Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M, Curry, Cynthia, Gallagher, Renata C, Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N, Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E
Published in Npj genomic medicine (26.05.2023)
Published in Npj genomic medicine (26.05.2023)
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Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M., Curry, Cynthia, Gallagher, Renata C., Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N., Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E.
Published in Npj genomic medicine (23.10.2023)
Published in Npj genomic medicine (23.10.2023)
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Journal Article
An injectable self-healing coordinative hydrogel with antibacterial and angiogenic properties for diabetic skin wound repair
Chen, Hao, Cheng Ruoyu, Zhao, Xin, Zhang, Yuhui, Tam, Allison, Yan Yufei, Shen Haokai, Zhang, Yu Shrike, Jin, Qi, Feng Yonghai, Liu, Lei, Pan Guoqing, Cui Wenguo, Deng Lianfu
Published in NPG Asia materials (23.01.2019)
Published in NPG Asia materials (23.01.2019)
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De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
Buratti, Julien, Ji, Lei, Keren, Boris, Lee, Youngha, Booke, Stephanie, Erdin, Serkan, Kim, Soo Yeon, Palculict, Timothy Blake, Meiner, Vardiella, Chae, Jong Hee, Woods, Christopher Geoffrey, Tam, Allison, Héron, Delphine, Cong, Feng, Harel, Tamar
Published in Journal of medical genetics (01.03.2021)
Published in Journal of medical genetics (01.03.2021)
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Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Ortigoza‐Escobar, Juan Darío, Zamani, Mina, Dorison, Nathalie, Sadeghian, Saeid, Azizimalamiri, Reza, Alvi, Javeria Raza, Sultan, Tipu, Galehdari, Hamid, Shariati, Gholamreza, Saberi, Alihossein, Leeuwen, Lisette, Zifarelli, Giovanni, Bauer, Peter, d'Hardemare, Vincent, Doummar, Diane, Roze, Emmanuel, Travaglini, Lorena, Nicita, Francesco, Ojea Ponce, Núria, Zahraei, Seyed Mohammadsaleh, Alabdi, Lama, Tamim, Abdullah, Hashem, Mais O., Ababneh, Faroug, Morrow, Michelle M, Curry, Cynthia, Tam, Allison, Ruedy, Jessica, Bhambhani, Vikas, Veith, Regan, Strømme, Petter, Efthymiou, Stephanie, Alkuraya, Fowzan S, Moreno‐De‐Luca, Andres, Burglen, Lydie, Houlden, Henry, Maroofian, Reza
Published in Movement disorders (20.06.2024)
Published in Movement disorders (20.06.2024)
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Quantification of Spatial and Temporal Trends in Atmospheric Mercury Deposition across Canada over the Past 30 Years
Roberts, Sarah L, Kirk, Jane L, Muir, Derek C. G, Wiklund, Johan A, Evans, Marlene S, Gleason, Amber, Tam, Allison, Drevnick, Paul E, Dastoor, Ashu, Ryjkov, Andrei, Yang, Fan, Wang, Xiaowa, Lawson, Greg, Pilote, Martin, Keating, Jonathan, Barst, Benjamin D, Ahad, Jason M. E, Cooke, Colin A
Published in Environmental science & technology (07.12.2021)
Published in Environmental science & technology (07.12.2021)
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Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers
Nagamani, Sandesh C S, Agarwal, Umang, Tam, Allison, Azamian, Mahshid, McMeans, Ann, Didelija, Inka C, Mohammad, Mahmoud A, Marini, Juan C
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
Tam, Allison, AlDhaheri, Noura Salem, Mysore, Krupa, Tessier, Mary Elizabeth, Goss, John, Fernandez, Luis A., D'Alessandro, Anthony M., Schwoerer, Jessica Scott, Rice, Gregory M., Elsea, Sarah H., Scaglia, Fernando
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
Adamo, Christin S., Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R., Tufa, Sara F., Mörgelin, Matthias, Brinckmann, Jürgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muiño-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P., Gangaram, Balram, Tam, Allison, Balasubramanian, Meena, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W., Hayflick, Susan J., Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C., Sakai, Lynn Y., Sengle, Gerhard, Callewaert, Bert
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
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Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study
Jain, Mahim, Tam, Allison, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Mullins, Mary, Bellur, Sunil, Byers, Peter H, Pepin, Melanie, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Lee, Brendan, Sutton, V Reid, Nagamani, Sandesh C S
Published in Genetics in medicine (01.02.2019)
Published in Genetics in medicine (01.02.2019)
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A multicenter study to evaluate pulmonary function in osteogenesis imperfecta
Tam, Allison, Chen, Shan, Schauer, Evan, Grafe, Ingo, Bandi, Venkata, Shapiro, Jay R., Steiner, Robert D., Smith, Peter A., Bober, Michael B., Hart, Tracy, Cuthbertson, David, Krischer, Jeffrey, Mullins, Mary, Byers, Peter H., Sandhaus, Robert A., Durigova, Michaela, Glorieux, Francis H., Rauch, Frank, Reid Sutton, Vernon, Lee, Brendan, Rush, Eric T., Nagamani, Sandesh C.S.
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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Journal Article
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers
Nagamani, Sandesh C.S., Agarwal, Umang, Tam, Allison, Azamian, Mahshid, McMeans, Ann, Didelija, Inka C., Mohammad, Mahmoud A., Marini, Juan C.
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Journal Article
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
Li, Dong, March, Michael E., Fortugno, Paola, Cox, Liza L., Matsuoka, Leticia S., Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C., Bedoukian, Emma C., Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia R. P., Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P., Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C., Zackai, Elaine H., Brancati, Francesco, Hakonarson, Hakon, Bhoj, Elizabeth J.
Published in Human genetics (01.07.2021)
Published in Human genetics (01.07.2021)
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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome
Cao, Felicia, Lu, Linchao, Abrams, Steven A, Hawthorne, Keli M, Tam, Allison, Jin, Weidong, Dawson, Brian, Shypailo, Roman, Liu, Hao, Lee, Brendan, Nagamani, Sandesh C S, Wang, Lisa L
Published in Human molecular genetics (15.08.2017)
Published in Human molecular genetics (15.08.2017)
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Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1
Tam, Allison, Sliepka, Joseph M., Bellur, Sunil, Bray, Collin Douglas, Lincoln, Christie M., Nagamani, Sandesh C.S.
Published in Clinical imaging (01.09.2018)
Published in Clinical imaging (01.09.2018)
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