Results 1 to 10 of about 13,098 (176)

Bernard‐Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient [PDF]

Molecular Genetics & Genomic Medicine
Background Bernard‐Soulier syndrome (BSS) is a rare bleeding disorder caused by defects in the GPIb‐IX‐V complex, which is essential for platelet adhesion.
Mohamed Lemine Salem, Ektelbenina Zein, Ghaber Sidi Mohamed   +2 more
doaj   +3 more sources

The importance of being the HGNC

Human Genomics, 2022
The HUGO Gene Nomenclature Committee (HGNC) has been providing standardized symbols and names for human genes since the late 1970s. As funding agencies change their priorities, finding financial support for critical biomedical resources such as the HGNC ...
Elspeth A. Bruford, Bryony Braschi, Liora Haim-Vilmovsky, Tamsin E. M. Jones, Ruth L. Seal, Susan Tweedie   +5 more
doaj   +4 more sources

Gene family matters: expanding the HGNC resource [PDF]

Human Genomics, 2012
The HUGO Gene Nomenclature Committee (HGNC) assigns approved gene symbols to human loci. There are currently over 33,000 approved gene symbols, the majority of which represent protein-coding genes, but we also name other locus types such as non-coding ...
Daugherty Louise C, Seal Ruth L, Wright Mathew W, Bruford Elspeth A   +3 more
doaj   +3 more sources

HGNC: The Why and How of Standardised Gene Nomenclature [PDF]

Nature Precedings, 2009
The HUGO Gene Nomenclature Committee (HGNC) aims to approve a unique gene symbol and gene name for every human gene. Standardisation of gene symbols is necessary to allow researchers and curators to refer to the same gene without ambiguity.
Elspeth Bruford, Mathew Wright, Michael Lush, Ruth Seal, Susan Gordon   +4 more
core   +5 more sources

Genenames.org: the HGNC and PGNC resources in 2026 [PDF]

Nucleic Acids Research
Abstract The HUGO Gene Nomenclature Committee (HGNC), based at the University of Cambridge, approves unique symbols and descriptive names for human genes. The HGNC database currently contains over 44 400 approved gene symbols, over 19 250 of which represent protein-coding genes, ∼14 500 represent pseudogenes, and over 9500 represent ...
Ruth L Seal, Bryony Braschi, Kristian Gray, James McClay, Susan Tweedie, Elspeth A Bruford   +5 more
openaire   +2 more sources

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs [PDF]

Genetics in Medicine Open
Purpose: Genetic variation underlying rare diseases in Arab populations is poorly understood limiting effective carrier screening for recessive disorders, which are prevalent because of high consanguineous rates.
Ruchi Jain, Sami Bizzari, Sathishkumar Ramaswamy, Khaleem F. Hasham, Shruti Sinha, Ikram Chekroun, Fatma Rabea, Eman Abuijlan, Maha El Naofal, Massomeh Sheikh Hassani, Shruti Shenbagam, Alan Taylor, Mohammed Uddin, Mohamed Almarri, Omer Alkhnbashi, Hamda Khansaheb, Hanan Al Suwaidi, Stefan S. Du Plessis, Stephany El-Hayek, Alawi Alsheikh-Ali, Ahmad Abou Tayoun   +20 more
doaj   +2 more sources

Naming the alpha-2-macroglobulin gene family across vertebrates [PDF]

Human Genomics
The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes and its sister project, the Vertebrate Gene Nomenclature Committee (VGNC), names genes across selected vertebrates (chimp, macaque, horse, cattle, pig, dog, cat ...
Bryony Braschi, Ruth L. Seal, Elspeth A. Bruford   +2 more
doaj   +2 more sources

Protein-coding genes in humans and model mammals (mouse, rat and pig): gene identifiers and disambiguation of gene nomenclature retrieved from the Ensembl genome browser [PDF]

BMC Genomics
Background Gene nomenclature contains current official symbols and various numbers of synonyms, which pose a challenge to integrating genomic data and increase the probability that different genes share the same symbol.
Grzegorz R. Juszczak, Chandra S. Pareek, Urszula Czarnik, Mariusz Pierzchała   +3 more
doaj   +2 more sources

Systematic phenotype and genotype characterization of Moebius syndrome [PDF]

Genetics in Medicine Open
Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction.
Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin, Lori L. Bonnycastle, Wai-Man Chan, Tingfen Yan, Silvio Alessandro Di Gioia, Amy J. Swift, Sarah E. MacKinnon, Darren T. Oystreck, Janet C. Rucker, Tamiesha Frempong, Mary C. Whitman, Edmond J. FitzGibbon, Janice S. Lee, Ke Hao, Caroline Andrews, Monica Erazo, Flavia M. Facio, Sherin Shaaban, Thomas P. Naidich, Peter S. Chines, Tanya J. Lehky, Camilo Toro, Andrea L. Gropman, John A. Butman, Christopher K. Zalewski, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Scott M. Paul, Brian P. Brooks, Carlo Pierpaoli, Caroline D. Robson, David G. Hunter, Francis S. Collins, Ethylin Wang Jabs, Elizabeth C. Engle, Irini Manoli   +41 more
doaj   +2 more sources

Manual curation for improved genome annotation of the functionally extinct northern white rhinoceros (Ceratotherium simum cottoni). [PDF]

PLoS ONE
The northern white rhinoceros (Ceratotherium simum cottoni) genome and annotation were previously published, but the annotation contained few genes, with many annotation misalignments, and nomenclature not matching HGNC/VGNC naming conventions, making ...
Elena Ruggeri, Julien Prunier, Marc-André Sirard, Barbara Durrant, Kristin Klohonatz   +4 more
doaj   +2 more sources