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Items: 1 to 50 of 129

1.

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 Oct 12. pii: S0090-8258(18)31249-6. doi: 10.1016/j.ygyno.2018.09.030. [Epub ahead of print]

PMID:
30322717
2.

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
3.

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.

PMID:
30290151
4.

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 Oct 5. doi: 10.1002/ajmg.a.40485. [Epub ahead of print]

PMID:
30289605
5.

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.

6.

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
7.

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
8.

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
9.

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
10.

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
11.

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
12.

Response to ten Broeke et al.

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

Genet Med. 2018 May 24. doi: 10.1038/s41436-018-0031-7. [Epub ahead of print] No abstract available.

PMID:
29795440
13.

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
14.

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
15.

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
16.

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.

17.

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 Jan 18. doi: 10.1038/gim.2017.254. [Epub ahead of print]

PMID:
29345684
18.

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.

19.

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.

20.

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.

21.

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
22.

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
23.

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
24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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
30.

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
31.

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.

32.

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.

33.

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
34.

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.

35.

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.

36.

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.

37.

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
38.

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.

39.

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
40.

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.

41.

GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly.

Bear KA, Solomon BD.

Am J Med Genet A. 2015 Oct;167A(10):2491-2. doi: 10.1002/ajmg.a.37160. Epub 2015 May 14. No abstract available.

PMID:
25974718
42.

Genomic sequencing and the impact of molecular diagnosis on patient care.

Solomon BD.

Mol Syndromol. 2015 Feb;6(1):4-6. doi: 10.1159/000371398. Epub 2015 Jan 21.

43.

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Solomon BD, Bodian DL, Khromykh A, Mora GG, Lanpher BC, Iyer RK, Baveja R, Vockley JG, Niederhuber JE.

Am J Med Genet A. 2015 May;167A(5):1111-6. doi: 10.1002/ajmg.a.36883. Epub 2015 Feb 25.

PMID:
25712426
44.

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.

Bodian DL, Solomon BD, Khromykh A, Thach DC, Iyer RK, Link K, Baker RL, Baveja R, Vockley JG, Niederhuber JE.

Mol Genet Genomic Med. 2014 Nov;2(6):530-8. doi: 10.1002/mgg3.107. Epub 2014 Aug 26.

45.

Policies for the Sustainable Development of Biofuels in the Pan American Region: A Review and Synthesis of Five Countries.

Solomon BD, Banerjee A, Acevedo A, Halvorsen KE, Eastmond A.

Environ Manage. 2015 Dec;56(6):1276-94. doi: 10.1007/s00267-014-0424-6. Epub 2014 Dec 21.

PMID:
25526849
46.

Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.

Agochukwu NB, Solomon BD, Muenke M.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28. Review.

PMID:
25441602
47.

Analysis of renal anomalies in VACTERL association.

Cunningham BK, Khromykh A, Martinez AF, Carney T, Hadley DW, Solomon BD.

Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):801-5. doi: 10.1002/bdra.23302. Epub 2014 Sep 5.

48.

Mutations in NOTCH1 cause Adams-Oliver syndrome.

Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS.

Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14.

49.

Obstacles and opportunities for the future of genomic medicine.

Solomon BD.

Mol Genet Genomic Med. 2014 May;2(3):205-9. doi: 10.1002/mgg3.78. Epub 2014 May 6. No abstract available.

50.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M.

J Med Genet. 2014 Jun;51(6):413-8. doi: 10.1136/jmedgenet-2013-102249. Epub 2014 Apr 17.

PMID:
24744436

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