Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

Authors: Fangyi Chen, Priyanka Ahimaz, Quan M. Nguyen, Rachel Lewis, Wendy K. Chung, Casey N. Ta, Katherine M. Szigety, Sarah E. Sheppard, Ian M. Campbell, Kai Wang, Chunhua Weng, Cong Liu

Source: npj Digital Medicine, Vol 7, Iss 1, Pp 1-12 (2024)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7

File Description: electronic resource

Relation: https://doaj.org/toc/2398-6352

Access URL: https://doaj.org/article/6b71b191111b487db60456a1fed57c16

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

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

Source: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/59c29ea90e714804ab5f4038f2662271

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Authors: Nina B. Gold, Ian M. Campbell, Sarah E. Sheppard, Wen-Hann Tan

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/3c1bab1bdf3f4c86913dc6b4c521573c

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

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

Source: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100931- (2022)

Subject Terms: Malate dehydrogenase, MDH2, Mitochondrial malate dehydrogenase, TCA cycle, Epileptic encephalopathy, Leigh syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692200091X; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/0c442fea3131425d94111374d304a8a9

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening

Authors: Jessica I. Gold, Ian M. Campbell, Can Ficicioglu

Source: International Journal of Neonatal Screening, Vol 7, Iss 3, p 38 (2021)

Subject Terms: newborn screening, telemedicine, COVID-19 pandemic, telegenetics, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2409-515X/7/3/38; https://doaj.org/toc/2409-515X

Access URL: https://doaj.org/article/d984cd8734b046289559dac69cab3af8

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Personality differentiation in a police-selection interview.

Authors: James, Stephen P.. U Melbourne, Australia, Campbell, Ian M., Lovegrove, S. A.

Source: Journal of Applied Psychology, Vol 69(1), Feb, 1984. pp. 129-134.

NLM Title Abbreviation: J Appl Psychol

Publisher: US : American Psychological Association

Publication Type: Journal; Peer Reviewed Journal

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

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

Source: PLoS Genetics, Vol 11, Iss 12, p e1005686 (2015)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4671654?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/1a13d0015b5b4ffeaf951b67096849da

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.

Authors: Ian M Campbell, Mitchell Rao, Sean D Arredondo, Seema R Lalani, Zhilian Xia, Sung-Hae L Kang, Weimin Bi, Amy M Breman, Janice L Smith, Carlos A Bacino, Arthur L Beaudet, Ankita Patel, Sau Wai Cheung, James R Lupski, Paweł Stankiewicz, Melissa B Ramocki, Chad A Shaw

Source: PLoS Genetics, Vol 9, Iss 9, p e1003797 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3784560?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/e7b8418024c44b38875a1c62f7a3551d

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