Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Authors: Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F

Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 70 (2012)

Subject Terms: Schimke immuno-osseous dysplasia, SMARCAL1, Elastin, Vascular disease, Pulmonary emphysema, Medicine

File Description: electronic resource

Relation: http://www.ojrd.com/content/7/1/70; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d09043e0cde94048b164e22867785031

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Authors: Rosik Tomas, Simankova Nadezda, Dusek Jiri, Seeman Tomas, Sukova Martina, Balascakova Miroslava, Guillén-Navarro Encarna, Levtchenko Elena, Baradaran-Heravi Alireza, Krepelova Anna, Zieg Jakub, Skalova Sylva, Lebl Jan, Boerkoel Cornelius F

Source: Pediatric Rheumatology Online Journal, Vol 9, Iss 1, p 27 (2011)

Subject Terms: Schimke immuno, osseous dysplasia, Unilateral renal agenesis, Nephrotic syndrome, Evans syndrome, Rituximab, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://www.ped-rheum.com/content/9/1/27; https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/f23ed02df2c3487caa30decac839a4e1

Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?

Authors: Moller‐Hansen, Ashley, Hejla, Duha, Lee, Hyun Kyung, Lyles, Jenea Barbara, Yang, Yunhan, Chen, Kun, Li, Wenhui Laura, Thomas, Gary, Boerkoel, Cornelius F.

Source: American journal of medical genetics.Part A. 191(8):2181-2187

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191121764.0x000001&indx=1&recIds=ETOCvdc_100191121764.0x000001

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder

Authors: Sage, Adam P., Lee, Hyun Kyung, Dalmann, Joshua, Lin, Susan, Samra, Simran, Salman, Areesha, Del Bel, Kate L., Li, Wenhui Laura, Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Richmond, Phillip A.

Source: American journal of medical genetics.Part A. 191(8):2219-2224

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191123189.0x000001&indx=1&recIds=ETOCvdc_100191123189.0x000001

NOTCH1 loss of the TAD and PEST domain: An antimorph?

Authors: Boerkoel, Pierre, Huynh, Stephanie, Yang, Gui Xiang, Boerkoel, Cornelius F., Patel, Millan S., Lehman, Anna, Terry, Jefferson, Elbert, Adrienne

Source: American journal of medical genetics.Part A. 191(6):1593-1598

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184363380.0x000001&indx=1&recIds=ETOCvdc_100184363380.0x000001

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Authors: Li H Irene, Lemyre Emmanuelle, Langlois Sylvie, Gibson William T, Flibotte Stephane, Delaney Allen D, Chai David, Chan Susanna, Boerkoel Cornelius, Birch Patricia, Baross Agnes, Armstrong Linlea, Arbour Laura, Adam Shelin, Friedman JM, MacLeod Patrick, Mathers Joan, Michaud Jacques L, McGillivray Barbara C, Patel Millan S, Qian Hong, Rouleau Guy A, Van Allen Margot I, Yong Siu-Li, Zahir Farah R, Eydoux Patrice, Marra Marco A

Source: BMC Genomics, Vol 10, Iss 1, p 526 (2009)

Subject Terms: Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2164/10/526; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/f4c731e301114efe9e880d23b03d48d4

Impact of Variation in Practice in the Prenatal Reporting of Variants of Uncertain Significance by Commercial Laboratories: Need for Greater Adherence to Published Guidelines

Authors: Cornthwaite, Melissa, Turner, Kelly, Armstrong, Linlea, Boerkoel, Cornelius F., Chang, Caitlin, Lehman, Anna, Nikkel, Sarah M., Patel, Millan S., van Allen, Margot, Langlois, Sylvie

Source: Obstetrical & gynecological survey. 78(5):266-268

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190017125.0x000001&indx=1&recIds=ETOCvdc_100190017125.0x000001

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

Authors: Chin, Hui‐Lin, Huynh, Stephanie, Ashkani, Jahanshah, Castaldo, Michael, Dixon, Katherine, Selby, Kathryn, Shen, Yaoqing, Wright, Marie, Boerkoel, Cornelius F., Hendson, Glenda, Jones, Steven J. M.

Source: American journal of medical genetics.Part A. 188(3):926-930

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140903186.0x000001&indx=1&recIds=ETOCvdc_100140903186.0x000001

Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease

Authors: Moller‐Hansen, Ashley, Huynh, Stephanie, Boerkoel, Cornelius F., Chin, Hui‐Lin

Source: American journal of medical genetics.Part A. 188(1):332-335

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100137168058.0x000001&indx=1&recIds=ETOCvdc_100137168058.0x000001

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

Authors: Gazzaz, Nour, Frost, F. Graeme, Alderman, Emily, Richmond, Phillip A., Dalmann, Joshua, Lin, Susan, Salman, Areesha, Del Bel, Kate L., Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Cherukuri, Praveen F.

Source: American journal of medical genetics.Part A. 188(10):3089-3095

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166440841.0x000001&indx=1&recIds=ETOCvdc_100166440841.0x000001

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines

Authors: Cornthwaite, Melissa, Turner, Kelly, Armstrong, Linlea, Boerkoel, Cornelius F., Chang, Caitlin, Lehman, Anna, Nikkel, Sarah M., Patel, Millan S., Van Allen, Margot, Langlois, Sylvie

Source: Prenatal diagnosis. 42(12):1514-1524

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165168322.0x000001&indx=1&recIds=ETOCvdc_100165168322.0x000001

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Authors: Boerkoel, Pierre K., Dixon, Katherine, Fitzsimons, Carrie, Shen, Yaoqing, Huynh, Stephanie, Schlade‐Bartusiak, Kamilla, Culibrk, Luka, Chan, Simon, Boerkoel, Cornelius F., Jones, Steven J. M., Chin, Hui‐Lin

Source: American journal of medical genetics.Part A. 188(5):1589-1594

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146659044.0x000001&indx=1&recIds=ETOCvdc_100146659044.0x000001

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Authors: Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.

Source: In Human Genetics and Genomics Advances 14 July 2022 3(3)

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

Authors: Chin, Hui-Lin, Gazzaz, Nour, Huynh, Stephanie, Handra, Iulia, Warnock, Lynn, Moller-Hansen, Ashley, Boerkoel, Pierre, Jacobsen, Julius O.B., du Souich, Christèle, Zhang, Nan, Shefchek, Kent, Prentice, Leah M., Washington, Nicole, Haendel, Melissa, Armstrong, Linlea, Clarke, Lorne, Li, Wenhui Laura, Smedley, Damian, Robinson, Peter N., Boerkoel, Cornelius F.

Source: In Genetics in Medicine July 2022 24(7):1512-1522

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.

Authors: Akbari, Vahid, Dada, Sarah, Yaoqing Shen, Dixon, Katherine, Hejla, Duha, Galbraith, Andrew, Choufani, Sanaa, Weksberg, Rosanna, Boerkoel, Cornelius F., Stewart, Laura, Gibson, William T., Jones, Steven J. M.

Source: Journal of Medical Genetics; Jan2025, Vol. 62 Issue 1, p32-36, 5p

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

Authors: Chin, Hui-Lin, Lin, Susan, Dalmann, Joshua, Modi, Bhavi, Alderman, Emily, Salman, Areesha, Del Bel, Kate L., Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F.

Source: In European Journal of Medical Genetics March 2022 65(3)

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Authors: Duncan, Anna R., Polovitskaya, Maya M., Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E., Grant, Patricia E., O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M., Agolini, Emanuele, Madden, Jill A., Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F., Seath, Kimberly, Clarke, Lorne, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H., Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J., Pusch, Michael, Agrawal, Pankaj B.

Source: In The American Journal of Human Genetics 5 August 2021 108(8):1450-1465

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

Authors: Chin, Hui‐Lin, O'Neill, Kieran, Louie, Kristal, Brown, Lindsay, Schlade‐Bartusiak, Kamilla, Eydoux, Patrice, Rupps, Rosemarie, Farahani, Ali, Boerkoel, Cornelius F., Jones, Steven J. M.

Source: American journal of medical genetics.Part A. 185(8):2541-2545

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134462470.0x000001&indx=1&recIds=ETOCvdc_100134462470.0x000001

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Glycomics in rare diseases: from diagnosis tomechanism

Authors: Davids, Mariska, Kane, Megan S., Wolfe, Lynne A., Toro, Camilo, Tifft, Cynthia J., Adams, David, Li, Xueli, Raihan, Mohd A., He, Miao, Gahl, William A., Boerkoel, Cornelius F., Malicdan, May Christine V.

Source: In Translational Research April 2019 206:5-17