PMC Links for OMIM (Select 610443) - PMC

Select item 78455151.

Integration of cytogenetic landmarks into the draft sequence of the human genome

The BAC Resource Consortium, V. G. Cheung, N. Nowak, W. Jang, I. R. Kirsch, S. Zhao, X.-N. Chen, T. S. Furey, U.-J. Kim, W.-L. Kuo, M. Olivier, J. Conroy, A. Kasprzyk, H. Massa, R. Yonescu, S. Sait, C. Thoreen, A. Snijders, E. Lemyre, J. A. Bailey, A. Bruzel, W. D. Burrill, S. M. Clegg, S. Collins, P. Dhami, C. Friedman, C. S. Han, S. Herrick, J. Lee, A. H. Ligon, S. Lowry, M. Morley, S. Narasimhan, K. Osoegawa, Z. Peng, I. Plajzer-Frick, B. J. Quade, D. Scott, K. Sirotkin, A. A. Thorpe, J. W. Gray, J. Hudson, D. Pinkel, T. Ried, L. Rowen, G. L. Shen-Ong, R. L. Strausberg, E. Birney, D. F. Callen, J.-F. Cheng, D. R. Cox, N. A. Doggett, N. P. Carter, E. E. Eichler, D. Haussler, J. R. Korenberg, C. C. Morton, D. Albertson, G. Schuler, P. J. de Jong, B. J. Trask

Nature. 2001; 409(6822): 953–958. doi: 10.1038/35057192

PMCID:: PMC7845515

Abstract Article PDF–664K

Select item 49300862.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A Abdul-Rahman, Heather M Winesett, Wendy K Chung, Marguerite Dalton, Petia S Dimova, Teresa Mattina, Katrina Prescott, Hui Z Zhang, Howard M Saal, Jayne Y Hehir-Kwa, Marjolein H Willemsen, Charlotte W Ockeloen, Marjolijn C Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S Brooks, Sarina G Kant, Erica H Gerkes, Helen V Firth, Katrin Õunap, Lynne M Bird, Diane Masser-Frye, Jennifer R Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, DDD Study, Mary K Kukolich, Julie McGaughran, Bradley P Coe, Jesús Flórez, Nael Nadif Kasri, Han G Brunner, Elizabeth M Thompson, Jozef Gecz, Corrado Romano, Evan E Eichler, Bert BA de Vries

Eur J Hum Genet. 2016 May; 24(5): 652–659. Published online 2015 Aug 26. doi: 10.1038/ejhg.2015.178

PMCID:: PMC4930086

Abstract Article PDF–2.0M

Select item 40203513.

Structural haplotypes and recent evolution of the human 17q21.31 region

Linda M. Boettger, Robert E. Handsaker, Michael C. Zody, Steven A. McCarroll

Nat Genet. Author manuscript; available in PMC 2014 May 14.

Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 881–885. Published online 2012 Jul 1. doi: 10.1038/ng.2334

PMCID:: PMC4020351

Abstract Article PDF–1.1M

Select item 36619464.

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall, Deanna M. Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G. Mulle, Stephen T. Warren, Gabriele Richard, John G. Compton, Amy E. Fuller, Troy J. Gliem, Shuwen Huang, Morag N. Collinson, Sarah J. Beal, Todd Ackley, Diane L. Pickering, Denae M. Golden, Emily Aston, Heidi Whitby, Shashirekha Shetty, Michael R. Rossi, M. Katharine Rudd, Sarah T. South, Arthur R. Brothman, Warren G. Sanger, Ramaswamy K. Iyer, John A. Crolla, Erik C. Thorland, Swaroop Aradhya, David H. Ledbetter, Christa L. Martin

Genet Med. Author manuscript; available in PMC 2013 May 23.

Published in final edited form as: Genet Med. 2011 Sep; 13(9): 777–784. doi: 10.1097/GIM.0b013e31822c79f9

PMCID:: PMC3661946

Abstract Article PDF–307K

Select item 34088295.

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

Karyn Meltz Steinberg, Francesca Antonacci, Peter H. Sudmant, Jeffrey M. Kidd, Catarina D. Campbell, Laura Vives, Maika Malig, Laura Scheinfeldt, William Beggs, Muntaser Ibrahim, Godfrey Lema, Thomas B. Nyambo, Sabah A. Omar, Jean-Marie Bodo, Alain Froment, Michael P. Donnelly, Kenneth K. Kidd, Sarah A. Tishkoff, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 872–880. Published online 2012 Jul 1. doi: 10.1038/ng.2335

PMCID:: PMC3408829

Abstract Article PDF–1.0M

Select item 33222376.

Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

Andy Itsara, Lisenka E.L.M. Vissers, Karyn Meltz Steinberg, Kevin J. Meyer, Michael C. Zody, David A. Koolen, Joep de Ligt, Edwin Cuppen, Carl Baker, Choli Lee, Tina A. Graves, Richard K. Wilson, Robert B. Jenkins, Joris A. Veltman, Evan E. Eichler

Am J Hum Genet. 2012 Apr 6; 90(4): 599–613. doi: 10.1016/j.ajhg.2012.02.013

PMCID:: PMC3322237

Abstract Article PDF–894K

Select item 31712157.

A Copy Number Variation Morbidity Map of Developmental Delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel-Hamid, Patricia Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Nat Genet. 2011 Sep; 43(9): 838–846. Published online 2011 Aug 14. doi: 10.1038/ng.909

Correction in:: volume 46 on page 1040

PMCID:: PMC3171215

Abstract Article PDF–1.0M

Select item 30715708.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, II, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, B B A de Vries

J Med Genet. Author manuscript; available in PMC 2011 Apr 6.

Published in final edited form as: J Med Genet. 2008 Nov; 45(11): 710–720. Published online 2008 Jul 15. doi: 10.1136/jmg.2008.058701

Correction in:: J Med Genet, volume 46 on page 576

PMCID:: PMC3071570

Abstract Article PDF–1.7M

Select item 26847949.

Evolutionary Toggling of the MAPT 17q21.31 Inversion Region

Michael C. Zody, Zhaoshi Jiang, Hon-Chung Fung, Francesca Antonacci, LaDeana W. Hillier, Maria Francesca Cardone, Tina A. Graves, Jeffrey M. Kidd, Ze Cheng, Amr Abouelleil, Lin Chen, John Wallis, Jarret Glasscock, Richard K. Wilson, Amy Denise Reily, Jaime Duckworth, Mario Ventura, John Hardy, Wesley C. Warren, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2009 May 20.

Published in final edited form as: Nat Genet. 2008 Sep; 40(9): 1076–1083. doi: 10.1038/ng.193

PMCID:: PMC2684794

Abstract Article PDF–3.4M

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