المؤلفون: Cheff, Dorian M, Muotri, Alysson R, Stockwell, Brent R, Schmidt, Edward E, Ran, Qitao, Kartha, Reena V, Johnson, Simon C, Mittal, Plavi, Arnér, Elias SJ, Wigby, Kristen M, Hall, Matthew D, Ramesh, Sanath Kumar

المصدر: Orphanet Journal of Rare Diseases. 16(1)

مصطلحات موضوعية: Rare Diseases, Genetics, Orphan Drug, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Osteochondrodysplasias, Sedaghatian-type spondylometaphyseal dysplasia, SSMD, Glutathione peroxidase 4, GPX4, Rare genetic disorder, Therapy development, Roadmap, Ultra-rare disease, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4pb9v6gx
https://escholarship.org/content/qt4pb9v6gx/qt4pb9v6gx.pdf

المؤلفون: Scocchia, Alicia, Wigby, Kristen M, Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I, Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S, Rajan, Vani, Perry, Denise L, Belmont, John W, Bentley, David R, Jones, Marilyn C, Taft, Ryan J

المصدر: npj Genomic Medicine. 4(1)

مصطلحات موضوعية: Clinical Research, Pediatric, Human Genome, Genetic Testing, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, Good Health and Well Being, ICSL Interpretation and Reporting Team

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3q15p0q1
https://escholarship.org/content/qt3q15p0q1/qt3q15p0q1.pdf

المؤلفون: Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M, Baratang, Nissan V, Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A, Laniewski, Stephanie C, Jones, Julie, Iglesias, Alejandro D, Jones, Marilyn C, Masser-Frye, Diane, Scheuerle, Angela E, Perry, Denise L, Taft, Ryan J, Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M

المصدر: American Journal of Human Genetics. 103(4)

مصطلحات موضوعية: Neurodegenerative, Congenital Structural Anomalies, Pediatric, Brain Disorders, Rare Diseases, Genetics, Human Genome, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Acyltransferases, Arthrogryposis, Cell Line, Cerebellar Ataxia, Child, Child, Preschool, Developmental Disabilities, Epilepsy, Generalized, Female, HEK293 Cells, Humans, Intellectual Disability, Male, Muscle Hypotonia, Mutation, Nervous System Malformations, Pedigree, Seizures, Syndrome, Whole Exome Sequencing, Exome Sequencing, PIGS, epilepsy, glycosylphosphatidylinositol, glycosylphosphatidylinositol biosynthesis defect, inherited GPI deficiency, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4bj18588

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

وصف الملف: text

Relation: https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx; https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf; Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry and Maroofian, Reza (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25 (1), 135-142. (doi:10.1016/j.gim.2022.09.016 ).

الاتاحة: https://eprints.soton.ac.uk/472172/
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx
https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdf

المؤلفون: de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, S, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, L, Bryant, Emily, M, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, M, Friedman, Jennifer, R, Iascone, Maria, Cereda, Anna, Miao, Térence, Leguern, Eric, Argilli, Emanuela, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, N, Owens, Joshua, W, Husami, Ammar, Chaudhari, Bimal, P, Stone, Brandon, S, Burns, Katie, Li, Rachel, de Lange, Iris, M, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, W, Trimouille, Aurélien

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: hal-04191246; https://hal.sorbonne-universite.fr/hal-04191246; https://hal.sorbonne-universite.fr/hal-04191246/document; https://hal.sorbonne-universite.fr/hal-04191246/file/jmg-2022-108803.full.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-04191246
https://hal.sorbonne-universite.fr/hal-04191246/document
https://hal.sorbonne-universite.fr/hal-04191246/file/jmg-2022-108803.full.pdf
https://doi.org/10.1136/jmg-2022-108803

المؤلفون: Hirschenberger, Maximilian, Lepelley, Alice, Rupp, Ulrich, Klute, Susanne, Hunszinger, Victoria, Koepke, Lennart, Merold, Veronika, Didry-Barca, Blaise, Wondany, Fanny, Bergner, Tim, Moreau, Tatiana, Rodero, Mathieu P., Rösler, Reinhild, Wiese, Sebastian, Volpi, Stefano, Gattorno, Marco, Papa, Riccardo, Lynch, Sally-Ann, Haug, Marte G., Houge, Gunnar, Wigby, Kristen M., Sprague, Jessica, Lenberg, Jerica, Read, Clarissa, Walther, Paul, Michaelis, Jens, Kirchhoff, Frank, de Oliveira Mann, Carina C., Crow, Yanick J., Sparrer, Konstantin M. J.

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-023-42150-4
https://www.nature.com/articles/s41467-023-42150-4.pdf
https://www.nature.com/articles/s41467-023-42150-4

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad YV, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T, Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C, Redman, Melody, Stegmann, Alexander PA, Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, McLean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Chromatinopathy, Mendelian disorders of the epigenetic machinery, PRMT7, Syndromic neurodevelopmental disorder, Syndromic obesity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf; https://discovery.ucl.ac.uk/id/eprint/10160152/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf
https://discovery.ucl.ac.uk/id/eprint/10160152/

المؤلفون: Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M., Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A., Chung, Wendy K., Schieving, Jolanda H., Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans Christoph, Weis, Denisa

المصدر: Nagy , D , Verheyen , S , Wigby , K M , Borovikov , A , Sharkov , A , Slegesky , V , Larson , A , Fagerberg , C , Brasch-Andersen , C , Kibæk , M , Bader , I , Hernan , R , High , F A , Chung , W K , Schieving , J H , Behunova , J , Smogavec , M , Laccone , F , Witsch-Baumgartner , M , Zobel , J , Duba , H C & Weis , D 2022 , ' Genotype-Phenotype Comparison in POGZ-Related ....

مصطلحات موضوعية: Clinical scoring, Deep facial gestalt analysis, Genotype-phenotype association, Neurodevelopmental disorder, Nonsense-mediated RNA decay, POGZ gene, White-Sutton syndrome

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/62c87a9a-3551-40d4-b130-39997d7cf3e2

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/62c87a9a-3551-40d4-b130-39997d7cf3e2
https://doi.org/10.3390/genes13010154
https://findresearcher.sdu.dk/ws/files/197720347/genes_13_00154_v3.pdf

المؤلفون: Cheff, Dorian M., Muotri, Alysson R., Stockwell, Brent R., Schmidt, Edward E., Ran, Qitao, Kartha, Reena V., Johnson, Simon, Mittal, Plavi, Arnér, Elias S. J., Wigby, Kristen M., Hall, Matthew D., Ramesh, Sanath Kumar

مصطلحات موضوعية: C400 Genetics, C700 Molecular Biology, Biophysics and Biochemistry

وصف الملف: text

Relation: https://nrl.northumbria.ac.uk/id/eprint/50818/1/s13023-021-02048-0.pdf; Cheff, Dorian M., Muotri, Alysson R., Stockwell, Brent R., Schmidt, Edward E., Ran, Qitao, Kartha, Reena V., Johnson, Simon, Mittal, Plavi, Arnér, Elias S. J., Wigby, Kristen M., Hall, Matthew D. and Ramesh, Sanath Kumar (2021) Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities. Orphanet Journal of Rare Diseases, 16 (1). p. 446. ISSN 1750-1172

الاتاحة: https://nrl.northumbria.ac.uk/id/eprint/50818/
https://doi.org/10.1186/s13023-021-02048-0
https://nrl.northumbria.ac.uk/id/eprint/50818/1/s13023-021-02048-0.pdf

المؤلفون: Wigby, Kristen M., Brockman, Deanna, Costain, Gregory, Hale, Caitlin, Taylor, Stacie L., Belmont, John, Bick, David, Dimmock, David, Fernbach, Susan, Greally, John, Jobanputra, Vaidehi, Kulkarni, Shashikant, Spiteri, Elizabeth, Taft, Ryan J.

المصدر: NPJ Genomic Medicine; 2/26/2024, Vol. 9 Issue 1, p1-11, 11p

المؤلفون: Angelozzi, Marco, Karvande, Anirudha, Molin, Arnaud N, Ritter, Alyssa L, Leonard, Jacqueline M M, Savatt, Juliann M, Douglass, Kristen, Myers, Scott M, Grippa, Mina, Tolchin, Dara, Zackai, Elaine, Donoghue, Sarah, Hurst, Anna C E, Descartes, Maria, Smith, Kirstin, Velasco, Danita, Schmanski, Andrew, Crunk, Amy, Tokita, Mari J, de Lange, Iris M, van Gassen, Koen, Robinson, Hannah, Guegan, Katie, Suri, Mohnish, Patel, Chirag, Bournez, Marie, Faivre, Laurence, Tran-Mau-Them, Frédéric, Baker, Janice, Fabie, Noelle, Weaver, K, Shillington, Amelle, Hopkin, Robert J, Barge-Schaapveld, Daniela Q C.M, Ruivenkamp, Claudia AL, Bökenkamp, Regina, Vergano, Samantha, Seco Moro, Maria Noelia, Díaz de Bustamante, Aranzazu, Misra, Vinod K, Kennelly, Kelly, Rogers, Caleb, Friedman, Jennifer, Wigby, Kristen M, Lenberg, Jerica, Graziano, Claudio, Ahrens-Nicklas, Rebecca C, Lefebvre, Veronique

المساهمون: NINDS, NIAMS, Children’s of Alabama, NIMH, National Institute of Health, Children’s Hospital of Philadelphia, Clinical Services Laboratory, HudsonAlpha Institute for Biotechnology

المصدر: Journal of Medical Genetics ; volume 59, issue 11, page 1058-1068 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2021-108375
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2021-108375

المؤلفون: Cheff, Dorian M., Muotri, Alysson R., Stockwell, Brent R., Schmidt, Edward E., Ran, Qitao, Kartha, Reena V., Johnson, Simon C., Mittal, Plavi, Arnér, Elias S. J., Wigby, Kristen M., Hall, Matthew D., Ramesh, Sanath Kumar

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c7f7d21933745d12c64d0feb70baf2

المؤلفون: Cheff, Dorian M., Muotri, Alysson R., Stockwell, Brent R., Schmidt, Edward E., Ran, Qitao, Kartha, Reena V., Johnson, Simon C., Mittal, Plavi, Arnér, Elias S. J., Wigby, Kristen M., Hall, Matthew D., Ramesh, Sanath Kumar

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e463c8362a217ede55f92238dcb3497

المؤلفون: Cheff, Dorian M., Muotri, Alysson R., Stockwell, Brent R., Schmidt, Edward E., Ran, Qitao, Kartha, Reena V., Johnson, Simon C., Mittal, Plavi, Arnér, Elias S. J., Wigby, Kristen M., Hall, Matthew D., Ramesh, Sanath Kumar

مصطلحات موضوعية: Data_FILES, ComputingMilieux_MISCELLANEOUS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a49c3ceb78cd87b33ee1f8bbe0d087

المؤلفون: Cheff, Dorian M., Muotri, Alysson R., Stockwell, Brent R., Schmidt, Edward E., Ran, Qitao, Kartha, Reena V., Johnson, Simon C., Mittal, Plavi, Arnér, Elias S. J., Wigby, Kristen M., Hall, Matthew D., Ramesh, Sanath Kumar

مصطلحات موضوعية: ComputingMilieux_GENERAL, ComputingMethodologies_PATTERNRECOGNITION, ComputerApplications_MISCELLANEOUS, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Data_FILES

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::765bfb32bfb67ab9d7a39e0fca63239b

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza

المصدر: Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p135-142, 8p

المؤلفون: Galarreta, Carolina I., Wigby, Kristen M., Jones, Marilyn C.

المصدر: Clinical Dysmorphology ; volume 28, issue 4, page 175-183 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0000000000000282
https://journals.lww.com/10.1097/MCD.0000000000000282