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Items: 1 to 20 of 76

1.

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH.

Nat Biotechnol. 2016 Apr 11. doi: 10.1038/nbt.3514. [Epub ahead of print]

PMID:
27065010
2.

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C.

JIMD Rep. 2016 Feb 27. [Epub ahead of print]

PMID:
26920905
3.

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H.

Hum Genomics. 2016 Jan 18;10(1):5. doi: 10.1186/s40246-016-0060-8. No abstract available.

4.

MESP1 Mutations in Patients with Congenital Heart Defects.

Werner P, Latney B, Deardorff MA, Goldmuntz E.

Hum Mutat. 2016 Mar;37(3):308-14. doi: 10.1002/humu.22947. Epub 2016 Jan 19.

PMID:
26694203
5.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Liu Y, Li Y, March ME, Kenny N, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H.

Hum Genomics. 2015 Nov 11;9:31. doi: 10.1186/s40246-015-0053-z.

6.

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA.

J Med Genet. 2016 Jan;53(1):53-61. doi: 10.1136/jmedgenet-2015-103394. Epub 2015 Nov 6.

PMID:
26545876
7.

Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.

Decroos C, Christianson NH, Gullett LE, Bowman CM, Christianson KE, Deardorff MA, Christianson DW.

Biochemistry. 2015 Oct 27;54(42):6501-13. doi: 10.1021/acs.biochem.5b00881. Epub 2015 Oct 14.

8.

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E.

J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30.

PMID:
26424144
9.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL.

Hum Genomics. 2015 Jul 19;9:15. doi: 10.1186/s40246-015-0038-y.

10.

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE.

Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21.

PMID:
25899772
11.

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID.

Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2.

12.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.

Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

PMID:
25655089
13.

Melorheostosis: segmental osteopoikilosis or a separate entity?

Kadhim M, Deardorff MA, Dubbs H, Zackai EH, Dormans JP.

J Pediatr Orthop. 2015 Mar;35(2):e13-7. doi: 10.1097/BPO.0000000000000384.

PMID:
25575356
14.

Clinical utility gene card for: Cornelia de Lange syndrome.

Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J.

Eur J Hum Genet. 2015 Oct;23(10). doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24. No abstract available.

PMID:
25537356
15.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.

J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.

16.

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

Vergano SS, Deardorff MA.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):252-6. doi: 10.1002/ajmg.c.31411. Epub 2014 Aug 28.

PMID:
25169447
17.

Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.

Decroos C, Bowman CM, Moser JA, Christianson KE, Deardorff MA, Christianson DW.

ACS Chem Biol. 2014 Sep 19;9(9):2157-64. doi: 10.1021/cb5003762. Epub 2014 Jul 30.

18.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA.

Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006.

19.

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA.

Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30.

20.

IMAGe Syndrome.

Bennett J, Schrier Vergano SA, Deardorff MA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2014 Mar 13.

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