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Items: 1 to 20 of 161

1.

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.

Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC; NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Ribeiro-Bicudo LA, Muenke M.

Hum Mutat. 2018 Jul 10. doi: 10.1002/humu.23590. [Epub ahead of print]

PMID:
29992659
2.

Dosage compensation and DNA methylation landscape of the X chromosome in mouse liver.

Duncan CG, Grimm SA, Morgan DL, Bushel PR, Bennett BD; NISC Comparative Sequencing Program, Roberts JD, Tyson FL, Merrick BA, Wade PA.

Sci Rep. 2018 Jul 4;8(1):10138. doi: 10.1038/s41598-018-28356-3.

3.

Whole-Exome Sequencing to Identify Rare Variants and Gene Networks that Increase Susceptibility to Scleroderma in African Americans.

Gourh P, Remmers EF, Boyden SE, Alexander T, Morgan ND, Shah AA, Mayes MD, Doumatey A, Bentley AR, Shriner D, Domsic RT, Medsger TA Jr, Steen VD, Ramos PS, Silver RM, Korman B, Varga J, Schiopu E, Khanna D, Hsu V, Gordon JK, Saketkoo LA, Gladue H, Kron B, Criswell LA, Derk CT, Bridges SL Jr, Shanmugam VK, Kolstad KD, Chung L, Jan R, Bernstein EJ, Goldberg A, Trojanowski M, Kafaja S, Maksimowicz-McKinnon KM, Mullikin JC; NISC Comparative Sequencing Program, Adeyemo A, Rotimi C, Boin F, Kastner DL, Wigley FM.

Arthritis Rheumatol. 2018 May 6. doi: 10.1002/art.40541. [Epub ahead of print]

PMID:
29732714
4.

A direct link between MITF, innate immunity, and hair graying.

Harris ML, Fufa TD, Palmer JW, Joshi SS, Larson DM, Incao A, Gildea DE, Trivedi NS, Lee AN, Day CP, Michael HT, Hornyak TJ, Merlino G; NISC Comparative Sequencing Program, Pavan WJ.

PLoS Biol. 2018 May 3;16(5):e2003648. doi: 10.1371/journal.pbio.2003648. eCollection 2018 May.

5.

A Neutralizing Antibody Recognizing Primarily N-Linked Glycan Targets the Silent Face of the HIV Envelope.

Zhou T, Zheng A, Baxa U, Chuang GY, Georgiev IS, Kong R, O'Dell S, Shahzad-Ul-Hussan S, Shen CH, Tsybovsky Y, Bailer RT, Gift SK, Louder MK, McKee K, Rawi R, Stevenson CH, Stewart-Jones GBE, Taft JD, Waltari E, Yang Y, Zhang B, Shivatare SS, Shivatare VS, Lee CD, Wu CY; NISC Comparative Sequencing Program, Mullikin JC, Bewley CA, Burton DR, Polonis VR, Shapiro L, Wong CH, Mascola JR, Kwong PD, Wu X.

Immunity. 2018 Mar 20;48(3):500-513.e6. doi: 10.1016/j.immuni.2018.02.013. Epub 2018 Mar 13.

PMID:
29548671
6.

Genomic Analysis of Hospital Plumbing Reveals Diverse Reservoir of Bacterial Plasmids Conferring Carbapenem Resistance.

Weingarten RA, Johnson RC, Conlan S, Ramsburg AM, Dekker JP, Lau AF, Khil P, Odom RT, Deming C, Park M, Thomas PJ; NISC Comparative Sequencing Program, Henderson DK, Palmore TN, Segre JA, Frank KM.

MBio. 2018 Feb 6;9(1). pii: e02011-17. doi: 10.1128/mBio.02011-17.

7.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program.

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816.

PMID:
29112083
8.

Loci associated with skin pigmentation identified in African populations.

Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program, Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA.

Science. 2017 Nov 17;358(6365). pii: eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12.

9.

Staphylococcus aureus and Staphylococcus epidermidis strain diversity underlying pediatric atopic dermatitis.

Byrd AL, Deming C, Cassidy SKB, Harrison OJ, Ng WI, Conlan S; NISC Comparative Sequencing Program, Belkaid Y, Segre JA, Kong HH.

Sci Transl Med. 2017 Jul 5;9(397). pii: eaal4651. doi: 10.1126/scitranslmed.aal4651.

10.

Whole-Genome Sequencing Overrules a Suspected Case of Carbapenem-Resistant Enterobacter cloacae Transmission.

Chen M, Conlan S, Lau AF, Dekker JP, Deming C; NISC Comparative Sequencing Program, Henderson DK, Frank KM, Palmore TN, Segre JA.

J Clin Microbiol. 2017 Sep;55(9):2868-2870. doi: 10.1128/JCM.00915-17. Epub 2017 Jun 28. No abstract available.

11.

Gene-Specific Substitution Profiles Describe the Types and Frequencies of Amino Acid Changes during Antibody Somatic Hypermutation.

Sheng Z, Schramm CA, Kong R; NISC Comparative Sequencing Program, Mullikin JC, Mascola JR, Kwong PD, Shapiro L.

Front Immunol. 2017 May 10;8:537. doi: 10.3389/fimmu.2017.00537. eCollection 2017.

12.

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Vilboux T, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 May 12. doi: 10.1002/ajmg.a.38272. [Epub ahead of print]

PMID:
28497568
13.

Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing.

Le Gallo M, Rudd ML, Urick ME, Hansen NF, Zhang S; NISC Comparative Sequencing Program, Lozy F, Sgroi DC, Vidal Bel A, Matias-Guiu X, Broaddus RR, Lu KH, Levine DA, Mutch DG, Goodfellow PJ, Salvesen HB, Mullikin JC, Bell DW.

Cancer. 2017 Sep 1;123(17):3261-3268. doi: 10.1002/cncr.30745. Epub 2017 May 9.

PMID:
28485815
14.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M.

Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20.

15.

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM.

Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17.

16.

Genetic regulatory signatures underlying islet gene expression and type 2 diabetes.

Varshney A, Scott LJ, Welch RP, Erdos MR, Chines PS, Narisu N, Albanus RD, Orchard P, Wolford BN, Kursawe R, Vadlamudi S, Cannon ME, Didion JP, Hensley J, Kirilusha A; NISC Comparative Sequencing Program, Bonnycastle LL, Taylor DL, Watanabe R, Mohlke KL, Boehnke M, Collins FS, Parker SC, Stitzel ML.

Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2301-2306. doi: 10.1073/pnas.1621192114. Epub 2017 Feb 13.

17.

First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.

Dewan R, Pemov A, Dutra AS, Pak ED, Edwards NA, Ray-Chaudhury A, Hansen NF, Chandrasekharappa SC, Mullikin JC, Asthagiri AR; NISC Comparative Sequencing Program, Heiss JD, Stewart DR, Germanwala AV.

BMC Cancer. 2017 Feb 13;17(1):127. doi: 10.1186/s12885-017-3127-6.

18.

Hypoxia-induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis.

Loftus SK, Baxter LL, Cronin JC, Fufa TD; NISC Comparative Sequencing Program, Pavan WJ.

Pigment Cell Melanoma Res. 2017 May;30(3):339-352. doi: 10.1111/pcmr.12579. Epub 2017 Apr 19.

19.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Cullinane AR, Vilboux T, Gahl WA, Gunay-Aygun M.

J Med Genet. 2017 Aug;54(8):521-529. doi: 10.1136/jmedgenet-2016-104425. Epub 2017 Jan 13.

PMID:
28087721
20.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H.

Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan.

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