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Reviews | 11 December 2020
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
European Journal of Human Genetics , 1–12

Rights & permissionsfor article Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories . Opens in a new window.
Research | 14 April 2020 | Open
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations
- Robin A. Pilz
- , Konrad Schwefel
- , Anja Weise
- , Thomas Liehr
- , Philipp Demmer
- , Andreas Spuler
- , Stefanie Spiegler
- , Eberhard Gilberg
- , Christian A. Hübner
- , Ute Felbor
- & Matthias Rath
Scientific Reports 10 , 1–7

Rights & permissionsfor article First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations . Opens in a new window.
Research | 27 July 2020 | Open
Landscape of snake’ sex chromosomes evolution spanning 85 MYR reveals ancestry of sequences despite distinct evolutionary trajectories
Scientific Reports 10 , 1–14

Rights & permissionsfor article Landscape of snake’ sex chromosomes evolution spanning 85 MYR reveals ancestry of sequences despite distinct evolutionary trajectories . Opens in a new window.
Reviews | 28 March 2019 | Open
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries
European Journal of Human Genetics 27 , 1168–1174

Rights & permissionsfor article Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries . Opens in a new window.
Research | 13 May 2020
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population
- Carolina Sismani
- , Stamatia-Maria Rapti
- , Pavlina Iliopoulou
- , Anastasia Spring
- , Rozalia Neroutsou
- , Magdalini Lagou
- , Marianna Robola
- , Efstathios Tsitsopoulos
- , Ludmila Kousoulidou
- , Angelos Alexandrou
- , Ioannis Papaevripidou
- , Athina Theodosiou
- , Maria Syrrou
- , Sigrid Fuchs
- , Maja Hempel
- , Dagmar Huhle
- , Thomas Liehr
- , Monika Ziegler
- , Max Duesberg
- & Voula Velissariou
Journal of Human Genetics 65 , 783–795

Rights & permissionsfor article Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population . Opens in a new window.
Research | 26 May 2020 | Open
Cytogenetic mechanisms of unisexuality in rock lizards
Scientific Reports 10 , 1–14

Rights & permissionsfor article Cytogenetic mechanisms of unisexuality in rock lizards . Opens in a new window.
Books and Arts | 8 June 2017
Thorough discussion of cancer research—thoughts against the main stream
- Thomas Liehr
European Journal of Human Genetics 25 , 902–903

Rights & permissionsfor article Thorough discussion of cancer research—thoughts against the main stream . Opens in a new window.
Reviews | 8 March 2017 | Open
European registration process for Clinical Laboratory Geneticists in genetic healthcare
European Journal of Human Genetics 25 , 515–519

Rights & permissionsfor article European registration process for Clinical Laboratory Geneticists in genetic healthcare . Opens in a new window.
Research | 17 July 2013 | Open
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2
- Lusine Nazaryan
- , Eunice G Stefanou
- , Claus Hansen
- , Nadezda Kosyakova
- , Mads Bak
- , Freddie H Sharkey
- , Theodora Mantziou
- , Anastasios D Papanastasiou
- , Voula Velissariou
- , Thomas Liehr
- , Maria Syrrou
- & Niels Tommerup
European Journal of Human Genetics 22 , 338–343

Rights & permissionsfor article The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2 . Opens in a new window.
Research | 9 April 2014
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements
- Trilochan Sahoo
- , Jia-Chi Wang
- , Mohamed M Elnaggar
- , Pedro Sanchez-Lara
- , Leslie P Ross
- , Loretta W Mahon
- , Katayoun Hafezi
- , Abigail Deming
- , Lynne Hinman
- , Yovana Bruno
- , James A Bartley
- , Thomas Liehr
- , Arturo Anguiano
- & Marilyn Jones
European Journal of Human Genetics 23 , 61–66

Rights & permissionsfor article Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements . Opens in a new window.
Research | 3 August 2005
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level
- John C K Barber
- , Viv Maloney
- , Edward J Hollox
- , Annegret Stuke-Sontheimer
- , Gabi du Bois
- , Eva Daumiller
- , Ute Klein-Vogler
- , Andreas Dufke
- , John A L Armour
- & Thomas Liehr
European Journal of Human Genetics 13 , 1131–1136

Rights & permissionsfor article Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level . Opens in a new window.
Research | 22 December 2004
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences
- John C K Barber
- , N Simon Thomas
- , Morag N Collinson
- , Nick R Dennis
- , Thomas Liehr
- , Anja Weise
- , Britta Belitz
- , Lutz Pfeiffer
- , Maria Kirchhoff
- , Bente Krag-Olsen
- & Claes Lundsteen
European Journal of Human Genetics 13 , 283–291

Rights & permissionsfor article Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences . Opens in a new window.
22 October 2003
Karyotyping of human synaptonemal complexes by cenM-FISH
- Maria Oliver-Bonet
- , Thomas Liehr
- , Angela Nietzel
- , Anita Heller
- , Heike Starke
- , Uwe Claussen
- , Montserrat Codina-Pascual
- , Aïda Pujol
- , Carlos Abad
- , Josep Egozcue
- , Joaquima Navarro
- & Jordi Benet
European Journal of Human Genetics 11 , 879–883

Rights & permissionsfor article Karyotyping of human synaptonemal complexes by cenM-FISH . Opens in a new window.
1 July 2006
Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line
- Thomas Liehr
Genetics in Medicine 8 , 459–462

Rights & permissionsfor article Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line . Opens in a new window.
Research | 30 August 2001
Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker
- Andreas Dufke
- , Claudia Walczak
- , Thomas Liehr
- , Heike Starke
- , Vladimir Trifonov
- , Nikolai Rubtsov
- , Martin Schöning
- , Herbert Enders
- & Thomas Eggermann
European Journal of Human Genetics 9 , 572–576

Rights & permissionsfor article Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker . Opens in a new window.
Research | 4 November 2009
High-throughput sequencing of microdissected chromosomal regions
- Anja Weise
- , Bernd Timmermann
- , Manfred Grabherr
- , Martin Werber
- , Patricia Heyn
- , Nadezda Kosyakova
- , Thomas Liehr
- , Heidemarie Neitzel
- , Kateryna Konrat
- , Christiane Bommer
- , Carola Dietrich
- , Anna Rajab
- , Richard Reinhardt
- , Stefan Mundlos
- , Tom H Lindner
- & Katrin Hoffmann
European Journal of Human Genetics 18 , 457–462

Rights & permissionsfor article High-throughput sequencing of microdissected chromosomal regions . Opens in a new window.
Research | 3 December 2002
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
- Heike Starke
- , Jörg Seidel
- , Wolfram Henn
- , Sylvia Reichardt
- , Marianne Volleth
- , Markus Stumm
- , Christine Behrend
- , Klaus R Sandig
- , Christine Kelbova
- , Gabriele Senger
- , Beate Albrecht
- , Ingo Hansmann
- , Anita Heller
- , Uwe Claussen
- & Thomas Liehr
European Journal of Human Genetics 10 , 790–800

Rights & permissionsfor article Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements . Opens in a new window.
Research | 6 August 2008
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions
- Samarth Bhatt
- , Kamran Moradkhani
- , Kristin Mrasek
- , Jacques Puechberty
- , Marina Manvelyan
- , Friederike Hunstig
- , Genevieve Lefort
- , Anja Weise
- , James Lespinasse
- , Pierre Sarda
- , Thomas Liehr
- , Samir Hamamah
- & Franck Pellestor
European Journal of Human Genetics 17 , 44–50

Rights & permissionsfor article Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions . Opens in a new window.
Research | 20 November 2019 | Open
Integrative genetic map of repetitive DNA in the sole Solea senegalensis genome shows a Rex transposon located in a proto-sex chromosome
Scientific Reports 9 , 1–14

Rights & permissionsfor article Integrative genetic map of repetitive DNA in the sole Solea senegalensis genome shows a Rex transposon located in a proto-sex chromosome . Opens in a new window.
Research | 4 February 2019 | Open
Emerging patterns of genome organization in Notopteridae species (Teleostei, Osteoglossiformes) as revealed by Zoo-FISH and Comparative Genomic Hybridization (CGH)
Scientific Reports 9 , 1–11

Rights & permissionsfor article Emerging patterns of genome organization in Notopteridae species (Teleostei, Osteoglossiformes) as revealed by Zoo-FISH and Comparative Genomic Hybridization (CGH) . Opens in a new window.
Research | 30 January 2019
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes
European Journal of Human Genetics 27 , 760–771

Rights & permissionsfor article Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes . Opens in a new window.
Research | 8 November 2016 | Open
Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-factorial multidrug resistance
- Onat Kadioglu
- , Jingming Cao
- , Nadezda Kosyakova
- , Kristin Mrasek
- , Thomas Liehr
- & Thomas Efferth
Scientific Reports 6 , 1–18

Rights & permissionsfor article Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-factorial multidrug resistance . Opens in a new window.
Research | 11 May 2015
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
- Philipp G Maass
- , Atakan Aydin
- , Friedrich C Luft
- , Carolin Schächterle
- , Anja Weise
- , Sigmar Stricker
- , Carsten Lindschau
- , Martin Vaegler
- , Fatimunnisa Qadri
- , Hakan R Toka
- , Herbert Schulz
- , Peter M Krawitz
- , Dmitri Parkhomchuk
- , Jochen Hecht
- , Irene Hollfinger
- , Yvette Wefeld-Neuenfeld
- , Eireen Bartels-Klein
- , Astrid Mühl
- , Martin Kann
- , Herbert Schuster
- , David Chitayat
- , Martin G Bialer
- , Thomas F Wienker
- , Jürg Ott
- , Katharina Rittscher
- , Thomas Liehr
- , Jens Jordan
- , Ghislaine Plessis
- , Jens Tank
- , Knut Mai
- , Ramin Naraghi
- , Russell Hodge
- , Maxwell Hopp
- , Lars O Hattenbach
- , Andreas Busjahn
- , Anita Rauch
- , Fabrice Vandeput
- , Maolian Gong
- , Franz Rüschendorf
- , Norbert Hübner
- , Hermann Haller
- , Stefan Mundlos
- , Nihat Bilginturan
- , Matthew A Movsesian
- , Enno Klussmann
- , Okan Toka
- & Sylvia Bähring
Nature Genetics 47 , 647–653

Rights & permissionsfor article PDE3A mutations cause autosomal dominant hypertension with brachydactyly . Opens in a new window.
Research | 25 July 2012
16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
- John C K Barber
- , Victoria Hall
- , Viv K Maloney
- , Shuwen Huang
- , Angharad M Roberts
- , Angela F Brady
- , Nicki Foulds
- , Beverley Bewes
- , Marianne Volleth
- , Thomas Liehr
- , Karl Mehnert
- , Mark Bateman
- & Helen White
European Journal of Human Genetics 21 , 182–189

Rights & permissionsfor article 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 . Opens in a new window.

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Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations

Landscape of snake’ sex chromosomes evolution spanning 85 MYR reveals ancestry of sequences despite distinct evolutionary trajectories

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

Cytogenetic mechanisms of unisexuality in rock lizards

Thorough discussion of cancer research—thoughts against the main stream

European registration process for Clinical Laboratory Geneticists in genetic healthcare

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

Karyotyping of human synaptonemal complexes by cenM-FISH

Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line

Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker

High-throughput sequencing of microdissected chromosomal regions

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

Integrative genetic map of repetitive DNA in the sole Solea senegalensis genome shows a Rex transposon located in a proto-sex chromosome

Emerging patterns of genome organization in Notopteridae species (Teleostei, Osteoglossiformes) as revealed by Zoo-FISH and Comparative Genomic Hybridization (CGH)

Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes

Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-factorial multidrug resistance

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

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