المؤلفون: Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E Danko, Dai Chung, Brad W Warner, George B Mychaliska, Douglas Potoka, Amy J Wagner, Mahmoud ElFiky, Jay M Wilson, Debbie Nickerson, Michael Bamshad, Frances A High, Mauro Longoni, Patricia K Donahoe, Wendy K Chung, Yufeng Shen

المصدر: PLoS Genetics, Vol 14, Iss 12, p e1007822 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5ee7f177ac4c4fcaa1154d035c69c6ac

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

المصدر: Genes; Volume 13; Issue 1; Pages: 154

مصطلحات موضوعية: POGZ gene, neurodevelopmental disorder, White-Sutton syndrome, genotype-phenotype association, clinical scoring, deep facial gestalt analysis, nonsense-mediated RNA decay

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13010154

الاتاحة: https://doi.org/10.3390/genes13010154

المؤلفون: Yan Huang, Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A. High, Melissa A. Walker, Lance H. Rodan, Michael F. Wangler, Shinya Yamamoto, Kristin D. Kernohan, David A. Sweetser, Kym M. Boycott, Hugo J. Bellen

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 109(10), 1923-1931. Cell Press
Am J Hum Genet

مصطلحات موضوعية: DNA, Complementary, Microfilament Proteins, Mutation, Missense, Correction, Membrane Proteins, Nervous System Malformations, Phenotype, Report, Intellectual Disability, Microcephaly, Genetics, Animals, Humans, Drosophila, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3c5743b62a5fb842b71f4a216459fe
https://doi.org/10.1016/j.ajhg.2022.08.011

المؤلفون: Francis P. Colizzo, Stuti G. Shroff, Frances A. High, Yi-Bin Chen, Sara Barmettler

المصدر: New England Journal of Medicine. 387:1124-1134

مصطلحات موضوعية: Adult, Diarrhea, Male, Chronic Disease, Humans, General Medicine, Polyendocrinopathies, Autoimmune

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f8f40eddebd14ee035ae5655ec6efc1
https://doi.org/10.1056/nejmcpc2201236

المؤلفون: Katherine E. Pendleton, Andres Hernandez-Garcia, Jennifer M. Lyu, Ian M. Campbell, Chad A. Shaw, Julie Vogt, Frances A. High, Patricia K. Donahoe, Wendy K. Chung, Daryl A. Scott

المصدر: Journal of Pediatric Genetics.

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69da106eb7d887ef954fbedf244e7fee
https://doi.org/10.1055/s-0043-1767731

المؤلفون: Richard Wagner, Gaurang M. Amonkar, Wei Wang, Jessica E. Shui, Kamakshi Bankoti, Wai Hei Tse, Frances A. High, Jill M. Zalieckas, Terry L. Buchmiller, Augusto Zani, Richard Keijzer, Patricia K. Donahoe, Paul H. Lerou, Xingbin Ai

المصدر: Am J Respir Crit Care Med

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Original Articles, Critical Care and Intensive Care Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56a4d07833c688a12e659d7062bd3da
https://doi.org/10.1101/2022.11.10.515365

المؤلفون: Sarbattama Sen, Sjirk J. Westra, Juan D. Matute, Jordan S. Sherwood, Frances A. High, Melanie C. Kwan

المصدر: The New England journal of medicine. 387(13)

مصطلحات موضوعية: Hyperinsulinism, Infant, Newborn, Humans, Female, General Medicine, Hypoglycemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea95c9ede5fc45f9e05dea40240f828
https://pubmed.ncbi.nlm.nih.gov/36170504

المؤلفون: Nichole Hayes, Euan A. Ashley, Laura A. Mamounas, Allyn McConkie-Rosell, Shirley Sutton, John J.E. Mulvihill, John H. Postlethwait, Richard L. Maas, Jennefer N. Kohler, Dana Kiley, Joel B. Krier, Pankaj B. Agrawal, Xue Zhong Liu, Josh F. Peterson, Jill A. Rosenfeld, Thomas May, Jennifer E. Kyle, David A. Sweetser, Neil H. Parker, Jeanette C. Papp, Manish J. Butte, Calum A. MacRae, Rong Mao, Vandana Shashi, Christopher A. Walsh, Alica M. Goldman, Gabor T. Marth, Sharyn A. Lincoln, David Goldstein, Colleen E. McCormack, Byron L. Lam, Elly Brokamp, Lynette Rives, Lee-kai Wang, Lorraine Potocki, Mary Koziura, Matthew T. Wheeler, Teri A. Manolio, Camille L. Birch, Moretti Paolo, Willa Thorson, Fariha Jamal, Cynthia M. Cooper, Yong Huang, Matt Velinder, Catherine H. Sillari, Archana Raja, Andrea L. Gropman, J. Carl Pallais, Amy K. Robertson, Dave Viskochil, William J. Craigen, Thomas C. Markello, Devin Oglesbee, Olveen Carrasquillo, Precilla D'Souza, Lorenzo D. Botto, Hugo J. Bellen, Susan L. Samson, Jim Bale, Lisa Shakachite, Catherine Groden, Kathleen Shields, Jimann Shin, Carlos Ferreira, Lynne A. Wolfe, Melissa A. Haendel, Brent L. Fogel, Joan M. Stoler, Rebecca C. Spillmann, Roy C. Levitt, Gary D. Clark, Daniel J. Wegner, Gill Bejerano, Deborah Krakow, Ashok Balasubramanyam, J. Scott Newberry, Heidi Cope, Jijun Wan, Sandra K. Loo, Laura Duncan, Elizabeth A. Worthey, Leigh Anne Tang, Mercedes E. Alejandro, Matthew Might, Cecelia P. Tamburro, Patrick Allard, Joseph Loscalzo, Bret L. Bostwick, Lisa Emrick, Sarah K. Nicholas, David R. Murdock, Jeremy D. Woods, Alana L. Grajewski, Eva H. Baker, Lindsay C. Burrage, Stephen Pak, Camilo Toro, Ashley Andrews, James P. Orengo, Shawn Levy, Lance H. Rodan, Kelly Schoch, Jyoti G. Dayal, Thomas O. Metz, Kathy Sisco, Stephanie Bivona, Paolo Moretti, Braden E. Boone, Mahshid S. Azamian, Nicole M. Walley, Esteban C. Dell'Angelica, Rosario Isasi, Jacinda B. Sampson, F. Sessions Cole, Guoyun Yu, Rena A. Godfrey, John F. Bohnsack, Elizabeth A. Burke, John H. Newman, Alden Y. Huang, Patricia A. Ward, Barbara N. Pusey, Maria T. Acosta, Alan H. Beggs, Melissa A. Walker, Shweta U. Dhar, Edwin K. Silverman, Stephan Züchner, Ian R. Lanza, Bobbie-Jo M. Webb-Robertson, Anastasia L. Wise, Angela Jones, Nicholas Stong, Irman Forghani, Matthew H. Brush, Michael F. Wangler, Jonathan A. Bernstein, Aaron R. Quinlan, David D. Draper, Pinar Bayrak-Toydemir, Diane B. Zastrow, Daniel C. Dorset, Anna Bican, David J. Eckstein, Janet S. Sinsheimer, Isaac S. Kohane, Hsiao-Tuan Chao, May Christine V. Malicdan, C. Christopher Lau, Mariska Davids, Eva Morava-Kozicz, Beth A. Martin, Daryl A. Scott, Prashant Sharma, Elizabeth L. Fieg, Lauren C. Briere, Shinya Yamamoto, Devon Bonner, Ralph L. Sacco, Amanda J. Yoon, John Yang, Katrina M. Waters, Carlos A. Bacino, Pengfei Liu, Brendan Lee, Lisa Bastarache, Emily G. Kelley, Tiphanie P. Vogel, Jason Hom, Marta M. Majcherska, Robb Rowley, Liliana Fernandez, Carsten Bonnenmann, Stanley F. Nelson, Colleen E. Wahl, Guney Bademci, Justin Alvey, Naghmeh Dorrani, Hane Lee, Lefkothea P. Karaviti, Monte Westerfield, John A. Phillips, Laurel A. Cobban, Chunli Zhao, Nicola Longo, Donna M. Krasnewich, Ta Chen Peter Chang, Tiina K. Urv, Christine M. Eng, Chloe M. Reuter, Ingrid A. Holm, Jozef Lazar, Emilie D. Douine, Susan A. Korrick, Alexa T. McCray, Richard A. Lewis, Ronit Marom, Kimberly LeBlanc, Cynthia J. Tifft, Cecilia Esteves, David R. Adams, Donna M. Brown, Avi Nath, Rebecca Signer, Martin G. Martin, Julian A. Martinez-Agosto, Jacob L. McCauley, Alyssa A. Tran, Jennifer A. Sullivan, William A. Gahl, Brendan C. Lanpher, Marie Morimoto, Donna Novacic, Jean-Philippe F. Gourdine, Paul G. Fisher, Fred F. Telischi, Shruti Marwaha, Heather A. Colley, Queenie K.-G. Tan, Seema R. Lalani, Deborah Barbouth, Jennifer E. Posey, Yong-hui Jiang, Jennifer Wambach, Mario Saporta, Jean M. Johnston, Dustin Baldridge, Timothy Schedl, Pace Laura, Ellen Macnamara, Joy D. Cogan, Kevin S. Smith, David M. Koeller, Genecee Renteria, Maura R.Z. Ruzhnikov, Christina G.S. Palmer, Valerie Maduro, Frances A. High, Gerard T. Berry, Holly K. Tabor, Terra R. Coakley, Surendra Dasari, Neil A. Hanchard, David P. Bick, Laure Fresard, Rizwan Hamid, Lilianna Solnica-Krezel, Gabriel F. Batzli, Judy Schaechter, John C. Carey, Tyra Estwick, Mustafa Tekin

المصدر: Genetics in Medicine. 23:1830-1832

مصطلحات موضوعية: World Wide Web, Electronic health record, Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0db0b2215cbd75dbbce7e18a850faf00
https://doi.org/10.1038/s41436-021-01179-w

المؤلفون: Katherine Wesseling Perry, Archana Raja, Emilie D. Douine, Xue Zhong Liu, Brent L. Fogel, Stan F. Nelson, Kenneth R. Maravilla, Eva H. Baker, Dave Viskochil, Kerstin Kutsche, Jordan H. Whitlock, Susan L. Samson, Christine M. Eng, Chloe M. Reuter, Suman Jayadev, David R. Adams, Sihoun Hahn, Rebecca C. Spillmann, Margaret Adam, Heather C Mefford, John C. Carey, Ehsan Ghayoor Karimiani, Donna M. Krasnewich, David Goldstein, Susan A. Korrick, Guoyun Yu, Tomas Honzik, Henry Houlden, Andrea L. Gropman, David A. Sweetser, Anna Bican, Carlos A. Bacino, Liliana Fernandez, Gabrielle Brown, Justin Alvey, Hane Lee, Emanuele G. Coci, Hongzheng Dai, Mario Saporta, Laurel A. Cobban, John F. Bohnsack, Stephanie Fox, Heidi Cope, Tyra Estwick, Lorraine Potocki, Nichole Hayes, Elizabeth A. Burke, Rizwan Hamid, Aaron R. Quinlan, Kelly Hassey, Lindsay C. Burrage, Jane Juusola, Adeline Vanderver, Malik Alawi, Teri A. Manolio, Maja Hempel, Esther M. Maier, Jennifer Kennedy, Bruce D. Gelb, Martha Horike-Pyne, Amarilis Sanchez-Valle, Euan A. Ashley, Surendra Dasari, Elizabeth Blue, Eva Morava-Kozicz, Natalie Rosenwasser, Alan H. Beggs, Bryn D. Webb, Isaac S. Kohane, Kelly Schoch, C. Christopher Lau, Nicole M. Walley, Laura M. Amendola, Genecee Renteria, Catherine H. Sillari, Jonathan A. Bernstein, Pinar Bayrak-Toydemir, R. Frank Kooy, Mariko Nakano-Okuno, Manuela Siekmeyer, Marije E. C. Meuwissen, Stephanie Bivona, Mark Wener, Precilla D'Souza, Olveen Carrasquillo, Paolo Moretti, Diane B. Zastrow, David J. Eckstein, Janet S. Sinsheimer, Kathy Sisco, Holly K. Tabor, William E. Byrd, Esteban C. Dell'Angelica, Rosario Isasi, Jacinda B. Sampson, Carsten Bonnenmann, J. Lawrence Merritt, Joan M. Stoler, Richard L. Maas, Paul G. Fisher, Jeanette C. Papp, Kimberly LeBlanc, Lilianna Solnica-Krezel, Mustafa Tekin, Mathias Woidy, Andrew B. Crouse, Katleen Ballon, David Murphy, Matthew T. Wheeler, Joseph Loscalzo, Ellen Macnamara, Cecelia P. Tamburro, Lefkothea P. Karaviti, Chunli Zhao, Ingrid A. Holm, Pankaj B. Agrawal, Alana L. Grajewski, Stephen C. Pak, Ian R. Lanza, Mohammad Doosti, Jennifer E. Posey, Rebecca Signer, Katie Golden-Grant, Christopher A. Walsh, Alica M. Goldman, Jyoti G. Dayal, Queenie K.-G. Tan, Martin G. Martin, Joy D. Cogan, Kevin S. Smith, Deborah A. Nickerson, Elisabeth McGee, Laure Fresard, Rena A. Godfrey, Sharyn A. Lincoln, Kathleen E. Sullivan, Mariska Davids, Melissa A. Walker, Prashant Sharma, Maria Iascone, Neil H. Parker, Carlos Ferreira, Elizabeth L. Fieg, Edwin K. Silverman, Michael L. Cunningham, Pengfei Liu, Edward M. Behrens, Sandra K. Loo, David R. Murdock, F. Sessions Cole, C. Ron Scott, Dan Doherty, Elly Brokamp, John H. Newman, Alden Y. Huang, Laura A. Pace, Avi Nath, Jimmy Bennet, Georg Christoph Korenke, Alyssa A. Tran, Gabriel F. Batzli, Jimann Shin, Matthew A. Deardorff, Naghmeh Dorrani, Diane Beysen, Irma Gutierrez, Stanislav Kmoch, Majid Alfadhel, Fred F. Telischi, Jennifer A. Sullivan, William A. Gahl, María Palomares-Bralo, Gerard T. Berry, Colleen E. McCormack, Lance H. Rodan, Reza Maroofian, Lenka Nosková, Judy Schaechter, Lynne A. Wolfe, Deborah Krakow, Daryl A. Scott, Tara Wenger, Jason Hom, Dustin Baldridge, Lynette Rives, Lee-kai Wang, Dawn L. Earl, Ralph L. Sacco, Fernando Santos-Simarro, Irman Forghani, Fuki M. Hisama, Terra R. Coakley, Hsiao-Tuan Chao, Jeremy D. Woods, Emily G. Kelley, Jean M. Johnston, Neil A. Hanchard, Amy K. Robertson, Matt Velinder, Byron L. Lam, Wendy H. Raskind, William J. Craigen, Stephan Züchner, Guney Bademci, Julian A. Martinez-Agosto, Mary Koziura, Beth A. Martin, Angela Sun, John A. Phillips, Seema R. Lalani, Daniela Buhas, Emily Solem, Gary D. Clark, Gill Bejerano, Ingo Kurth, Deborah Barbouth, Tiina K. Urv, Fanny Kortüm, Ian A. Glass, Ta Chen Peter Chang, Yong Huang, Roy C. Levitt, Paola Francesca Ajmone, Brenna Boyd, René Santer, Tim Schedl, David D. Draper, Ghayda M. Mirzaa, Aroa Rodríguez Alonso, Stephanie Wallace, Colleen E. Wahl, Calum A. MacRae, Gail P. Jarvik, Jacob L. McCauley, Jill A. Rosenfeld, Ronit Marom, Monte Westerfield, Matthew Might, Poupak Javaher-Haghighi, Brendan C. Lanpher, Devon Bonner, Cynthia J. Tifft, Cecilia Esteves, May Christine V. Malicdan, Jim Bale, Fariha Jamal, Nicola Longo, Christina G.S. Palmer, Lisa Emrick, Peter H. Byers, Vandana Shashi, Tiphanie P. Vogel, Richard A. Lewis, Jijun Wan, Barbara N. Pusey, Maria T. Acosta, Jaak Jaeken, Allyn McConkie-Rosell, Shirley Sutton, John Yang, Lorenzo D. Botto, Hilde Peeters, Rong Mao, Catherine Groden, Brendan Lee, Marta M. Majcherska, Rami Abou Jamra, Ashok Balasubramanyam, Joel B. Krier, Majid Mojarrad, Maria Francesca Bedeschi, Mahshid S. Azamian, Shruti Marwaha, Heather A. Colley, Katrina M. Dipple, Sirisak Chanprasert, Alexa T. McCray, Nicholas Stong, Anne V. Hing, Laura A. Mamounas, Edward C. Smith, Lauren C. Briere, John J.E. Mulvihill, Virginia P. Sybert, Maura R.Z. Ruzhnikov, Valerie Maduro, Frances A. High, Manish J. Butte, Willa Thorson, J. Carl Pallais, Jennefer N. Kohler, Dana Kiley, Raphael Bernier, Christina Lam, Michael J. Bamshad, Patricia A. Ward, Michael F. Wangler, Anita E. Beck, Shinya Yamamoto, Beverly Berg-Rood, Robb Rowley, Gabor T. Marth, Cynthia M. Cooper, Jeffrey G. Jarvik, Thomas C. Markello, Saskia Biskup, Devin Oglesbee, Laura Duncan, Elijah Kravets, Daniel J. Wegner, Mercedes E. Alejandro, Sarah K. Nicholas, Jennifer A. Wambach, Marni J. Falk, Brianna M. Tucker, Marie Morimoto, Corina Heller, Donna Novacic, Camilo Toro, Ashley Andrews, James P. Orengo, Shweta U. Dhar, Pauline E. Schneeberger

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Death Domain Receptor Signaling Adaptor Proteins, Programmed cell death, Developmental Disabilities, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidermal growth factor, medicine, Guanine Nucleotide Exchange Factors, Humans, Death domain, Kinase, Original Articles, Phenotype, Hypotonia, Protein Transport, 030104 developmental biology, Mutation, Cancer research, Human medicine, Neurology (clinical), Nervous System Diseases, Signal transduction, medicine.symptom, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469dd7950f25b051fd734c3b254fdd78
https://doi.org/10.1093/brain/awaa204

المؤلفون: Rosanna Weksberg, Courtney Kiss, Marta Szybowska, Nina Ekhilevitch, Irina Anselm, David A. Sweetser, Michael Marble, Kristin Lindstrom, Cara Forster, Haley Streff, Renata C. Gallagher, John Pappas, Jessica Nance, Patricia G Wheeler, Melissa A. Walker, Grace Yoon, Carl E. Stafstrom, Weiyi Mu, Mary Kay Koenig, Wei Wang, Jane Juusola, Lauren C. Briere, Eric Muller, Julie S. Cohen, E. Hallie Andrew, Frances A. High, Cheryl Cytrynbaum, Jamie L. Fraser, Joel B. Krier, Hannah Meddaugh, Ali Fatemi, Robert E. Kingston, Kristin W. Barañano, Bridget Ostrem, Maria J. Guillen Sacoto, Ellen Moran, Marvin R. Natowicz, Karin Weiss, Erin Torti, Iva A. Tchasovnikarova, William J. Craigen, Cara Inglese, Andrea Guerin, Matthew J. Elrick, Devon Haynes, Chantal F. Morel, Adam L. Numis

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Microcephaly, Adolescent, Biology, Chromatin remodeling, Craniofacial Abnormalities, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual Disability, Report, Intellectual disability, Genetics, medicine, Humans, Child, Growth Disorders, Genetics (clinical), Exome sequencing, Adenosine Triphosphatases, Genetic Diseases, Inborn, Infant, Spinal muscular atrophy, Hyporeflexia, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, medicine.symptom, 030217 neurology & neurosurgery, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe48c69116fc39c7b9900e63ac29144
https://doi.org/10.1016/j.ajhg.2020.06.013

المؤلفون: Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier

المساهمون: Castilla-Vallmanya L., Selmer K.K., Dimartino C., Rabionet R., Blanco-Sanchez B., Yang S., Reijnders M.R.F., van Essen A.J., Oufadem M., Vigeland M.D., Stadheim B., Houge G., Cox H., Kingston H., Clayton-Smith J., Innis J.W., Iascone M., Cereda A., Gabbiadini S., Chung W.K., Sanders V., Charrow J., Bryant E., Millichap J., Vitobello A., Thauvin C., Mau-Them F.T., Faivre L., Lesca G., Labalme A., Rougeot C., Chatron N., Sanlaville D., Christensen K.M., Kirby A., Lewandowski R., Gannaway R., Aly M., Lehman A., Clarke L., Graul-Neumann L., Zweier C., Lessel D., Lozic B., Aukrust I., Peretz R., Stratton R., Smol T., Dieux-Coeslier A., Meira J., Wohler E., Sobreira N., Beaver E.M., Heeley J., Briere L.C., High F.A., Sweetser D.A., Walker M.A., Keegan C.E., Jayakar P., Shinawi M., Kerstjens-Frederikse W.S., Earl D.L., Siu V.M., Reesor E., Yao T., Hegele R.A., Vaske O.M., Rego S., Shapiro K.A., Wong B., Gambello M.J., McDonald M., Karlowicz D., Colombo R., Serretti A., Pais L., O'Donnell-Luria A., Wray A., Sadedin S., Chong B., Tan T.Y., Christodoulou J., White S.M., Slavotinek A., Barbouth D., Morel Swols D., Parisot M., Bole-Feysot C., Nitschke P., Pingault V., Munnich A., Cho M.T., Cormier-Daire V., Balcells S., Lyonnet S., Grinberg D., Amiel J., Urreizti R., Gordon C.T., MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med

مصطلحات موضوعية: 0301 basic medicine, NF-KAPPA-B, PROTEIN, 030105 genetics & heredity, medicine.disease_cause, Germline, Transcriptome, ACTIVATION, POLYUBIQUITINATION, Missense mutation, Exome, Genetics (clinical), Genetics, Sanger sequencing, Mutation, leads, Necrosi, craniofacial development, Phenotype, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, intellectual disability, patent ductus arteriosu, symbols, Mutation, Missense, Biology, traf7, Article, akt1, target, 03 medical and health sciences, symbols.namesake, Necrosis, patent ductus arteriosus, medicine, Humans, blepharophimosi, Tumors, MUTATIONS, Fibroblasts, medicine.disease, Blepharophimosis, TRAF7, blepharophimosis, GENOMIC ANALYSIS, Germ Cells, 030104 developmental biology, MENINGIOMAS

وصف الملف: STAMPA; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecbcc89382dda63f833e0863a3f1a46
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8

المؤلفون: Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W. Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli‐Dipple, Cécile Voisset, Melissa A. Walker, Lauren C. Briere, Amélie Bourhis, Marc Blondel, Charles LeDuc, Jacob Hagen, Cathleen Cooper, Colleen Muraresku, Claude Ferec, Armelle Garenne, Servane Lelez‐Soquet, Cassandra A. Rogers, Yufeng Shen, Dana K. Strode, Peyman Bizargity, Alejandro Iglesias, Amy Goldstein, Frances A. High, Undiagnosed Diseases Network, David A. Sweetser, Rebecca Ganetzky, Johan L. K. Van Hove, Vincent Procaccio, Cedric Le Marechal, Wendy K. Chung

المصدر: Journal of inherited metabolic disease. 45(5)

مصطلحات موضوعية: Brain Diseases, DNA, Complementary, Mutation, Genetics, Humans, Proteins, Leigh Disease, Mitochondrial Proton-Translocating ATPases, Genetics (clinical), Mitochondria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49cf2c2f3e1aad721af9beecf96b54e
https://pubmed.ncbi.nlm.nih.gov/35621276

المؤلفون: Hernandez P, Gilbert-Dussardier B, Boris Keren, Ai X, Eric L. Bogenschutz, J. Wells, Zeynep Coban-Akdemir, Julia Wynn, Frédéric Frénois, Contreras Htm, Lupski, Andres Hernandez-Garcia, Ropers Hh, Lu Qiao, Florence Petit, Yonath H, Richard S. Maser, Anne-Sophie Jourdain, Delrue M, Giampietro Pf, Clark Rd, Wendy K. Chung, Harrison Brand, McCulley D, Tiana M. Scott, Mauro Longoni, Bult Cj, Patricia K. Donahoe, Barbara R. Pober, Frances A. High, Rebecca Hernan, Maria Loscertales, Yufeng Shen, Daryl A. Scott, Devisme L, Dysart Mj, Daniel G. Calame, Hu H

مصطلحات موضوعية: Genetics, Stress fiber, PLS3, medicine, Missense mutation, Congenital diaphragmatic hernia, Biology, medicine.disease, Actin cytoskeleton, Phenotype, Exome, Actin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1b87ddad8d2b0da56dd83ec489239f18
https://doi.org/10.1101/2021.07.07.21259278

المؤلفون: Xin Sun, Timothy M. Crombleholme, Lan Yu, Douglas A. Potoka, Lu Qiao, Julie Khlevner, Julia Wynn, Xueya Zhou, Mahmoud Elfiky, Howard Needelman, Usha Krishnan, Melissa E. Danko, Patricia K. Donahoe, Wendy K. Chung, Dai Chung, Annette Zygmunt, Robert A. Cusick, Amy J. Wagner, David T. Schindel, Le Xu, Elizabeth A. Fialkowski, Samuel Z. Soffer, Aliva De, George B. Mychaliska, Christiana Farkouh-Karoleski, David J. McCulley, Gudrun Aspelund, Yufeng Shen, Vincent Duron, Brad W. Warner, Rebecca Hernan, Jill M. Zalieckas, Lyon Jb, Frances A. High, Kenneth S. Azarow, Foong-Yen Lim, Badri N. Vardarajan, Przemyslaw Kosinski

مصطلحات موضوعية: Proband, Genetics, education.field_of_study, Lung, Population, Congenital diaphragmatic hernia, Risk gene, Biology, medicine.disease, Phenotype, Pathogenesis, medicine.anatomical_structure, medicine, education, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1d4ea30e246cfdf1ba1f0678afa40173
https://doi.org/10.1101/2021.06.01.21257928

المؤلفون: Julie Khlevner, Julia Wynn, Frances A. High, Usha Krishnan, Aliva De, Xin Sun, Jane B. Lyon, Lan Yu, David J. McCulley, Howard Needelman, Gudrun Aspelund, Yufeng Shen, Timothy M. Crombleholme, Elizabeth A. Fialkowski, Kenneth S. Azarow, Rebecca Hernan, Vincent Duron, Le Xu, Christiana Farkouh-Karoleski, Douglas A. Potoka, Foong-Yen Lim, Xueya Zhou, Brad W. Warner, Dai Chung, Mahmoud Elfiky, Jill M. Zalieckas, Samuel Z. Soffer, David T. Schindel, Melissa E. Danko, Wendy K. Chung, Badri N. Vardarajan, Patricia K. Donahoe, Przemyslaw Kosinski, Amy J. Wagner, Lu Qiao, Robert A. Cusick, George B. Mychaliska, Annette Zygmunt

المصدر: Am J Hum Genet
American journal of human genetics, vol 108, iss 10

مصطلحات موضوعية: Proband, Male, Inbred C57BL, Medical and Health Sciences, congenital diaphragmatic hernia, Pathogenesis, Cohort Studies, Craniofacial Abnormalities, Congenital, Mice, ATP-Dependent Proteases, Infant Mortality, Hip Dislocation, 2.1 Biological and endogenous factors, Eye Abnormalities, Aetiology, de novo variants, Lung, Genetics (clinical), Growth Disorders, Hernias, Genetics, Pediatric, Genetics & Heredity, Mice, Knockout, LONP1, High mortality, Biological Sciences, Phenotype, Pedigree, medicine.anatomical_structure, Female, DNA Copy Number Variations, Knockout, Mutation, Missense, Risk gene, Biology, Osteochondrodysplasias, Article, Mitochondrial Proteins, Rare Diseases, Clinical Research, medicine, Animals, Humans, Gene, Hip Dislocation, Congenital, Tooth Abnormalities, Human Genome, Congenital diaphragmatic hernia, Perinatal Period - Conditions Originating in Perinatal Period, medicine.disease, Mice, Inbred C57BL, Good Health and Well Being, ALYREF, Case-Control Studies, Mutation, Congenital Structural Anomalies, Missense, Digestive Diseases, Hernias, Diaphragmatic, Congenital, Diaphragmatic

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf382c0e07d70e5f647e45b2f6b1230
https://pubmed.ncbi.nlm.nih.gov/34547244

المؤلفون: Lydie Burglen, Michael F. Wangler, Leila Qebibo, Dimitri Krainc, Hilde Van Esch, Niccolo E. Mencacci, Pascal Joset, Henry Houlden, Christopher Carroll, Claudia Ravelli, Frances A. High, Linyan Meng, Jill V. Hunter, Anu Suomalainen, Dana Marafi, Shen Gu, Katleen Ballon, Scott E. Hickey, Nebal Waill Saadi, Yunru Shao, Bernabé I. Bustos, James R. Lupski, Pirjo Isohanni, Stephanie M. Brooks, Paulina Gonzalez-Latapi, Fatima Rahman, Reza Maroofian, Chiara De Luca, Stephanie Efthymiou, Jasem Y. Al-Hashel, Tadahiro Mitani, Steven J. Lubbe, Brett H. Graham, Yavuz Sahin, Katharina Steindl, Shazia Maqbool, Davut Pehlivan, Alejandro V. Hernandez, Amy Armstrong-Javors, Daniel G. Calame, Annette Hackenberg, Jennifer E. Posey, Anita Rauch, Walaa A. Kamel, Yaping Yang

المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Children's Hospital, Clinicum, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Lastenneurologian yksikkö, Helsinki University Hospital Area, HUS Helsinki and Uusimaa Hospital District, FinMIT Centre of Excellence (Wartiovaara Anu)

المصدر: Annals of neurologyReferences. 89(4)

مصطلحات موضوعية: 0301 basic medicine, Adult, Cerebellum, Adolescent, Developmental Disabilities, Biology, Nervous System Malformations, 3124 Neurology and psychiatry, Cataract, 03 medical and health sciences, 0302 clinical medicine, Mediator, Intellectual disability, Exome Sequencing, medicine, Humans, Global developmental delay, Amino Acid Sequence, Child, Cerebellar hypoplasia, Exome sequencing, Dystonia, Genetics, Epilepsy, Mediator Complex, 3112 Neurosciences, Genetic Variation, Infant, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Neurology, Child, Preschool, Neurology (clinical), Neural development, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c53708b47ca6eae9df6b9ef89532ae
https://pubmed.ncbi.nlm.nih.gov/33443317

المؤلفون: Lauren C, Briere, Melissa A, Walker, Frances A, High, Cynthia, Cooper, Cassandra A, Rogers, Christine J, Callahan, Ryosuke, Ishimura, Yoshinobu, Ichimura, Paul A, Caruso, Nutan, Sharma, Elly, Brokamp, Mary E, Koziura, Shekeeb S, Mohammad, Russell C, Dale, Lisa G, Riley, John A, Phillips, Masaaki, Komatsu, Stephan, Zuchner

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Male, Research Report, Epilepsy, Adolescent, limb hypertonia, Mutation, Missense, Brain, Proteins, Ubiquitin-Activating Enzymes, profound global developmental delay, Cohort Studies, Young Adult, HEK293 Cells, Phenotype, epileptic encephalopathy, generalized dystonia, Humans, Muscle Hypotonia, Female, Child, central hypotonia, Spasms, Infantile, severe global developmental delay, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6380ad6099aa41c948186972c7bd55a5
https://pubmed.ncbi.nlm.nih.gov/33811063

المؤلفون: Lauren Bellfy, Mallory Ryan, Mauro Longoni, Charles Lee, M. P. Joy, Patricia K. Donahoe, Chengsheng Zhang, Pooja Bhayani, Meaghan K. Russell, Eliza Cerveira, Caroline Coletti, Adam Mil-homens, Regis Hila, Qihui Zhu, Jay M. Wilson, Frances A. High

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: Genetic Markers, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, DNA Copy Number Variations, endocrine system diseases, CNV, Biology, Polymorphism, Single Nucleotide, congenital diaphragmatic hernia, 03 medical and health sciences, customized array, mental disorders, Genetics, medicine, Humans, copy number variant, Copy-number variation, Gene, Comparative Genomic Hybridization, Multidisciplinary, Case-control study, Congenital diaphragmatic hernia, Biological Sciences, Prognosis, HNF1B, medicine.disease, Hypoplasia, birth defects, 030104 developmental biology, Case-Control Studies, Hernias, Diaphragmatic, Congenital, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4dfc1dfadbde1c5d89e0a28a93232e
https://doi.org/10.1073/pnas.1714885115

المؤلفون: Frances A. High, Stephanie L. Santoro, Iris Gutmark-Little, Angela E. Lin, Paula Goldenberg

المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(1)

مصطلحات موضوعية: Heart Defects, Congenital, Male, Down syndrome, Pediatrics, medicine.medical_specialty, Trisomy 13 Syndrome, Aneuploidy, Chromosome Disorders, Klinefelter Syndrome, Pregnancy, Prenatal Diagnosis, Turner syndrome, Genetics, medicine, Humans, Genetics (clinical), business.industry, Infant, medicine.disease, Natural history, Child, Preschool, Karyotyping, Chromosome abnormality, Female, Klinefelter syndrome, Down Syndrome, business, Trisomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dfaac90869fc4aa1734a7c92950e4f5
https://pubmed.ncbi.nlm.nih.gov/31868316

المؤلفون: David A. Sweetser, Nutan Sharma, Elly Brokamp, Melissa A. Walker, Lisa G. Riley, Shekeeb S. Mohammad, Russell C. Dale, Frances A. High, Ryosuke Ishimura, Lauren C. Briere, Yoshinobu Ichimura, Mary Koziura, Cynthia M. Cooper, Masaaki Komatsu, Paul A. Caruso, Cassandra A Rogers, Christine J Callahan, John A. Phillips

المصدر: Molecular Case Studies. 7:a005827

مصطلحات موضوعية: Dystonia, Genetics, Epilepsy, Genotype, medicine, Missense mutation, General Medicine, Global developmental delay, Biology, medicine.disease, Compound heterozygosity, Gene, Phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b5a82de83066891e2ecb745b41807f83
https://doi.org/10.1101/mcs.a005827