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2. Nosology of genetic skeletal disorders: 2023 revision.

Author

Unger, Sheila, Ferreira, Carlos, Mortier, Geert, Ali, Houda, Bertola, Débora, Calder, Alistair, Cohn, Daniel, Cormier-Daire, Valerie, Girisha, Katta, Hall, Christine, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V, Warman, Matthew, Superti-Furga, Andrea, and Krakow, Deborah

Abstract

The Nosology of genetic skeletal disorders has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine.

Published
2023

3. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Author

Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Carter, Jennefer, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Delot, Emmanuele, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garcia, Brandon, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lee, Arthur, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James (Jim), Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Mendez, Hector Rodrigo, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Nguyen, Thuy-mi P., Nguyen, Jonathan, Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria`Sara, Ponce, Sarah, Porter, Elizabeth, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Evette, Scott, Stuart, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Kevin, Smith, Josh, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael (Mike), Tise, Christina, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Wei, Chia-Lin, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Chong, Jessica X., Berger, Seth I., Smith, Erica, Calame, Daniel G., Hawley, Megan H., Rivera-Munoz, E. Andres, Bamshad, Michael J., and Rehm, Heidi L.

Published
2024
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4. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

Author

Guffon, Nathalie, Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica A., Jayakar, Parul, Lund, Allan M., Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara S., Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian B., Scarpa, Maurizio, Sutton, V. Reid, and Muschol, Nicole

Published
2024
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5. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

Author

Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, and Mazzeu, Juliana F

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.

Published
2022

7. The impact of the Turkish population variome on the genomic architecture of rare disease traits

Author

Coban-Akdemir, Zeynep, Song, Xiaofei, Ceballos, Francisco C., Pehlivan, Davut, Karaca, Ender, Bayram, Yavuz, Mitani, Tadahiro, Gambin, Tomasz, Bozkurt-Yozgatli, Tugce, Jhangiani, Shalini N., Muzny, Donna M., Lewis, Richard A., Liu, Pengfei, Boerwinkle, Eric, Hamosh, Ada, Gibbs, Richard A., Sutton, V. Reid, Sobreira, Nara, Carvalho, Claudia M.B., Shaw, Chad A., Posey, Jennifer E., Valle, David, and Lupski, James R.

Published
2024
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9. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

Author

Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Bozkurt-Yozgatli, Tugce, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Délot, Emmanuèle, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fatih, Jawid, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Pagé, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Guarischi Sousa, Rodrigo, Gudmundsson, Sanna, Gulati, Ashima, Guo, Daniel, Hale, Walker, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Herman, Isabella, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kohler, Jennefer, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James, Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Kumara Mastrorosa, Francesco, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Rodrigo Mendez, Hector, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moussa, Hala Mohamed, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Neu, Matthew B., Nguyen, Jonathan, Nguyen, Thuy-mi P., Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria, Ponce, Sarah, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Stuart, Scott, Evette, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Josh, Smith, Kevin, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sundaram, Laksshman, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael, Tise, Christina, Tong, Catherine, Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Wong, Issac, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Wojcik, Monica H., Reuter, Chloe M., Duyzend, Michael H., Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Starita, Lea M., Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., and Sedlazeck, Fritz J.

Published
2023
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10. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

Author

Jolly, Angad, Du, Haowei, Borel, Christelle, Chen, Na, Zhao, Sen, Grochowski, Christopher M., Duan, Ruizhi, Fatih, Jawid M., Dawood, Moez, Salvi, Sejal, Jhangiani, Shalini N., Muzny, Donna M., Koch, André, Rouskas, Konstantinos, Glentis, Stavros, Deligeoroglou, Efthymios, Bacopoulou, Flora, Wise, Carol A., Dietrich, Jennifer E., Van den Veyver, Ignatia B., Dimas, Antigone S., Brucker, Sara, Sutton, V. Reid, Gibbs, Richard A., Antonarakis, Stylianos E., Wu, Nan, Coban-Akdemir, Zeynep H., Zhu, Lan, Posey, Jennifer E., and Lupski, James R.

Published
2023
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11. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

Author

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, , Members of the Brittle Bone Disorders Consortium*,, and Nagamani, Sandesh CS

Subjects
Osteogenesis Imperfecta, Nutrition, Pediatric, Obesity, Digestive Diseases, Prevention, Clinical Research, Congenital Structural Anomalies, Rare Diseases, Adolescent, Adult, Body Height, Body Mass Index, Body Weight, Child, Child, Preschool, Diphosphonates, Female, Humans, Male, North America, Pamidronate, Young Adult, Growth, Height, Natural history study, Osteogenesis imperfecta, Weight, Members of the Brittle Bone Disorders Consortium*, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

PurposeOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.MethodsUsing data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves.ResultsIn children, the median z-scores for height in OI types I, III, and IV were -0.66, -6.91, and -2.79, respectively. Growth velocity was diminished in OI types III and IV. The median z-score for weight in children with OI type III was -4.55. The median z-scores for BMI in children with OI types I, III, and IV were 0.10, 0.91, and 0.67, respectively. Generalized linear model analyses demonstrated that the height z-score was positively correlated with the severity of the OI subtype (P

Published
2019

12. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Author

Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., and Lupski, James R.

Published
2022
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13. Centers for Mendelian Genomics: A decade of facilitating gene discovery

Author

Adams, Marcia, Aguet, François, Akay, Gulsen, Anderson, Peter, Antonescu, Corina, Arachchi, Harindra M., Atik, Mehmed M., Austin-Tse, Christina A., Babb, Larry, Bacus, Tamara J., Bahrambeigi, Vahid, Balasubramanian, Suganthi, Bayram, Yavuz, Beaudet, Arthur L., Beck, Christine R., Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boerwinkle, Eric, Boone, Philip M., Bowne, Sara J., Brand, Harrison, Buckingham, Kati J., Byrne, Alicia B., Calame, Daniel, Campbell, Ian M., Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Chang, Jaime, Chao, Katherine R., Chinn, Ivan K., Clarke, Declan, Collins, Ryan L., Cummings, Beryl, Dardas, Zain, Dawood, Moez, Delano, Kayla, DiTroia, Stephanie P., Doddapaneni, Harshavardhan, Du, Haowei, Du, Renqian, Duan, Ruizhi, Eldomery, Mohammad, Eng, Christine M., England, Eleina, Evangelista, Emily, Everett, Selin, Fatih, Jawid, Felsenfeld, Adam, Francioli, Laurent C., Frazar, Christian D., Fu, Jack, Gamarra, Emmanuel, Gambin, Tomasz, Gan, Weiniu, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Giroux, Danielle, Gonzaga-Jauregui, Claudia, Goodrich, Julia K., Gordon, William W., Griffith, Sean, Grochowski, Christopher M., Gu, Shen, Gudmundsson, Sanna, Hall, Stacey J., Hansen, Adam, Harel, Tamar, Harmanci, Arif O., Herman, Isabella, Hetrick, Kurt, Hijazi, Hadia, Horike-Pyne, Martha, Hsu, Elvin, Hu, Jianhong, Huang, Yongqing, Hurless, Jameson R., Jahl, Steve, Jarvik, Gail P., Jiang, Yunyun, Johanson, Eric, Jolly, Angad, Karaca, Ender, Khayat, Michael, Knight, James, Kolar, J. Thomas, Kumar, Sushant, Lalani, Seema, Laricchia, Kristen M., Larkin, Kathryn E., Leal, Suzanne M., Lemire, Gabrielle, Lewis, Richard A., Li, He, Ling, Hua, Lipson, Rachel B., Liu, Pengfei, Lovgren, Alysia Kern, López-Giráldez, Francesc, MacMillan, Melissa P., Mangilog, Brian E., Mano, Stacy, Marafi, Dana, Marosy, Beth, Marshall, Jamie L., Martin, Renan, Marvin, Colby T., Mawhinney, Michelle, McGee, Sean, McGoldrick, Daniel J., Mehaffey, Michelle, Mekonnen, Betselote, Meng, Xiaolu, Mitani, Tadahiro, Miyake, Christina Y., Mohr, David, Morris, Shaine, Mullen, Thomas E., Murdock, David R., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nguyen, Kevin K., Nielsen, Patrick M., Nudelman, Natalie, O’Heir, Emily, O’Leary, Melanie C., Ongaco, Chrissie, Orange, Jordan, Osei-Owusu, Ikeoluwa A., Paine, Ingrid S., Pais, Lynn S., Paschall, Justin, Patterson, Karynne, Pehlivan, Davut, Pelle, Benjamin, Penney, Samantha, Perez de Acha Chavez, Jorge, Pierce-Hoffman, Emma, Poli, Cecilia M., Punetha, Jaya, Radhakrishnan, Aparna, Richardson, Matthew A., Rodrigues, Eliete, Roote, Gwendolin T., Rosenfeld, Jill A., Ryke, Erica L., Sabo, Aniko, Sanchez, Alice, Schrauwen, Isabelle, Scott, Daryl A., Sedlazeck, Fritz, Serrano, Jillian, Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Singer-Berk, Moriel, Smith, Joshua D., Snow, Hana, Snyder, Grace, Solomonson, Matthew, Son, Rachel G., Song, Xiaofei, Stankiewicz, Pawel, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Sánchez, Diana Cornejo, Tackett, Monica, Talkowski, Michael, Threlkeld, Machiko S., Tiao, Grace, Udler, Miriam S., Vail, Laura, Valivullah, Zaheer, Valkanas, Elise, VanNoy, Grace E., Wang, Qingbo S., Wang, Gao, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Weisburd, Ben, Weiss, Jeffrey M., Wheeler, Marsha M., White, Janson J., Williamson, Clara E., Wilson, Michael W., Wiszniewski, Wojciech, Withers, Marjorie A., Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wojcik, Monica H., Wong, Isaac, Wood, Jordan C., Wu, Nan, Xing, Jinchuan, Yang, Yaping, Yi, Qian, Yuan, Bo, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Peng, Zhang, Yan, Zhang, Xiaohong, Zhang, Yeting, Zhang, Shifa, Zoghbi, Huda, van den Veyver, Igna, Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Rehm, Heidi L., and O’Donnell-Luria, Anne

Published
2022
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14. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Author

Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, and Carvalho, Claudia M.B.

Published
2022
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16. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Author

Marom, Ronit, Burrage, Lindsay C., Venditti, Rossella, Clément, Aurélie, Blanco-Sánchez, Bernardo, Jain, Mahim, Scott, Daryl A., Rosenfeld, Jill A., Sutton, V. Reid, Shinawi, Marwan, Mirzaa, Ghayda, DeVile, Catherine, Roberts, Rowenna, Calder, Alistair D., Allgrove, Jeremy, Grafe, Ingo, Lanza, Denise G., Li, Xiaohui, Joeng, Kyu Sang, Lee, Yi-Chien, Song, I-Wen, Sliepka, Joseph M., Batkovskyte, Dominyka, Washington, Megan, Dawson, Brian C., Jin, Zixue, Jiang, Ming-Ming, Chen, Shan, Chen, Yuqing, Tran, Alyssa A., Emrick, Lisa T., Murdock, David R., Hanchard, Neil A., Zapata, Gladys E., Mehta, Nitesh R., Weis, Mary Ann, Scott, Abbey A., Tremp, Brenna A., Phillips, Jennifer B., Wegner, Jeremy, Taylor-Miller, Tashunka, Gibbs, Richard A., Muzny, Donna M., Jhangiani, Shalini N., Hicks, John, Stottmann, Rolf W., Dickinson, Mary E., Seavitt, John R., Heaney, Jason D., Eyre, David R., Westerfield, Monte, De Matteis, Maria Antonietta, and Lee, Brendan

Published
2021
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17. Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

Author

Lee, Brendan, Sutton, V. Reid, Nagamani, Sandesh C.S., Glorieux, Francis, Lee, Janice, Esposito, Paul, Wallace, Maegen, Bober, Michael, Eyre, David, Gomez, Danielle, Harris, Gerald, Hart, Tracy, Jain, Mahim, Krakow, Deborah, Krischer, Jeffrey, Orwoll, Eric, Nicol, Lindsey, Raggio, Cathleen, Smith, Peter, Tosi, Laura, Taqi, Doaa, Moussa, Hanan, Schwinghamer, Timothy, Ducret, Maxime, Dagdeviren, Didem, Retrouvey, Jean-Marc, Rauch, Frank, and Tamimi, Faleh

Published
2021
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18. Asprosin is a centrally acting orexigenic hormone

Author

Duerrschmid, Clemens, He, Yanlin, Wang, Chunmei, Li, Chia, Bournat, Juan C, Romere, Chase, Saha, Pradip K, Lee, Mark E, Phillips, Kevin J, Jain, Mahim, Jia, Peilin, Zhao, Zhongming, Farias, Monica, Wu, Qi, Milewicz, Dianna M, Sutton, V Reid, Moore, David D, Butte, Nancy F, Krashes, Michael J, Xu, Yong, and Chopra, Atul R

Subjects
Biomedical and Clinical Sciences, Nutrition and Dietetics, Adolescent, Adult, Animals, Appetite Depressants, Appetite Regulation, Female, Fibrillin-1, Humans, Hypothalamus, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Microfilament Proteins, Neurons, Peptide Fragments, Peptide Hormones, Rats, Signal Transduction, Young Adult, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences
Abstract

Asprosin is a recently discovered fasting-induced hormone that promotes hepatic glucose production. Here we demonstrate that asprosin in the circulation crosses the blood-brain barrier and directly activates orexigenic AgRP+ neurons via a cAMP-dependent pathway. This signaling results in inhibition of downstream anorexigenic proopiomelanocortin (POMC)-positive neurons in a GABA-dependent manner, which then leads to appetite stimulation and a drive to accumulate adiposity and body weight. In humans, a genetic deficiency in asprosin causes a syndrome characterized by low appetite and extreme leanness; this is phenocopied by mice carrying similar mutations and can be fully rescued by asprosin. Furthermore, we found that obese humans and mice had pathologically elevated concentrations of circulating asprosin, and neutralization of asprosin in the blood with a monoclonal antibody reduced appetite and body weight in obese mice, in addition to improving their glycemic profile. Thus, in addition to performing a glucogenic function, asprosin is a centrally acting orexigenic hormone that is a potential therapeutic target in the treatment of both obesity and diabetes.

Published
2017

20. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

Author

del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., and Ramón-Maiques, Santiago

Published
2020
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23. Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta: A cross-sectional study

Author

Lee, Brendan, Sutton, V. Reid, Nagamani, Sandesh C.S., Rauch, Frank, Glorieux, Francis, Retrouvey, Jean-Marc, Esposito, Paul, Wallace, Maegen, Bober, Michael B., Eyre, David, Gomez, Danielle, Harris, Gerald, Hart, Tracy, Jain, Mahim, Krakow, Deborah, Krischer, Jeffrey, Orwoll, Eric, Nicol, Lindsey, Raggio, Cathleen, Smith, Peter, Tosi, Laura, Najirad, Mohammadamin, Madathil, Sreenath Arekunnath, and Esfandiari, Shahrokh

Published
2020
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25. Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

Author

Murali, Chaya N., Cuthbertson, David, Slater, Brady, Nguyen, Dianne, Turner, Alicia, Harris, Gerald, Sutton, V. Reid, Lee, Brendan, Rauch, Frank, Glorieux, Francis, Retrouvey, Jean-Marc, Esposito, Paul, Rush, Eric, Bober, Michael, Eyre, David, Gomez, Danielle, Hart, Tracy, Jain, Mahim, Krakow, Deborah, Krischer, Jeffrey, Orwoll, Eric, Raggio, Cathleen, Smith, Peter, Tosi, Laura, and Nagamani, Sandesh C.

Published
2020
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26. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

Author

Berger, Kenneth I, Burton, Barbara K, Lewis, Gregory D, Tarnopolsky, Mark, Harmatz, Paul R, Mitchell, John J, Muschol, Nicole, Jones, Simon A, Sutton, V Reid, Pastores, Gregory M, Lau, Heather, Sparkes, Rebecca, and Shaywitz, Adam J

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Lung, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.7 Physical, 6.1 Pharmaceuticals, Cardiopulmonary exercise test, Elosulfase alfa, Endurance, Enzyme replacement therapy, Exercise capacity, Mucopolysaccharidosis IVA, Clinical sciences
Abstract

OBJECTIVE:To assess impact of a 52-week elosulfase alfa enzyme replacement therapy (ERT) on exercise capacity in Morquio A patients and analyze cardiorespiratory and metabolic function during exercise to uncover exercise limitations beyond skeletal abnormalities. METHODS:Morquio A patients aged ≥7 years, able to walk >200 m in the 6-minute walk test (6MWT), received elosulfase alfa 2.0 mg/kg/week (N = 15) or 4.0 mg/kg/week (N = 10) for 52 weeks in the randomized, double-blind MOR-008 study ( ClinicalTrials.gov NCT01609062) and its extension. Exercise capacity was assessed by 6MWT, 3-minute stair climb test (3MSCT), and cardiopulmonary exercise test (CPET; N = 15 dosage groups combined). RESULTS:Changes over 52 weeks in 6MWT and 3MSCT were minimal. Baseline CPET results showed impaired weight-adjusted peak oxygen uptake (VO2), partly attributable to inability to increase tidal volume during exercise. CPET measures of exercise function showed significant improvement at 25 and/or 52 weeks in exercise duration, peak workload, O2 pulse, and peak tidal volume (% increases in duration, 16.9 (P = 0.0045) and 9.4 (P = 0.0807); peak workload, 26.5 (P = 0.0026) and 21.2 (P = 0.0132); O2 pulse, 10.7 (P = 0.0187) and 2.3 (P = 0.643); peak tidal volume, 11.7 (P = 0.1117) and 29.1 (P = 0.0142)). In addition, decreased VO2/work ratio was noted (% decrease -7.6 [-11.9, 1.3] and -9.2 [-25.7, 5.1]), indicating performance of work at reduced oxygen cost. CONCLUSIONS:CPET uncovers limitation in exercise capacity in Morquio A related to reduced lung function. ERT improves exercise capacity and efficiency of oxygen utilization, not attributable to changes in cardiac or pulmonary function. Further study of the long-term impact of ERT on exercise capacity and the clinical relevance of the observed changes is warranted.

Published
2017

27. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

Author

Coban-Akdemir, Zeynep, primary, Song, Xiaofei, additional, Ceballos, Francisco C., additional, Pehlivan, Davut, additional, Karaca, Ender, additional, Bayram, Yavuz, additional, Mitani, Tadahiro, additional, Gambin, Tomasz, additional, Yozgatli, Tugce Bozkurt, additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Boerwinkle, Eric, additional, Hamosh, Ada, additional, Gibbs, Richard A., additional, Sutton, V. Reid, additional, Sobreira, Nara, additional, Carvalho, Claudia M.B., additional, Shaw, Chad A., additional, Posey, Jennifer E., additional, Valle, David, additional, and Lupski, James R., additional

Published
2024
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28. Asprosin, a Fasting-Induced Glucogenic Protein Hormone

Author

Romere, Chase, Duerrschmid, Clemens, Bournat, Juan, Constable, Petra, Jain, Mahim, Xia, Fan, Saha, Pradip K, Del Solar, Maria, Zhu, Bokai, York, Brian, Sarkar, Poonam, Rendon, David A, Gaber, M Waleed, LeMaire, Scott A, Coselli, Joseph S, Milewicz, Dianna M, Sutton, V Reid, Butte, Nancy F, Moore, David D, and Chopra, Atul R

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Liver Disease, Diabetes, Digestive Diseases, Aetiology, 1.1 Normal biological development and functioning, Underpinning research, 2.1 Biological and endogenous factors, Metabolic and endocrine, Adipose Tissue, White, Amino Acid Sequence, Animals, Antibodies, Circadian Rhythm, Cyclic AMP, Cyclic AMP-Dependent Protein Kinases, Fasting, Female, Fetal Growth Retardation, Fibrillin-1, Glucose, Humans, Insulin, Liver, Male, Mice, Mice, Inbred C57BL, Mice, Obese, Microfilament Proteins, Molecular Sequence Data, Peptide Fragments, Peptide Hormones, Progeria, Recombinant Proteins, Sequence Alignment, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

Hepatic glucose release into the circulation is vital for brain function and survival during periods of fasting and is modulated by an array of hormones that precisely regulate plasma glucose levels. We have identified a fasting-induced protein hormone that modulates hepatic glucose release. It is the C-terminal cleavage product of profibrillin, and we name it Asprosin. Asprosin is secreted by white adipose, circulates at nanomolar levels, and is recruited to the liver, where it activates the G protein-cAMP-PKA pathway, resulting in rapid glucose release into the circulation. Humans and mice with insulin resistance show pathologically elevated plasma asprosin, and its loss of function via immunologic or genetic means has a profound glucose- and insulin-lowering effect secondary to reduced hepatic glucose release. Asprosin represents a glucogenic protein hormone, and therapeutically targeting it may be beneficial in type II diabetes and metabolic syndrome.

Published
2016

29. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Author

White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Genomics, Baylor-Hopkins Center for Mendelian, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, and Carvalho, Claudia MB

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adaptor Proteins, Signal Transducing, Alleles, Base Sequence, Codon, Nonsense, Craniofacial Abnormalities, Dishevelled Proteins, Dwarfism, Exons, Female, Frameshift Mutation, Genetic Variation, Humans, Limb Deformities, Congenital, Male, Molecular Sequence Data, Phosphoproteins, Proto-Oncogene Proteins, Receptor Tyrosine Kinase-like Orphan Receptors, Sequence Analysis, DNA, Sequence Deletion, Urogenital Abnormalities, Wnt Proteins, Wnt-5a Protein, Baylor-Hopkins Center for Mendelian Genomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.

Published
2016

30. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

Author

White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Baylor-Hopkins Center for Mendelian Genomics, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, and Carvalho, Claudia MB

Subjects
Baylor-Hopkins Center for Mendelian Genomics, Humans, Dwarfism, Craniofacial Abnormalities, Limb Deformities, Congenital, Urogenital Abnormalities, Adaptor Proteins, Signal Transducing, Proto-Oncogene Proteins, Phosphoproteins, Codon, Nonsense, Sequence Analysis, DNA, Sequence Deletion, Base Sequence, Frameshift Mutation, Alleles, Exons, Molecular Sequence Data, Female, Male, Wnt Proteins, Genetic Variation, Receptor Tyrosine Kinase-like Orphan Receptors, Wnt-5a Protein, Dishevelled Proteins, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.

Published
2016

31. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study

Author

Burton, Barbara K, Berger, Kenneth I, Lewis, Gregory D, Tarnopolsky, Mark, Treadwell, Marsha, Mitchell, John J, Muschol, Nicole, Jones, Simon A, Sutton, V Reid, Pastores, Gregory M, Lau, Heather, Sparkes, Rebecca, Genter, Fred, Shaywitz, Adam J, and Harmatz, Paul

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Cardiovascular, Physical Activity, Clinical Trials and Supportive Activities, Pain Research, Clinical Research, 6.1 Pharmaceuticals, Adolescent, Adult, Child, Chondroitinsulfatases, Double-Blind Method, Drug Administration Schedule, Enzyme Replacement Therapy, Exercise Test, Female, Heart Function Tests, Humans, Keratan Sulfate, Male, Mucopolysaccharidosis IV, Muscle Strength, Patient Safety, Pilot Projects, Recombinant Proteins, Respiratory Function Tests, Treatment Outcome, Walking, mucopolysaccharidosis IV, cardiopulmonary exercise test, safety, respiratory function tests, muscle strength, physical endurance, GALNS protein, human [supplementary concept], enzyme replacement therapy, Genetics, Clinical sciences
Abstract

The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented. Patients aged ≥7 years and able to walk ≥200 m in the 6-min walk test (6MWT) were randomized to elosulfase alfa 2.0 or 4.0 mg/kg/week for 27 weeks. The primary objective was to evaluate the safety of both doses. Secondary objectives were to evaluate effects on endurance (6MWT and 3-min stair climb test [3MSCT]), exercise capacity (cardio-pulmonary exercise test [CPET]), respiratory function, muscle strength, cardiac function, pain, and urine keratan sulfate (uKS) levels, and to determine pharmacokinetic parameters. Twenty-five patients were enrolled (15 randomized to 2.0 mg/kg/week and 10 to 4.0 mg/kg/week). No new or unexpected safety signals were observed. After 24 weeks, there were no improvements versus baseline in the 6MWT, yet numerical improvements were seen in the 3MSCT with 4.0 mg/kg/week. uKS and pharmacokinetic data suggested no linear relationship over the 2.0-4.0 mg/kg dose range. Overall, an abnormal exercise capacity (evaluated in 10 and 5 patients in the 2.0 and 4.0 mg/kg/week groups, respectively), impaired muscle strength, and considerable pain were observed at baseline, and there were trends towards improvements in all domains after treatment. In conclusion, preliminary data of this small study in a Morquio A population with relatively good endurance confirmed the acceptable safety profile of elosulfase alfa and showed a trend of increased exercise capacity and muscle strength and decreased pain.

Published
2015

32. Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V

Author

Bober, Michael, Esposito, Paul, Eyre, David R., Gomez, Danielle, Harris, Gerald, Hart, Tracy, Jain, Mahim, Krisher, Jeffrey, Nagamani, Sandesh CS., Orwoll, Eric S., Raggio, Cathleen L., Rush, Eric, Smith, Peter, Tosi, Laura, Rauch, Frank, Retrouvey, Jean-Marc, Taqi, Doaa, Tamimi, Faleh, Dagdeviren, Didem, Glorieux, Francis H., Lee, Brendan, Hazboun, Renna, Krakow, Deborah, and Sutton, V. Reid

Published
2019
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34. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Author

Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Barelle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D’Alessandro, P.M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L. Gomes, Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O’Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Proctor, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweiger, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E., Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., and FitzPatrick, David R.

Published
2019
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35. A Genocentric Approach to Discovery of Mendelian Disorders

Author

Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Nicholas, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Hansen, Adam W., Murugan, Mullai, Li, He, Khayat, Michael M., Wang, Liwen, Rosenfeld, Jill, Andrews, B. Kim, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Sedlazeck, Fritz J., Ashley-Koch, Allison E., Liu, Pengfei, Muzny, Donna M., Sabo, Aniko, Posey, Jennifer E., Yang, Yaping, Wangler, Michael F., Eng, Christine M., Sutton, V. Reid, Lupski, James R., Boerwinkle, Eric, and Gibbs, Richard A.

Published
2019
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36. Mobility in osteogenesis imperfecta: a multicenter North American study

Author

Kruger, Karen M., Caudill, Angela, Rodriguez Celin, Mercedes, Nagamani, Sandesh C.S., Shapiro, Jay R., Steiner, Robert D., Bober, Michael B., Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Byers, Peter H., Durigova, Michaela, Glorieux, Francis H., Rauch, Frank, Sutton, V. Reid, Lee, Brendan, Rush, Eric T., Smith, Peter A., and Harris, Gerald F.

Published
2019
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38. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Author

Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., and Lupski, James R.

Published
2019
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39. Insights into genetics, human biology and disease gleaned from family based genomic studies

Author

Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M.B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, and Lupski, James R.

Published
2019
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40. TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

Author

Shen, J, Chen, Y, Zhang, T, Zhang, J, Choy, K, Wang, J, Wang, Q, Li, S, Zhou, W, Guo, J, Wang, Y, Zhang, C, Zhao, Hong, An, Yu, Zhao, Yu, Liu, Z, Zuo, Y, Tian, Y, Weng, X, Sutton, V, Wang, H, Ming, Y, Kulkarni, S, Zhong, T, Giampietro, P, Dunwoodie, S, Cheung, S, Zhang, X, Jin, L, Lupski, J, Qiu, G, Zhang, F, Wu, N, Ming, X, Xiao, J, Wu, Z, Chen, X, Shinawi, M, Shen, Y, Yu, G, Liu, J, Xie, H, Gucev, Z, Liu, S, Yang, N, Al-Kateb, H, Chen, J, Hauser, N, Tasic, V, Liu, P, Su, X, Pan, X, Liu, C, Wang, L, and Shen, Joseph

Subjects
Adolescent, Asian People, Child, Child, Preschool, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Mutation, Pedigree, Phenotype, Radiography, Scoliosis, Sequence Deletion, Spine, T-Box Domain Proteins
Abstract

BACKGROUND: Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS: We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multicenter series of 42 persons with 16p11.2 deletions. RESULTS: We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P

Published
2015

41. Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.

Author

Glinton, Kevin E., Gijavanekar, Charul, Rajagopal, Abbhirami, Mackay, Laura P., Martin, Kirt A., Pearl, Phillip L., Gibson, K. Michael, Wilson, Theresa A., Sutton, V. Reid, and Elsea, Sarah H.

Subjects
SUCCINATE dehydrogenase, FAMILY support, SLEEP interruptions, GABA, DIAGNOSIS, ACETYLCOENZYME A
Abstract

Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being overlooked as potentially causative, particularly in individuals with undifferentiated phenotypes. Consequently, many neurometabolic conditions, including those in theGABA (gamma-aminobutyric acid) catabolism pathway, are underdiagnosed. Succinic semialdehyde dehydrogenase deficiency (SSADHD, OMIM #271980) is a neurometabolic disorder in the GABA catabolism pathway. The disorder is due to bi-allelic pathogenic variants in ALDH5A1 and is usually characterized by moderate-to-severe developmental delays, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, psychiatric disorders, and sleep disturbances. In this study, we utilized an integrated approach to diagnosis of SSADHD by examining molecular, clinical, and metabolomic data from a single large commercial laboratory. Our analysis led to the identification of 16 patients with likely SSADHDalongwith three novel variants. We also showed that patients with this disorder have a clear metabolomic signature that, along with molecular and clinical findings, may allow for more rapid and efficient diagnosis. We further surveyed all available pathogenic/likely pathogenic variants and used this information to estimate the global prevalence of this disease. Taken together, our comprehensive analysis allows for a global approach to the diagnosis of SSADHD and provides a pathway to improved diagnosis and potential incorporation into newborn screening programs. Furthermore, early diagnosis facilitates referral to genetic counseling, family support, and access to targeted treatments-taken together, these provide the best outcomes for individuals living with either GABA-TD or SSADHD, as well as other rare conditions. [ABSTRACT FROM AUTHOR]

Published
2024
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42. Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency”

Author

Rahhal, Samar, primary, Farmer, Cristan, additional, Thurm, Audrey, additional, Wassif, Christopher A., additional, Cawley, Niamh X., additional, Perreault, John, additional, Dang Do, An, additional, Bianconi, Simona, additional, Hannah-Shmouni, Fady, additional, Guthrie, Whitney, additional, Cubit, Laura S., additional, Miller, Judith S., additional, Sutton, V. Reid, additional, Koeberl, Dwight, additional, and Porter, Forbes D., additional

Published
2023
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43. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

Author

Berger, Kenneth I., Burton, Barbara K., Lewis, Gregory D., Tarnopolsky, Mark, Harmatz, Paul R., Mitchell, John J., Muschol, Nicole, Jones, Simon A., Sutton, V. Reid, Pastores, Gregory M., Lau, Heather, Sparkes, Rebecca, Shaywitz, Adam J., Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor

Published
2018
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45. Antiplatelet therapy with aspirin, clopidogrel, and dipyridamole versus clopidogrel alone or aspirin and dipyridamole in patients with acute cerebral ischaemia (TARDIS): a randomised, open-label, phase 3 superiority trial

Author

Christensen, L M, Bentsen, L, Krarup Hansen, C, Thomsen, T T, Kruuse, C, Jensen, H H, Hansen, S S, Petrovic, V, Beridze, N, Kakabadze, N, Kherkheulidze, T, Kakabadze, D, Toidze, I, Lobjanidze, N, Akiashvili, N, Tevdoradze, A, Khizanishvili, N, Tsanava, T, Taylor, R, Iniesta, I, Kok, J, Duignan, J, Funnell, M, Cariga, P, Rodriguez, M, Watson, I J, Tennant, S, Macleod, M, Furnace, J, Gow, H, Irvine, J, Joyson, A, Nelson, S, Taylor, V, Smith, M, Bellfield, R, Hairsine, B, Davies, R, Dodd, A, Corrigan, J, Doherty, M, Ahmed, A, Denniss, C, Johnson-Holland, S, Kay, K A, Palau, R Icart, Auld, G, Daboo, P, Erande, R, Grimwood, G, Hove, D, Howaniec, L, Redjep, O, Rangasamay, R, Butt, G, Sandler, D, Reddan, J, Stafford, S, McIlmoyle, J, Maguire, S, Murphy, P, Chambers, J, Guthrie, L, Osborn, M, Steele, A, Burn, M, Benford, A, Misra, A, Hilton, D, O'Brien, E, Amis, E, Finlay, S, Mitchell, J, Geraghty, O, Harvey, K, Hazel, B, Mashate, S, Wilding, P, Sajid, M, Ball, M, Gascoyne, R, Sivakumar, R, Wright, A, Chatterjee, K, Booth, S, Eccleson, H, Kelly, C, Leason, S, Perkins, C, Bruce, D, Brown, E, Clayton, S, Garside, M, Rogers, G, Lawrence, E, Mahmood, S, Watchurst, C, Chadha, D, Glover, L, Holford, L, Smith, K, Walstow, D, Williams, R, O'Shea, L, Goodsell, J, Athulathmudali, C, Barbon, E, Namushi, R, Jacob, P, Johnson, L, Morse, D, McGhee, C, Speirs, O, Atkinson, S, Peacocke, A, Langhorne, P, Graham, R, Wright, F, McAlpine, C, Ravindrane, A, Bajoriene, M, Matter, L, Windebank, S, Giallombardo, E, Dellafera, D, Eglinton, C, Wilson, J, Broughton, D, Chapman, K, Dixon, L, Zaidi, M, Ayes, K, Kessell, J, Manawadu, D, Adegbaju, O, Aeron-Thomas, J, Anderson, K, Brigden, A, Cattermole, E, Good, J, Hassan, S, Khoromana, E, Lee-Carbon, L, Marks, K, Mckenzie, E, Sikondari, N, Cooper, M, Whysall, K, Wynter, I, Bamford, J, Hassan, A, Wanklyn, P, Kambafwile, M, Makawa, L, Waugh, D, Veraque, E, Soliman, MGG, Arif, S, Brown, R, Butler, S, Hewitt, C, Hindle, J, Pusalkar, A, Beadle, H, Chan, K, Siddiqui, M, Dangri, P, Buddha, S, Asokanathan, A, Mistri, A, Eveson, D, Musarrat, K, Manning, L, Anand, S, Christian, P, Khan, S, Patel, C, Sein, M, Banns, J, Gibson, E, Gordon, T, Gruenbeck, Y, Wong, S, Datta, P, Bateman, G, Jackson, L, Needle, A, Duodu, Y, Oliver, R, Padilla-Harris, C, Barber, M, Esson, D, Brodie, F, McInnes, C, Fotherby, K, Butler, D, Morgan, D, Preece, K, Willberry, A, Dent, M, Hammonds, F, Hunt, J, Vernon, C, O'Kane, D, Faola, F, Lai, P, O'Callaghan, J, Smith, C, Price, C, Lakey, R, Riddell, V, Smith, A, Storey, G, Munshi, S, Buck, A, Clarke, J, Gilzeane, N, Godfrey, M, Keshvara, R, Richardson, C, Roffe, J, Ryan, L, Shelton, F, Sunman, W, Tittle, A, Tomlinson, J, Whittamore, K, Wilkes, G, Owusu-Agyei, P, Temple, N, Mangion, D, Hardwick, A, Netherton, K, Nor, A Mohd, Hyams, B, Norman, S, Persad, N, Ragab, S, Dickson, C, Dube, J, Jinks, E, Knops, K, Wadams, B, Ali, K, Gaylard, J, Spurling, G, Sztriha, L, Ajao, T, Alao, M, Chan, F K, Webster, P, Howard, P, Dobson, T J, Hyatt, L, Sims, D, Cunningham, J, Esisi, B, Cassidy, T, Bokhari, M, McClelland, B, Mokoena, B, Gunathilagan, G, Jones, S, Reader, M, Thomas, G, Tilby, S, Findlay, P, Barrett, F, Leslie, F, Ross, S, Shread, I, Okwera, J, Howe, J, Harrington, F, Courtauld, G, Schofield, C, Donnelly, R, Maddula, M, Scott, J, Beavan, J, Muhidden, K, Memon, I, Clarke, M, Hedstrom, A, Mills, L, Hemsley, A, Bowring, A, Boxall, L, Kingwell, H, Keenan, S, Roughan, C, Manoj, A, Cox, P, Fletcher, G, Lopez, P, Emsley, H, Gregary, B, McLoughlin, A, Raj, S, Roffe, C, Abano, N, Barry, A, Butler, A, Carpio, R, Castro, K, Finney, K, Gomm, S, Hiden, J, Grocott, J, Lyjko, S, Maguire, H, Remegoso, A, Sanyal, R, Stevens, S, Natarajan, I, Chembala, J, Muddegowda, G, Warusevitane, A, Blight, A, Balazikova, O, Lawlor, C, Shaw, L, Button, D, Howcroft, D, Lucas, S, Madigan, B, McCann, S, Dixit, A, Barkat, A, Davis, J, Fawcett, M, Finlay, L, Guy, H, Hays, C, Hogg, V, Horsley, E, Hubbuck, C, Pringle, C, Stevenson, C, Storey, K, Thompson, T, Woodward, S, Banerjee, A, Allcock, C, Merotra, S, Douglass, C, Campbell, E, Jarapa, R, Johnes, M, Keaveney, C, Marsden, T, Naing, Z, Perez, J, Shaw, K, Black, T, Anthony, A, Clarke, C, Paterson, J, Deighton, K, Temlett, E, Blank, C, Doyle, C, Duty, S, Gill, K, Harkness, K, Kamara, C, Richards, E, Elfandi, K, Guyler, P, Harman, P, Khuoge, C, Kunhunny, S, Tysoe, S, Moynihan, B, Adedoyin, T, Chopra, N, Dayal, N, Ghatala, R, Jeyaraj, N, Jones, I, Kennedy, F, Kerin, L, Khanom, N, Lewis, S, Maheswaran, S, Montague, L, Niemierko, M, O'Reilly, J, Trippier, S, Watson, F, Wilkinson, P, Young, E, Dizayee, K, Cochrane, H, O'Connell, J, Mokoena, L, Osborne, E, Nair, A, Greig, J, Jenkins, C, Powell, J, Price, F, Chowdhury, M, Brixey, S, Hunt, L, Rands, N, Rose, G, Stoddart, S, Srinivasan, M, Motherwell, N, Shekhar, R, Fuller, T, Lankester, A, Lingwood, P, Rankin, C, Webb, H, Jupp, B, Bell, J, Hann, G, Longland, B, Ovington, C, Bhaskaran, B, Ayres, G, Bailey, C, Bearne, H, Buxton, J, Fitzell, P, Hilaire, C, Kelly, D, Szabo, S, Tomlin, D, Gamble, E, Charles, B, Kumar, R, Fluskey, T, Mellor, Z, Peters, J, Sutton, V, Kenton, A, Martin, I, Nyabadza, S, Ghosh, S, Henry, M, Kumar, B, Ambulo, C, Crawford, S, Nozedar, T, Platton, M, Cvoro, V, Couser, M, McCormick, K, Wilkinson, D, Javaid, K, Hurdowar, S, Attygalle, T, Sundayi, S, Orugun, O, Crowther, H, Jolly, R, Poultney, U, Azim, A, Krasinska-Chavez, M, White, J, Sengupta, N, Margalef, J, Metiu, M G, Meenakshisundaram, S, Dealing, S, Hargroves, D, Beranova, E, Cowie, L, Rudenko, H, Thomson, A, Verrion, A, Rashed, K, Board, S, Buckley, C, Hayward, D, Jenkins, K, Keeling, E, Rowland-Axe, R, Vickers, C, Wood, D, Lehman, A, Patel, M, Russell, H, Rehman, H, Forrest, D, Farren, P, Bath, Philip M, Woodhouse, Lisa J, Appleton, Jason P, Beridze, Maia, Christensen, Hanne, Dineen, Robert A, Duley, Lelia, England, Timothy J, Flaherty, Katie, Havard, Diane, Heptinstall, Stan, James, Marilyn, Krishnan, Kailash, Markus, Hugh S, Montgomery, Alan A, Pocock, Stuart J, Randall, Marc, Ranta, Annemarei, Robinson, Thompson G, Scutt, Polly, Venables, Graham S, and Sprigg, Nikola

Published
2018
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47. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Author

White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., and Carvalho, Claudia M.B.

Published
2018
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48. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine

Author

Cappuccio, Gerarda, Atwal, Paldeep S., Donti, Taraka R., Ugarte, Kiki, Merchant, Nadia, Craigen, William J., Sutton, V. Reid, Elsea, Sarah H., Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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