A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression

Authors: Tien Le, Stephanie Htun, Manoj Kumar Pandey, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah, Julie Lauzon, Shannon Beres, Chung Lee, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Sergio E. Baranzini, Anne Slavotinek

Source: Frontiers in Cell and Developmental Biology, Vol 13 (2025)

Subject Terms: cysteine-rich motor neuron 1, zebrafish, lens development, RNA-seq, colobomatous macrophthalmia with microcornea, coloboma, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2025.1522094/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/7a780d19b61942a68638644ae13bdaef

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population

Authors: Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara L. Ackerman, Barbara A. Koenig, Pui-Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch

Source: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-14 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/e1e6ad4fde6842039e6b02089d668270

P294: Exploring episignatures as a potential diagnostic tool for diabetic embryopathy

Authors: Ava Schwan, Farrah Jackson, Daniel Swarr, David Russell, Anne Slavotinek

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101190- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003364; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/ecc7f5b4763e4f658f8c962547eb4ea0

P395: Hallermann-Streiff syndrome: Characteristic features and diagnostic overlap

Authors: Caroline Cavender, Anne Slavotinek, Carrie Atzinger

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101289- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424004357; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/5f3985e395e84646a5fdd9d8a6b8ea2e

P720: Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon

Authors: Madison Moe, Supriya Sharma, Stephanie Htun, Yihui Sun, Sergio Baranzini, Anne Slavotinek

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101624- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424007702; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/f8b246b77d614cfe80766b782c64857b

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

Authors: Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton

Source: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/c19fcc01932947f88e053f92d2e0e021

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

Authors: Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia

Source: Nature Communications, Vol 13, Iss 1, Pp 1-29 (2022)

Subject Terms: Science

File Description: electronic resource

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

Access URL: https://doaj.org/article/a42e4ca5b10d4b7dba9201eff5862471

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

Authors: Dima Qu’d, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Anne Slavotinek, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: Rubinstein-Taybi syndrome, behavior, anxiety, age-related change, adaptive living skills, obsessive compulsive disorder, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1116919/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/161b4de6377147f194258490dd334af5

O40: Clinical utility of prenatal exome sequencing in a diverse cohort

Authors: Mary Norton, Billie Lianoglou, Matthew Shear, Sara Ackerman, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Neil Risch, Pui-Yan Kwok, Anne Slavotinek, Teresa Sparks

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100647- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423006477; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/87b1a6b74b4748028c09b94acd786c8b

O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort

Authors: Teresa Sparks, Billie Lianoglou, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Pui-Yan Kwok, Sara Ackerman, Anne Slavotinek, Neil Risch, Mary Norton

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100648- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423006489; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/598a3764053d4afa8d26999d4ce735d8

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

Authors: Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton

Source: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-1 (2023)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/b1f5932fcc964295b8b3d3403778b9ab

Application of full-genome analysis to diagnose rare monogenic disorders

Authors: Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli

Source: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/9a465491e52f48439eba018a2a0c7a7a

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Authors: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

Source: BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)

Subject Terms: Cardiovascular disorders, Clinical genetics, Hereditary cancer syndromes, Monogenic disorders, Population screening, Proactive genetic screening, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7015

Access URL: https://doaj.org/article/7ae57346a2ed465d9bdbdfb8577900b2

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Authors: Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

Source: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/c447334b912746929ee920eb4139f48f

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Authors: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

Source: BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7015

Access URL: https://doaj.org/article/0c0c1663790f40ce8a666b2757242ff1

Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders

Authors: Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli

Source: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/5e3c11cfdf3f4c82bfe28483d4bc97d0

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

Authors: Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek

Source: American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 102-106 (2017)

Subject Terms: Anophthalmia, Microphthalmia, Growth/Differentiation Factor 3, GDF3, p.Arg266Cys in GDF3, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993616300809; https://doaj.org/toc/2451-9936

Access URL: https://doaj.org/article/efe52b12b9744d6195a0ceb513f3de87

TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia

Authors: Daniel M. Balkin, Menitha Poranki, Craig M. Forester, Morna J. Dorsey, Anne Slavotinek, Jason H. Pomerantz

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)

Subject Terms: anterior segment dysgenesis, congenital immunodeficiency, craniofacial anomaly, macrocytic anemia, Taspase 1, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/daac9c20b12444b2b230f0a725fff6ac

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish.

Authors: Max Krall, Stephanie Htun, Anne Slavotinek

Source: PLoS ONE, Vol 14, Iss 4, p e0212121 (2019)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/878d25dc6af648a5b07e89c7e6e57fe7

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Authors: Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

Source: Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124715007639; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/b23784000fc94e8fa5337756d5dd9e52