Chanika Phornphutkul

Also affiliated with Hasbro Children's Hospital

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 11 papers. Top paper: “Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder”.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0.598DataRank · unranked

53 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1809

N/A

0DataRank · unranked

14 citations

Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott +40 more

Sporadic uterine Lymphangioleiomyomatosis (LAM): Report of a unique case arising in the lower uterine segment with short review

Gynecologic Oncology Reports(2021)10.1016/j.gore.2021.100812

N/A

0DataRank · unranked

5 citations

Sara Maleki, Bradley DeNardo, Don S. Dizon, Chanika Phornphutkul, Kamaljeet Singh +1 more

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Human Molecular Genetics(2022)10.1093/hmg/ddac114

N/A

0DataRank · unranked

17 citations

Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne‐Sophie Denommé‐Pichon, Boris Keren +43 more

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63049

N/A

0DataRank · unranked

13 citations

Leah Fleming, Anna Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte +12 more

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

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.108119

N/A

0DataRank · unranked

22 citations

Aditi Korlimarla, Gail A. Spiridigliozzi, Walter F. Wiggins, Michael D. Malinzak, Gretchen Nichting +9 more

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

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.016

N/A

0DataRank · unranked

5 citations

Kaitlyn Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula +35 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

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

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Clinical Genetics(2020)10.1111/cge.13877

N/A

0DataRank · unranked

11 citations

Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana Chilton +7 more

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

Brain(2025)10.1093/brain/awaf212

N/A

0DataRank · unranked

3 citations

M. Kathryn Barton, Katherine A. Lynch, Ashish R. Deshwar, Philip D. Campbell, Josephine Millard +49 more