HGVS Recommendations for the Description of Sequence Variants: 2016 Update von den Dunnen, Johan T., Dalgleish, Raymond, Maglott, Donna R., Hart, Reece K., Greenblatt, Marc S., McGowan-Jordan, Jean, Roux, Anne-Francoise, Smith, Timothy, Antonarakis, Stylianos E., Taschner, Peter E.M.

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Porokeratotic eccrine ostial and dermal duct nevus associated with an 11 megabase 3p deletion von Castle, Alison M. R., Ramien, Michele L., Kanigsberg, Nordau, El Demellawy, Dina, McGowan‐Jordan, Jean, Beaulieu Bergeron, Melanie, Armour, Christine M.

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Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines von Chisholm, Caitlin, Daoud, Hussein, Ghani, Mahdi, Mettler, Gabrielle, McGowan-Jordan, Jean, Sinclair-Bourque, Liz, Smith, Amanda, Jarinova, Olga

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ALU transposition induces familial hypertrophic cardiomyopathy von Nfonsam, Landry, Huang, Lijia, Carson, Nancy, McGowan‐Jordan, Jean, Beaulieu Bergeron, Melanie, Goobie, Sharan, Conacher, Susan, McCarty, David, Benson, Lee, Hewson, Stacy, Zahavich, Laura, Sinclair‐Bourque, Elizabeth, Smith, Amanda, Potter, Ryan, Ghani, Mahdi, Bronicki, Lucas, Jarinova, Olga

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P375: Case study: Germline chromoanagenesis associated with global developmental delay, dysmorphic features and failure to thrive von Bhola, Priya, Marshall, Aren, Bergeron, Melanie Beaulieu, Boycott, Kym, McGowan-Jordan, Jean

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Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome? von Yu, Andrea C., Zambrano, Regina M., Cristian, Ingrid, Price, Sue, Bernhard, Birgitta, Zucker, Marc, Venkateswaran, Sunita, McGowan‐Jordan, Jean, Armour, Christine M.

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P642: Development and deployment of clinical genome sequencing using a cloud-based platform von Lau, Lynette, Higginbotham, Edward, Sung, Wilson, Sriretnakumar, Venuja, Curtis, Meredith, Chisholm, Caitlin, Gillespie, Meredith, Pan, Anna, Kim, Sean, Simko, Sean, Price, E. Magda, Eliou, Marianne, Szuto, Anna, Axford, Michelle, Somerville, Martin, Boycott, Kym, McGowan-Jordan, Jean, Bergeron, Melaine Beaulieu, Stavropoulos, James, Huang, Lijia, Marshall, Christian

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The detection of chromosome anomalies by QF-PCR and residual risks as compared to G-banded analysis von Speevak, Marsha D., McGowan-Jordan, Jean, Chun, Kathy

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Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism von Al‐Hertani, Walla, McGowan‐Jordan, Jean, Allanson, Judith E.

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Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications von Grams, Sarah E., Argiropoulos, Bob, Lines, Matthew, Chakraborty, Pranesh, Mcgowan-Jordan, Jean, Geraghty, Michael T., Tsang, Marilyn, Eswara, Marthand, Tezcan, Kamer, Adams, Kelly L., Linck, Leesa, Himes, Patricia, Kostiner, Dana, Zand, Dina J., Stalker, Heather, Driscoll, Daniel J., Huang, Taosheng, Rosenfeld, Jill A., Li, Xu, Chen, Emily

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Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree von Honeywell, Christina, Argiropoulos, Bob, Douglas, Stuart, Blumenthal, Andrea L., Allanson, Judith, McGowan-Jordan, Jean, McCready, M. Elizabeth

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Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype von Allanson, Judith, Smith, Amanda, Hare, Heather, Albrecht, Beate, Bijlsma, Emilia, Dallapiccola, Bruno, Donti, Emilio, Fitzpatrick, David, Isidor, Bertrand, Lachlan, Katherine, Le Caignec, Cedric, Prontera, Paolo, Raas-Rothschild, Annick, Rogaia, Daniela, van Bon, Bregje, Aradhya, Swaroop, Crocker, Susan F., Jarinova, Olga, McGowan-Jordan, Jean, Boycott, Kym, Bulman, Dennis, Fagerberg, Christina Ringmann

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Re: International System for Human Cytogenetic or Cytogenomic Nomenclature (ISCN): Some Thoughts, by T. Liehr von McGowan-Jordan, Jean, Hastings, Ros, Moore, Sarah

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Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication von Argiropoulos, Bob, Carter, Melissa, Brierley, Kathy, Hare, Heather, Bouchard, Amélie, Al‐Hertani, Walla, Ryan, Shannon R., Reid, Judith, Basik, Mark, McGowan‐Jordan, Jean, Graham, Gail E.

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Addenda to ISCN 2020 von Hastings, Ros, McGowan-Jordan, Jean, Moore, Sarah

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MDS with isolated del(5q) and internuclear bridging von Xu, Zhaodong, McGowan-Jordan, Jean

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CML with complex chromosome rearrangements and dysplastic megakaryocytes von Xu, Zhaodong, McGowan-Jordan, Jean

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De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype von Armstrong, Linlea, McGowan‐Jordan, Jean, Brierley, Kathleen, Allanson, Judith E.

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Prenatal cytogenetic assessment and inv(2)(p11.2q13) von Hysert, Meaghan, Bruyère, Hélène, Côté, Gilbert B., Dawson, Angelika J., Dolling, Jo-Anna, Fetni, Raouf, Hrynchak, Monica, Lavoie, Josée, McGowan-Jordan, Jean, Tihy, Frédérique, Duncan, Alessandra M. V.

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Update on molecular findings in rhabdomyosarcoma von El Demellawy, Dina, McGowan-Jordan, Jean, de Nanassy, Joseph, Chernetsova, Elizaveta, Nasr, Ahmed

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