Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... von Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders von Lee, Hane, Deignan, Joshua L, Dorrani, Naghmeh, Strom, Samuel P, Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L, Martinez-Agosto, Julian A, Wong, Derek A, Chang, Vivian Y, Shieh, Perry B, Palmer, Christina G. S, Dipple, Katrina M, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F

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Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia von Fogel, Brent L, Lee, Hane, Deignan, Joshua L, Strom, Samuel P, Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W, Perlman, Susan, Geschwind, Daniel H, Nelson, Stanley F

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Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... von Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes von Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel

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Response to Maya et al von Riggs, Erin Rooney, Andersen, Erica F., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) von Bean, Lora, Funke, Birgit, Carlston, Colleen M., Gannon, Jennifer L., Kantarci, Sibel, Krock, Bryan L., Zhang, Shulin, Bayrak-Toydemir, Pinar

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A Novel 1p35.1p34.3 Microdeletion in a Baby Boy with Multiple Congenital Anomalies and Developmental Delay von Kantarci, Sibel

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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay von Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P., Deignan, Joshua L., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.

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De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders von Amarillo, Ina E., Li, Wenhui Laura, Li, Xinmin, Vilain, Eric, Kantarci, Sibel

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eP366 - A web-based educational program to support the updated ACMG/ ClinGen technical standards for constitutional copy number variant classification von Riggs, Erin, Good, Molly, Andersen, Erica, Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah, Thorland, Erik, Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa

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A web-based educational program to support the updated ACMG/ ClinGen technical standards for constitutional copy number variant classification von Riggs, Erin, Good, Molly, Andersen, Erica, Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah, Thorland, Erik, Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa

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Response to Spurdle et al von Riggs, Erin R, Andersen, Erica F, Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I, South, Sarah T, Thorland, Erik C, Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa L

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Diagnostic gene sequencing panels: from design to report—atechnical standard of the American College of Medical Genetics and Genomics(ACMG) von Bean Lora J H, Funke Birgit, Carlston, Colleen M, Gannon, Jennifer L, Kantarci Sibel, Krock, Bryan L, Zhang, Shulin, Bayrak-Toydemir Pinar

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53. Multidimensional cytogenetics workup on a rare chromosomal aberration von Mulatinho, Milene, Kantarci, Sibel, Crandall, Barbara, Liehr, Thomas, Rao, Nagesh

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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis von Ordulu, Zehra, Kammin, Tammy, Brand, Harrison, Pillalamarri, Vamsee, Redin, Claire E., Collins, Ryan L., Blumenthal, Ian, Hanscom, Carrie, Pereira, Shahrin, Bradley, India, Crandall, Barbara F., Gerrol, Pamela, Hayden, Mark A., Hussain, Naveed, Kanengisser-Pines, Bibi, Kantarci, Sibel, Levy, Brynn, Macera, Michael J., Quintero-Rivera, Fabiola, Spiegel, Erica, Stevens, Blair, Ulm, Janet E., Warburton, Dorothy, Wilkins-Haug, Louise E., Yachelevich, Naomi, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.

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Human Endometrial Cells Express Elevated Levels of Pluripotent Factors and Are More Amenable to Reprogramming into Induced Pluripotent Stem Cells von Park, Joo Hyun, Daheron, Laurence, Kantarci, Sibel, Lee, Byung Seok, Teixeira, Jose M

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Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) wor... von Chun, Kathy, Wenger, Gail D., Chaubey, Alka, Dash, D.P., Kanagal-Shamanna, Rashmi, Kantarci, Sibel, Kolhe, Ravindra, Van Dyke, Daniel L., Wang, Lu, Wolff, Daynna J., Miron, Patricia M.

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A Call to Action: Training Pathology Residents in Genomics and Personalized Medicine von HASPEL, Richard L, ARNAOUT, Ramy, BRIERE, Lauren, KANTARCI, Sibel, MARCHAND, Karen, TONELLATO, Peter, CONNOLLY, James, BOGUSKI, Mark S, SAFFITZ, Jeffrey E

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Exome Sequencing Improves Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia (S32.003) von Fogel, Brent, Lee, Hane, Deignan, Joshua, Strom, Samuel, Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne, Perlman, Susan, Geschwind, Daniel, Nelson, Stanley

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