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Genetics

D-Index
69
Citations
18779
World Ranking
2340
National Ranking
1

Overview

Lihadh Al-Gazali is affiliated with the United Arab Emirates University in the United Arab Emirates. Their research primarily focuses on the fields of Biochemistry, Genetics and Molecular Biology, with particular attention to Genetics, Molecular Biology, Anthropology, Cardiology and Cardiovascular Medicine, and Pediatrics, Perinatology and Child Health. The research themes encompass Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Global Maritime and Colonial Histories, Congenital heart defects research, Connective tissue disorders research, and Forensic and Genetic Research.

Their recent scientific contributions include several publications across highly specialized journals:

  • "A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome," 2020, Genetics in Medicine
  • "Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders," 2021, Genetics in Medicine
  • "The Entwined African and Asian Genetic Roots of the Medieval Peoples of the Swahili Coast," 2022, bioRxiv (Cold Spring Harbor Laboratory)
  • "Entwined African and Asian genetic roots of medieval peoples of the Swahili coast," 2023, Nature
  • "Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots," 2020, Molecular Genetics and Metabolism

The venues where they have frequently published include Genetics in Medicine, bioRxiv (Cold Spring Harbor Laboratory), Clinical Genetics, Nature, and Molecular Genetics and Metabolism. This variety illustrates engagement with both established peer-reviewed journals and preprint platforms.

Collaboration is a notable aspect of their work. Frequent coauthors associated with this scientist are:

  • Bassam R. Ali
  • Jozef Hertecant
  • Christian Beetz
  • Aisha Al-Shamsi
  • Sally Ann Lynch

These collaborations indicate active involvement within a network of researchers contributing to related areas of genetic and molecular studies.

Best Publications

  • An SCN9A channelopathy causes congenital inability to experience pain

    James J Cox;Frank Reimann;Adeline K. Nicholas;Gemma K Thornton

  • Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

    Timothy W. Yu;Maria H. Chahrour;Michael E. Coulter;Sarn Jiralerspong

  • Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

    Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano

  • Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

    Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  • Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  • Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • Genetic disorders in the Arab world

    Lihadh Al-Gazali;Hanan Hamamy;Shaikha Al-Arrayad

  • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

    Cynthia F. Bartels;Hülya Bükülmez;Hülya Bükülmez;Pius Padayatti;David K. Rhee

  • Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

    Sibel Kantarci;Lihadh Al-Gazali;R Sean Hill;R Sean Hill;Dian Donnai

  • Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

    Marielle Alders;Benjamin M. Hogan;Evisa Gjini;Faranak Salehi

  • SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    Vincent Cantagrel;Dirk J. Lefeber;Bobby G. Ng;Ziqiang Guan

  • The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat

    Ursula M Smith;Mark Consugar;Louise J Tee;Brandy M McKee

  • Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

    Tracy Dixon-Salazar;Jennifer L. Silhavy;Sarah E. Marsh;Carrie M. Louie

  • CONSANGUINEOUS MARRIAGES IN THE UNITED ARAB EMIRATES

    Li Algazali;Abdulbari Bener;Ym Abdulrazzaq;R Micallef

  • Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy

    Anil K. Agarwal;Vinaya Simha;Elif Arioglu Oral;Stephanie A. Moran

  • Mutations in PYCR1 cause cutis laxa with progeroid features

    Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  • Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

    C. G. Woods;S. Stricker;P. Seemann;R. Stern

  • High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium

    Luísa Pereira;Martin B. Richards;Ana Goios;Antonio Alonso

  • Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

    Fernando Jose Martinez;Jeong Ho Lee;Ji Eun Lee;Sandra Blanco

Frequent Co-Authors

Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Christopher A. Walsh
Christopher A. Walsh Howard Hughes Medical Institute
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Hülya Kayserili
Hülya Kayserili Koç University
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
Enza Maria Valente
Enza Maria Valente University of Pavia
Fan Xia
Fan Xia Baylor College of Medicine
Francesco Brancati
Francesco Brancati University of L'Aquila

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