U, Gibbs R, Knight G, Tsitsikas D.

Hematol Transfus Cell Ther. 2019 Apr - Jun;41(2):153-157. doi: 10.1016/j.htct.2018.09.005. Epub 2018 Dec 31.

30.

Alterations in sperm-inherited noncoding RNAs associate with late-term fetal growth restriction induced by preconception paternal alcohol use.

Bedi Y, Chang RC, Gibbs R, Clement TM, Golding MC.

Reprod Toxicol. 2019 Aug;87:11-20. doi: 10.1016/j.reprotox.2019.04.006. Epub 2019 Apr 30.

PMID:
31051257
31.

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248.

PMID:
31042289
32.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Stankiewicz P, Belmont JW, Shaw CA, Cheung SW, Hanchard NA, Sutton VR, Bader PI, Lupski JR.

Genome Med. 2019 Apr 23;11(1):25. doi: 10.1186/s13073-019-0633-y.

33.

Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome.

Hollister EB, Oezguen N, Chumpitazi BP, Luna RA, Weidler EM, Rubio-Gonzales M, Dahdouli M, Cope JL, Mistretta TA, Raza S, Metcalf GA, Muzny DM, Gibbs RA, Petrosino JF, Heitkemper M, Savidge TC, Shulman RJ, Versalovic J.

J Mol Diagn. 2019 May;21(3):449-461. doi: 10.1016/j.jmoldx.2019.01.006. Epub 2019 Apr 17.

34.

Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study.

Loomis SJ, Köttgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs R, Muzny D, Pankow J, Selvin E, Duggal P.

Sci Rep. 2019 Apr 11;9(1):5941. doi: 10.1038/s41598-019-42202-0.

35.

Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome.

Panfilio KA, Vargas Jentzsch IM, Benoit JB, Erezyilmaz D, Suzuki Y, Colella S, Robertson HM, Poelchau MF, Waterhouse RM, Ioannidis P, Weirauch MT, Hughes DST, Murali SC, Werren JH, Jacobs CGC, Duncan EJ, Armisén D, Vreede BMI, Baa-Puyoulet P, Berger CS, Chang CC, Chao H, Chen MM, Chen YT, Childers CP, Chipman AD, Cridge AG, Crumière AJJ, Dearden PK, Didion EM, Dinh H, Doddapaneni HV, Dolan A, Dugan S, Extavour CG, Febvay G, Friedrich M, Ginzburg N, Han Y, Heger P, Holmes CJ, Horn T, Hsiao YM, Jennings EC, Johnston JS, Jones TE, Jones JW, Khila A, Koelzer S, Kovacova V, Leask M, Lee SL, Lee CY, Lovegrove MR, Lu HL, Lu Y, Moore PJ, Munoz-Torres MC, Muzny DM, Palli SR, Parisot N, Pick L, Porter ML, Qu J, Refki PN, Richter R, Rivera-Pomar R, Rosendale AJ, Roth S, Sachs L, Santos ME, Seibert J, Sghaier E, Shukla JN, Stancliffe RJ, Tidswell O, Traverso L, van der Zee M, Viala S, Worley KC, Zdobnov EM, Gibbs RA, Richards S.

Genome Biol. 2019 Apr 2;20(1):64. doi: 10.1186/s13059-019-1660-0.

36.

Short-term and Midterm Results of Fenestrated Anaconda Endograft in Patients with Previous Endovascular Aneurysm Repair.

Zamir M, Jenkins M, Burfitt N, Bicknell C, Gibbs R, Hamady M.

J Vasc Interv Radiol. 2019 Apr;30(4):546-553. doi: 10.1016/j.jvir.2018.11.038.

PMID:
30910176
37.

Correction to: 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, Lloyd Holder J 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 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.

38.

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G.

Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.

PMID:
30901545
39.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.

Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA.

Genet Med. 2019 Sep;21(9):2135-2144. doi: 10.1038/s41436-019-0475-4. Epub 2019 Mar 20.

40.

Cost-effectiveness of Antenatal Corticosteroid Therapy vs No Therapy in Women at Risk of Late Preterm Delivery: A Secondary Analysis of a Randomized Clinical Trial.

Gyamfi-Bannerman C, Zupancic JAF, Sandoval G, Grobman WA, Blackwell SC, Tita ATN, Reddy UM, Jain L, Saade GR, Rouse DJ, Iams JD, Clark EAS, Thorp JM Jr, Chien EK, Peaceman AM, Gibbs RS, Swamy GK, Norton ME, Casey BM, Caritis SN, Tolosa JE, Sorokin Y, VanDorsten JP; Eunice Kennedy Shriver National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network.

JAMA Pediatr. 2019 May 1;173(5):462-468. doi: 10.1001/jamapediatrics.2019.0032. Erratum in: JAMA Pediatr. 2019 May 1;173(5):502.

41.

The comparative genomics and complex population history of Papio baboons.

Rogers J, Raveendran M, Harris RA, Mailund T, Leppälä K, Athanasiadis G, Schierup MH, Cheng J, Munch K, Walker JA, Konkel MK, Jordan V, Steely CJ, Beckstrom TO, Bergey C, Burrell A, Schrempf D, Noll A, Kothe M, Kopp GH, Liu Y, Murali S, Billis K, Martin FJ, Muffato M, Cox L, Else J, Disotell T, Muzny DM, Phillips-Conroy J, Aken B, Eichler EE, Marques-Bonet T, Kosiol C, Batzer MA, Hahn MW, Tung J, Zinner D, Roos C, Jolly CJ, Gibbs RA, Worley KC; Baboon Genome Analysis Consortium.

Sci Adv. 2019 Jan 30;5(1):eaau6947. doi: 10.1126/sciadv.aau6947. eCollection 2019 Jan.

42.

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, Kalra D, Walker K, English AC, Han Y, Chen K, Muzny DM, Ira G, Shaw CA, Gibbs RA, Hastings PJ, Lupski JR.

Cell. 2019 Mar 7;176(6):1310-1324.e10. doi: 10.1016/j.cell.2019.01.045. Epub 2019 Feb 28.

PMID:
30827684
43.

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.

44.

Maternal sepsis: new concepts, new practices.

Foeller ME, Gibbs RS.

Curr Opin Obstet Gynecol. 2019 Apr;31(2):90-96. doi: 10.1097/GCO.0000000000000523.

PMID:
30789841
45.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

46.

A Genome-Wide Analysis of Clinical Chorioamnionitis among Preterm Infants.

Spiegel AM, Li J, Oehlert JW, Mayo JA, Quaintance CC, Girsen AI, Druzin ML, El-Sayed YY, Shaw GM, Stevenson DK, Gibbs RS.

Am J Perinatol. 2019 Dec;36(14):1453-1458. doi: 10.1055/s-0038-1677503. Epub 2019 Jan 23.

PMID:
30674050
47.

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.

Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ; Childhood Liver Disease Research Network (ChiLDReN).

Hepatology. 2019 Sep;70(3):899-910. doi: 10.1002/hep.30515. Epub 2019 Mar 21.

PMID:
30664273
48.

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics.

Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Review.

PMID:
30655598
49.

Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects.

Petersen M, Armisén D, Gibbs RA, Hering L, Khila A, Mayer G, Richards S, Niehuis O, Misof B.

BMC Evol Biol. 2019 Jan 9;19(1):11. doi: 10.1186/s12862-018-1324-9.

50.

Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample.

Petty LE, Highland HM, Gamazon ER, Hu H, Karhade M, Chen HH, de Vries PS, Grove ML, Aguilar D, Bell GI, Huff CD, Hanis CL, Doddapaneni H, Munzy DM, Gibbs RA, Ma J, Parra EJ, Cruz M, Valladares-Salgado A, Arking DE, Barbeira A, Im HK, Morrison AC, Boerwinkle E, Below JE.

Hum Mol Genet. 2019 Apr 1;28(7):1212-1224. doi: 10.1093/hmg/ddy435.

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