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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.


Holoprosencephaly: A clinical genomics perspective.

Solomon BD, Retterer K, Juusola J.

Am J Med Genet C Semin Med Genet. 2018 May 11. doi: 10.1002/ajmg.c.31613. [Epub ahead of print]


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.


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.


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.


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]


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


Enhancing the incidental pipeline in genomic sequencing.

Solomon BD.

Mol Syndromol. 2014 Feb;5(2):47-50. doi: 10.1159/000357929. Epub 2014 Jan 23. No abstract available.


T-cell selection and intestinal homeostasis.

Ai TL, Solomon BD, Hsieh CS.

Immunol Rev. 2014 May;259(1):60-74. doi: 10.1111/imr.12171. Review.


Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.

Tasdemir S, Sahin I, Cayır A, Doneray H, Solomon BD, Muenke M, Yuce I, Tatar A.

J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):777-81. doi: 10.1515/jpem-2013-0449.


Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms.

Agochukwu NB, Solomon BD, Muenke M.

Am J Audiol. 2014 Jun;23(2):135-41. doi: 10.1044/2014_AJA-13-0036. Review.


Incidentalomas in genomics and radiology.

Solomon BD.

N Engl J Med. 2014 Mar 13;370(11):988-90. doi: 10.1056/NEJMp1310471. No abstract available.


T cell immunodominance is dictated by the positively selecting self-peptide.

Lo WL, Solomon BD, Donermeyer DL, Hsieh CS, Allen PM.

Elife. 2014;3:e01457. doi: 10.7554/eLife.01457. Epub 2014 Jan 14.


Analysis of cardiac anomalies in VACTERL association.

Cunningham BK, Hadley DW, Hannoush H, Meltzer AC, Niforatos N, Pineda-Alvarez D, Sachdev V, Warren-Mora N, Solomon BD.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):792-7. doi: 10.1002/bdra.23211.


An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.

Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N.

J Pediatr. 2014 Mar;164(3):451-7.e1. doi: 10.1016/j.jpeds.2013.10.086. Epub 2013 Dec 12. Review. No abstract available.


Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F.

Kidney Int. 2014 Jun;85(6):1310-7. doi: 10.1038/ki.2013.417. Epub 2013 Oct 23.


Holoprosencephaly Overview.

Solomon BD, Gropman A, Muenke M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Dec 27 [updated 2013 Aug 29].


Clinical genomic database.

Solomon BD, Nguyen AD, Bear KA, Wolfsberg TG.

Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9851-5. doi: 10.1073/pnas.1302575110. Epub 2013 May 21.

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