Results
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Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11. [electronic resource] by
- Kekis, Mariana
- Deeg, Carol
- Hashimoto, Sayaka
- McKinney, Aimee
- Erdman, Linda
- Green-Geer, Cecelia
- Shuss, Christine
- Hickey, Scott
- Astbury, Caroline
- Pyatt, Robert E
Producer: 20171030
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders. [electronic resource] by
- Repnikova, Elena A
- Lyalin, Dmitry A
- McDonald, Kimberly
- Astbury, Caroline
- Hansen-Kiss, Emily
- Cooley, Linda D
- Pfau, Ruthann
- Herman, Gail E
- Pyatt, Robert E
- Hickey, Scott E
Producer: 20200930
In:
European journal of medical genetics vol. 63
Availability: No items available.
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12.
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12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. [electronic resource] by
- Alyaqoub, Fadel
- Pyatt, Robert E
- Bailes, Andrea
- Brock, Amanda
- Deeg, Carol
- McKinney, Aimee
- Astbury, Caroline
- Reshmi, Shalini
- Shane, Kate P
- Thrush, Devon Lamb
- Sommer, Annemarie
- Gastier-Foster, Julie M
Producer: 20130621
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
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13.
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Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. [electronic resource] by
- Repnikova, Elena A
- Astbury, Caroline
- Reshmi, Shalini C
- Ramsey, Sarah N
- Atkin, Joan F
- Thrush, Devon Lamb
- Mitchell, Anna L
- Pyatt, Robert E
- Reber, Kristina
- Slavin, Thomas
- Gastier-Foster, Julie M
Producer: 20121105
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
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14.
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Newborn and carrier screening for spinal muscular atrophy. [electronic resource] by
- Prior, Thomas W
- Snyder, Pamela J
- Rink, Britton D
- Pearl, Dennis K
- Pyatt, Robert E
- Mihal, David C
- Conlan, Todd
- Schmalz, Betsy
- Montgomery, Laura
- Ziegler, Katie
- Noonan, Carolee
- Hashimoto, Sayaka
- Garner, Shannon
Producer: 20100929
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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15.
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Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization. [electronic resource] by
- Repnikova, Elena A
- Rosenfeld, Jill A
- Bailes, Andrea
- Weber, Cecilia
- Erdman, Linda
- McKinney, Aimee
- Ramsey, Sarah
- Hashimoto, Sayaka
- Lamb Thrush, Devon
- Astbury, Caroline
- Reshmi, Shalini C
- Shaffer, Lisa G
- Gastier-Foster, Julie M
- Pyatt, Robert E
Producer: 20140512
In:
Forensic science international. Genetics vol. 7
Availability: No items available.
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16.
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Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel. [electronic resource] by
- Kalman, Lisa
- Leonard, Jay
- Gerry, Norman
- Tarleton, Jack
- Bridges, Christina
- Gastier-Foster, Julie M
- Pyatt, Robert E
- Stonerock, Eileen
- Johnson, Monique A
- Richards, C Sue
- Schrijver, Iris
- Ma, Tianhui
- Miller, Vanessa Rangel
- Adadevoh, Yetsa
- Furlong, Pat
- Beiswanger, Christine
- Toji, Lorraine
Producer: 20110624
In:
The Journal of molecular diagnostics : JMD vol. 13
Availability: No items available.
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17.
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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. [electronic resource] by
- Ballif, Blake C
- Theisen, Aaron
- Rosenfeld, Jill A
- Traylor, Ryan N
- Gastier-Foster, Julie
- Thrush, Devon Lamb
- Astbury, Caroline
- Bartholomew, Dennis
- McBride, Kim L
- Pyatt, Robert E
- Shane, Kate
- Smith, Wendy E
- Banks, Valerie
- Gallentine, William B
- Brock, Pamela
- Rudd, M Katharine
- Adam, Margaret P
- Keene, Julia A
- Phillips, John A
- Pfotenhauer, Jean P
- Gowans, Gordon C
- Stankiewicz, Pawel
- Bejjani, Bassem A
- Shaffer, Lisa G
Producer: 20100415
In:
American journal of human genetics vol. 86
Availability: No items available.
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18.
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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. [electronic resource] by
- Mullegama, Sureni V
- Rosenfeld, Jill A
- Orellana, Carmen
- van Bon, Bregje W M
- Halbach, Sara
- Repnikova, Elena A
- Brick, Lauren
- Li, Chumei
- Dupuis, Lucie
- Rosello, Monica
- Aradhya, Swaroop
- Stavropoulos, D James
- Manickam, Kandamurugu
- Mitchell, Elyse
- Hodge, Jennelle C
- Talkowski, Michael E
- Gusella, James F
- Keller, Kory
- Zonana, Jonathan
- Schwartz, Stuart
- Pyatt, Robert E
- Waggoner, Darrel J
- Shaffer, Lisa G
- Lin, Angela E
- de Vries, Bert B A
- Mendoza-Londono, Roberto
- Elsea, Sarah H
Producer: 20150212
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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19.
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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. [electronic resource] by
- Talkowski, Michael E
- Mullegama, Sureni V
- Rosenfeld, Jill A
- van Bon, Bregje W M
- Shen, Yiping
- Repnikova, Elena A
- Gastier-Foster, Julie
- Thrush, Devon Lamb
- Kathiresan, Sekar
- Ruderfer, Douglas M
- Chiang, Colby
- Hanscom, Carrie
- Ernst, Carl
- Lindgren, Amelia M
- Morton, Cynthia C
- An, Yu
- Astbury, Caroline
- Brueton, Louise A
- Lichtenbelt, Klaske D
- Ades, Lesley C
- Fichera, Marco
- Romano, Corrado
- Innis, Jeffrey W
- Williams, Charles A
- Bartholomew, Dennis
- Van Allen, Margot I
- Parikh, Aditi
- Zhang, Lilei
- Wu, Bai-Lin
- Pyatt, Robert E
- Schwartz, Stuart
- Shaffer, Lisa G
- de Vries, Bert B A
- Gusella, James F
- Elsea, Sarah H
Producer: 20111212
In:
American journal of human genetics vol. 89
Availability: No items available.
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20.
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. [electronic resource] by
- Beunders, Gea
- Voorhoeve, Els
- Golzio, Christelle
- Pardo, Luba M
- Rosenfeld, Jill A
- Talkowski, Michael E
- Simonic, Ingrid
- Lionel, Anath C
- Vergult, Sarah
- Pyatt, Robert E
- van de Kamp, Jiddeke
- Nieuwint, Aggie
- Weiss, Marjan M
- Rizzu, Patrizia
- Verwer, Lucilla E N I
- van Spaendonk, Rosalina M L
- Shen, Yiping
- Wu, Bai-lin
- Yu, Tingting
- Yu, Yongguo
- Chiang, Colby
- Gusella, James F
- Lindgren, Amelia M
- Morton, Cynthia C
- van Binsbergen, Ellen
- Bulk, Saskia
- van Rossem, Els
- Vanakker, Olivier
- Armstrong, Ruth
- Park, Soo-Mi
- Greenhalgh, Lynn
- Maye, Una
- Neill, Nicholas J
- Abbott, Kristin M
- Sell, Susan
- Ladda, Roger
- Farber, Darren M
- Bader, Patricia I
- Cushing, Tom
- Drautz, Joanne M
- Konczal, Laura
- Nash, Patricia
- de Los Reyes, Emily
- Carter, Melissa T
- Hopkins, Elizabeth
- Marshall, Christian R
- Osborne, Lucy R
- Gripp, Karen W
- Thrush, Devon Lamb
- Hashimoto, Sayaka
- Gastier-Foster, Julie M
- Astbury, Caroline
- Ylstra, Bauke
- Meijers-Heijboer, Hanne
- Posthuma, Danielle
- Menten, Björn
- Mortier, Geert
- Scherer, Stephen W
- Eichler, Evan E
- Girirajan, Santhosh
- Katsanis, Nicholas
- Groffen, Alexander J
- Sistermans, Erik A
Producer: 20130404
In:
American journal of human genetics vol. 92
Availability: No items available.
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