Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 388

1.

Genomic sequencing identifies secondary findings in a cohort of parent study participants.

Thompson ML, Finnila CR, Bowling KM, Brothers KB, Neu MB, Amaral MD, Hiatt SM, East KM, Gray DE, Lawlor JMJ, Kelley WV, Lose EJ, Rich CA, Simmons S, Levy SE, Myers RM, Barsh GS, Bebin EM, Cooper GM.

Genet Med. 2018 Apr 12. doi: 10.1038/gim.2018.53. [Epub ahead of print]

PMID:
29790872
2.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM.

Hum Genet. 2018 May 8. doi: 10.1007/s00439-018-1887-y. [Epub ahead of print]

3.

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J.

Genome Res. 2018 May;28(5):766.3. doi: 10.1101/gr.237321.118. No abstract available.

4.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

PMID:
29656860
5.

Systematic reanalysis of genomic data improves quality of variant interpretation.

Hiatt SM, Amaral MD, Bowling KM, Finnila CR, Thompson ML, Gray DE, Lawlor JMJ, Cochran JN, Bebin EM, Brothers KB, East KM, Kelley WV, Lamb NE, Levy SE, Lose EJ, Neu MB, Rich CA, Simmons S, Myers RM, Barsh GS, Cooper GM.

Clin Genet. 2018 Jul;94(1):174-178. doi: 10.1111/cge.13259. Epub 2018 May 10.

PMID:
29652076
6.

Discovery and Validation of Circulating Biomarkers of Colorectal Adenoma by High-Depth Small RNA Sequencing.

Roberts BS, Hardigan AA, Moore DE, Ramaker RC, Jones AL, Fitz-Gerald MB, Cooper GM, Wilcox CM, Kimberly RP, Myers RM.

Clin Cancer Res. 2018 May 1;24(9):2092-2099. doi: 10.1158/1078-0432.CCR-17-1960. Epub 2018 Feb 28.

PMID:
29490987
7.

Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

Gilbert JR, Taylor GM, Losee JE, Mooney MP, Cooper GM.

Cleft Palate Craniofac J. 2018 Mar;55(3):375-382. doi: 10.1177/1055665617739001. Epub 2017 Dec 18.

PMID:
29437519
8.

Why does the need for medication become a barrier to breastfeeding? A narrative review.

McClatchey AK, Shield A, Cheong LH, Ferguson SL, Cooper GM, Kyle GJ.

Women Birth. 2017 Dec 16. pii: S1871-5192(17)30241-X. doi: 10.1016/j.wombi.2017.12.004. [Epub ahead of print]

PMID:
29258800
9.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N.

Genet Med. 2017 Nov 16. doi: 10.1038/gim.2017.192. [Epub ahead of print]

PMID:
29144510
10.

A genome-wide interactome of DNA-associated proteins in the human liver.

Ramaker RC, Savic D, Hardigan AA, Newberry K, Cooper GM, Myers RM, Cooper SJ.

Genome Res. 2017 Nov;27(11):1950-1960. doi: 10.1101/gr.222083.117. Epub 2017 Oct 11.

11.

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

Blanchet P, Bebin M, Bruet S, Cooper GM, Thompson ML, Duban-Bedu B, Gerard B, Piton A, Suckno S, Deshpande C, Clowes V, Vogt J, Turnpenny P, Williamson MP, Alembik Y; Clinical Sequencing Exploratory Research Study Consortium; Deciphering Developmental Disorders Consortium, Glasgow E, McNeill A.

PLoS Genet. 2017 Aug 31;13(8):e1006957. doi: 10.1371/journal.pgen.1006957. eCollection 2017 Aug.

12.

TLR4 Inactivation in Myeloid Cells Accelerates Bone Healing of a Calvarial Defect Model in Mice.

Wang D, Gilbert JR, Taylor GM, Sodhi CP, Hackam DJ, Losee JE, Billiar TR, Cooper GM.

Plast Reconstr Surg. 2017 Aug;140(2):296e-306e. doi: 10.1097/PRS.0000000000003541.

13.

Genomic diagnosis for children with intellectual disability and/or developmental delay.

Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM.

Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1.

14.

Biomechanical Integrity in Craniofacial Surgery: Calvarial Reconstruction in Favorable and Infected Defects with Bone Morphogenetic Protein 2.

MacIsaac ZM, Henderson SE, Shakir S, Naran S, Smith DM, Camison L, Cray JJ, Almarza AJ, Cooper GM, Losee JE.

Plast Reconstr Surg. 2017 May;139(5):1141-1150. doi: 10.1097/PRS.0000000000003261.

PMID:
28445366
15.

Enhanced Calvarial Bone Healing in CD11c-TLR4-/- and MyD88-/- Mice.

Wang D, Taylor GM, Gilbert JR, Losee JE, Sodhi CP, Hackam DJ, Billiar TR, Cooper GM.

Plast Reconstr Surg. 2017 Apr;139(4):933e-940e. doi: 10.1097/PRS.0000000000003206.

16.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C.

Cell. 2017 Mar 23;169(1):6-12. doi: 10.1016/j.cell.2017.03.005.

17.

Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

Taylor GM, Cooper GM, Losee JE, Mooney MP, Gilbert J.

Cleft Palate Craniofac J. 2018 Aug;55(7):1020-1025. doi: 10.1597/16-135. Epub 2018 Feb 22.

PMID:
28135115
18.

Role for Egr1 in the Transcriptional Program Associated with Neuronal Differentiation of PC12 Cells.

Adams KW, Kletsov S, Lamm RJ, Elman JS, Mullenbrock S, Cooper GM.

PLoS One. 2017 Jan 11;12(1):e0170076. doi: 10.1371/journal.pone.0170076. eCollection 2017.

19.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K.

Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22.

20.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.

Neurol Genet. 2016 Nov 10;2(6):e120. eCollection 2016 Dec.

Supplemental Content

Loading ...
Support Center