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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. .png)
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SaveTechnical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) (vol 22, pg 245, 2020)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 Share Save Response to Maya et al.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 Share Save Share Save Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)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 Share Save Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisOrdulu, 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. Share Save Share Save An Infant with MLH3 Variants, FOXG1-Duplication and Multiple, Benign Cranial and Spinal Tumors: A Clinical Exome Sequencing StudyKansal, Rina; Li, Xinmin; Shen, Joseph; Samuel, David; Laningham, Fred; Lee, Hane; Panigrahi, Gagan B.; Shuen, Andrew; Kantarci, Sibel; Dorrani, Naghmeh; Reiss, Jean; Shintaku, Peter; Deignan, Joshua L.; Strom, Samuel P.; Pearson, Christopher E.; Vilain, Eric; Grody, Wayne W. Share Save De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental DelayArboleda, 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. Share Save Clinical Exome Sequencing for Genetic Identification of Rare Mendelian DisordersLee, 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. Share Save Share Save Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesKantarci, Sibel; Al-Gazali, Lihadh; Hill, R. Sean; Donnai, Dian; Black, Graeme C. M.; Bieth, Eric; Chassaing, Nicolas; Lacombe, Didier; Devriendt, Koen; Teebi, Ahmad; Loscertales, Maria; Robson, Caroline; Liu, Tianming; MacLaughlin, David T.; Noonan, Kristin M.; Russell, Meaghan K.; AWalsh, Christopher; Donahoe, Patricia K.; Pober, Barbara R. Share Save Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney diseaseConsugar, MB; Anderson, SA; Rossetti, S; Pankratz, S; Ward, CJ; Torra, R; Coto, E; El-Youssef, M; Kantarci, S; Utsch, B; Hildebrandt, F; Sweeney, WE; Avner, ED; Torres, VE; Cunningham, JM; Harris, PC Share Save 
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