(Q57161336)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044680%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families (English)

1 reference

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10 March 2020

0 references

Periklis Makrythanasis

1

1 reference

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10 March 2020

Federico A Santoni

3

1 reference

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10 March 2020

Samia A Temtamy

9

1 reference

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10 March 2020

Mona S Aglan

12

1 reference

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10 March 2020

Maha Zaki

13

1 reference

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Mariana Bustamante Eduardo

10 March 2020

18

1 reference

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10 March 2020

David N. Cooper

33

1 reference

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10 March 2020

Stilianos Antonarakis

35

1 reference

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10 March 2020

author name string

Mari Nelis

2

1 reference

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10 March 2020

Michel Guipponi

4

1 reference

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10 March 2020

Anne Vannier

5

1 reference

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10 March 2020

Frédérique Béna

6

1 reference

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10 March 2020

Stefania Gimelli

7

1 reference

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10 March 2020

Elisavet Stathaki

8

1 reference

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10 March 2020

André Mégarbané

10

1 reference

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10 March 2020

Amira Masri

11

1 reference

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10 March 2020

Armand Bottani

14

1 reference

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10 March 2020

Siv Fokstuen

15

1 reference

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10 March 2020

Lorraine Gwanmesia

16

1 reference

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10 March 2020

Konstantinos Aliferis

17

1 reference

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10 March 2020

Georgios Stamoulis

19

1 reference

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10 March 2020

Stavroula Psoni

20

1 reference

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10 March 2020

Sofia Kitsiou-Tzeli

21

1 reference

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10 March 2020

Helen Fryssira

22

1 reference

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10 March 2020

Emmanouil Kanavakis

23

1 reference

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10 March 2020

Nasir Al-Allawi

24

1 reference

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10 March 2020

Abdelaziz Sefiani

25

1 reference

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10 March 2020

Sana' Al Hait

26

1 reference

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10 March 2020

Nadine Jalkh

28

1 reference

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10 March 2020

Fatma Al-Jasmi

30

1 reference

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10 March 2020

Habiba Chaabouni Bouhamed

31

1 reference

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10 March 2020

Ebtesam Abdalla

32

1 reference

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10 March 2020

Hanan Hamamy

34

1 reference

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10 March 2020

Siham C Elalaoui

27

1 reference

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10 March 2020

Lihadh Al-Gazali

29

1 reference

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10 March 2020

publication date

18 August 2014

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10 March 2020

1 reference

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10 March 2020

volume

35

1 reference

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10 March 2020

issue

10

1 reference

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10 March 2020

page(s)

1203-1210

1 reference

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A method and server for predicting damaging missense mutations

10 March 2020

cites work

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7 January 2021

Genetic disorders in the Arab world

1 reference

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7 January 2021

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

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7 January 2021

Carrier testing for severe childhood recessive diseases by next-generation sequencing

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7 January 2021

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

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7 January 2021

beta 0 thalassemia, a nonsense mutation in man

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7 January 2021

A new familial sclerosing bone dysplasia.

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7 January 2021

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

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7 January 2021

Distribution and intensity of constraint in mammalian genomic sequence

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7 January 2021

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

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7 January 2021

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

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7 January 2021

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

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7 January 2021

Consanguineous marriages : Preconception consultation in primary health care settings

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7 January 2021

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

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

1 reference

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7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

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7 January 2021

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

High-throughput sequencing and rare genetic diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

1 reference

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7 January 2021

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Consanguinity and recurrence risk of birth defects: a population-based study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation

1 reference

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7 January 2021

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

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7 January 2021

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

1 reference

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7 January 2021

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

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7 January 2021

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

1 reference

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7 January 2021

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

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7 January 2021

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

1 reference

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7 January 2021

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22617

7 January 2021

Identifiers

DOI

10.1002/HUMU.22617

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25044680%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference