(Q56266779)

5

object named as

Tiancheng Wang

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Elizabeth J Bhoj

1

object named as

Elizabeth J Bhoj

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Margaret H Harr

3

object named as

Margaret H Harr

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author name string

Dong Li

2

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Lifeng Tian

4

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Yan Zhao

6

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Haijun Qiu

7

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Cecilia Kim

8

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Jodi D Hoffman

9

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Elaine H Zackai

American Journal of Medical Genetics

11

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language of work or name

English

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publication date

November 2015

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published in

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volume

167A

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issue

11

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page(s)

2497-502

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cites work

G syndrome: an unusual family.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Robust relationship inference in genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

New autosomal dominant syndrome resembling craniofrontonasal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

Teebi hypertelorism syndrome: report of a family with previously unrecognized findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37217