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List of works by Ethylin Wang Jabs

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

scientific journal article

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

scientific article published in June 2010

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

scientific article

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form

scientific article

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis

scientific article published on 11 January 2006

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

scientific article

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

scientific article published on 31 January 2013

A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development

scientific article published in November 2005

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

scientific article

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

scientific article

Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse

scientific article published on 23 June 2005

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice

scientific article

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.

scientific article

Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both

scientific article published on 01 January 1991

American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12

article

Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes

scientific article

Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5

scientific article (publication date: September 1992)

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations

scientific article

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

scientific article

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

article

Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis.

scientific article published on 31 May 2011

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families

Aural atresia associated with multiple congenital anomalies and mental retardation: a new syndrome

scientific article published in May 1987

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus

scientific article published in December 1997

BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development

scientific article published on 12 December 2014

BMP4 was associated with NSCL/P in an Asian population

scientific article

Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth

scientific article

Brain phenotypes in two FGFR2 mouse models for Apert syndrome

scientific article

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes

scientific article

Characterization of reiterated human DNA with respect to mammalian X chromosome homology

scientific article published on 01 January 1984

Chromosomal deletion 4p15.32→p14 in a treacher collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region ⬇️

scientific article published on September 1, 1991

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

scientific article published on 25 April 2024

Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade

scientific article published on September 2014

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

scientific article published on August 2006

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

scientific article

Conrneal tyrosine crystals in transient neonatal tyrosinemia

scientific article published on 01 July 1988

Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice

scientific article

Craniosynostosis

Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies

scientific article published on 01 January 1993

De minimis risk: a proposal for a new category of research risk

scientific article published in November 2011

Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public

scientific article

Development of a microsatellite genetic map spanning 5q31–q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9

article

Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.

scientific article

Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations

scientific article

Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5.

scientific article

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

scientific article

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice

scientific article published on 07 February 2014

Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

scientific article published in August 2010

Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

scientific article published in September 2011

Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate

scientific article

Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate

scientific article published on 12 January 2012

Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate

scientific article published on 6 February 2014

Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms

scientific article

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.

scientific article

Exome sequencing identifies the cause of a mendelian disorder

scientific article

FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models

scientific article

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome

scientific article published on 8 March 2013

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

scientific article published on May 2009

Gene expression in pharyngeal arch 1 during human embryonic development

scientific article published on 9 February 2005

Genetic and Lifestyle Causal Beliefs about Obesity and Associated Diseases among Ethnically Diverse Patients: A Structured Interview Study ⬇️

scientific article published on December 12, 2012

Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region

scientific article published in October 1993

Genetic basis of potential therapeutic strategies for craniosynostosis

Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

scientific article

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

scientific article published on 14 March 2012

Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes

scientific article published on 19 April 2005

Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfbeta3).

scientific article

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice

scientific article

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

scientific article

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts

scientific article

Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease.

scientific article

Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain

scientific article (publication date: 30 January 1993)

Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence

scientific article published in November 1995

Human rod cGMP-gated cation channel gene maps to 4p12-->centromere by chromosomal in situ hybridization.

scientific article

HumanSLUGGene Organization, Expression, and Chromosome Map Location on 8q ⬇️

scientific article published on August 1, 1998

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing

scientific article published on October 2014

Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1 ⬇️

scientific article published on June 23, 1998

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

scientific article published on 25 September 2003

Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium

scientific article

Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24

scientific article (publication date: 1994)

Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25

scientific article (publication date: June 1994)

Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice.

scientific article

Mapping the intron-containing human hsp90 alpha (HSPCAL4) gene to chromosome band 14q32.

scientific article published in January 1993

Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations

scientific article published on 14 January 2009

Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects

scholarly article by Greg Holmes published in October 2018

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

scientific article published on 22 March 2002

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

scientific article published on 01 June 2005

Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.

scientific article

Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18

scientific article

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

scientific article (publication date: March 2004)

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis

scientific article published on March 2016

Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

article

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

scientific article

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

scientific article

Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population

scientific article published on 17 August 2015

Novel genes mapping to the critical region of the 5q- syndrome.

scientific article published on October 1997

Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome

scientific article

OTX2 mutations contribute to the otocephaly-dysgnathia complex

scientific article published on 10 May 2012

Ocular Histopathology and Ultrastructure of Sanfilippo's Syndrome, Type III-B

scientific article published on 01 August 1983

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

scientific article published on 17 January 2006

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

scientific article

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

scientific article

Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family

scientific article published on 30 June 2009

Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.

scientific article

Polymorphisms in the Human SNAIL (SNAI1) gene

scientific article published in February 2001

Postnatal brain and skull growth in an Apert syndrome mouse model.

scientific article published on 12 March 2013

Prenatal identification of small mosaic markers of different chromosomal origins

scientific article published on February 1, 1992

Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach

scientific article published on 9 December 2014

Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study

scientific article

Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation

scientific article

Reconstructive Surgery in Times of Conflict

scientific article published on 14 July 2016

Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis

scientific article published in April 2001

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

scientific article

Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management

scientific article published in June 1992

Sclerosteosis involving the temporal bone: clinical and radiologic aspects

scientific article

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia

scientific article

Structure of the human spermidine/spermine N1-acetyltransferase gene

scientific article (publication date: September 1992)

Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism

article

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

scientific article published in November 2001

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

article by Alessandra Splendore et al published 29 July 2002 in American Journal of Medical Genetics Part A

Ten-year experience of more than 35,000 orofacial clefts in Africa

scientific article

Tgfbeta3 regulation of chondrogenesis and osteogenesis in zebrafish is mediated through formation and survival of a subpopulation of the cranial neural crest

scientific article published on 18 April 2010

The CEPH Consortium Linkage Map of Human Chromosome 13

article

The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.

scientific article

The FaceBase Consortium: a comprehensive resource for craniofacial researchers

scientific article published on 10 June 2016

The IPP Gene Is Assigned to Human Chromosome 1p32-1p22

article

The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice

scientific article

The gene for human phosducin (PDC), a soluble protein that binds G-protein beta gamma dimers, maps to 1q25-q31.1

scientific article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

scientific article

The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm

scientific article

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

scientific article published in March 2004

The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model

scientific article

The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect

scientific article

Tissue-specific responses to aberrant FGF signaling in complex head phenotypes

scientific article published on 5 December 2012

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

Two craniosynostotic patients with 11q deletions, and review of 48 cases.

scientific article

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

article by Xiang Li et al published 15 July 1994 in Genomics

Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V

scientific article published on 27 October 2009

Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study

scientific article published on 22 June 2013

Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors

scientific article published on 11 October 2007

[10]Isolating and mapping coding regions from complex genomes: Direct cDNA selection

article published in 1996

p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice

scientific article

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