Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome

Autor: Monica Penon-Portmann, Colleen M. Carlston, Pierre-Marie Martin, Anne Slavotinek

Publikováno v: Molecular Syndromology. :1-6

Witteveen-Kolk syndrome (WITKOS; OMIM #613406) is a recently described, rare neurodevelopmental syndrome characterized by mild intellectual disability and a recognizable facial gestalt. WITKOS is caused by heterozygous loss-of-function variants in SI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bae4ac6a81f67e71510787740af2dd1b
https://doi.org/10.1159/000520042

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Autor: Kerith-Rae Dias, Colleen M. Carlston, Laura E.R. Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally Ann Lynch, Catherine Moorwood, Karen Stals, Sian Ellard, Matthew N. Bainbridge, Jennifer Friedman, John G. Pappas, Rachel Rabin, Catherine B. Nowak, Jessica Douglas, Theodore E. Wilson, Maria J. Guillen Sacoto, Sureni V. Mullegama, Timothy Blake Palculict, Edwin P. Kirk, Jason R. Pinner, Matthew Edwards, Francesca Montanari, Claudio Graziano, Tommaso Pippucci, Bri Dingmann, Ian Glass, Heather C. Mefford, Takeyoshi Shimoji, Toshimitsu Suzuki, Kazuhiro Yamakawa, Haley Streff, Christian P. Schaaf, Anne M. Slavotinek, Irina Voineagu, John C. Carey, Michael F. Buckley, Annette Schenck, Robert J. Harvey, Tony Roscioli

Publikováno v: Genetics in Medicine, 24, 9, pp. 1952-1966
Genetics in Medicine, 24, 1952-1966

ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e563459923c72f6a18b3c67d0dbc388
https://pubmed.ncbi.nlm.nih.gov/35916866

SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals

Autor: Jesse M. Hunter, Mary S. Willis, Bryce A. Mendelsohn, Sha Tang, Carlos A. Bacino, Eric Vilain, Hane Lee, Jill A. Rosenfeld, Delphine Héron, Tyler Mark Pierson, Zöe Powis, Shenela Lakhani, Naghmeh Dorrani, Lorenzo D. Botto, Maria J. Guillen Sacoto, Jaclyn Haven, Julie S. Cohen, Trine Bjørg Hammer, Bobby G. Ng, Charles Marques Lourenço, Rita Barone, Jennifer Burton, Ingrid E. Scheffer, Wendy G. Mitchell, Pasquale Striano, Stephanie Grunewald, Stanley F. Nelson, Nicola Longo, Jane Juusola, Fernando Scaglia, Christopher C.Y. Mak, Hudson H. Freeze, Shoji Yano, Leon G. Epstein, Arthur Partikian, Domenico Garozzo, Mohammed Almannai, Joy Lee, Hui Yang, Dianalee McKnight, Abdallah F. Elias, William A. Gahl, Nilika S. Singhal, Christina G.S. Palmer, Devorah Segal, Andrew C. Edmondson, George E. Hoganson, Cyril Mignot, Brian H.Y. Chung, Colleen M. Carlston, Mahim Jain, M. Elizabeth Ross, Paulina Sosicka, David Coman, Sharon F. Suchy, Shane C. Quinonez, Ghayda M. Mirzaa, Katrina M. Dipple, Satish Agadi, Joseph D. Symonds, Lynne A. Wolfe, Marc C. Patterson, Brigid M. Regan, Luisa Sturiale, Mariusz Olczak, Hiltrud Muhle, Katherine Lewis, William B. Dobyns, Matthew R. Herzog

Publikováno v: Hum Mutat
Human mutation 40 (2019): 908–925. doi:10.1002/humu.23731
info:cnr-pdr/source/autori:Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H./titolo:SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals/doi:10.1002%2Fhumu.23731/rivista:Human mutation/anno:2019/pagina_da:908/pagina_a:925/intervallo_pagine:908–925/volume:40
Human mutation, vol 40, iss 7

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-conge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af2458f68aa4fcb5c281dc0138ea0bd4
https://europepmc.org/articles/PMC6661012/

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

Autor: John C. Carey, Janice C. Palumbos, Colleen M. Carlston, Oliver H. Tam, David Viskochil, Heather J. Stalker, Desiree DeMille, Rong Mao, Roberto T. Zori, Albert H. Park

Publikováno v: American journal of medical genetics. Part A. 176(4)

Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8967f86edea8618f5cb0e8e847d9b359
https://pubmed.ncbi.nlm.nih.gov/29575629

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Autor: Tatiana Tvrdik, Anne H. O’Donnell-Luria, Daniel P. Birnbaum, Beryl B. Cummings, Daniel G. MacArthur, Rong Mao, Colleen M. Carlston, Hunter R. Underhill, Ben Weisburd, Eric Vallabh Minikel

The interpretation of genetic variants identified during clinical sequencing has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC). Genuinely pathogenic variants, particularly in genes associated w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a42d0e20cba494c3fca6f3dcfcb7c34a