Search Results - "Kopinsky, Sarina"

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study by Amlie‐Wolf, Louise, Bardakjian, Tanya, Kopinsky, Sarina M., Reis, Linda M., Semina, Elena V., Schneider, Adele

“…SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2…”
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SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum by Okoye, Onochie, Capasso, Jenina, Kopinsky, Sarina M., Amlie‐Wolf, Louise, Levin, Alex V., Schneider, Adele

“…SOX2 pathogenic variants, though rare, constitute the most commonly known genetic cause of clinical anophthalmia and microphthalmia. However, patients without…”
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A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 ( GDF3 ) in a female with unilateral anophthalmia and skeletal anomalies by Bardakjian, Tanya, Krall, Max, Wu, Di, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Kopinsky, Sarina, Schneider, Adele, Kwok, Pui-yan, Slavotinek, Anne

“…Abstract Purpose The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor…”
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Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis by Albakri, Amani, Pisuchpen, Phattrawan, Capasso, Jenina E., Schneider, Adele, Kopinsky, Sarina, Glaser, Tom, Chiang, John P.‐W., Yomai, Anamaria Akapito, McNear, Donna, Levin, Alex V.

“…The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this…”
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Leber congenital amaurosis in Chuuk, Federated States of Micronesia by Albakri, Amani S., Capasso, Jenina, Kopinsky, Sarina, Glaser, Tom, Yomai, Anamaria, Chiang, John, Schneider, Adele, Levin, Alex V.

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Ophthalmic manifestations associated with RARB mutations by Wangtiraumnuay, Nutsuchar, Kopinsky, Sarina, Iyer, Prashanth, Capasso, Jenina, Whitehead, Rick, Schneider, Adele, Levin, Alex V

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“Value‐based directiveness” in genetic counseling by Kopinsky, Sarina M., Kessler, Seymour

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SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum by Okoye, Onochie, Capasso, Jenina, Kopinsky, Sarina M, Amlie-Wolf, Louise, Levin, Alex V, Schneider, Adele

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Niflings are nephews and nieces by Kopinsky, Sarina M.

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A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies by Bardakjian, Tanya, Krall, Max, Wu, Di, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Kopinsky, Sarina, Schneider, Adele, Kwok, Pui-Yan, Slavotinek, Anne

“…PURPOSEThe genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 (GDF3)…”
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