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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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Novel HLA-DQB1, DQA1, DPA1 and DPB1 alleles identified in the Australian new south wales tissue typing laboratory

Human immunology, 2024-11, Vol.85 (6), p.111171, Article 111171

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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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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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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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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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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HLA common and well‐documented alleles in China

HLA, 2018-10, Vol.92 (4), p.199-205

2018

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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?

Novel HLA-DQB1, DQA1, DPA1 and DPB1 alleles identified in the Australian new south wales tissue typing laboratory

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

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”

Characterizing the Major Structural Variant Alleles of the Human Genome

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

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

HLA common and well‐documented alleles in China

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

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