Roy W A Peake - Publications, H-index & Citations

Roy W A Peake

Harvard University

14H指数

113论文数

666被引数

收录论文 37

发表时间

A microsampled dried urine testing strategy for amino acid transport disorders 氨基酸转运障碍的微样本干燥尿液检测策略

CLINICAL CHEMISTRY

IF6.3

2025-10-01

OAAI

Ptolemy, Adam; Pickett, Sara; Garrett, Rafael; Kellogg, Mark; Peake, Roy

Diagnostic Odyssey in a Child with Red-Colored Urine and Proteinuria

CLINICAL CHEMISTRY

IF6.3

2025-01-03

OAAI

Guarino, Brianna; Ptolemy, Adam S.; Baum, Michelle A.; Palma, Melinda J.; Kellogg, Mark D.; Peake, Roy W. A.

Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability

CLINICAL CHEMISTRY

IF6.3

2024-10-04

PREAI

Garrett, Rafael; Ptolemy, Adam S.; Pickett, Sara; Kellogg, Mark D.; Peake, Roy W. A.

Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease

METABOLOMICS

IF3.3

2023-03-29

PREAI

de Moraes, Mariana B. M.; de Souza, Hygor M. R.; de Oliveira, Maria L. C.; Peake, Roy W. A.; Scalco, Fernanda B.; Garrett, Rafael

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

GENETICS IN MEDICINE

IF6.2

2023-02-01

OAAI

Faqeih, Eissa A.; Alghamdi, Malak Ali; Almahroos, Marwa A.; Alharby, Essa; Almuntashri, Makki; Alshangiti, Amnah M.; Clement, Prouteau; Calame, Daniel G.; Qebibo, Leila; Burglen, Lydie; Doco-Fenzy, Martine; Mastrangelo, Mario; Torella, Annalaura; Manti, Filippo; Nigro, Vincenzo; Alban, Ziegler; Alharbi, Ghadeer Saleh; Hashmi, Jamil Amjad; Alraddadi, Rawya; Alamri, Razan; Mitani, Tadahiro; Magalie, Barth; Coban-Akdemir, Zeynep; Geckinli, Bilgen Bilge; Pehlivan, Davut; Romito, Antonio; Karageorgou, Vasiliki; Martini, Javier; Colin, Estelle; Bonneau, Dominique; Bertoli-Avella, Aida; Lupski, James R.; Pastore, Annalisa; Peake, Roy W. A.; Dallol, Ashraf; Alfadhel, Majid; Almontashiri, Naif A. M.

Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses 非靶向lc-hrms代谢组学揭示粘多糖的候选生物标志物

CLINICA CHIMICA ACTA

IF2.9

2023-02-01

PREAI

Torres, Clarisse L.; Scalco, Fernanda B.; de Oliveira, Maria Lucia C.; Peake, Roy W. A.; Garrett, Rafael

Abundant Depletion

CLINICAL CHEMISTRY

IF6.3

2022-09-01

OAAI

Machado, Gabriella Allegri; Ptolemy, Adam S.; Kellogg, Mark D.; Peake, Roy W. A.

A 3-year pilot screening program for lysosomal disorders in the Latin America (LATAM) region using an integrated enzymatic and molecular approach

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-01

PREAI

Al-Hertani, Walla; Bodamer, Olaf A.; Merglesberg, Holly; Pollard, Laura; Peake, Roy

The Boston Children's Hospital (BCH) four year experience with the Massachusetts State Newborn Screening (NBS) pilot program for mucopolysaccharidosis type I (MPS I), Pompe disease, and X-linked adrenoleukodystrophy(X-ALD): Lessons learned

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-01

PREAI

Al-Hertani, Walla; Peake, Roy; Sahai, Inderneel; Bodamer, Olaf A.

Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches

MOVEMENT DISORDERS

IF7.6

2022-02-01

OAAI

Ortega, Roberto A.; Bodamer, Olaf; Peake, Roy W. A.; Raymond, Deborah; Bressman, Susan B.; Saunders-Pullman, Rachel

Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome

NEUROLOGY-GENETICS

IF3.7

2021-06-01

OAAI

Alharby, Essa; Obaid, Mona; Elamin, Mohammed A. O.; Almuntashri, Makki; Bakhsh, Ismail; Samman, Manar; Peake, Roy W. A.; Alasmari, Ali; Almontashiri, Naif A. M.

A Child with Progressive Hypertrophic Cardiomyopathy and Lactic Acidosis

CLINICAL CHEMISTRY

IF6.3

2021-05-24

OAAI

AlFaris, Haya S.; Rahbeeni, Zuhair A.; Peake, Roy W. A.; Almontashiri, Naif A. M.

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort

GENETICS IN MEDICINE

IF6.2

2020-12-01

OAAI

Alharby, Essa; Faqeih, Eissa A.; Saleh, Mohammed; Alameer, Seham; Almuntashri, Makki; Pastore, Annalisa; Samman, Manar A.; Alnawfal, Abdullah M.; Hashem, Mais; Zaytuni, Dimah; Alharbi, Ghadeer; Almannai, Mohammed; Alasmari, Ali; Mahmoud, Adel A.; Alwadei, Ali H.; Jad, Lamya; AlOtaibi, Ali; Al-Hakami, Fahad; Eyaid, Wafaa; Alkuraya, Fowzan S.; Alfadhel, Majid; Peake, Roy W. A.; Almontashiri, Naif A. M.

Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn

CLINICAL CHEMISTRY

IF6.3

2020-11-30

OAAI

Almannai, Mohammed; Aldehaimi, Abdulwahed; Peake, Roy W. A.; Almontashiri, Naif A. M.

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study (vol 10, 9382, 2020)

SCIENTIFIC REPORTS

IF3.9

2020-07-07

OAAI

Almontashiri, Naif A. M.; Zha, Li; Young, Kim; Law, Terence; Kellogg, Mark D.; Bodamer, Olaf A.; Peake, Roy W. A.

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study

SCIENTIFIC REPORTS

IF3.9

2020-06-10

OAAI

Almontashiri, Naif A. M.; Zha, Li; Young, Kim; Law, Terence; Kellogg, Mark D.; Bodamer, Olaf A.; Peake, Roy W. A.

Consolidation of vitamin A and E methods onto a multiplexing liquid chromatography tandem mass spectrometry platform simplifies laboratory workflow

CLINICA CHIMICA ACTA

IF2.9

2020-06-01

PREAI

Zha, Li; Law, Terence; MacDonald, Christopher; Kodgis, Isabel; Kellogg, Mark D.; Peake, Roy W. A.

Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype

CLINICAL CHEMISTRY

IF6.3

2020-04-30

OAAI

Alayed, Alaa M.; Faqeih, Eissa Ali; Aldehaimi, Abdulwahed; Peake, Roy W. A.; Almontashiri, Naif A. M.

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability

CLINICAL CHEMISTRY

IF6.3

2018-12-01

OAAI

Almontashiri, Naif A. M.; Berry, Gerard T.; Majzoub, Joseph; Peake, Roy W. A.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-11-26

OAAI

Haskovic, Minela; Derks, Britt; van der Ploeg, Liesbeth; Trommelen, Jorn; Nyakayiru, Jean; van Loon, Luc J. C.; Mackinnon, Sabrina; Yue, Wyatt W.; Peake, Roy W. A.; Zha, Li; Demirbas, Didem; Qi, Wanshu; Huang, Xiaoping; Berry, Gerard T.; Achten, Jelle; Bierau, Joergen; Rubio-Gozalbo, M. Estela; Coelho, Ana I.

研究方向