(Q29465788)

18 April 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development (English)

1 reference

Collaborative Research Centre (CRC) 1002: "Modulatory Units in Heart Failure"

18 April 2017

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main subject

Structural maintenance of chromosomes flexible hinge domain containing 1

1 reference

GOA release 2020-03-11

nose development

1 reference

BOSMA Arhinia Microphthalmia Syndrome

GOA release 2020-03-11

1 reference

12

0 references

Gökhan Yigit

3

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Peter Nürnberg

16

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Nadine Rosin

6

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Bernd Wollnik

50

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Stanislas Lyonnet

45

Stanislas Lyonnet

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Hulya Kayserili

40

Hülya Kayserili

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Patrick Nitschké

33

Patrick Nitschké

1 reference

18 April 2017

Christine Bôle-Feysot

32

Christine Bole-Feysot

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Hicham Filali

Hicham Filali

4

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Christopher T Gordon

Christopher T Gordon

1

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Frederique Magdinier

Frédérique Magdinier

46

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James Murphy

James M Murphy

41

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Jeanne Amiel

Jeanne Amiel

49

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Dieter Meschede

17

Dieter Meschede

1 reference

18 April 2017

48

Marnie E Blewitt

1 reference

18 April 2017

14

Holger Thiele

1 reference

ORCID Public Data File 2021

18 April 2017

1 reference

Myriam Oufadem

8

Myriam Oufadem

1 reference

18 April 2017

10

Ruth McGowan

1 reference

18 April 2017

22

Sabine Sigaudy

1 reference

18 April 2017

34

Nicola Ragge

1 reference

18 April 2017

Shifeng Xue

2

1 reference

18 April 2017

Kelan Chen

5

1 reference

18 April 2017

Koh-Ichiro Yoshiura

7

1 reference

18 April 2017

Tamara J Beck

9

1 reference

18 April 2017

Alex C Magee

11

1 reference

18 April 2017

Camille Dion

13

1 reference

18 April 2017

Alexandra D Gurzau

15

1 reference

18 April 2017

Wolfgang Mühlbauer

18

1 reference

18 April 2017

Nobuhiko Okamoto

19

1 reference

18 April 2017

Vinod Varghese

20

1 reference

18 April 2017

Rachel Irving

21

1 reference

18 April 2017

Denise Williams

23

1 reference

18 April 2017

S Faisal Ahmed

24

1 reference

18 April 2017

Carine Bonnard

25

1 reference

18 April 2017

Mung Kei Kong

26

1 reference

18 April 2017

Ilham Ratbi

27

1 reference

18 April 2017

Nawfal Fejjal

28

1 reference

18 April 2017

Meriem Fikri

29

1 reference

18 April 2017

Siham Chafai Elalaoui

30

1 reference

18 April 2017

Hallvard Reigstad

31

1 reference

18 April 2017

Nicolas Lévy

35

1 reference

18 April 2017

Gökhan Tunçbilek

36

1 reference

18 April 2017

Audrey S M Teo

37

1 reference

18 April 2017

Michael L Cunningham

38

1 reference

18 April 2017

Abdelaziz Sefiani

39

1 reference

18 April 2017

Chalermpong Chatdokmaiprai

42

1 reference

18 April 2017

Axel M Hillmer

43

1 reference

18 April 2017

Duangrurdee Wattanasirichaigoon

44

1 reference

18 April 2017

Asif Javed

47

1 reference

18 April 2017

Bruno Reversade

51

1 reference

18 April 2017

language of work or name

English

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publication date

9 January 2017

1 reference

https://sfb1002.med.uni-goettingen.de/production/literature/publications/456/

18 April 2017

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published in

Nature Genetics

1 reference

18 April 2017

49

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18 April 2017

2

1 reference

18 April 2017

249-255

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SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

18 April 2017

1 reference

Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes

21 April 2017

1 reference

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

21 April 2017

1 reference

A unifying genetic model for facioscapulohumeral muscular dystrophy

21 April 2017

1 reference

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

21 April 2017

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 April 2017

1 reference

The Sequence Alignment/Map format and SAMtools

21 April 2017

1 reference

21 April 2017

1 reference

dbSNP: the NCBI database of genetic variation

21 April 2017

1 reference

GENCODE: the reference human genome annotation for The ENCODE Project

21 April 2017

1 reference

A global reference for human genetic variation

21 April 2017

1 reference

A method and server for predicting damaging missense mutations

21 April 2017

1 reference

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 April 2017

1 reference

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 April 2017

1 reference

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 April 2017

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 April 2017

1 reference

MethPrimer: designing primers for methylation PCRs

21 April 2017

1 reference

The Phyre2 web portal for protein modeling, prediction and analysis

21 April 2017

1 reference

Deciphering key features in protein structures with the new ENDscript server

21 April 2017

1 reference

The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.

21 April 2017

1 reference

Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.

22 May 2017

1 reference

GnRH, anosmia and hypogonadotropic hypogonadism--where are we?

21 January 2018

1 reference

Novel skeletogenic patterning roles for the olfactory pit.

21 January 2018

1 reference

Genomics of mature and immature olfactory sensory neurons

21 January 2018

1 reference

Hypogonadotropic hypogonadism presenting with arhinia: a case report

21 January 2018

1 reference

Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

21 January 2018

1 reference

Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway

21 January 2018

1 reference

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

21 January 2018

1 reference

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

21 January 2018

1 reference

SMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaks

21 January 2018

1 reference

Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage

21 January 2018

1 reference

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

21 January 2018

1 reference

Clinical features of facioscapulohumeral muscular dystrophy 2.

21 January 2018

1 reference

Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.

21 January 2018

1 reference

GHKL, an emergent ATPase/kinase superfamily

21 January 2018

1 reference

Phen-Gen: combining phenotype and genotype to analyze rare disorders

21 January 2018

1 reference

Agile parallel bioinformatics workflow management using Pwrake

21 January 2018

1 reference

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

21 January 2018

1 reference

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

21 January 2018

1 reference

Regional methylation of the 5' end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells

21 January 2018

1 reference

BiQ Analyzer: visualization and quality control for DNA methylation data from bisulfite sequencing.

21 January 2018

1 reference

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

21 January 2018

1 reference

Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells

21 January 2018

1 reference

Bosma arhinia microphthalmia syndrome

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3765

1 reference

Dimensions Publication ID

18 April 2017

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1 reference