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Items: 1 to 50 of 337

1.

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.

Bick D, Jones M, Taylor SL, Taft RJ, Belmont J.

J Med Genet. 2019 Apr 25. pii: jmedgenet-2019-106111. doi: 10.1136/jmedgenet-2019-106111. [Epub ahead of print] Review.

2.

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.

3.

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.

Schulze KV, Bhatt A, Azamian MS, Sundgren NC, Zapata GE, Hernandez P, Fox K, Kaiser JR, Belmont JW, Hanchard NA.

Genet Med. 2019 Apr 17. doi: 10.1038/s41436-019-0516-z. [Epub ahead of print]

PMID:
30992551
4.

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
5.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A; ICSL Interpretation and Reporting Team, Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ.

NPJ Genom Med. 2019 Feb 14;4:5. doi: 10.1038/s41525-018-0076-1. eCollection 2019.

6.

Correction: Estimating the burden and economic impact of pediatric genetic disease.

Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ.

Genet Med. 2019 Feb 14. doi: 10.1038/s41436-019-0458-5. [Epub ahead of print]

PMID:
30760893
7.

Genetic architecture of laterality defects revealed by whole exome sequencing.

Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW.

Eur J Hum Genet. 2019 Apr;27(4):563-573. doi: 10.1038/s41431-018-0307-z. Epub 2019 Jan 8.

PMID:
30622330
8.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW; Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT.

Am J Med Genet A. 2019 Mar;179(3):475-479. doi: 10.1002/ajmg.a.61007. Epub 2018 Dec 19.

PMID:
30569621
9.

Estimating the burden and economic impact of pediatric genetic disease.

Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ.

Genet Med. 2018 Dec 20. doi: 10.1038/s41436-018-0398-5. [Epub ahead of print] Erratum in: Genet Med. 2019 Feb 14;:.

PMID:
30568310
10.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B.

Genet Med. 2018 Dec 20. doi: 10.1038/s41436-018-0358-0. [Epub ahead of print]

PMID:
30568308
11.

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.

Gandal MJ, Zhang P, Hadjimichael E, Walker RL, Chen C, Liu S, Won H, van Bakel H, Varghese M, Wang Y, Shieh AW, Haney J, Parhami S, Belmont J, Kim M, Moran Losada P, Khan Z, Mleczko J, Xia Y, Dai R, Wang D, Yang YT, Xu M, Fish K, Hof PR, Warrell J, Fitzgerald D, White K, Jaffe AE; PsychENCODE Consortium, Peters MA, Gerstein M, Liu C, Iakoucheva LM, Pinto D, Geschwind DH.

Science. 2018 Dec 14;362(6420). pii: eaat8127. doi: 10.1126/science.aat8127.

12.

DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study.

Lupo PJ, Brown AL, Arroyo VM, Kamdar KY, Belmont JW, Scheurer ME, Leisenring WM, Gramatges MM, Okcu MF, Yasui Y, Oeffinger KC, Robison LL, Armstrong GT, Bhatia S.

Genes Chromosomes Cancer. 2019 Jan;58(1):52-59. doi: 10.1002/gcc.22701. Epub 2018 Dec 4.

PMID:
30382603
13.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

14.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.

Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ.

Genet Med. 2019 May;21(5):1121-1130. doi: 10.1038/s41436-018-0295-y. Epub 2018 Oct 8.

PMID:
30293986
15.

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.

Støve SI, Blenski M, Stray-Pedersen A, Wierenga KJ, Jhangiani SN, Akdemir ZC, Crawford D, McTiernan N, Myklebust LM, Purcarin G, McNall-Knapp R, Wadley A, Belmont JW, Kim JJ, Lupski JR, Arnesen T.

Eur J Hum Genet. 2018 Sep;26(9):1294-1305. doi: 10.1038/s41431-018-0136-0. Epub 2018 May 10.

PMID:
29748569
16.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW.

Genome Med. 2017 Oct 31;9(1):95. doi: 10.1186/s13073-017-0482-5.

17.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

18.

Neural-specific deletion of the focal adhesion adaptor protein paxillin slows migration speed and delays cortical layer formation.

Rashid M, Belmont J, Carpenter D, Turner CE, Olson EC.

Development. 2017 Nov 1;144(21):4002-4014. doi: 10.1242/dev.147934. Epub 2017 Sep 21.

19.

A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility.

Peckham-Gregory EC, Chakraborty R, Scheurer ME, Belmont JW, Abhyankar H, Sengal AG, Scull BP, Eckstein O, Zinn DJ, Mayer L, Shih A, Merad M, Parsons DW, McClain KL, Lupo PJ, Allen CE.

Blood. 2017 Nov 16;130(20):2229-2232. doi: 10.1182/blood-2017-08-800565. Epub 2017 Sep 21. No abstract available.

20.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.

Genome Med. 2017 Aug 14;9(1):73. doi: 10.1186/s13073-017-0463-8.

21.

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW.

Am J Med Genet A. 2017 Aug;173(8):2176-2188. doi: 10.1002/ajmg.a.38309. Epub 2017 Jun 27.

22.

A PLC-γ1 Feedback Pathway Regulates Lck Substrate Phosphorylation at the T-Cell Receptor and SLP-76 Complex.

Belmont J, Gu T, Mudd A, Salomon AR.

J Proteome Res. 2017 Aug 4;16(8):2729-2742. doi: 10.1021/acs.jproteome.6b01026. Epub 2017 Jul 6.

23.

Highly reproducible improved label-free quantitative analysis of cellular phosphoproteome by optimization of LC-MS/MS gradient and analytical column construction.

Ahsan N, Belmont J, Chen Z, Clifton JG, Salomon AR.

J Proteomics. 2017 Aug 8;165:69-74. doi: 10.1016/j.jprot.2017.06.013. Epub 2017 Jun 17.

24.

Tamoxifen inhibits mitochondrial membrane damage caused by disulfiram.

Pavón N, Buelna-Chontal M, Correa F, Yoval-Sánchez B, Belmont J, Hernández-Esquivel L, Rodríguez-Zavala JS, Chávez E.

Biochem Cell Biol. 2017 Oct;95(5):556-562. doi: 10.1139/bcb-2017-0027. Epub 2017 Jun 8.

PMID:
28595020
25.

Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.

26.

The 2017 international classification of the Ehlers-Danlos syndromes.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

PMID:
28306229
27.

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review.

PMID:
28306228
28.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984.

29.

Water Load Test in Children with Chronic Abdominal Pain or Obesity Compared with Nonobese Controls.

Arrouk R, Karpinski A, Lavenbarg T, Belmont J, McCallum RW, Hyman P.

South Med J. 2017 Mar;110(3):168-171. doi: 10.14423/SMJ.0000000000000612.

PMID:
28257540
30.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR.

Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. doi: 10.1093/nar/gkw1237.

31.

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Cowan JR, Tariq M, Shaw C, Rao M, Belmont JW, Lalani SR, Smolarek TA, Ware SM.

Philos Trans R Soc Lond B Biol Sci. 2016 Dec 19;371(1710). pii: 20150406.

32.

Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.

Santos-Cortez RL, Hutchinson DS, Ajami NJ, Reyes-Quintos MR, Tantoco ML, Labra PJ, Lagrana SM, Pedro M, Llanes EG, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Belmont JW, Chonmaitree T, Abes GT, Petrosino JF, Leal SM, Chiong CM.

Infect Dis Poverty. 2016 Nov 1;5(1):97.

33.

Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.

34.

Clinical bioinformatics: emergence of a new laboratory discipline.

Belmont JW, Shaw CA.

Expert Rev Mol Diagn. 2016 Nov;16(11):1139-1141. Epub 2016 Oct 20. No abstract available.

PMID:
27715336
35.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL.

Hum Mol Genet. 2016 Jun 1;25(11):2331-2341. Epub 2016 Mar 9.

36.

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ.

Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.

37.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y.

Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8.

38.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832.

39.

Correction: Integrative genomic analysis of the human immune response to influenza vaccination.

Franco LM, Bucasas KL, Wells JM, Niño D, Wang X, Zapata GE, Arden N, Renwick A, Yu P, Quarles JM, Bray MS, Couch RB, Belmont JW, Shaw CA.

Elife. 2016 Aug 30;5. pii: e18898. doi: 10.7554/eLife.18898. No abstract available.

40.

Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions.

Guthrie G, Kulkarni M, Vlaardingerbroek H, Stoll B, Ng K, Martin C, Belmont J, Hadsell D, Heird W, Newgard CB, Olutoye O, van Goudoever J, Lauridsen C, He X, Schuchman EH, Burrin D.

J Lipid Res. 2016 Sep;57(9):1696-711. doi: 10.1194/jlr.M069526. Epub 2016 Jul 29.

41.

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

Methner DN, Scherer SE, Welch K, Walkiewicz M, Eng CM, Belmont JW, Powell MC, Korchina V, Doddapaneni HV, Muzny DM, Gibbs RA, Wolf DA, Sanchez LA, Kahn R.

Genome Res. 2016 Sep;26(9):1170-7. doi: 10.1101/gr.195800.115. Epub 2016 Jul 19.

42.

The ethics of conducting molecular autopsies in cases of sudden death in the young.

McGuire AL, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, Sanchez LA; Molecular Autopsy Consortium of Houston (MATCH).

Genome Res. 2016 Sep;26(9):1165-9. doi: 10.1101/gr.192401.115. Epub 2016 Jul 13. No abstract available.

43.

Gene Expression Profiling Identifies Cell Proliferation and Inflammation as the Predominant Pathways Regulated by Aryl Hydrocarbon Receptor in Primary Human Fetal Lung Cells Exposed to Hyperoxia.

Shivanna B, Maity S, Zhang S, Patel A, Jiang W, Wang L, Welty SE, Belmont J, Coarfa C, Moorthy B.

Toxicol Sci. 2016 Jul;152(1):155-68. doi: 10.1093/toxsci/kfw071. Epub 2016 Apr 21.

44.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR.

Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011.

45.

Toward clinical genomics in everyday medicine: perspectives and recommendations.

Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC.

Expert Rev Mol Diagn. 2016;16(5):521-32. doi: 10.1586/14737159.2016.1146593. Epub 2016 Feb 24.

46.

Nutritional and Metabolic Biomarkers in Autism Spectrum Disorders: An Exploratory Study.

Esparham AE, Smith T, Belmont JM, Haden M, Wagner LE, Evans RG, Drisko JA.

Integr Med (Encinitas). 2015 Apr;14(2):40-53.

47.

Racial disparities in heterotaxy syndrome.

Lopez KN, Marengo LK, Canfield MA, Belmont JW, Dickerson HA.

Birth Defects Res A Clin Mol Teratol. 2015 Nov;103(11):941-50. doi: 10.1002/bdra.23416. Epub 2015 Sep 2.

PMID:
26333177
48.

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Harel T, Posey JE, Graham BH, Walkiewicz M, Yang Y, Lalani SR, Belmont JW.

Am J Med Genet A. 2015 Nov;167A(11):2742-7. doi: 10.1002/ajmg.a.37230. Epub 2015 Jul 21.

49.

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD.

Am J Hum Genet. 2015 Jul 2;97(1):6-21. doi: 10.1016/j.ajhg.2015.05.022. Review. Erratum in: Am J Hum Genet. 2015 Sep 3;97(3):501.

50.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR.

Orphanet J Rare Dis. 2015 Jun 14;10:75. doi: 10.1186/s13023-015-0291-0.

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