Nature Search

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indications, molecular diagnosis and management of the newly defined Beckwith–Wiedemann spectrum.

Frédéric Brioude
Jennifer M. Kalish
Eamonn R. Maher
ReviewsOpen Access29 Jan 2018
Nature Reviews Endocrinology

Volume: 14, P: 229-249
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Elisabetta Di Fede
Valentina Massa
Cristina Gervasini
ResearchOpen Access08 Jul 2020
European Journal of Human Genetics

Volume: 29, P: 88-98
Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

Frédéric Brioude
Raoul Hennekam
Irene Netchine
Correspondence15 Feb 2018
European Journal of Human Genetics

Volume: 26, P: 471-472
Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11

Paul Grundy
Alex Koufos
Webster K. Cavenee
Research24 Nov 1988
Nature

Volume: 336, P: 374-376
Toward clinical long-read genome sequencing for rare diseases

Long-read genome sequencing has the potential to dramatically impact genetic diagnostics of rare diseases. This Perspective discusses the key challenges and benefits of the technology that will enable its more streamlined clinical implementation.

Jesper Eisfeldt
Marlene Ek
Anna Lindstrand
Reviews07 May 2025
Nature Genetics

Volume: 57, P: 1334-1343
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

Walsh and colleagues use prospective sequencing in a large cohort of pediatric patients with solid tumors to detect mutations in cancer predisposition genes and guide downstream clinical care.

Elise M. Fiala
Gowtham Jayakumaran
Michael F. Walsh
Research15 Feb 2021
Nature Cancer

Volume: 2, P: 357-365
Long-term cellular immunity of vaccines for Zaire Ebola Virus Diseases

In this immunological ancillary study of the PREVAC trial, the authors show that approved Ebola virus vaccines induce memory T-cell responses that persist during the five year follow-up after initial vaccination.

Aurélie Wiedemann
Edouard Lhomme
Huanying Zhou
ResearchOpen Access03 Sept 2024
Nature Communications

Volume: 15, P: 1-15
Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy

Diana Massalska
Katarzyna Ozdarska
Janusz Grzegorz Zimowski
Research01 Jun 2020
Journal of Human Genetics

Volume: 65, P: 889-894
Cryptic taxonomic diversity and high-latitude melanism in the glossiphoniid leech assemblage from the Eurasian Arctic

Ivan N. Bolotov
Alexander V. Kondakov
Maxim V. Vinarski
ResearchOpen Access30 Nov 2022
Scientific Reports

Volume: 12, P: 1-25
Glucaric Acid Excretion as Index of Hepatic Glucuronidation in Neonates after Phenobarbital Treatment

Edmund Talafant
Anna Hošková
Anna Pojerová
Research01 May 1975
Pediatric Research

Volume: 9, P: 480-483
Glucocorticoid receptor triggers a reversible drug-tolerant dormancy state with acquired therapeutic vulnerabilities in lung cancer

Glucocorticoids (GC) are reported to block cancer cell proliferation, but the mode of action is unclear. Here the authors show that glucocorticoid receptor activation induces cancer cell dormancy in lung cancer by regulating CDKN1C expression through a distal enhancer, and these dormant cells are addicted to IGF-1R signalling pathway.

Stefan Prekovic
Karianne Schuurman
Wilbert Zwart
ResearchOpen Access16 Jul 2021
Nature Communications

Volume: 12, P: 1-18
Cancer risk in individuals with polydactyly: a Swedish population-based cohort study

Alexandra Wachtmeister
Giorgio Tettamanti
Ann Nordgren
ResearchOpen Access29 Jun 2024
British Journal of Cancer

Volume: 131, P: 755-762
Cryopreserved embryo replacement is associated with higher birthweight compared with fresh embryo: multicentric sibling embryo cohort study

Margaux Anav
Simon Phillips
Samir Hamamah
ResearchOpen Access16 Sept 2019
Scientific Reports

Volume: 9, P: 1-7
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

Maria Clara Bonaglia
Roberto Giorda
Orsetta Zuffardi
Research15 Oct 2008
European Journal of Human Genetics

Volume: 17, P: 426-433
Identification of large offspring syndrome during pregnancy through ultrasonography and maternal blood transcriptome analyses

Rocío Melissa Rivera
Anna Katherine Goldkamp
Christine G. Elsik
ResearchOpen Access22 Jun 2022
Scientific Reports

Volume: 12, P: 1-16
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio
Pablo Alarcón
Pablo Lapunzina
Research04 Nov 2019
European Journal of Human Genetics

Volume: 28, P: 469-479
Cloning of two candidate tumor suppressor genes within a 10 kb region on chromosome 13q14, frequently deleted in chronic lymphocytic leukemia

Yie Liu
Martin Corcoran
David Oscier
Research13 Nov 1997
Oncogene

Volume: 15, P: 2463-2473
Thermal conductance of Nb thin films at sub-kelvin temperatures

A. V. Feshchenko
O.-P. Saira
J. P. Pekola
ResearchOpen Access03 Feb 2017
Scientific Reports

Volume: 7, P: 1-13
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Jana Herholz
Alessandra Meloni
Frank Rutsch
Research16 Feb 2011
European Journal of Human Genetics

Volume: 19, P: 525-533
Evidence that recent climatic changes have expanded the potential geographical range of the Mediterranean fruit fly

Anna M. Szyniszewska
Hanna Bieszczak
Darren J. Kriticos
ResearchOpen Access30 Jan 2024
Scientific Reports

Volume: 14, P: 1-13
Monitoring of minimal residual leukemia in patients with MLL-AF9 positive acute myeloid leukemia by RT-PCR

G Mitterbauer
C Zimmer
C Mannhalter
Research07 Oct 1999
Leukemia

Volume: 13, P: 1519-1524
Author Correction: The impact of the initial COVID-19 outbreak on young adults’ mental health: a longitudinal study of risk and resilience factors

Anna Wiedemann
Jan Stochl
Peter B. Jones
Amendments and CorrectionsOpen Access24 Mar 2025
Scientific Reports

Volume: 15, P: 1-2
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane
Cecilia Marelli
Michel Koenig
Research07 Jul 2021
Genetics in Medicine

Volume: 23, P: 2160-2170
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

Mari Muurinen
Katariina Hannula-Jouppi
Juha Kere
ResearchOpen Access16 Nov 2017
Scientific Reports

Volume: 7, P: 1-11
Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL

Luciana M. Fontanari Krause
Anna Sophia Japp
Stefan K. Bohlander
ResearchOpen Access09 Oct 2014
Scientific Reports

Volume: 4, P: 1-10
Genetic variability and gene flow in geographical populations of Ceratitis capitata (Wied.) (medfly)

Giuliano Gasperi
Carmela R Guglielmino
Riccardo Milani
Research01 Dec 1991
Heredity

Volume: 67, P: 347-356
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer

Rabea Wagener
Julia Taeubner
Triantafyllia Brozou
ResearchOpen Access12 Apr 2021
European Journal of Human Genetics

Volume: 29, P: 1301-1311
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Ana Latorre-Pellicer
Marta Gil-Salvador
Juan Pié
ResearchOpen Access29 Jul 2021
Scientific Reports

Volume: 11, P: 1-11
Disentangling the roles of dopamine and noradrenaline in the exploration-exploitation tradeoff during human decision-making

Anna Cremer
Felix Kalbe
Lars Schwabe
ResearchOpen Access15 Dec 2022
Neuropsychopharmacology

Volume: 48, P: 1078-1086
The impact of the initial COVID-19 outbreak on young adults’ mental health: a longitudinal study of risk and resilience factors

Anna Wiedemann
Jan Stochl
Peter B. Jones
ResearchOpen Access05 Oct 2022
Scientific Reports

Volume: 12, P: 1-14
A mind-brain-body dataset of MRI, EEG, cognition, emotion, and peripheral physiology in young and old adults

Anahit Babayan
Miray Erbey
Arno Villringer
ResearchOpen Access12 Feb 2019
Scientific Data

Volume: 6, P: 1-21
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

Joyce C Harper
Joep Geraedts
Milan Macek Jr
ReviewsOpen Access14 Nov 2013
European Journal of Human Genetics

Volume: 21, P: S1-S21
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Ali Abbas
Sheryl Ann Abdukahil
Luis Felipe Reyes
ResearchOpen Access30 Jul 2022
Scientific Data

Volume: 9, P: 1-22

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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11

Toward clinical long-read genome sequencing for rare diseases

Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

Long-term cellular immunity of vaccines for Zaire Ebola Virus Diseases

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy

Cryptic taxonomic diversity and high-latitude melanism in the glossiphoniid leech assemblage from the Eurasian Arctic

Glucaric Acid Excretion as Index of Hepatic Glucuronidation in Neonates after Phenobarbital Treatment

Glucocorticoid receptor triggers a reversible drug-tolerant dormancy state with acquired therapeutic vulnerabilities in lung cancer

Cancer risk in individuals with polydactyly: a Swedish population-based cohort study

Cryopreserved embryo replacement is associated with higher birthweight compared with fresh embryo: multicentric sibling embryo cohort study

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

Identification of large offspring syndrome during pregnancy through ultrasonography and maternal blood transcriptome analyses

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Cloning of two candidate tumor suppressor genes within a 10 kb region on chromosome 13q14, frequently deleted in chronic lymphocytic leukemia

Thermal conductance of Nb thin films at sub-kelvin temperatures

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Evidence that recent climatic changes have expanded the potential geographical range of the Mediterranean fruit fly

Monitoring of minimal residual leukemia in patients with MLL-AF9 positive acute myeloid leukemia by RT-PCR

Author Correction: The impact of the initial COVID-19 outbreak on young adults’ mental health: a longitudinal study of risk and resilience factors

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL

Genetic variability and gene flow in geographical populations of Ceratitis capitata (Wied.) (medfly)

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Disentangling the roles of dopamine and noradrenaline in the exploration-exploitation tradeoff during human decision-making

The impact of the initial COVID-19 outbreak on young adults’ mental health: a longitudinal study of risk and resilience factors

A mind-brain-body dataset of MRI, EEG, cognition, emotion, and peripheral physiology in young and old adults

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

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