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Items: 1 to 50 of 139

1.

Rising rural body-mass index is the main driver of the global obesity epidemic in adults.

NCD Risk Factor Collaboration (NCD-RisC).

Nature. 2019 May;569(7755):260-264. doi: 10.1038/s41586-019-1171-x. Epub 2019 May 8.

2.

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T.

Am J Med Genet A. 2019 Jun;179(6):927-935. doi: 10.1002/ajmg.a.61126. Epub 2019 Mar 27.

PMID:
30919572
3.

Genomic and molecular characterization of preterm birth.

Knijnenburg TA, Vockley JG, Chambwe N, Gibbs DL, Humphries C, Huddleston KC, Klein E, Kothiyal P, Tasseff R, Dhankani V, Bodian DL, Wong WSW, Glusman G, Mauldin DE, Miller M, Slagel J, Elasady S, Roach JC, Kramer R, Leinonen K, Linthorst J, Baveja R, Baker R, Solomon BD, Eley G, Iyer RK, Maxwell GL, Bernard B, Shmulevich I, Hood L, Niederhuber JE.

Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5819-5827. doi: 10.1073/pnas.1716314116. Epub 2019 Mar 4.

4.

Response to Wang et al.

Roberts ME, Zeinomar N, Solomon BD, Terry MB, Chung WK.

Genet Med. 2019 Mar 1. doi: 10.1038/s41436-019-0469-2. [Epub ahead of print] No abstract available.

PMID:
30824819
5.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Feb 11. doi: 10.1038/s41436-019-0454-9. [Epub ahead of print]

PMID:
30739909
6.

Mother-child histocompatibility and risk of rheumatoid arthritis and systemic lupus erythematosus among mothers.

Cruz GI, Shao X, Quach H, Quach D, Ho KA, Sterba K, Noble JA, Patsopoulos NA, Busch MP, Triulzi DJ, Ladas N, Blasczyk R, Wong WSW, Solomon BD, Niederhuber JE, Criswell LA, Barcellos LF.

Genes Immun. 2019 Jan 12. doi: 10.1038/s41435-018-0055-7. [Epub ahead of print]

PMID:
30635658
7.

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

Sutcliffe EG, Bartenbaker Thompson A, Stettner AR, Marshall ML, Roberts ME, Susswein LR, Wang Y, Klein RT, Hruska KS, Solomon BD.

Fam Cancer. 2019 Apr;18(2):203-209. doi: 10.1007/s10689-018-00116-2.

PMID:
30604180
8.

The etiology of VACTERL association: Current knowledge and hypotheses.

Solomon BD.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. Review.

PMID:
30580478
9.

Response to Evans et al.

Roberts ME, Zeinomar N, Solomon BD, Terry MB, Chung WK.

Genet Med. 2018 Dec 19. doi: 10.1038/s41436-018-0400-2. [Epub ahead of print] No abstract available.

PMID:
30563985
10.

Cancer genetics program: Follow-up on clinical genetics and genomic medicine in Qatar.

Al-Bader SB, Alsulaiman R, Bugrein H, Ben Omran T, Abbaszadeh F, Bakheet N, Apsa Kusasi S, Abdou N, Solomon BD, Ghazouani H.

Mol Genet Genomic Med. 2018 Nov;6(6):865-872. doi: 10.1002/mgg3.534. Epub 2018 Dec 16. Review.

11.

Germline pathogenic variants identified in women with ovarian tumors.

Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.

Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.

PMID:
30322717
12.

Author Correction: Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5.

PMID:
30291356
13.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

14.

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Valentin MN, Solomon BD, Richard G, Ferreira CR, Kirkorian AY.

Am J Med Genet A. 2018 Nov;176(11):2451-2455. doi: 10.1002/ajmg.a.40485. Epub 2018 Oct 5.

PMID:
30289605
15.

Clinical genetics and genomic medicine in Qatar.

Al-Dewik N, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Mahmoud L, Othman A, AlMulla M, Sulaiman RA, Musa S, Abdoh G, El-Akouri K, Solomon BD, Ben-Omran T.

Mol Genet Genomic Med. 2018 Sep;6(5):702-712. doi: 10.1002/mgg3.474. No abstract available.

16.

Holoprosencephaly flashcards: An updated summary for the clinician.

Solomon BD, Kruszka P, Muenke M.

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):117-121. doi: 10.1002/ajmg.c.31621. No abstract available.

PMID:
30182444
17.

Introduction.

Kruszka P, Solomon BD, Muenke M.

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):113-116. doi: 10.1002/ajmg.c.31626. No abstract available.

PMID:
30182443
18.

Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.

Theobald KA, Susswein LR, Marshall ML, Roberts ME, Mester JL, Speyer D, Williams RNW, Knapke SC, Solomon SR, Murphy PD, Klein RT, Hruska KS, Solomon BD.

Ann Surg Oncol. 2018 Nov;25(12):3556-3562. doi: 10.1245/s10434-018-6581-8. Epub 2018 Aug 30.

PMID:
30167906
19.

Phenotypic diversity of patients diagnosed with VACTERL association.

Husain M, Dutra-Clarke M, Lemieux B, Wencel M, Solomon BD, Kimonis V.

Am J Med Genet A. 2018 Sep;176(9):1830-1837. doi: 10.1002/ajmg.a.40363. Epub 2018 Aug 27.

PMID:
30152190
20.

Early inspirations from times gone by.

Slavotinek A, Solomon BD, Muenke M.

Am J Med Genet A. 2018 Sep;176(9):1797-1798. doi: 10.1002/ajmg.a.40474. Epub 2018 Jul 31. No abstract available.

PMID:
30063092
21.

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 Oct;39(10):1416-1427. doi: 10.1002/humu.23590. Epub 2018 Jul 26.

PMID:
29992659
22.

Response to ten Broeke et al.

Roberts ME, Zeinomar N, Solomon BD, Terry MB, Chung WK.

Genet Med. 2019 Jan;21(1):258-259. doi: 10.1038/s41436-018-0031-7. Epub 2018 May 24. No abstract available.

23.

Holoprosencephaly: A clinical genomics perspective.

Solomon BD, Retterer K, Juusola J.

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):194-197. doi: 10.1002/ajmg.c.31613. Epub 2018 May 11.

PMID:
29749690
24.

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.

Goldmann JM, Seplyarskiy VB, Wong WSW, Vilboux T, Neerincx PB, Bodian DL, Solomon BD, Veltman JA, Deeken JF, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Apr;50(4):487-492. doi: 10.1038/s41588-018-0071-6. Epub 2018 Mar 5.

PMID:
29507425
25.

Clinical, Social, and Genetic Factors Associated with Obesity at 12 Months of Age.

Hazrati S, Wong WSW, Huddleston K, Yui Y, Gilchrist N, Solomon BD, Niederhuber J, Hourigan SK.

J Pediatr. 2018 May;196:175-181.e7. doi: 10.1016/j.jpeds.2017.12.042. Epub 2018 Feb 9.

PMID:
29433747
26.

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS, Solomon BD, Vilboux T, Khromykh A, Baveja R, Bodian DL.

Mol Genet Genomic Med. 2018 Mar;6(2):200-212. doi: 10.1002/mgg3.357. Epub 2018 Jan 25.

27.

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma X, Marshall ML, Stettner AR, Milewski B, Xu Z, Solomon BD, Terry MB, Hruska KS, Klein RT, Chung WK.

Genet Med. 2018 Oct;20(10):1167-1174. doi: 10.1038/gim.2017.254. Epub 2018 Jan 18.

28.

Helicobacter species are potent drivers of colonic T cell responses in homeostasis and inflammation.

Chai JN, Peng Y, Rengarajan S, Solomon BD, Ai TL, Shen Z, Perry JSA, Knoop KA, Tanoue T, Narushima S, Honda K, Elson CO, Newberry RD, Stappenbeck TS, Kau AL, Peterson DA, Fox JG, Hsieh CS.

Sci Immunol. 2017 Jul 21;2(13). pii: eaal5068. doi: 10.1126/sciimmunol.aal5068.

29.

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Bodian DL, Vilboux T, Hourigan SK, Jenevein CL, Mani H, Kent KC, Khromykh A, Solomon BD, Hauser NS.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002055. doi: 10.1101/mcs.a002055. Print 2017 Nov.

30.

Human germline hedgehog pathway mutations predispose to fatty liver.

Guillen-Sacoto MJ, Martinez AF, Abe Y, Kruszka P, Weiss K, Everson JL, Bataller R, Kleiner DE, Ward JM, Sulik KK, Lipinski RJ, Solomon BD, Muenke M.

J Hepatol. 2017 Oct;67(4):809-817. doi: 10.1016/j.jhep.2017.06.008. Epub 2017 Jun 21.

31.

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD.

Genet Med. 2017 Dec;19(12):1367-1375. doi: 10.1038/gim.2017.57. Epub 2017 Jun 15.

PMID:
28617419
32.

Increased risk of rheumatoid arthritis among mothers with children who carry DRB1 risk-associated alleles.

Cruz GI, Shao X, Quach H, Ho KA, Sterba K, Noble JA, Patsopoulos NA, Busch MP, Triulzi DJ, Wong WS, Solomon BD, Niederhuber JE, Criswell LA, Barcellos LF.

Ann Rheum Dis. 2017 Aug;76(8):1405-1410. doi: 10.1136/annrheumdis-2016-210662. Epub 2017 Apr 8.

PMID:
28391248
33.

Efforts Toward Consensus Variant Interpretation by Commercial Laboratories.

Dolinsky JS, Hruska KS, Pesaran T, Richardson ME, Klein RT, Solomon BD, Gau CL.

J Clin Oncol. 2017 Apr 10;35(11):1261-1262. doi: 10.1200/JCO.2016.71.2505. Epub 2017 Jan 30. No abstract available.

PMID:
28135139
34.

Putting the Pieces Together: Clinically Relevant Genetic and Genomic Resources for Hospitalists and Neonatologists.

Miller R, Khromykh A, Babcock H, Jenevein C, Solomon BD.

Hosp Pediatr. 2017 Feb;7(2):108-114. doi: 10.1542/hpeds.2016-0135.

35.

A Child's HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosus.

Cruz GI, Shao X, Quach H, Ho KA, Sterba K, Noble JA, Patsopoulos NA, Busch MP, Triulzi DJ, Wong WS, Solomon BD, Niederhuber JE, Criswell LA, Barcellos LF.

J Autoimmun. 2016 Nov;74:201-207. doi: 10.1016/j.jaut.2016.06.017. Epub 2016 Jul 4.

36.

Antigen-Specific Development of Mucosal Foxp3+RORγt+ T Cells from Regulatory T Cell Precursors.

Solomon BD, Hsieh CS.

J Immunol. 2016 Nov 1;197(9):3512-3519. Epub 2016 Sep 26.

37.

A 2.5-year snapshot of Mendelian discovery.

Solomon BD, Lee T, Nguyen AD, Wolfsberg TG.

Mol Genet Genomic Med. 2016 Apr 3;4(4):392-4. doi: 10.1002/mgg3.221. eCollection 2016 Jul. No abstract available.

38.

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD.

Brain. 2016 Sep;139(Pt 9):e52. doi: 10.1093/brain/aww135. Epub 2016 Jun 24. No abstract available.

39.

Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Erratum in: Nat Genet. 2018 Nov;50(11):1615.

PMID:
27322544
40.

Tracking medical genetic literature through machine learning.

Bornstein AT, McLoughlin MH, Aguilar J, Wong WS, Solomon BD.

Mol Genet Metab. 2016 Aug;118(4):255-8. doi: 10.1016/j.ymgme.2016.05.016. Epub 2016 May 22.

PMID:
27268407
41.

Considerations of pharmacogenetic testing in children.

Haga SB, Solomon BD.

Pharmacogenomics. 2016 Jun;17(9):975-7. doi: 10.2217/pgs-2016-0073. Epub 2016 Jun 1. No abstract available.

42.

X-Linked Candidate Genes for a Ciliopathy-Like Disorder.

Pavey AR, Vilboux T, Babcock HE, Ahronovich M, Solomon BD.

Mol Syndromol. 2016 Apr;7(1):37-42. doi: 10.1159/000444666. Epub 2016 Mar 16.

43.

Genomics ruins a genre.

Solomon BD.

Per Med. 2016 May;13(3):221-224. doi: 10.2217/pme-2016-0001. Epub 2016 Mar 22. No abstract available.

PMID:
29767603
44.

New observations on maternal age effect on germline de novo mutations.

Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE.

Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486.

45.

The Benefits of Whole-Genome Sequencing Now and in the Future.

Khromykh A, Solomon BD.

Mol Syndromol. 2015 Sep;6(3):108-9. doi: 10.1159/000438732. Epub 2015 Aug 13. No abstract available.

46.

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.

Khromykh A, Solomon BD, Bodian DL, Leon EL, Iyer RK, Baker RL, Ascher DP, Baveja R, Vockley JG, Niederhuber JE.

Mol Syndromol. 2015 Sep;6(3):141-6. doi: 10.1159/000433621. Epub 2015 Jul 3.

47.

Commentary on: Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome.

Solomon BD.

J Neonatal Perinatal Med. 2015;8(2):73-5. doi: 10.3233/NPM-15915031. No abstract available.

PMID:
26410428
48.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program, Gahl WA, Gunay-Aygun M.

J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.

49.

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, Huddleston KC, Gaither AD, Remsburg I, Khromykh A, Baker RL, Maxwell GL, Vockley JG, Niederhuber JE, Solomon BD.

Genet Med. 2016 Mar;18(3):221-30. doi: 10.1038/gim.2015.111. Epub 2015 Sep 3.

PMID:
26334177
50.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013.

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