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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
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.
Published in American journal of human genetics (07.10.2011)
Published in American journal of human genetics (07.10.2011)
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Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologies
Farwell Hagman, Kelly D., Lamb Thrush, Devon, Freeze, Samantha, Dorsainville, Darnelle L., Eichmeyer, Jennifer, Banks, Kimberly C.
Published in Journal of genetic counseling (01.10.2020)
Published in Journal of genetic counseling (01.10.2020)
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Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach
Zion, Tricia N., Wayburn, Bess, Darabi, Sourat, Lamb Thrush, Devon, Smith, Erica D., Johnston, Tami, Martin, Brissa, Hagman, Kelly D. F., Parra, Melissa, Antolik, Christian
Published in Molecular genetics & genomic medicine (01.05.2019)
Published in Molecular genetics & genomic medicine (01.05.2019)
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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
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.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Variability in pathogenicity prediction programs: impact on clinical diagnostics
Walters‐Sen, Lauren C., Hashimoto, Sayaka, Thrush, Devon Lamb, Reshmi, Shalini, Gastier‐Foster, Julie M., Astbury, Caroline, Pyatt, Robert E.
Published in Molecular genetics & genomic medicine (01.03.2015)
Published in Molecular genetics & genomic medicine (01.03.2015)
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12q14 microdeletion associated with HMGA2 gene disruption and growth restriction
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.
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
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Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization
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.
Published in Forensic science international : genetics (01.09.2013)
Published in Forensic science international : genetics (01.09.2013)
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Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients
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.
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
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Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy
Bowden, Sasigarn A., Cozzi, Corin, Hickey, Scott E., Thrush, Devon Lamb, Astbury, Caroline, Nuthakki, Sushma
Published in Case reports in endocrinology (01.01.2013)
Published in Case reports in endocrinology (01.01.2013)
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Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization
Cottrell, Catherine E., Prior, Thomas W., Pyatt, Robert, Astbury, Caroline, Reshmi, Shalini, Bartholomew, Dennis, Atkin, Joan, Manickam, Kandamurugu, Thrush, Devon Lamb, Pastore, Matthew, Mendell, Jerry, Tsao, Chang‐Yong, al‐Dahhak, Roula, Newmeyer, Amy, Gastier‐Foster, Julie M.
Published in American journal of medical genetics. Part A (01.09.2010)
Published in American journal of medical genetics. Part A (01.09.2010)
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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities
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.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant
Barrie, Elizabeth S., Li, Yu, Lamb-Thrush, Devon, Hashimoto, Sayaka, Matthews, Theodora, Mouhlas, Danielle, Pyatt, Robert, Reshmi, Shalini C., Gastier-Foster, Julie M., Pfau, Ruthann, Astbury, Caroline
Published in European journal of medical genetics (01.07.2018)
Published in European journal of medical genetics (01.07.2018)
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MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation
Pfau, Ruthann B., Thrush, Devon Lamb, Hamelberg, Elizabeth, Bartholomew, Dennis, Botes, Shaun, Pastore, Matthew, Tan, Christopher, del Gaudio, Daniela, Gastier-Foster, Julie M., Astbury, Caroline
Published in European journal of medical genetics (01.11.2013)
Published in European journal of medical genetics (01.11.2013)
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Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia
Walters-Sen, Lauren C., Thrush, Devon Lamb, Hickey, Scott E., Hashimoto, Sayaka, Reshmi, Shalini, Gastier-Foster, Julie M., Pyatt, Robert E., Astbury, Caroline
Published in European journal of medical genetics (01.07.2014)
Published in European journal of medical genetics (01.07.2014)
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A case of an atypically large proximal 15q deletion as cause for Prader–Willi syndrome arising from a de novo unbalanced translocation
Hickey, Scott E., Thrush, Devon Lamb, Walters-Sen, Lauren, Reshmi, Shalini C., Astbury, Caroline, Gastier-Foster, Julie M., Atkin, Joan
Published in European journal of medical genetics (01.09.2013)
Published in European journal of medical genetics (01.09.2013)
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Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
Hickey, Scott E., Biswas, Sawona, Thrush, Devon Lamb, Pyatt, Robert E., Gastier-Foster, Julie M., Astbury, Caroline, Atkin, Joan
Published in European journal of medical genetics (01.09.2013)
Published in European journal of medical genetics (01.09.2013)
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12q14 microdeletion associated with HMGA2 gene disruption and growth restriction
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.
Published in American Journal of Medical Genetics Part A (01.11.2012)
Published in American Journal of Medical Genetics Part A (01.11.2012)
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Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization
Cottrell, Catherine E., Prior, Thomas W., Pyatt, Robert, Astbury, Caroline, Reshmi, Shalini, Bartholomew, Dennis, Atkin, Joan, Manickam, Kandamurugu, Thrush, Devon Lamb, Pastore, Matthew, Mendell, Jerry, Tsao, Chang-Yong, al-Dahhak, Roula, Newmeyer, Amy, Gastier-Foster, Julie M.
Published in American Journal of Medical Genetics Part A (01.09.2010)
Published in American Journal of Medical Genetics Part A (01.09.2010)
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