Pamela Ajuyah

broad institute of mit and harvard

H指数:9

被引数:266

个人简介

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荣誉奖项

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Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen

肾小球表型的基因-疾病关系: ClinGen的专家建议

Nature Reviews Nephrology

IF39.8

2026-05-210

PRE

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

ClinGen对听力损失相关基因的再注释表明基因-疾病有效性随时间发生显著变化

Genetics in Medicine

IF6.2

2025-09-070

PREAI

Kezang C. Tshering; Marina T. DiStefano; Andrea M. Oza; Pamela Ajuyah; Ryan Webb; Enyonam Edoh; Ellie Broeren; Julie Ratliff; Vanessa Gitau; Kelley Paris; Amal Aburyyan; John Alexander; Victoria Albano; Donglin Bai; Kevin T.A. Booth; Paula I. Buonfiglio; Cherine Charfeddine; Viviana Dalamón; Ignacio del Castillo; Miguel Angel Moreno-Pelayo; Hatice Duzkale; Ben Dorshorst; Rabia Faridi; Margaret Kenna; Morag A. Lewis; Minjie Luo; Yu Lu; Rahma Mkaouar; Tatsuo Matsunaga; Kiyomitsu Nara; Arti Pandya; Shelby Redfield; Isabelle Roux; Lisa A. Schimmenti; Isabelle Schrauwen; Sherin Shaaban; Jun Shen; Barbara Vona; Richard J. Smith; Heidi L. Rehm; Hela Azaiez; Ahmad N. Abou Tayoun; Sami S. Amr

Gene-Disease Relationships in Kidney Genetics

肾脏遗传学中的基因-疾病关系

Seminars in Nephrology

IF3.5

2025-07-150

PRE

Data-driven insights to inform splice-altering variant assessment

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-04-010

OAAI

Germline analysis of an international cohort of pediatric diffuse midline glioma patients

对国际队列儿童弥漫性中线胶质瘤患者的生殖系分析

NEURO-ONCOLOGY

IF13.4

2025-03-120

PRE

Marion K Mateos; Pamela Ajuyah; Noemi Fuentes-Bolanos; Sam El-Kamand; Paulette Barahona; Ann-Kristin Altekoester; Chelsea Mayoh; Holly Holliday; Jie Liu; Louise Cui; Elke Pfaff; Alan Mackay; Adam C Resnick; Mark Pinese; Loretta M S Lau; Dong-Anh Khuong-Quang; Kimberly Dias; Catherine Goudie; Alison Salkeld; Jo Lynne Rokita; David T W Jones; Nikoleta Juretic; Elisha Hayden; Stefan M Pfister; Christof M Kramm; Mirjam Blattner-Johnson; Nada Jabado; Maria Tsoli; Orazio Vittorio; Sabine Mueller; Yiran Guo; Katherine Tucker; Sebastian M Waszak; Sebastien Perreault; Chris Jones; Marie Wong-Erasmus; Mark J Cowley; David S Ziegler

Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome

Noonan综合征患者中具有piloid特征的脊柱高级星形细胞瘤的新儿科病例

NPJ PRECISION ONCOLOGY

IF8

2024-10-190

Precision-guided treatment improves outcomes for children with high-risk cancers

EUROPEAN JOURNAL OF CANCER

IF7.1

2024-10-010

PRE

A novel NTRK2-activating internal tandem duplication characterizes a new mechanism of receptor tyrosine kinase activation

CANCER RESEARCH

IF16.6

2024-09-050

PRE

Increasing the clinical utility of transcriptome analysis in high-risk childhood precision oncology

CANCER RESEARCH

IF16.6

2024-09-050

PRE

PEDIATRIC PATIENTS WITH DIFFUSE MIDLINE GLIOMA DEMONSTRATE AN UNEXPECTED PREVALENCE OF GERMLINE VARIANTS IN HOMOLOGOUS RECOMBINATION GENES

弥漫性中线胶质瘤的儿科患者在同源重组基因中表现出意想不到的种系变异患病率

NEURO-ONCOLOGY

IF13.4

2024-06-180

OAAI

Mateos, Marion K.; Ajuyah, Pamela; Fuentes-Bolanos, Noemi; El Kamand, Sam; Barahona, Paulette; Altekoester, Ann; Mayoh, Chelsea; Holiday, Holly; Liu, Jie; Cui, Louise; Pfaff, Elke; Mackay, Alan; Resnick, Adam; Pinese, Mark; Lau, Loretta M. S.; Khuong-Quang, Dong-Anh; Dias, Kimberly; Goudie, Catherine; Salkeld, Alison; Rokita, Jo Lynne; Jones, David T. W.; Juretic, Nikoleta; Hayden, Elisha; Pfister, Stefan M.; Kramm, Christof M.; Blattner-Johnson, Mirjam; Jabado, Nada; Tsoli, Maria; Vittorio, Orazio; Mueller, Sabine; Guo, Yiran; Tucker, Katherine; Waszak, Sebastian M.; Perreault, Sebastien; Jones, Chris; Wong-Erasmus, Marie; Cowley, Mark J.; Ziegler, David S.

Precision-guided treatment in high-risk pediatric cancers

NATURE MEDICINE

IF50

2024-06-067

OAAI

Lau, Loretta M. S.; Khuong-Quang, Dong-Anh; Mayoh, Chelsea; Wong, Marie; Barahona, Paulette; Ajuyah, Pamela; Senapati, Akanksha; Nagabushan, Sumanth; Sherstyuk, Alexandra; Altekoester, Ann-Kristin; Fuentes-Bolanos, Noemi A.; Yeung, Veronica; Sullivan, Ashleigh; Omer, Natacha; Diamond, Yonatan; Jessop, Sophie; Battaglia, Lauren; Zhukova, Nataliya; Cui, Louise; Lin, Angela; Gifford, Andrew J.; Fleuren, Emmy D. G.; Dalla-Pozza, Luciano; Moore, Andrew S.; Khaw, Seong-Lin; Eisenstat, David D.; Gottardo, Nicholas G.; Wood, Paul J.; Tapp, Heather; Alvaro, Frank; McCowage, Geoffrey; Nicholls, Wayne; Hansford, Jordan R.; Manoharan, Neevika; Kotecha, Rishi S.; Mateos, Marion K.; Lock, Richard B.; Tyrrell, Vanessa; Haber, Michelle; Trahair, Toby N.; Cowley, Mark J.; Ekert, Paul G.; Marshall, Glenn M.; Ziegler, David S.

High-Throughput Drug Screening of Primary Tumor Cells Identifies Therapeutic Strategies for Treating Children with High-Risk Cancer

原发性肿瘤细胞的高通量药物筛选确定治疗高危癌症儿童的治疗策略

CANCER RESEARCH

IF16.6

2023-07-3114

OAAI

Mayoh, Chelsea; Mao, Jie; Xie, Jinhan; Tax, Gabor; Chow, Shu-Oi; Cadiz, Roxanne; Pazaky, Karina; Barahona, Paulette; Ajuyah, Pamela; Trebilcock, Peter; Malquori, Angela; Gunther, Kate; Avila, Anica; Yun, Doo Young; Alfred, Stephanie; Gopalakrishnan, Anjana; Kamili, Alvin; Wong, Marie; Cowley, Mark J.; Jessop, Sophie; Lau, Loretta M. S.; Trahair, Toby N.; Ziegler, David S.; Fletcher, Jamie I.; Gifford, Andrew J.; Tsoli, Maria; Marshall, Glenn M.; Haber, Michelle; Tyrrell, Vanessa; Failes, Timothy W.; Arndt, Greg M.; Lock, Richard B.; Ekert, Paul G.; Dolman, M. Emmy M.

Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes

H3K27me3缺失的组蛋白H3-wild型弥漫性中线胶质瘤是一个独特的实体，具有EGFR或ACVR1突变和同源框基因的差异甲基化

SCIENTIFIC REPORTS

IF3.9

2023-03-077

OAAI

MicroRNA (miRNA)-to-miRNA Regulation of Programmed Cell Death 4 (PDCD4)

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-0322

OAAI

In vivo loss of tumorigenicity in a patient-derived orthotopic xenograft mouse model of ependymoma