The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

Authors: Sabrina Malone Jenkins, Rachel N. Palmquist, Barry Moore, Steven E. Boyden, Thomas J. Nicholas, Pinar Bayrak-Toydemir, Rong Mao, J. Andrew R. Farrell, Carson H. Holt, Shawn G. Rynearson, Chelsea M. Solorzano, Alistair Ward, D. Hunter Best, Najla Al-Sweel, Dawn L. Bentley, Luca Brunelli, Clement Y. Chow, Devin W. Close, Michael J. Cormier, Malia J. Deshotel, Jacob Durtschi, Erik J. Eide, Luaiva Floyd, Eric K. Fredrickson, Makenzie L. Fulmer, Edgar J. Hernandez, Ashley L. Kapron, Mary Anne Karren, Robert G. Lewis, Christine E. Miller, L. Charles Murtaugh, Kelsey E. Nicholson, Katherine Noble, Brendan D. O’Fallon, John M. O’Shea, David C. Pattison, Brent S. Pedersen, Brandy J. Petersen, Bennet D. Peterson, Lucilla Pizzo, Hayley M. Reynolds, Paul Rindler, Carrie B. Torr, Ting Wen, H. Joseph Yost, Jian Zhao, Mark Yandell, Gabor T. Marth, Aaron R. Quinlan, John C. Carey, Brian J. Shayota, Martin Tristani-Firouzi, Joshua L. Bonkowsky

Source: npj Genomic Medicine, Vol 10, Iss 1, Pp 1-11 (2025)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/918a1e734c2549fcaacf70458e555f51

Belowground plant productivity responds similarly as soil microbial productivity rather than aboveground plant productivity to nitrogen deposition in the Eurasian steppe

Authors: Bin Hua, Junjie Yang, Zonghao Hu, Yi Fan, Huan Gong, Jing Wang, Haiyan Liu, Rong Mao, Yang Zhang, Yong Zhao, Zhiming Zhang, Haiming Liu, Ximei Zhang

Source: Annals of Microbiology, Vol 74, Iss 1, Pp 1-4 (2024)

Subject Terms: Belowground productivity, Microbial biomass, Nitrogen deposition, Microbiology, QR1-502

File Description: electronic resource

Relation: https://doaj.org/toc/1869-2044

Access URL: https://doaj.org/article/5465f58946db4174bdc27b9c04483d6c

P603: Laboratory testing of CFTR gene in light of evolving professional guidelines and standards for carrier screening: A reference laboratory’s experience

Authors: Yuan Ji, Sergio Del Angel, Holly Bethers, Ha Pham, Patti Krautscheid, Sara Clark, Sarah Sibio, Eric Fredrickson, Sherin Shaaban, Rong Mao

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 102451- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442500490X; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/d512b6b0ac1c4ef5afc8695d16c87724

O56: The value of cytogenetics in the age of genome sequencing

Authors: Malia Olson, Erin Baldwin, Erica Andersen, Steven Boyden, David Viskochil, Hannah Anderson, Pinar Bayrak-Toydemir, Rong Mao, Ashley Andrews, Lorenzo Botto, Undiagnosed Diseases Network

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 102483- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425005229; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/3ae9852432a841ceaa839e9f1e05d7c4

P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel

Authors: Shruthi Mohan, Irene DeBiase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Pepper St. Clair, Rachel Logan, Randy Cockerell, Raquel Fernandez, Ashley Ratzsch, Emily Kyle, Meredith Weaver, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 102848- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425008878; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/43e7768743e745a3bd923d68c38d31d5

P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders

Authors: Robert Lewis, Ting Wen, John O'Shea, Jian Zhao, Steven Boyden, Caleb Hocutt, Erin Baldwin, Jennie Vagher, Ashley Andrews, Thomas Nicholas, Alexander Chapin, Elaine Fan, Jessica Meznarich, David Viskochil, Lorenzo Botto, Pinar Bayrak-Toydemir, Rong Mao

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 103022- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425010611; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/0171e8d91d2e4519a9fc8e3b573001f9

P652: Considerations of variant interpretation in galactosemia: Challenges of creating ACMG specifications for GALT

Authors: Alexa Dickson, Diane Zastrow, Robert Lewis, Brian Shayota, Tatiana Yuzyuk, Gerard Berry, Didem Demirbas, Judith Fridovich-Keil, Rong Mao, Christina Hung

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 103021- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442501060X; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/edc5749d87d4489e9da014877178a27c

P708: Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease

Authors: John O'Shea, Robert Lewis, Alexandra Rangel, Brendan O'Fallon, Andrew Dixon, Christina Glenzel, Megan Hirschi, Erica Clyde, Undiagnosed Diseases Network, Erin Baldwin, Ashley Andrews, Lorenzo Botto, Pinar Bayrak-Toydemir, Rong Mao

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 103077- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425011161; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/1d7f7040a4a645cda222aeee1f83bead

P784: Novel de novo KAT6A variant in a pediatric patient with multisystem involvement

Authors: Chaofan Zhang, John O'Shea, Erin Baldwin, Ashley Andrews, Steven Boyden, Thomas Nicholas, Lorenzo Botto, Rong Mao, Pinar Bayrak-Toydemir

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 103153- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425011926; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/1c8e1131aa664039be3ecf4e8966757f

P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability

Authors: Jan Verheijen, John O'Shea, Steven Boyden, Thomas Nicholas, Erin Baldwin, Ashley Andrews, Lorenzo Botto, David Viskochil, Russell Butterfield, Pinar Bayrak-Toydemir, Rong Mao

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 103154- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425011938; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/9a2134188cfe4bf5aac62d79f93d532d

Global distribution and drivers of relative contributions among soil nitrogen sources to terrestrial plants

Authors: Chao-Chen Hu, Xue-Yan Liu, Avery W. Driscoll, Yuan-Wen Kuang, E. N. Jack Brookshire, Xiao-Tao Lü, Chong-Juan Chen, Wei Song, Rong Mao, Cong-Qiang Liu, Benjamin Z. Houlton

Source: Nature Communications, Vol 15, Iss 1, Pp 1-9 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/43f3b12d55db4209a5b02d22d3cf30b2

Soil properties override climatic factors to shape soil nematode diversity in the eastern forest transect of China

Authors: Shuang Pang, Bin Hua, Wei Yang, Shuhan Zhang, Yupeng Guan, Keyu Bai, Carlo Fadda, Rong Mao, Yang Zhang, Ximei Zhang

Source: Global Ecology and Conservation, Vol 54, Iss , Pp e03061- (2024)

Subject Terms: Diversity, Ecosystem multifunctionality, Forest, Latitude diversity gradient, Soil nematode, Trophic group, Ecology, QH540-549.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2351989424002658; https://doaj.org/toc/2351-9894

Access URL: https://doaj.org/article/62d780bb2c494e5583f61946143ec3ef

Maize residue retention shapes soil microbial communities and co-occurrence networks upon freeze-thawing cycles

Authors: Yang Yu, Quankuan Guo, Shuhan Zhang, Yupeng Guan, Nana Jiang, Yang Zhang, Rong Mao, Keyu Bai, Salimjan Buriyev, Nuriddin Samatov, Ximei Zhang, Wei Yang

Source: PeerJ, Vol 12, p e17543 (2024)

Subject Terms: Maize residue retention, Freezing-thawing cycles, Bacteria, Fungi, Soil quality, Co-occurrence network, Medicine, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://peerj.com/articles/17543.pdf; https://peerj.com/articles/17543/; https://doaj.org/toc/2167-8359

Access URL: https://doaj.org/article/cf01ceb704454597ae2c5c77e03b11ef

Behavioral and cortical arousal from sleep, muscimol-induced coma, and anesthesia by direct optogenetic stimulation of cortical neurons

Authors: Rong Mao, Matias Lorenzo Cavelli, Graham Findlay, Kort Driessen, Michael J. Peterson, William Marshall, Giulio Tononi, Chiara Cirelli

Source: iScience, Vol 27, Iss 6, Pp 109919- (2024)

Subject Terms: Neuroscience, Behavioral neuroscience, Cellular neuroscience, Cognitive neuroscience, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004224011416; https://doaj.org/toc/2589-0042

Access URL: https://doaj.org/article/220a3a0605734b81bed3b1c8f00f96de

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Authors: Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)

Subject Terms: ACGME, Cytogenetics, Fellowship, Molecular genetics, Training, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400966X; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034

P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

Authors: Shruthi Mohan, Irene De Biase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Meredith Weaver, Raquel Fernandez, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 100897- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000438; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/29c5f248d0a443ed8f4d1788a413a4e2

P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation

Authors: Nicholas Carr, Luca Brunelli, Makenzie Fulmer, Jennifer Rumpel, Abhishek Makkar, Burhan Mahmood, Sarah Keene, Natalie Rintoul, K. Taylor Wild, Amir Ashrafi, Semsa Gogcu, Carrie Rau, David Pattison, Hunter Best, Steven Boyden, Rong Mao

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101099- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002450; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/26515f8d23b74917848a3adbf4d1cd01

P252: Development of a scoring system to define lysosomal diseases

Authors: Matheus Wilke, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William Craigen, Filippo Pinto e Vairo

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101148- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002942; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/1cd58182024b48cfacc41ea8e4d2a0cd

P398: A rare report of a child with mosaic trisomy 4

Authors: Lauren Bartik, Elena Repnikova, Eric Rush, Jennifer Roberts, Erin Baldwin, John Carey, Lorenzo Botto, John O'Shea, Ting Wen, Pinar Bayrak-Toydemir, Rong Mao, Undiagnosed Diseases Network, Bonnie Sullivan

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101292- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424004382; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/a508431bbc2e42f390b146ae7425c8f5

O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges

Authors: Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101470- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006162; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/ceab867783d74befb1ecce6c03ae6be5