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1. Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

Author

Meester, Josephina A. N., Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Hartill, Verity, Houweling, Arjan C., Isidor, Bertrand, Jackson, Nicola, Koopman, Pieter, Korpioja, Anita, Kraatari-Tiri, Minna, Kuulavainen, Liina, Lee, Kelvin, Low, Karen J., Lu, Alan C., McManus, Morgan L., Oakley, Stephen P., Oliver, James, Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Trainer, Alison H., Trivedi, Bhavya, Turner, Claire L. S., Whittington, Rebecca, Zankl, Andreas, Zentner, Dominica, Van Laer, Lut, Verstraeten, Aline, and Loeys, Bart L.

Published
2024
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2. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Author

Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez‐Lara, Pedro A, Del Campo, Miguel, Jones, Marilyn C, Abdul‐Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary‐Alice, Allain, Dawn C, Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K, Johnson, Amy E Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell‐Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, and Falk, Marni J

Subjects
Congenital Structural Anomalies, Clinical Research, Brain Disorders, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Black People, Constipation, Failure to Thrive, Genetic Association Studies, Genetic Predisposition to Disease, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Hypertrichosis, Intellectual Disability, Loss of Function Mutation, Myeloid-Lymphoid Leukemia Protein, Retrospective Studies, White People, hypertrichosis, KMT2A, MLL1, syndromic intellectual disability, syndromic short stature, Wiedemann&#8208, Steiner syndrome, Wiedemann-Steiner syndrome, Genetics, Clinical Sciences
Abstract

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.

Published
2021

5. Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up

Author

Campbell, Ian M, primary, Karavite, Dean J, additional, Mcmanus, Morgan L, additional, Cusick, Fred C, additional, Junod, David C, additional, Sheppard, Sarah E, additional, Lourie, Eli M, additional, Shelov, Eric D, additional, Hakonarson, Hakon, additional, Luberti, Anthony A, additional, Muthu, Naveen, additional, and Grundmeier, Robert W, additional

Published
2023
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6. Clinical Decision Support with a Comprehensive in-EHR Patient Tracking System Improves Genetic Testing Follow Up

Author

Campbell, Ian M., primary, Karavite, Dean J., additional, McManus, Morgan L., additional, Cusick, Fred C., additional, Junod, David C., additional, Sheppard, Sarah E., additional, Lourie, Eli M., additional, Shelov, Eric D., additional, Hakonarson, Hakon, additional, Luberti, Anthony A., additional, Muthu, Naveen, additional, and Grundmeier, Robert W., additional

Published
2023
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8. Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Author

Priestley, Jessica R.C., primary, Pace, Lisa M., additional, Sen, Kuntal, additional, Aggarwal, Anjali, additional, Alves, Cesar Augusto P.F., additional, Campbell, Ian M., additional, Cuddapah, Sanmati R., additional, Engelhardt, Nicole M., additional, Eskandar, Marina, additional, Jolín García, Paloma C., additional, Gropman, Andrea, additional, Helbig, Ingo, additional, Hong, Xinying, additional, Gowda, Vykuntaraju K., additional, Lusk, Laina, additional, Trapane, Pamela, additional, Srinivasan, Varunvenkat M., additional, Suwannarat, Pim, additional, and Ganetzky, Rebecca D., additional

Published
2022
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10. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression

Author

Campbell, Ian M., primary, Crowley, T. Blaine, additional, Jobaliya, Chintan, additional, Bailey, Alice, additional, McGinn, Daniel E., additional, Gaiser, Kimberly, additional, Bassett, Anne, additional, Gur, Raquel E., additional, Morrow, Bernice, additional, Emanuel, Beverly S., additional, Franco, Aime T., additional, French, Deborah, additional, Zackai, Elaine H., additional, McDonald‐McGinn, Donna M., additional, and Lambert, Michele P., additional

Published
2022
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12. Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( CDH +) using DECIPHER data

Author

Hardcastle, Amy, primary, Berry, Aliska M., additional, Campbell, Ian M., additional, Zhao, Xiaonan, additional, Liu, Pengfei, additional, Gerard, Amanda E., additional, Rosenfeld, Jill A., additional, Sisoudiya, Saumya D., additional, Hernandez‐Garcia, Andres, additional, Loddo, Sara, additional, Di Tommaso, Silvia, additional, Novelli, Antonio, additional, Dentici, Maria L., additional, Capolino, Rossella, additional, Digilio, Maria C., additional, Graziani, Ludovico, additional, Rustad, Cecilie F., additional, Neas, Katherine, additional, Ferrero, Giovanni B., additional, Brusco, Alfredo, additional, Di Gregorio, Eleonora, additional, Wellesley, Diana, additional, Beneteau, Claire, additional, Joubert, Madeleine, additional, Van Den Bogaert, Kris, additional, Boogaerts, Anneleen, additional, McMullan, Dominic J., additional, Dean, John, additional, Giuffrida, Maria G., additional, Bernardini, Laura, additional, Varghese, Vinod, additional, Shannon, Nora L., additional, Harrison, Rachel E., additional, Lam, Wayne W. K., additional, McKee, Shane, additional, Turnpenny, Peter D., additional, Cole, Trevor, additional, Morton, Jenny, additional, Eason, Jacqueline, additional, Jones, Marilyn C., additional, Hall, Rebecca, additional, Wright, Michael, additional, Horridge, Karen, additional, Shaw, Chad A., additional, Chung, Wendy K., additional, and Scott, Daryl A., additional

Published
2022
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13. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

Author

Szigety, Katherine M., primary, Crowley, Terrence B., additional, Gaiser, Kimberly B., additional, Chen, Erin Y., additional, Priestley, Jessica R.C., additional, Williams, Lydia S., additional, Rangu, Sneha A., additional, Wright, Christina M., additional, Adusumalli, Priyanka, additional, Ahrens-Nicklas, Rebecca C., additional, Calderon, Brandon, additional, Cuddapah, Sanmati R., additional, Edmondson, Andrew, additional, Ficicioglu, Can, additional, Ganetzky, Rebecca, additional, Kalish, Jennifer M., additional, Krantz, Ian D., additional, McDonald-McGinn, Donna M., additional, Medne, Livija, additional, Muraresku, Colleen, additional, Pyle, Louise C., additional, Zackai, Elaine H., additional, Campbell, Ian M., additional, and Sheppard, Sarah E., additional

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

Author

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

Published
2022
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15. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.

Author

Campbell, Ian M., Crowley, T. Blaine, Jobaliya, Chintan, Bailey, Alice, McGinn, Daniel E., Gaiser, Kimberly, Bassett, Anne, Gur, Raquel E., Morrow, Bernice, Emanuel, Beverly S., Franco, Aime T., French, Deborah, Zackai, Elaine H., McDonald‐McGinn, Donna M., and Lambert, Michele P.

Subjects
*DIGEORGE syndrome, *MEAN platelet volume, *BLOOD platelets, *IDIOPATHIC thrombocytopenic purpura, *CONGENITAL heart disease, *PLATELET count, *THYROID hormone receptors, *THROMBOPOIETIN receptors
Abstract

Prior studies have demonstrated that patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts (PC) compared to non‐deleted populations. They also have an increased mean platelet volume. The mechanism for this has been postulated to be haploinsufficiency of the GPIBB gene. We examined platelet parameters, deletion size and factors known to influence counts, including status of thyroid hormone and congenital heart disease (CHD), in a population of 825 patients with 22q11.2DS. We also measured surface expression of GPIB‐IX complex by flow cytometry. The major determinant of PC was deletion status of GP1BB, regardless of surface expression or other factors. Patients with nested distal chromosome 22q11.2 deletions (those with GP1BB present) had higher PCs than those with proximal deletions where GP1BB is deleted. Patients with 22q11.2DS also demonstrated an accelerated PC decrease with age, occurring in childhood. These data demonstrate that genes within the proximal deletion segment drive PC differences in 22q11.2DS and suggest that PC reference ranges may need to be adjusted for age and deletion size in 22q11.2DS populations. Bleeding did not correlate with either platelet count or GPIb expression. Further studies into drivers of expression of GPIb and associations with severe thrombocytopenia and immune thrombocytopenia are needed to inform clinical care. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Author

Hardcastle, Amy, Berry, Aliska M., Campbell, Ian M., Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E., Rosenfeld, Jill A., Sisoudiya, Saumya D., Hernandez‐Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L., Capolino, Rossella, Digilio, Maria C., Graziani, Ludovico, Rustad, Cecilie F., Neas, Katherine, Ferrero, Giovanni B., and Brusco, Alfredo

Abstract

Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting CREBBP, SMARCA4, UBA2, and USP9X. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similarity to known CDH genes using data from a previously published and validated machine learning algorithm, and/or the presence of CDH in other individuals with their associated genetic disorders. Our results demonstrate how data from DECIPHER, and other public databases, can be used to identify new phenotypic expansions and suggest that CREBBP, SMARCA4, UBA2, and USP9X play a role in diaphragm development. [ABSTRACT FROM AUTHOR]

Published
2022
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30. Recurrent HERV-H-Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Author

Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester W., Beck, Christine R., Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, Britt J., Stankiewicz, Paweł, and Rosenfeld, Jill A.

Published
2013
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31. Supplemental_Digital_Table_1 – Supplemental material for A Not So Common Infection in an Extremely Low-Birth-Weight Infant

Author

Campbell, Ian M., Congdon, Morgan, Capucilli, Peter S., and Fox, William W.

Subjects
FOS: Clinical medicine, 111403 Paediatrics, humanities
Abstract

Supplemental material, Supplemental_Digital_Table_1 for A Not So Common Infection in an Extremely Low-Birth-Weight Infant by Ian M. Campbell, Morgan Congdon, Peter S. Capucilli and William W. Fox in Clinical Pediatrics

Published
2020
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35. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

Author

Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Pengfei Liu, Shaw, Chad A., Rosenfeld, Jill A., and Scott, Daryl A.

Abstract

Background Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that often co-occurs with non-hernia-related anomalies (CDH+). While copy number variant (CNV) analysis is often employed as a diagnostic test for CDH+, clinical exome sequencing (ES) has not been universally adopted. Methods We analysed a clinical database of ~12 000 test results to determine the diagnostic yields of ES in CDH+ and to identify new phenotypic expansions. Results Among the 76 cases with an indication of CDH+, a molecular diagnosis was made in 28 cases for a diagnostic yield of 37% (28/76). A provisional diagnosis was made in seven other cases (9%; 7/76). Four individuals had a diagnosis of Kabuki syndrome caused by frameshift variants in KMT2D. Putatively deleterious variants in ALG12 and EP300 were each found in two individuals, supporting their role in CDH development. We also identified individuals with de novo pathogenic variants in FOXP1 and SMARCA4, and compound heterozygous pathogenic variants in BRCA2. The role of these genes in CDH development is supported by the expression of their mouse homologs in the developing diaphragm, their high CDH-specific pathogenicity scores generated using a previously validated algorithm for genome-scale knowledge synthesis and previously published case reports. Conclusion We conclude that ES should be ordered in cases of CDH+ when a specific diagnosis is not suspected and CNV analyses are negative. Our results also provide evidence in favour of phenotypic expansions involving CDH for genes associated with ALG12-congenital disorder of glycosylation, Rubinstein-Taybi syndrome, Fanconi anaemia, Coffin-Siris syndrome and FOXP1-related disorders. [ABSTRACT FROM AUTHOR]

Published
2022
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38. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

Author

Campbell, Ian M., primary, Sheppard, Sarah E., additional, Crowley, T. Blaine, additional, McGinn, Daniel E., additional, Bailey, Alice, additional, McGinn, Michael J., additional, Unolt, Marta, additional, Homans, Jelle F., additional, Chen, Erin Y., additional, Salmons, Harold I., additional, Gaynor, J. William, additional, Goldmuntz, Elizabeth, additional, Jackson, Oksana A., additional, Katz, Lorraine E., additional, Mascarenhas, Maria R., additional, Deeney, Vincent F. X., additional, Castelein, René M., additional, Zur, Karen B., additional, Elden, Lisa, additional, Kallish, Staci, additional, Kolon, Thomas F., additional, Hopkins, Sarah E., additional, Chadehumbe, Madeline A., additional, Lambert, Michele P., additional, Forbes, Brian J., additional, Moldenhauer, Julie S., additional, Schindewolf, Erica M., additional, Solot, Cynthia B., additional, Moss, Edward M., additional, Gur, Raquel E., additional, Sullivan, Kathleen E., additional, Emanuel, Beverly S., additional, Zackai, Elaine H., additional, and McDonald-McGinn, Donna M., additional

Published
2018
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39. Cover Image, Volume 176A, Number 10, October 2018

Author

Campbell, Ian M., primary, Sheppard, Sarah E., additional, Crowley, T. Blaine, additional, McGinn, Daniel E., additional, Bailey, Alice, additional, McGinn, Michael J., additional, Unolt, Marta, additional, Homans, Jelle F., additional, Chen, Erin Y., additional, Salmons, Harold I., additional, Gaynor, J. William, additional, Goldmuntz, Elizabeth, additional, Jackson, Oksana A., additional, Katz, Lorraine E., additional, Mascarenhas, Maria R., additional, Deeney, Vincent F. X., additional, Castelein, René M., additional, Zur, Karen B., additional, Elden, Lisa, additional, Kallish, Staci, additional, Kolon, Thomas F., additional, Hopkins, Sarah E., additional, Chadehumbe, Madeline A., additional, Lambert, Michele P., additional, Forbes, Brian J., additional, Moldenhauer, Julie S., additional, Schindewolf, Erica M., additional, Solot, Cynthia B., additional, Moss, Edward M., additional, Gur, Raquel E., additional, Sullivan, Kathleen E., additional, Emanuel, Beverly S., additional, Zackai, Elaine H., additional, and McDonald-McGinn, Donna M., additional

Published
2018
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40. Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Author

Walters, Michelle E., Lacassie, Yves, Azamian, Mahshid, Franciskovich, Rachel, Zapata, Gladys, Hernandez, Patricia P., Liu, Pengfei, Campbell, Ian M., Bostwick, Bret L., and Lalani, Seema R.

Abstract

ALX4 is a homeobox gene expressed in the mesenchyme of developing bone and is known to play an important role in the regulation of osteogenesis. Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bones due to variants of ALX4. The contrasting phenotype of premature ossification of sutures is observed with heterozygous loss‐of‐function variants of TWIST1, which is an important regulator of osteoblast differentiation. Here, we describe an individual with a large cranium defect, with dominant transmission from the mother, both carrying disease causing heterozygous variants in ALX4 and TWIST1. The distinct phenotype of absent superior and posterior calvarium in the child and his mother was in sharp contrast to the other affected maternal relatives with a recognizable ALX4‐related EPF phenotype. This report demonstrates comorbid disorders of Saethre‐Chotzen syndrome and EPF in a mother and her child, resulting in severe skull defects reminiscent of calvarial abnormalities observed with bilallelic ALX4 variants. To our knowledge this is the first instance of ALX4 and TWIST1 variants acting synergistically to cause a unique phenotype influencing skull ossification. [ABSTRACT FROM AUTHOR]

Published
2021
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41. A Case of Prenatally Diagnosed Periventricular Nodular Heterotopia in a Surviving Male Patient with FLNA Mutation.

Author

Tencer, Jaclyn, Virupakshaiah, Akash, Campbell, Ian M., Zackai, Elaine H., Zarnow, Deborah, and Agarwal, Sonika

Subjects
NERVOUS system abnormalities, GENETIC mutation, MICROFILAMENT proteins, GENE expression
Abstract

FLNA is a gene on the X chromosome that encodes Filamin A, a widely expressed protein crucial for forming the cell cytoskeleton and mediating cell signaling. Loss-of-function mutations have been associated with periventricular nodular heterotopia (PVNH) with associated epilepsy and intellectual deficits, as well as cardiovascular disease, connective tissue disorders, pulmonary disease, bleeding diathesis, and gastrointestinal disease. Alternatively, gain-of-function mutations have been described with otopalatodigital spectrum disorders. The loss-of-function variants of FLNA associated with PVNH have historically been considered lethal in males, often prenatally or by the first year of life. However, more surviving males with FLNA variants are being described. Most of the surviving males have missense or distal truncating mutations or a degree of mosaicism. Others are thought to have splice site mutations or in-frame exon skipping leading to production of some degree of functional Filamin A as possible mechanisms of survival. Here, we presented a case of a 20-month-old small but developmentally appropriate and healthy male infant who was prenatally diagnosed with PVNH, and postnatally found to have a nonsense variant of the FLNA gene. This mutation has not been previously clinically described or published to our knowledge. [ABSTRACT FROM AUTHOR]

Published
2022
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42. A Factorial Analysis of BDI Scores.

Author

Campbell, Ian M.

Abstract

Undertook a factorial analysis of the Beck Depression Inventory (BDI), on a sample of male cardiac outpatients (N=214) to investigate whether the BDI factor structure is dependent on the range of BDI scores selected. Results indicated that, in general, the subgroups' factor structures provided no clear interpretation. (LLL)

Published
1984

46. An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Author

Liu, Pengfei, primary, Yuan, Bo, additional, Carvalho, Claudia M.B., additional, Wuster, Arthur, additional, Walter, Klaudia, additional, Zhang, Ling, additional, Gambin, Tomasz, additional, Chong, Zechen, additional, Campbell, Ian M., additional, Coban Akdemir, Zeynep, additional, Gelowani, Violet, additional, Writzl, Karin, additional, Bacino, Carlos A., additional, Lindsay, Sarah J., additional, Withers, Marjorie, additional, Gonzaga-Jauregui, Claudia, additional, Wiszniewska, Joanna, additional, Scull, Jennifer, additional, Stankiewicz, Paweł, additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Zhang, Feng, additional, Chen, Ken, additional, Gibbs, Richard A., additional, Rautenstrauss, Bernd, additional, Cheung, Sau Wai, additional, Smith, Janice, additional, Breman, Amy, additional, Shaw, Chad A., additional, Patel, Ankita, additional, Hurles, Matthew E., additional, and Lupski, James R., additional

Published
2017
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47. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Author

James, Regis A., primary, Campbell, Ian M., additional, Chen, Edward S., additional, Boone, Philip M., additional, Rao, Mitchell A., additional, Bainbridge, Matthew N., additional, Lupski, James R., additional, Yang, Yaping, additional, Eng, Christine M., additional, Posey, Jennifer E., additional, and Shaw, Chad A., additional

Published
2016
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49. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Author

Campbell, Ian M., primary, Gambin, Tomasz, additional, Jhangiani, Shalini N., additional, Grove, Megan L., additional, Veeraraghavan, Narayanan, additional, Muzny, Donna M., additional, Shaw, Chad A., additional, Gibbs, Richard A., additional, Boerwinkle, Eric, additional, Yu, Fuli, additional, and Lupski, James R., additional

Published
2015
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50. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

Author

Yuan, Bo, primary, Liu, Pengfei, additional, Gupta, Aditya, additional, Beck, Christine R., additional, Tejomurtula, Anusha, additional, Campbell, Ian M., additional, Gambin, Tomasz, additional, Simmons, Alexandra D., additional, Withers, Marjorie A., additional, Harris, R. Alan, additional, Rogers, Jeffrey, additional, Schwartz, David C., additional, and Lupski, James R., additional

Published
2015
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