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Khalid Al‐Thihli

Boston Children's Hospital US

ORCID iD 0000-0001-7518-4615
76
Publications
1,381
Citations
18
H-Index
31
i10-Index
1.25
2yr Mean Cite
-
Cite/Paper
Data combined from OpenAlex . OA = OpenAlex S2 = Semantic Scholar
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Publication & Citation Trends

Publications

76 total

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire PDF

Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian, Khalid Al‐Thihli, Diana Ballhausen et al. - Genetics in Medicine, 2022
Cited by 62 OpenAlex

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights PDF

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac, Nicole I. Wolf, Autumn S. Ivy et al. - Brain, 2018
Cited by 88 OpenAlex

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

Maryam Al‐Nabhani, Samiya Al‐Rashdi, Fathiya Al Murshedi, Adila Al‐Kindi, Khalid Al‐Thihli et al. - Clinical Genetics, 2018
Cited by 72 OpenAlex

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes PDF

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair N. Al‐Hassnan, Maha Alotaibi et al. - Human Genetics, 2017
Cited by 302 OpenAlex

Guidelines for acute management of hyperammonemia in the Middle East region PDF

Majid Alfadhel, Fuad Al Mutairi, Nawal Makhseed, Fatma Al Jasmi, Khalid Al‐Thihli et al. - Therapeutics and Clinical Risk Management, 2016
Cited by 47 OpenAlex

Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study

Khalid Al‐Thihli, Fathiya Al-Murshedi, Nadia Alhashmi, Watfa Al‐Mamari, M. Mazharul Islam et al. - Human Heredity, 2014
Cited by 35 OpenAlex

An update on ocular involvement in mucopolysaccharidoses

Anuradha Ganesh, Zandrè Bruwer, Khalid Al‐Thihli - Current Opinion in Ophthalmology, 2013
Cited by 48 OpenAlex

Drug treatment of inborn errors of metabolism: a systematic review PDF

Majid Alfadhel, Khalid Al‐Thihli, Hiba Moubayed, Wafaa Eyaid, Majed Al-Jeraisy - Archives of Disease in Childhood, 2013
Cited by 37 OpenAlex

Enhanced interpretation of newborn screening results without analyte cutoff values PDF

Gregg Marquardt, Robert J. Currier, David McHugh, Dimitar Gavrilov, Mark J Magera et al. - Genetics in Medicine, 2012
Cited by 123 OpenAlex

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the <i>ACSF3</i> gene in patients with a non-classic phenotype PDF

Ahmed Alfares, Laura Dempsey Nunez, Khalid Al‐Thihli, John J. Mitchell, S. Melançon et al. - Journal of Medical Genetics, 2011
Cited by 49 OpenAlex

Research Topics

Metabolism and Genetic Disorders (23) Mitochondrial Function and Pathology (15) RNA modifications and cancer (8) Genomics and Rare Diseases (8) Genetics and Neurodevelopmental Disorders (7)

Affiliations

Boston Children's Hospital
US 2025 - 2025
University of British Columbia
CA 2012 - 2012
Montreal Children's Hospital
CA 2011 - 2008
McGill University Health Centre
CA 2008 - 2008
Children's & Women's Health Centre of British Columbia
CA 2012 - 2012

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