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Items: 1 to 20 of 186

1.

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.

PMID:
28327206
2.

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.

3.

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 CM, 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. 2016 Dec 14. pii: gkw1237. [Epub ahead of print]

PMID:
27980096
4.

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.

PMID:
27821535
5.

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.

6.

Clinical bioinformatics: emergence of a new laboratory discipline.

Belmont JW, Shaw CA.

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

PMID:
27715336
7.

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.

PMID:
26965164
8.

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. 2016 Sep 22. doi: 10.1038/gim.2016.131. [Epub ahead of print]

PMID:
27657687
9.

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.

PMID:
27616478
10.

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 LT, 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.

PMID:
27577878
11.

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.

12.

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.

13.

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. No abstract available.

14.

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):562-70. doi: 10.1016/j.ajhg.2016.01.011.

15.

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.

16.

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.

PMID:
26333177
17.

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.

18.

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.

19.

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.

20.

Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study.

Zhai Y, Franco LM, Atmar RL, Quarles JM, Arden N, Bucasas KL, Wells JM, Niño D, Wang X, Zapata GE, Shaw CA, Belmont JW, Couch RB.

PLoS Pathog. 2015 Jun 12;11(6):e1004869. doi: 10.1371/journal.ppat.1004869.

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