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Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy

Molecular biology and evolution, 2013-08, Vol.30 (8), p.1830-1842

2013

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

PloS one, 2021-10, Vol.16 (10), p.e0258766-e0258766

2021

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International standard measures during the VaPER bed rest study

Acta astronautica, 2022-01, Vol.190, p.208-217

2022

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International standard measures during the AGBRESA bed rest study

Acta astronautica, 2022-11, Vol.200, p.163-175

2022

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VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

Genes, 2021-12, Vol.12 (12), p.1979

2021

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Improving genome-wide scans of positive selection by using protein isoforms of similar length

Genome biology and evolution, 2013-01, Vol.5 (2), p.457-467

2013

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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved]

F1000 research, 2020, Vol.9, p.1229

2020

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Accelerated evolution after gene duplication: a time-dependent process affecting just one copy

Molecular biology and evolution, 2013-08, Vol.30 (8), p.1830-1842

2013

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Cardiovascular responses to daily use of lower body negative pressure during 30 days of strict head-down tilt bedrest

Physiology (Bethesda, Md.), 2023-05, Vol.38 (S1)

2023

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Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Journal of neurology, 2020-12, Vol.267 (12), p.3643-3649

2020

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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

Brain (London, England : 1878), 2024-01, Vol.147 (1), p.281-296

2024

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From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

Human mutation, 2016-12, Vol.37 (12), p.1263-1271

2016

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Lineage-specific variation in intensity of natural selection in mammals

Molecular biology and evolution, 2011-01, Vol.28 (1), p.383-398

2011

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Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2023-09, Vol.26 (5), p.653-666

2023

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Brain communications, 2022, Vol.4 (2), p.fcac030-fcac030

2022

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Sequence shortening in the rodent ancestor

Genome research, 2012-03, Vol.22 (3), p.478

2012

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

European journal of medical genetics, 2022-01, Vol.65 (1), p.104402-104402, Article 104402

2022

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

PloS one, 2021-01, Vol.16 (10), p.e0258766

2021

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Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1), p.e00511-n/a

2019

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Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE 1, in a patient with Angelman‐like syndrome

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1)

2019

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MSH1 Is a Plant Organellar DNA Binding and Thylakoid Protein under Precise Spatial Regulation to Alter Development

Molecular plant, 2016-02, Vol.9 (2), p.245-260

2016

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The Blackwell handbook of mentoring: a multiple perspectives approach.

Paperback edition., 2008

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Proceedings of the VII International Symposium ‘Cultural Heritage in Geosciences, Mining and Metallurgy: Libraries — Archives ’ Museums’ “Museums and their Collections” held at the Nationaal Natuurhistorisch Museum, Leiden (The Netherlands), 19–23 May 2003 90-73239-94 C.F. Winkler Prins S.K. Donovan Scripta Geologica, Special Issue 4 2004 Natuur & Boek, Nationaal Natuurhistorisch Museum Naturalis PO Box 9517, 2003 RA Leiden, The Netherlands 307 + ix pp, (PB) €81.6 obtainable from

Proceedings of the Geologists¿ Association, 2006, Vol.117 (3), p.323-324

Laurie, Steve

2006

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Partial Gene Duplication and the Formation of Novel Genes

Toll-Riera, Macarena

2011

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Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

International standard measures during the VaPER bed rest study

International standard measures during the AGBRESA bed rest study

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

Improving genome-wide scans of positive selection by using protein isoforms of similar length

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved]

Accelerated evolution after gene duplication: a time-dependent process affecting just one copy

Cardiovascular responses to daily use of lower body negative pressure during 30 days of strict head-down tilt bedrest

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

Lineage-specific variation in intensity of natural selection in mammals

Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Sequence shortening in the rodent ancestor

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE 1, in a patient with Angelman‐like syndrome

MSH1 Is a Plant Organellar DNA Binding and Thylakoid Protein under Precise Spatial Regulation to Alter Development

The Blackwell handbook of mentoring: a multiple perspectives approach.

Partial Gene Duplication and the Formation of Novel Genes

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