On stillness
Rossetti, Linda Z
Published in American journal of medical genetics. Part C, Seminars in medical genetics (28.06.2024)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (28.06.2024)
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Journal Article
A novel 3q interstitial deletion including GATA2 and ZNF148: A case report
Martin, Elizabeth, VanSickle, Elizabeth A., Rossetti, Linda Z.
Published in American journal of medical genetics. Part A (01.08.2024)
Published in American journal of medical genetics. Part A (01.08.2024)
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Journal Article
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF
Rossetti, Linda Z., Glinton, Kevin, Yuan, Bo, Liu, Pengfei, Pillai, Nishitha, Mizerik, Elizabeth, Magoulas, Pilar, Rosenfeld, Jill A., Karaviti, Lefkothea, Sutton, Vernon R., Lalani, Seema R., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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Journal Article
Expansion of the phenotypic spectrum of KARS1‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation
Bejma, Taylor A., Beidler, Willa S., VanSickle, Elizabeth A., Prokop, Jeremy W., Brown, Wendy T., Scheurer‐Monaghan, Andrea, Rossetti, Linda Z.
Published in American journal of medical genetics. Part A (01.11.2024)
Published in American journal of medical genetics. Part A (01.11.2024)
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Journal Article
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1 -further expansion of the phenotypic spectrum
Mikhail, Kristen A, VanSickle, Elizabeth, Rossetti, Linda Z
Published in Cold Spring Harbor molecular case studies (01.02.2023)
Published in Cold Spring Harbor molecular case studies (01.02.2023)
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Journal Article
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya
Published in Cell reports (Cambridge) (15.03.2022)
Published in Cell reports (Cambridge) (15.03.2022)
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Journal Article
Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report
Slater, Brady, Glinton, Kevin, Dai, Hongzheng, Lay, Erica, Karaviti, Lefkothea, Mizerik, Elizabeth, Murali, Chaya N., Lalani, Seema R., Bacino, Carlos A., Rossetti, Linda Z.
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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Journal Article
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.
Published in Molecular genetics & genomic medicine (01.01.2021)
Published in Molecular genetics & genomic medicine (01.01.2021)
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Journal Article
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
Hansen, Adam W., Arora, Payal, Khayat, Michael M., Smith, Leah J., Lewis, Andrea M., Rossetti, Linda Z., Jayaseelan, Joy, Cristian, Ingrid, Haynes, Devon, DiTroia, Stephanie, Meeks, Naomi, Delgado, Mauricio R., Rosenfeld, Jill A., Pais, Lynn, White, Susan M., Meng, Qingchang, Pehlivan, Davut, Liu, Pengfei, Gingras, Marie-Claude, Wangler, Michael F., Muzny, Donna M., Lupski, James R., Kaplan, Craig D., Gibbs, Richard A.
Published in HGG advances (14.01.2021)
Published in HGG advances (14.01.2021)
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Journal Article
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
Mark, Paul R, Murray, Stephen A, Yang, Tao, Eby, Alexandra, Lai, Angela, Lu, Di, Zieba, Jacob, Rajasekaran, Surender, VanSickle, Elizabeth A, Rossetti, Linda Z, Guidugli, Lucia, Watkins, Kelly, Wright, Meredith S, Bupp, Caleb P, Prokop, Jeremy W
Published in Cold Spring Harbor molecular case studies (01.10.2022)
Published in Cold Spring Harbor molecular case studies (01.10.2022)
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Journal Article
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
Sliepka, Joseph M, McGriff, Sarah C, Rossetti, Linda Z, Bizargity, Peyman, Streff, Haley, Lee, Yi-Shan, Dai, Hongzheng, Polubothu, Satyamaanasa, Lee, Grace, Ren, Vicky, Hunter, Jill V, Curry, Daniel J, Scaglia, Fernando, Adesina, Adekunle M, Ali, Irfan, Kinsler, Veronica, Burrage, Lindsay C, Marafi, Dana
Published in Neurology. Genetics (01.12.2019)
Published in Neurology. Genetics (01.12.2019)
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Journal Article
182 Inherited POMP-Related Autoinflammation and Immune Dysregulation Disease Treated with Baricitinib Prior to Hematopoietic Stem Cell Transplant
Hartog, Nicholas, Duffner, Ulrich, Holsworth, Amanda, Stingl, Cory, Fogg, George, Rossetti, Linda, Quigg, Troy
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
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Journal Article
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-offunction variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum
Mikhail, Kristen A, VanSickle, Elizabeth, Rossetti, Linda Z
Published in Cold Spring Harbor molecular case studies (01.02.2023)
Published in Cold Spring Harbor molecular case studies (01.02.2023)
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Journal Article
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review
Pillai, Nishitha R., Stroup, Bridget M., Poliner, Anna, Rossetti, Linda, Rawls, Brandy, Shayota, Brian J., Soler-Alfonso, Claudia, Tunuguntala, Hari Priya, Goss, John, Craigen, William, Scaglia, Fernando, Sutton, V. Reid, Himes, Ryan Wallace, Burrage, Lindsay C.
Published in Molecular genetics and metabolism (01.12.2019)
Published in Molecular genetics and metabolism (01.12.2019)
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Journal Article
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases
Bekheirnia, Nasim, Glinton, Kevin E, Rossetti, Linda, Manor, Joshua, Chen, Wuyan, Lamb, Dolores J, Braun, Michael C, Bekheirnia, Mir Reza
Published in Kidney360 (28.01.2021)
Published in Kidney360 (28.01.2021)
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Journal Article
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report
Slater, Brady, Glinton, Kevin, Dai, Hongzheng, Lay, Erica, Karaviti, Lefkothea, Mizerik, Elizabeth, Murali, Chaya N, Lalani, Seema R, Bacino, Carlos A, Rossetti, Linda Z
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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Report
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
Marcogliese, Paul C, Deal, Samantha L, Andrews, Jonathan, Harnish, J Michael, Bhavana, V Hemanjani, Graves, Hillary K, Jangam, Sharayu, Luo, Xi, Liu, Ning, Danqing Bei, Yu-Hsin, Chao, Hull, Brooke, Pei-Tseng, Lee, Pan, Hongling, Longley, Colleen M, Hsiao-Tuan Chao, Chung, Hyunglok, Haelterman, Nele A, Kanca, Oguz, Manivannan, Sathiya N, Rossetti, Linda Z, Gerard, Amanda, Eva Maria Christina Schwaibold, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N, Barakat, Tahsin Stefan, Van Dooren, Marieke F, Wilke, Martina, Marjon Van Slegtenhorst, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A, Madden, Jill A, Agrawal, Pankaj B, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A, Marom, Ronit, Wangler, Michael F, Yamamoto, Shinya
Published in bioRxiv (01.02.2021)
Published in bioRxiv (01.02.2021)
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