"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: Expanding the phenotype.
American journal of medical genetics. Part A
, 2013 Jan: 161(1)108-13
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
American journal of human genetics
, 2012 May 4: 90(5)907-14
New developments in genetic diagnosis: implications for the craniofacial surgeon.
The Journal of craniofacial surgery
, 2012 Jan: 23(1)212-6
IGF1R variants associated with isolated single suture craniosynostosis.
American journal of medical genetics. Part A
, 2011 Jan: 155A(1)91-7
Copy number variation analysis in single-suture
craniosynostosis: multiple rare variants including RUNX2
duplication in two cousins with metopic craniosynostosis.
American journal of medical genetics. Part
A
, 2010 Sep: 2203-10
Recurrent 200-kb deletions of 16p11.2 that include the
SH2B1 gene are associated with developmental delay and
obesity.
Genetics in medicine : official journal of the
American College of Medical Genetics
, 2010 Aug 30
Picture perfect? Reliability of craniofacial anthropometry
using three-dimensional digital stereophotogrammetry.
Plastic and reconstructive
surgery
, 2009 Oct: 1261-72
Bilateral lambdoid and sagittal synostosis (BLSS): a
unique craniosynostosis syndrome or predictable craniofacial
phenotype?
American journal of medical genetics. Part
A
, 2009 May: 1024-32
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
American journal of human genetics
, 2009 Mar: 84(3)406-11
Germline mutations in WTX cause a sclerosing skeletal
dysplasia but do not predispose to tumorigenesis.
Nature genetics
, 2009 Jan: 95-100
Unexpected structural complexity of supernumerary marker
chromosomes characterized by microarray comparative genomic
hybridization.
Molecular Cytogenetics
, 2008 Apr 21: 7
The morphogenesis of wormian bones: a study of
craniosynostosis and purposeful cranial deformation.
American journal of medical genetics. Part
A
, 2007 Dec 15: 3243-51
Sleep disturbances in 22q11.2 deletion syndrome: a case
with obstructive and central sleep apnea.
The Cleft palate-craniofacial journal : official
publication of the American Cleft Palate-Craniofacial
Association
, 2007 May: 340-6
Syndromic craniosynostosis: from history to hydrogen
bonds.
Orthodontics & craniofacial
research
, 2007 May: 67-81
Isolated sagittal and coronal craniosynostosis associated
with TWIST box mutations.
American journal of medical genetics. Part
A
, 2007 Apr 1: 678-86
A novel oculo-oto-facial dysplasia in a Native Alaskan
community with autosomal recessive inheritance.
American journal of medical genetics. Part
A
, 2006 Apr 15: 804-12
New scaphocephaly severity indices of sagittal
craniosynostosis: a comparative study with cranial index
quantifications.
The Cleft palate-craniofacial journal : official
publication of the American Cleft Palate-Craniofacial
Association
, 2006 Mar: 211-21
Cleidocranial dysplasia with severe parietal bone
dysplasia: C-terminal RUNX2 mutations.
Birth defects research. Part A, Clinical and
molecular teratology
, 2006 Feb: 78-85
MDCT diagnosis of the child with posterior
plagiocephaly.
AJR. American journal of
roentgenology
, 2005 Nov: 1342-6
Familial acromelic frontonasal dysostosis: autosomal
dominant inheritance with reduced penetrance.
American journal of medical genetics. Part
A
, 2004 Aug 1: 374-82