Search Results - "Poss, Alexis"

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium by Suckiel, Sabrina A, O'Daniel, Julianne M, Donohue, Katherine E, Gallagher, Katie M, Gilmore, Marian J, Hendon, Laura G, Joseph, Galen, Lianoglou, Billie R, Mathews, Jennifer M, Norton, Mary E, Odgis, Jacqueline A, Poss, Alexis F, Rego, Shannon, Scollon, Sarah, Yip, Tiffany, Amendola, Laura M

“…Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing…”
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eP115 - A novel AIFM1 pathogenic variant in a teenage male with recurrent joint dislocations and acrogeria by Poss, Alexis, Smith, Laurie, Sevrioukova, Irina, Calikoglu, Muge Gucsavas

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A novel AIFM1 pathogenic variant in a teenage male with recurrent joint dislocations and acrogeria by Poss, Alexis, Smith, Laurie, Sevrioukova, Irina, Calikoglu, Muge Gucsavas

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Clinical experience with array CGH: Case presentations from nine months of practice by Poss, Alexis F., Goldenberg, Paula C., Rehder, Catherine W., Kearney, Hutton M., Melvin, Elizabeth C., Koeberl, Dwight D., McDonald, Marie T.

“…A total of 124 individuals were tested in the initial 9 months that array CGH technology was offered to clinical genetics patients. In 11 of these patients…”
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Genomic sequencing results disclosure in diverse and underserved populations: themes, challenges and strategies from the CSER Consortium by Amendola, Laura, Suckiel, Sabrina A., O’Daniel, Julianne, Donohue, Katherine, Gallagher, Katie, Gilmore, Marian, Hendon, Laura, Joseph, Galen, Lianoglou, Billie, Mathews, Jennifer M., Norton, Mary, Ogdis, Jaqueline, Poss, Alexis, Rego, Shannon, Scollon, Sarah, Yip, Tiffany

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eP317 - Genomic sequencing results disclosure in diverse and underserved populations: themes, challenges and strategies from the CSER Consortium by Amendola, Laura, Suckiel, Sabrina A., O’Daniel, Julianne, Donohue, Katherine, Gallagher, Katie, Gilmore, Marian, Hendon, Laura, Joseph, Galen, Lianoglou, Billie, Mathews, Jennifer M., Norton, Mary, Ogdis, Jaqueline, Poss, Alexis, Rego, Shannon, Scollon, Sarah, Yip, Tiffany

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2. Two patients demonstrating the rare phenomenon of rod/ring mosaicism by Strande, Natasha T., Hayden, Melissa A., Poss, Alexis F., Turcott, Christie M., Pandya, Arti, Aylsworth, Arthur S., Rao, Kathleen W., Kaiser-Rogers, Kathleen

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Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway by Allanson, Judith, Kavamura, Ines, Neri, Giovanni, Noonan, Jacqueline, Poss, Alexis, Kerr, Bronwyn

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Meier-Gorlin syndrome: Report of eight additional cases and review by Bongers, Ernie M.H.F., Opitz, John M., Fryer, Alan, Sarda, Pierre, Hennekam, Raoul C.M., Hall, Brian D., Superneau, Duane W., Harbison, Madeline, Poss, Alexis, Bokhoven, Hans van, Hamel, Ben C.J., Knoers, Nine V.A.M.

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Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway by Allanson, Judith, Kavamura, Ines, Neri, Giovanni, Noonan, Jacqueline, Poss, Alexis, Kerr, Bronwyn

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Meier‐Gorlin syndrome: Report of eight additional cases and review by Bongers, Ernie M.H.F., Opitz, John M., Fryer, Alan, Sarda, Pierre, Hennekam, Raoul C.M., Hall, Brian D., Superneau, Duane W., Harbison, Madeline, Poss, Alexis, Bokhoven, Hans van, Hamel, Ben C.J., Knoers, Nine V.A.M.

“…The Meier‐Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of…”
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Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? by Bohring, Axel, Silengo, Margherita, Lerone, Margherita, Superneau, Duane W., Spaich, Christiane, Braddock, Stephen R., Poss, Alexis, Opitz, John M.

“…We report on four unrelated cases of an Opitz trigonocephaly (C)‐like syndrome with a highly characteristic combination of facial anomalies including prominent…”
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