Chanika Phornphutkul

基本信息

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职业迁徙

个人简介

She is the member of Newborn Screening Task Force, advising RI Department of Health. She is also site principal investigator for several clinical trials for rare disorders at Rhode Island Hospital.

研究兴趣

论文共 92 篇作者统计合作学者相似作者

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Noonan Syndrome and Celiac Disease in an Adolescent with Short Stature and Delayed Puberty

Justin Lee,Sabitha Sasidharan Pillai,Avani Ganta,Chanika Phornphutkul,Jose Bernardo Quintos

AACE Clinical Case Reports (2024)

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Sureni V. Mullegama,Kaitlyn A. Kiernan,Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao,Joseph T. Alaimo,Kendra Engleman,Eric T. Rush, Karli Blocker,Katrina M. Dipple,

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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N-acetylneuraminate pyruvate lyase deficiency: An emerging metabolic disorder of sialic acid catabolism

Brooke Horowitch,Chanika Phornphutkul, William Brown, William Brucker

Molecular Genetics and Metabolismno. 4 (2024): 108329

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (vol 111, pg 778, 2024)

Sureni V. Mullegama, Kaitlyn A. Kiernan,Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao,Joseph T. Alaimo, Kendra Engleman,Eric T. Rush, Karli Blocker,Katrina M. Dipple,

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1240-1240

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Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stephanie Efthymiou, Cailyn Leo, Chenghong Deng,Kejia Zhang,Sheng-Jia Lin, Reza Maroofian,Rauan Kaiyrzhanov, Renee Qing Lin, Irem Karagoz, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti,

medrxiv（2024）

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Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease