Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) von Ferguson, P J, Chen, S, Tayeh, M K, Ochoa, L, Leal, S M, Pelet, A, Munnich, A, Lyonnet, S, Majeed, H A, El-Shanti, H

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Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11) von Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., Nishimura, Darryl Y., Braun, Terry A., Kim, Kwang-Youn A., Huang, Jian, Elbedour, Khalil, Carmi, Rivka, Slusarski, Diane C., Casavant, Thomas L., Stone, Edwin M., Sheffield, Val C.

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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation von Hussain, Iram, Patni, Nivedita, Ueda, Masako, Sorkina, Ekaterina, Valerio, Cynthia M, Cochran, Elaine, Brown, Rebecca J, Peeden, Joseph, Tikhonovich, Yulia, Tiulpakov, Anatoly, Stender, Sarah R S, Klouda, Elisabeth, Tayeh, Marwan K, Innis, Jeffrey W, Meyer, Anders, Lal, Priti, Godoy-Matos, Amelio F, Teles, Milena G, Adams-Huet, Beverley, Rader, Daniel J, Hegele, Robert A, Oral, Elif A, Garg, Abhimanyu

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The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies von Noto, Fallon K, Sangodkar, Jaya, Adedeji, Bisoye Towobola, Moody, Sam, McClain, Christopher B, Tong, Ming, Ostertag, Eric, Crawford, Jack, Gao, Xiaohua, Hurst, Lauren, O'Connor, Caitlin M, Hanson, Erika N, Izadmehr, Sudeh, Tohmé, Rita, Narla, Jyothsna, LeSueur, Kristin, Bhattacharya, Kajari, Rupani, Amit, Tayeh, Marwan K, Innis, Jeffrey W, Galsky, Matthew D, Evers, B Mark, DiFeo, Analisa, Narla, Goutham, Jamling, Tseten Y

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2D/3D SOIL CONSUMPTION TRACKING IN A MARBLE QUARRY DISTRICT von Licciardello, C., Di Marco, A., Biagini, S., Palazzuoli, D., Tayeh, K.

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Aggression and increased glutamate in the mPFC during withdrawal from intermittent alcohol in outbred mice von Hwa, Lara S., Nathanson, Anna J., Shimamoto, Akiko, Tayeh, Jillian K., Wilens, Allison R., Holly, Elizabeth N., Newman, Emily L., DeBold, Joseph F., Miczek, Klaus A.

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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG) von del Gaudio, Daniela, Shinawi, Marwan, Astbury, Caroline, Tayeh, Marwan K., Deak, Kristen L., Raca, Gordana

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Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG) von Deignan, Joshua L., De Castro, Mauricio, Horner, Vanessa L., Johnston, Tami, Macaya, Daniela, Maleszewski, Joseph J., Reddi, Honey V., Tayeh, Marwan K.

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Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort von Ajluni, Nevin, Meral, Rasimcan, Neidert, Adam H., Brady, Graham F., Buras, Eric, McKenna, Barbara, DiPaola, Frank, Chenevert, Thomas L., Horowitz, Jeffrey F., Buggs‐Saxton, Colleen, Rupani, Amit R., Thomas, Peedikayil E., Tayeh, Marwan K., Innis, Jeffrey W., Omary, M. Bishr, Conjeevaram, Hari, Oral, Elif A.

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Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG) von Tayeh, Marwan K., Gaedigk, Andrea, Goetz, Matthew P., Klein, Teri E., Lyon, Elaine, McMillin, Gwendolyn A., Rentas, Stefan, Shinawi, Marwan, Pratt, Victoria M., Scott, Stuart A.

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Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability von Tayeh, Marwan K., DeVaul, Janean, LeSueur, Kristin, Yang, Chen, Bedoyan, Jirair K., Thomas, Peedikayil, Hannibal, Mark C., Innis, Jeffrey W.

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The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) von Tayeh, Marwan K., Chen, Margaret, Fullerton, Stephanie M., Gonzales, Patrick R., Huang, Samuel J., Massingham, Lauren J., O’Daniel, Julianne M., Stewart, Douglas R., Stiles, Ashlee R., Evans, Barbara J.

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Cardiac phenotype in familial partial lipodystrophy von Eldin, Abdelwahab Jalal, Akinci, Baris, Rocha, Andre Monteiro, Meral, Rasimcan, Simsir, Ilgin Yildirim, Adiyaman, Suleyman Cem, Ozpelit, Ebru, Bhave, Nicole, Gen, Ramazan, Yurekli, Banu, Ozdemir Kutbay, Nilufer, Siklar, Zeynep, Neidert, Adam H., Hench, Rita, Tayeh, Marwan K., Innis, Jeffrey W., Jalife, Jose, Oral, Hakan, Oral, Elif A.

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Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications von Tayeh, Marwan K, Chin, Ephrem L H, Miller, Vanessa R, Bean, Lora J H, Coffee, Bradford, Hegde, Madhuri

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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar von Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao‐Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund‐Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld‐Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Kokalj Vokac, Nadja, Thorland, Erik C., Andersen, Erica, Martin, Christa L.

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Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis von Sahinoz, Melis, Khairi, Shafaq, Cuttitta, Ashley, Brady, Graham F, Rupani, Amit, Meral, Rasimcan, Tayeh, Marwan K, Thomas, Peedikayil, Riebschleger, Meredith, Camelo-Piragua, Sandra, Innis, Jeffrey W, Bishr Omary, M, Michele, Daniel E, Oral, Elif A

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Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function von Yen, Hsan-Jan, Tayeh, Marwan K., Mullins, Robert F., Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C.

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Metreleptin therapy for nonalcoholic steatohepatitis: Open-label therapy interventions in two different clinical settings von Akinci, Baris, Subauste, Angela, Ajluni, Nevin, Esfandiari, Nazanene H., Meral, Rasimcan, Neidert, Adam H., Eraslan, Akin, Hench, Rita, Rus, Diana, Mckenna, Barbara, Hussain, Hero K., Chenevert, Thomas L., Tayeh, Marwan K., Rupani, Amit R., Innis, Jeffrey W., Mantzoros, Christos S., Conjeevaram, Hari S., Burant, Charles L., Oral, Elif A.

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Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome von Fath, Melissa A., Mullins, Robert F., Searby, Charles, Nishimura, Darryl Y., Wei, Jun, Rahmouni, Kamal, Davis, Roger E., Tayeh, Marwan K., Andrews, Michael, Yang, Baoli, Sigmund, Curt D., Stone, Edwin M., Sheffield, Val C.

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Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning von Tayeh, Marwan K., Yen, Hsan-Jan, Beck, John S., Searby, Charles C., Westfall, Trudi A., Griesbach, Hilary, Sheffield, Val C., Slusarski, Diane C.

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