Bibliotecas PUC-SP - Busca Integrada

Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype

Por Ria Garg, Ria Garg, Wenying Zhang, Wenying Zhang, Julianne E. Hartmann, Anne Slavotinek, Anne Slavotinek
Publicado no Frontiers in Pediatrics (2025-04-01)

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

Por Caroline Cavender, Anne Slavotinek, Carrie Atzinger
Publicado no Genetics in Medicine Open (2024-01-01)

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

Por Max Krall, Stephanie Htun, Anne Slavotinek
Publicado no PLoS ONE (2019-01-01)

P748: The role of PACS2 and pacs2 in ocular development

Por Courtney Linne, Ajay Deepak Verma, Anne Slavotinek
Publicado no Genetics in Medicine Open (2025-01-01)

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

Por Ava Schwan, Farrah Jackson, Daniel Swarr, David Russell, Anne Slavotinek
Publicado no Genetics in Medicine Open (2024-01-01)

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

Por Madison Moe, Supriya Sharma, Stephanie Htun, Yihui Sun, Sergio Baranzini, Anne Slavotinek
Publicado no Genetics in Medicine Open (2024-01-01)

P475: Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia

Por Farrah Jackson, Jaime Lopes, Sarah Taylor, Laurelle Kinga-Bakienga, Anne Slavotinek, Kristin Theobald
Publicado no Genetics in Medicine Open (2025-01-01)

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

Por Tien Le, Stephanie Htun, Manoj Kumar Pandey, Manoj Kumar Pandey, Yihui Sun, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah, Julie Lauzon, Shannon Beres, Shannon Beres, Chung Lee, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Sergio E. Baranzini, Sergio E. Baranzini, Anne Slavotinek, Anne Slavotinek, Anne Slavotinek
Publicado no Frontiers in Cell and Developmental Biology (2025-03-01)

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

Por Dima Qu’d, Lauren M. Schmitt, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Jacqueline R. Harris, Anne Slavotinek, Anne Slavotinek, Ilka Riddle, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson, Brittany N. Simpson
Publicado no Frontiers in Genetics (2023-06-01)

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

Por Daniel M. Balkin, Menitha Poranki, Craig M. Forester, Morna J. Dorsey, Anne Slavotinek, Jason H. Pomerantz
Publicado no Molecular Genetics & Genomic Medicine (2019-09-01)

P627: Bi-allelic RAB5IF variants associated with craniofacial and skeletal anomalies: Further insights into CFSMR2 syndrome

Por Khurram Liaqat, Kayla Treat, Molly McPheron, Anne Slavotinek, Balram Gangaram, Daniel Calame, Erin Conboy, Francesco Vetrini
Publicado no Genetics in Medicine Open (2025-01-01)

P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study

Por Kristin Theobald, Farrah Jackson, Jaime Lopes, Amelle Shillington, Hassan Chaib, Brian Dawson, Laurelle Kinga-Bakienga, Michael Pauciulo, Anne Slavotinek
Publicado no Genetics in Medicine Open (2025-01-01)

P331: Establishing episignatures as a diagnostic tool for diabetic embryopathy

Por Ava Schwan, Farrah Jackson, Karim Karimi, Jennifer Kerkhof, Daniel Swarr, David Russell, Xue Zhang, Tugce Balci, Bekim Sadikovic, Anne Slavotinek
Publicado no Genetics in Medicine Open (2025-01-01)

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

Por Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek
Publicado no American Journal of Ophthalmology Case Reports (2017-09-01)

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

Por 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
Publicado no Genetics in Medicine Open (2023-01-01)

P338: Studying the role of the DIP2C gene in humans and zebrafish

Por Katelyn Beatty, Ajay Deepak Verma, Madison Moe, Stephanie Htun, Thomas Scerri, Alpa Sidhu, Jacob Ginter, Lindsey Walker, Matthew Deardorff, Jenny Do, Ingrid van de Laar, Melissa Pauly, Georgia Vasileiou, Angela Morgan, Anne Slavotinek
Publicado no Genetics in Medicine Open (2025-01-01)

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

Por 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
Publicado no npj Genomic Medicine (2024-01-01)

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

Por 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
Publicado no Genetics in Medicine Open (2023-01-01)

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Por Ryan Chao, Linda Nevin, Pooja Agarwal, Jan Riemer, Xiaoyang Bai, Allen Delaney, Matthew Akana, Nelson JimenezLopez, Tanya Bardakjian, Adele Schneider, Nicolas Chassaing, Daniel F Schorderet, David FitzPatrick, Pui-yan Kwok, Lars Ellgaard, Douglas B Gould, Yan Zhang, Jarema Malicki, Herwig Baier, Anne Slavotinek
Publicado no PLoS ONE (2010-05-01)

Application of full-genome analysis to diagnose rare monogenic disorders

Por 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
Publicado no npj Genomic Medicine (2021-09-01)