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Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

Application of clinical genetics, 2021-01, Vol.14, p.173-194

2021

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Correction: Evolved tooth gain in sticklebacks is associated with a cis-regulatory allele of Bmp6

Proceedings of the National Academy of Sciences - PNAS, 2014-12, Vol.111 (50), p.18090-18090

2014

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P‐IG‐13 | Breakpoint Regions of an RHD‐CE(4‐9)‐D Allele Expressing a C Antigen and a Rare JK Allele in a Pacific Islander Individual

Transfusion (Philadelphia, Pa.), 2023-10, Vol.63 (S5), p.177A-178A

2023

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Homage to Felsenstein 1981, or why are there so few/many species?

Evolution, 2021-05, Vol.75 (5), p.978-988

2021

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Genomic sequence of the novel HLA‐B41:02:01:11, and ‐C08:266 alleles identified in a solid organ recipient

HLA, 2024-03, Vol.103 (3), p.e15425-n/a

2024

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A Unified Characterization of Population Structure and Relatedness

Genetics (Austin), 2017-08, Vol.206 (4), p.2085-2103

2017

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Identification of a novel B allele with a c.917T >C mutation on the ABOB.01 allele

Transfusion (Philadelphia, Pa.), 2021-03, Vol.61 (3), p.E21-E22

2021

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Identification of novel HLA alleles discovered in 2022–2023

Human immunology, 2024-05, Vol.85 (3), p.110772-110772, Article 110772

2024

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A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P 1 k phenotype

Transfusion (Philadelphia, Pa.), 2023-08, Vol.63 (8), p.E43

2023

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Two novel A alleles with c.322C>T or c.410C>T mutations on the ABOA1.02 allele were identified in the Chinese individuals

Transfusion (Philadelphia, Pa.), 2020-10, Vol.60 (10), p.E38-E39

2020

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Lack of association of Stevens–Johnson syndrome/toxic epidermal necrolysis due to aromatic anticonvulsants and HLA‐B alleles in South Indian children

International journal of dermatology, 2024-05, Vol.63 (5), p.e97-e99

2024

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Identification of four new HLA alleles, HLA‐B40:455, ‐C03:521, ‐C03:04:81 and ‐DQB103:431

HLA, 2020-08, Vol.96 (2), p.219-220

2020

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Identification of a novel A allele with a c.731T>C mutation on the ABOA1.02 allele

Transfusion (Philadelphia, Pa.), 2020-08, Vol.60 (8), p.E30-E31

2020

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Identification of a novel B allele with a c.586T>C mutation on the ABOB.01 allele

Transfusion (Philadelphia, Pa.), 2020-01, Vol.60 (1), p.E1-E2

2020

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HLA DRB5∗01:01 is associated with pruritus in individuals with Fitzpatrick skin type IV-VI

Journal of the American Academy of Dermatology, 2024-04, Vol.90 (4), p.855-857

2024

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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

American journal of human genetics, 2018-08, Vol.103 (2), p.171-187

2018

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Natural Variation in Crops: Realized Understanding, Continuing Promise

Annual review of plant biology, 2021-06, Vol.72 (1), p.357-385

2021

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Response to “Determining Allele-Specific Protein Expression (ASPE) Using a Novel Quantitative Concatamer Based Proteomics Method”

Journal of proteome research, 2019-01, Vol.18 (1), p.574-574, Article acs.jproteome.8b00871

2019

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Differential haplotype expression in class I MHC genes during SARS-CoV-2 infection of human lung cell lines

Frontiers in immunology, 2023-02, Vol.13, p.1101526

2023

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Characterizing the Major Structural Variant Alleles of the Human Genome

Cell, 2019-01, Vol.176 (3), p.663-675.e19

2019

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Allele-specific RNA N 6 -methyladenosine modifications reveal functional genetic variants in human tissues

Genome research, 2023-08, Vol.33 (8), p.1369-1380

2023

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Nomenclature for factors of the HLA system, update January, February, and March 2022

HLA, 2022-06, Vol.99 (6), p.674-701

Marsh, Steven G. E.

2022

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genepop'007: a complete re-implementation of the genepop software for Windows and Linux

Molecular ecology notes, 2008, Vol.8 (1), p.103-106

ROUSSET, FRANÇOIS

2008

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NovAT tool—Reliable novel HLA alleles identification from next‐generation sequencing data

HLA, 2022-01, Vol.99 (1), p.3-11

2022

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Characterization of two new HLA alleles, HLA‐B18:01:01:74 and HLA‐C06:02:01:93 in Russian individuals

HLA, 2023-07, Vol.102 (1), p.78-79

2023

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Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

Correction: Evolved tooth gain in sticklebacks is associated with a cis-regulatory allele of Bmp6

P‐IG‐13 | Breakpoint Regions of an RHD‐CE(4‐9)‐D Allele Expressing a C Antigen and a Rare JK Allele in a Pacific Islander Individual

Homage to Felsenstein 1981, or why are there so few/many species?

Genomic sequence of the novel HLA‐B41:02:01:11, and ‐C08:266 alleles identified in a solid organ recipient

A Unified Characterization of Population Structure and Relatedness

Identification of a novel B allele with a c.917T >C mutation on the ABOB.01 allele

Identification of novel HLA alleles discovered in 2022–2023

A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P 1 k phenotype

Two novel A alleles with c.322C>T or c.410C>T mutations on the ABOA1.02 allele were identified in the Chinese individuals

Lack of association of Stevens–Johnson syndrome/toxic epidermal necrolysis due to aromatic anticonvulsants and HLA‐B alleles in South Indian children

Identification of four new HLA alleles, HLA‐B40:455, ‐C03:521, ‐C03:04:81 and ‐DQB103:431

Identification of a novel A allele with a c.731T>C mutation on the ABOA1.02 allele

Identification of a novel B allele with a c.586T>C mutation on the ABOB.01 allele

HLA DRB5∗01:01 is associated with pruritus in individuals with Fitzpatrick skin type IV-VI

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Natural Variation in Crops: Realized Understanding, Continuing Promise

Response to “Determining Allele-Specific Protein Expression (ASPE) Using a Novel Quantitative Concatamer Based Proteomics Method”

Differential haplotype expression in class I MHC genes during SARS-CoV-2 infection of human lung cell lines

Characterizing the Major Structural Variant Alleles of the Human Genome

Allele-specific RNA N 6 -methyladenosine modifications reveal functional genetic variants in human tissues

Nomenclature for factors of the HLA system, update January, February, and March 2022

genepop'007: a complete re-implementation of the genepop software for Windows and Linux

NovAT tool—Reliable novel HLA alleles identification from next‐generation sequencing data

Characterization of two new HLA alleles, HLA‐B18:01:01:74 and HLA‐C06:02:01:93 in Russian individuals

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