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1
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD.sup.® and dbSNP databases
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD.sup.® and dbSNP databases
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An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD.sup.® and dbSNP databases

Human genetics, 2021-09, Vol.140 (9), p.1379 [Peer Reviewed Journal]

COPYRIGHT 2021 Springer ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-021-02316-w

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2
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Human genetics, 2017-06, Vol.136 (6), p.665-677 [Peer Reviewed Journal]

The Author(s) 2017 ;COPYRIGHT 2017 Springer ;Human Genetics is a copyright of Springer, 2017. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-017-1779-6 ;PMID: 28349240

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3
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Human genetics, 2013-10, Vol.132 (10), p.1077-1130 [Peer Reviewed Journal]

The Author(s) 2013 ;COPYRIGHT 2013 Springer ;Springer-Verlag Berlin Heidelberg 2013 ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-013-1331-2 ;PMID: 23820649

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4
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
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Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

Human genetics, 2021-01, Vol.140 (1), p.77-111 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2020 ;COPYRIGHT 2020 Springer ;Springer-Verlag GmbH Germany, part of Springer Nature 2020. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-020-02147-1 ;PMID: 32200437

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5
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features
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Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features

Human genetics, 2022-10, Vol.141 (10), p.1593-1593 [Peer Reviewed Journal]

The Author(s) 2022 ;COPYRIGHT 2022 Springer ;The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-022-02492-3 ;PMID: 36151408

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6
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
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Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

Human genetics, 2019-09, Vol.138 (8-9), p.799-830 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2019 ;COPYRIGHT 2019 Springer ;Human Genetics is a copyright of Springer, (2019). All Rights Reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-019-01977-y ;PMID: 30762128

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7
Elof Axel Carlson: mutation: the history of an idea from Darwin to genomics
Elof Axel Carlson: mutation: the history of an idea from Darwin to genomics
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Elof Axel Carlson: mutation: the history of an idea from Darwin to genomics

Human genetics, 2012-01, Vol.131 (1), p.157 [Peer Reviewed Journal]

COPYRIGHT 2012 Springer ;Springer-Verlag 2012 ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-011-1070-1

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8
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
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Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

Human genetics, 2019-02, Vol.138 (2), p.141-150 [Peer Reviewed Journal]

The Author(s) 2019 ;COPYRIGHT 2019 Springer ;Human Genetics is a copyright of Springer, (2019). All Rights Reserved. © 2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0340-6717 ;ISSN: 1432-1203 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-018-01966-7 ;PMID: 30707351

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9
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
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Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Human genetics, 2016-05, Vol.135 (5), p.525-540 [Peer Reviewed Journal]

Springer-Verlag Berlin Heidelberg 2016 ;COPYRIGHT 2016 Springer ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-016-1660-z ;PMID: 27023906

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10
Correction to: Causal influences of neuroticism on mental health and cardiovascular disease
Correction to: Causal influences of neuroticism on mental health and cardiovascular disease
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Correction to: Causal influences of neuroticism on mental health and cardiovascular disease

Human genetics, 2021-09, Vol.140 (9), p.1283-1283 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2021 ;COPYRIGHT 2021 Springer ;Springer-Verlag GmbH Germany, part of Springer Nature 2021. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-021-02306-y

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11
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Human genetics, 2017-04, Vol.136 (4), p.463-479 [Peer Reviewed Journal]

The Author(s) 2017 ;COPYRIGHT 2017 Springer ;Human Genetics is a copyright of Springer, 2017. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-017-1772-0 ;PMID: 28283832

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12
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans
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Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans

Human genetics, 2022-11, Vol.141 (11), p.1795-1809 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 ;2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;COPYRIGHT 2022 Springer ;The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-022-02459-4 ;PMID: 35587281

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13
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
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Clinical impact of rare variants associated with inherited channelopathies: a 5-year update

Human genetics, 2022-10, Vol.141 (10), p.1579-1589 [Peer Reviewed Journal]

The Author(s) 2021 ;COPYRIGHT 2022 Springer ;The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-021-02370-4 ;PMID: 34546463

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14
46,XY disorders of sex development: the use of NGS for prevalent variants
46,XY disorders of sex development: the use of NGS for prevalent variants
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46,XY disorders of sex development: the use of NGS for prevalent variants

Human genetics, 2022-12, Vol.141 (12), p.1863-1873 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 ;COPYRIGHT 2022 Springer ;The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-022-02465-6

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15
Genome screening, reporting, and genetic counseling for healthy populations
Genome screening, reporting, and genetic counseling for healthy populations
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Genome screening, reporting, and genetic counseling for healthy populations

Human genetics, 2023-02, Vol.142 (2), p.181-192 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;COPYRIGHT 2023 Springer ;The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022, Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-022-02480-7 ;PMID: 36331656

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16
Editorial
Editorial
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Editorial

Human genetics, 2007-11, Vol.122 (3-4), p.217 [Peer Reviewed Journal]

COPYRIGHT 2007 Springer ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-007-0416-1

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17
Editorial
Editorial
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Editorial

Human genetics, 2007-11, Vol.122 (3-4), p.217 [Peer Reviewed Journal]

COPYRIGHT 2007 Springer ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-007-0416-1

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18
Expanded carrier screening: counseling and considerations
Expanded carrier screening: counseling and considerations
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Expanded carrier screening: counseling and considerations

Human genetics, 2020-09, Vol.139 (9), p.1131-1139 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2019 ;COPYRIGHT 2020 Springer ;Springer-Verlag GmbH Germany, part of Springer Nature 2019. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-019-02080-y ;PMID: 31679051

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19
Actionable secondary findings from whole-genome sequencing of 954 East Asians
Actionable secondary findings from whole-genome sequencing of 954 East Asians
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Actionable secondary findings from whole-genome sequencing of 954 East Asians

Human genetics, 2018-01, Vol.137 (1), p.31-37 [Peer Reviewed Journal]

Springer-Verlag GmbH Germany, part of Springer Nature 2017 ;COPYRIGHT 2018 Springer ;Human Genetics is a copyright of Springer, (2017). All Rights Reserved. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-017-1852-1 ;PMID: 29128982

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20
Ethnogeographic and inter-individual variability of human ABC transporters
Ethnogeographic and inter-individual variability of human ABC transporters
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Ethnogeographic and inter-individual variability of human ABC transporters

Human genetics, 2020-05, Vol.139 (5), p.623-646 [Peer Reviewed Journal]

The Author(s) 2020 ;COPYRIGHT 2020 Springer ;The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0340-6717 ;ISSN: 1432-1203 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-020-02150-6 ;PMID: 32206879

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