Ethylin Wang Jabs

Ethylin Wang Jabs's AcademicInfluence.com Rankings

Ethylin Wang Jabs

Philosophy

#7264

World Rank

#10452

Historical Rank

#1616

USA Rank

Logic

#7099

World Rank

#8740

Historical Rank

#1022

USA Rank

philosophy Degrees

Download Badge

Philosophy

Ethylin Wang Jabs's Degrees

Doctorate Medicine Johns Hopkins University
PhD Biomedical Sciences Harvard University

Why Is Ethylin Wang Jabs Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Ethylin Wang Jabs is an American physician and scientist with expertise in medical genetics, pediatrics, and craniofacial biology. She is currently vice chair of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai Medical Center. Jabs is also a professor in the departments of developmental and regenerative biology and pediatrics at Mount Sinai and an adjunct professor in pediatrics, medicine, and surgery at the Johns Hopkins School of Medicine. Her research and clinical practice have focused on development genetics and patients with birth defects.

(See a Problem?)

Ethylin Wang Jabs's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Exome sequencing identifies the cause of a Mendelian disorder (2009) (2068)
Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR. (1992) (728)
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis (1993) (663)
Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome (1997) (635)
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (2003) (601)
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. (1994) (520)
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 (2010) (503)
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome (2004) (457)
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 (1994) (448)
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1. (1998) (420)
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion (2005) (383)
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans (1995) (365)
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. (2002) (360)
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. (2005) (328)
Clinical spectrum of fibroblast growth factor receptor mutations (1999) (307)
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. (2006) (306)
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. (2001) (251)
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. (1995) (246)
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype (2009) (245)
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. (1999) (235)
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (1998) (206)
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene (2005) (200)
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2+/S252W mouse (2005) (185)
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (2000) (181)
Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome (1996) (177)
Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis (2001) (174)
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer (2005) (173)
Characterization of an alpha 1----3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene. (1991) (172)
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. (1995) (169)
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. (1996) (166)
The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. (2003) (165)
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. (1997) (159)
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. (2012) (159)
Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palate (2011) (156)
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. (1999) (153)
American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12. (1998) (145)
Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5. (1992) (139)
Receptor Tyrosine Kinases Activate Canonical WNT/β-Catenin Signaling via MAP Kinase/LRP6 Pathway and Direct β-Catenin Phosphorylation (2012) (137)
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. (2008) (119)
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. (1997) (117)
Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia (2005) (116)
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA 4 (2010) (115)
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations (2007) (111)
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. (2000) (110)
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 (2012) (108)
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. (2013) (105)
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. (1999) (105)
Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation. (1984) (101)
The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization. (1993) (100)
Frontal and Caudate Alterations in Velocardiofacial Syndrome (Deletion at Chromosome 22q11.2) (2004) (99)
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (2007) (98)
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells (2006) (96)
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. (2002) (92)
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome (1995) (82)
A human synaptic vesicle monoamine transporter cDNA predicts posttranslational modifications, reveals chromosome 10 gene localization and identifies TaqI RFLPs (1993) (80)
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. (1999) (78)
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. (1986) (76)
Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study (2011) (75)
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening (2003) (75)
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm (2006) (73)
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses (2014) (72)
Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate (2010) (72)
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. (1991) (72)
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R mice (2010) (71)
Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats. (1989) (71)
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion (2018) (69)
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome (2009) (68)
Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates (1998) (67)
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. (2012) (65)
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. (1999) (63)
Genetic basis of potential therapeutic strategies for craniosynostosis (2010) (63)
OTX2 mutations contribute to the otocephaly-dysgnathia complex (2012) (62)
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome (2017) (62)
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. (1994) (61)
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts (2005) (60)
Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study (2013) (60)
Dear old dad. (2004) (60)
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (1998) (59)
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle (2002) (59)
Ten-year experience of more than 35,000 orofacial clefts in Africa (2015) (58)
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (2012) (57)
Genetic and Environmental Risk Factors for Sagittal Craniosynostosis (2002) (57)
Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 (2010) (56)
Beyond the closed suture in apert syndrome mouse models: Evidence of primary effects of FGFR2 signaling on facial shape at birth (2010) (55)
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. (1995) (55)
Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P). (1999) (55)
The FaceBase Consortium: a comprehensive resource for craniofacial researchers (2016) (55)
The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect (2009) (55)
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations (2006) (54)
Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations (2009) (53)
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. (1999) (52)
FGF/FGFR Signaling Coordinates Skull Development by Modulating Magnitude of Morphological Integration: Evidence from Apert Syndrome Mouse Models (2011) (52)
Tissue‐specific responses to aberrant FGF signaling in complex head phenotypes (2013) (50)
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. (1993) (49)
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. (1997) (48)
p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. (2012) (48)
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis (2006) (47)
Brain phenotypes in two FGFR2 mouse models for Apert syndrome (2010) (47)
Human SLUG gene organization, expression, and chromosome map location on 8q. (1998) (47)
Second‐trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings (1999) (47)
Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1). (1992) (46)
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome (2000) (46)
Two craniosynostotic patients with 11q deletions, and review of 48 cases. (1995) (46)
Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis. (2011) (45)
The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model. (2008) (44)
The FGF and FGFR Gene Family and Risk of Cleft Lip with or Without Cleft Palate (2013) (44)
Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans. (1993) (44)
Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome (2006) (43)
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms (2009) (43)
Receptor Tyrosine Kinases Activate Canonical WNT/?-Catenin Signaling via MAP Kinase/LRP6 Pathway and Direct Beta-Catenin Phosphorylation (2012) (43)
Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences. (1987) (43)
Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public (2015) (41)
Gene expression in pharyngeal arch 1 during human embryonic development. (2005) (40)
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. (2001) (40)
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. (1993) (40)
Genome wide study of maternal and parent‐of‐origin effects on the etiology of orofacial clefts (2012) (40)
Prenatal ultrasonographic and molecular diagnosis of apert syndrome (1997) (40)
Parental origin of mutations in sporadic cases of Treacher Collins syndrome (2003) (39)
Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A. (1993) (39)
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. (2005) (37)
Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain. (1993) (37)
Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations (2002) (36)
Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. (1994) (35)
Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice (2014) (35)
Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25. (1994) (35)
Development of a microsatellite genetic map spanning 5q31–q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9 (1994) (34)
From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome (2013) (34)
BMP4 Was Associated with NSCL/P in an Asian Population (2012) (34)
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21 (2003) (33)
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. (1991) (33)
Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. (2014) (32)
De Minimis Risk: A Proposal for a New Category of Research Risk (2011) (32)
A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form (2014) (32)
Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate. (2012) (31)
Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism (1991) (31)
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. (2001) (31)
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene (1988) (31)
Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. (1992) (31)
Evidence of Gene−Environment Interaction for Two Genes on Chromosome 4 and Environmental Tobacco Smoke in Controlling the Risk of Nonsyndromic Cleft Palate (2014) (31)
A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development. (2001) (30)
Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both. (1991) (29)
Differential parental transmission of markers in RUNX2 among cleft case‐parent trios from four populations (2008) (29)
A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33. (1994) (29)
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations (2010) (28)
Oral Clefting in China Over the Last Decade: 205,679 Patients (2014) (27)
Mild mandibulofacial dysostosis in a child with a deletion of 3p. (1993) (27)
Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes (2017) (27)
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. (1999) (27)
Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach (2016) (26)
A genome wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP 2 and within BBS 9 (2012) (25)
Postnatal brain and skull growth in an Apert syndrome mouse model (2013) (25)
Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B. (1983) (24)
Tetrasomy 21 in an infant with Down syndrome and congenital leukemia. (1982) (24)
Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis (2020) (24)
Roberts/Pseudothalidomide Syndrome and Normal Intelligence: Approaches'to Diagnosis and Management (1992) (24)
Single maxillary central incisor and coloboma in hypomelanosis of Ko (1987) (23)
Genetic Etiologies of Craniosynostosis (2003) (23)
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes. (2014) (23)
Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6. (1988) (23)
Novel genes mapping to the critical region of the 5q- syndrome. (1997) (23)
Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009. (2009) (23)
Partial gonadal dysgenesis in a patient with a marker Y chromosome. (1992) (22)
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis (2016) (22)
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. (2002) (21)
tgfβ3 regulation of chondrogenesis and osteogenesis in zebrafish is mediated through formation and survival of a subpopulation of the cranial neural crest (2010) (21)
Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome (2017) (21)
Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients (2006) (20)
A centromere-based genetic map of the short arm of human chromosome 6. (1991) (20)
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. (2014) (20)
Genetic and Lifestyle Causal Beliefs about Obesity and Associated Diseases among Ethnically Diverse Patients: A Structured Interview Study (2012) (20)
Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfβ3) (2005) (20)
Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes. (1986) (20)
Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects (2018) (19)
Embryonic craniofacial bone volume and bone mineral density in Fgfr2+/P253R and nonmutant mice (2014) (18)
Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence (1995) (18)
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 (2014) (18)
Prenatal identification of small mosaic markers of different chromosomal origins (1992) (18)
Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. (1997) (17)
Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene (1999) (17)
Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies. (1993) (17)
Physical mapping of the human (2000) (17)
FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research (2020) (17)
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with treacher collins syndrome (2004) (16)
A novel mutation in the TWIST gene, implicated in Saethre–Chotzen syndrome, is found in the original case of Robinow–Sorauf syndrome (2003) (16)
Terminal deletion(4)(q33) in a male infant (1982) (16)
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia (2016) (16)
Cleft Lip and/or Palate: One Organization’s Experience With More Than a Quarter Million Surgeries During the Past Decade (2014) (15)
Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome (2013) (15)
Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects. (1996) (15)
A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development. (2005) (15)
Chromosomal localization1 of tumor protein, translationally-controlled 1 (TPT1) encoding the human histamine releasing factor (HRF) to13q12→q14 (1999) (15)
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. (1998) (15)
Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice (2019) (15)
Corneal tyrosine crystals in transient neonatal tyrosinemia. (1988) (15)
Sclerosteosis involving the temporal bone: clinical and radiologic aspects. (1983) (14)
Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites (1983) (14)
The effect of a Beare‐Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice (2012) (14)
Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family (2009) (14)
Characterization of reiterated human DNA with respect to mammalian X chromosome homology (1984) (13)
Treacher Collins Syndrome (2013) (13)
Mirror Movements Identified in Patients with Moebius Syndrome (2014) (13)
Choanal Atresia and Craniosynostosis: Development and Disease. (2018) (13)
Nonsyndromic Craniosynostosis: Novel Coding Variants (2019) (13)
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. (2015) (12)
BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development. (2015) (12)
Neonatal outcomes during the COVID-19 pandemic in New York City (2020) (11)
Excess maternal transmission of markers in TCOF1 among cleft palate case‐parent trios from three populations (2008) (11)
Genetics of craniofacial disorders. (1994) (11)
Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate (2011) (10)
Receptor Tyrosine Kinases Activate Canonical WNT/ b Catenin Signaling via MAP Kinase/LRP6 Pathway and Direct b -Catenin Phosphorylation (2012) (10)
Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder. (1993) (10)
Chromosomal localization of genes required for the terminal steps of oxidative metabolism: α and γ subunits of ATP synthase and the phosphate carrier (1994) (9)
ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population. (2012) (8)
Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier. (1994) (8)
Fibroblast Growth Factor Receptor-Related Skeletal Disorders (1998) (8)
Centromere separation and aneuploidy in human mitotic mutants: Roberts syndrome. (1989) (8)
Genotype–Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice (2020) (7)
Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5. (1992) (7)
CENTROMERIC ALPHA -SATELLITE DNA AT EUCHROMATIN/HETEROCHROMATIN BOUNDARY OF HUMAN CHROMOSOME 21 (1996) (7)
Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex (2020) (7)
C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model (2018) (7)
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy (2021) (6)
Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors (2007) (6)
Single-cell analysis identifies a key role for Hhip in murine coronal suture development (2021) (6)
Human rod cGMP-gated cation channel gene maps to 4p12-->centromere by chromosomal in situ hybridization. (1993) (6)
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 (2003) (6)
The Gene for Human Phosducin (PDC), a Soluble Protein That Binds G-Protein βγ Dimers, Maps to 1q25-q31.1 (1993) (6)
The IPP gene is assigned to human chromosome 1p32-1p22. (1993) (5)
Near-real-time data transmission during the ICE - Comet Giacobini-Zinner encounter (1986) (5)
The macromolecular organization of human centromeric regions. (1989) (5)
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon and Pfeiffer syndromes. (1999) (5)
Corrigendum: Jackson–Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 (1995) (4)
Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families (2012) (4)
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. (2020) (4)
Partial Structure and Mapping of the Human Myelin P2 Protein Gene (1994) (4)
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies (2021) (4)
New features of the McKusick-Kaufman syndrome. (1982) (4)
Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations. (1990) (4)
A genome wide screen of Crohn's disease in a large pedigree shows evidence for linkages to chromosomes 11, 16, 8 and 15 (1998) (4)
TWIST1 and the Saethre-Chotzen Syndrome (2016) (3)
Linkage analysis of genetic disorders. (1997) (3)
Physical mapping of the MEGF1 gene, human homologue of the Drosophila tumour suppressor gene fat, to the critical region of the 5q‐syndrome (2001) (3)
Tyrosine‐dependent basolateral targeting of human connexin43–eYFP in Madin–Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V (2009) (3)
Computational Morphogenesis of Embryonic Bone Development: Past, Present, and Future (2020) (3)
The CEPH consortium linkage map of human chromosome 13. (1993) (3)
Polymorphisms in the Human SNAIL (SNAI1) gene. (2001) (2)
Tissue-specific responses to aberrant FGF signaling in complex head phenotypes: Complex Head Phenotypes inFgfr2cC342Y/+Mice (2013) (2)
Abstract 213: TEN-YEAR EXPERIENCE OF 36,000 OROFACIAL CLEFTS IN AFRICA (2013) (2)
Aural atresia associated with multiple congenital anomalies and mental retardation: a new syndrome. (1987) (2)
[10]Isolating and mapping coding regions from complex genomes: Direct cDNA selection (1996) (2)
The gene for human phosducin (PDC), a soluble protein that binds G-protein beta gamma dimers, maps to 1q25-q31.1. (1993) (2)
A unique point mutation in the PMP22 gene is associated with Deafness, Charcot-Marie-Tooth and Anticipation (1999) (2)
Skeletal Stem Cells in Craniofacial Bone (2020) (2)
Sachi Prasad Ray-Chaudhuri (1987) (2)
Ocular Manifestations of Syndromes with Craniofacial Abnormalities (2012) (2)
Dear Old Dad Paternal age and the origin of spontaneous mutations in humans (2004) (2)
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a detect in the mitotic mechanism (1991) (2)
A FGFR2 mutation causing type 2 Pfeiffer syndrome (1998) (2)
Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes (2004) (1)
Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice (2014) (1)
Ocular anterior chamber dysgenesis in Craniostenosis syndromes with a fibroblast growth factor 2 mutation (1999) (1)
TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum (2022) (1)
HOXB 1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb 1 [ superscript / ] Mice (1)
Genetic Basis of Potential Therapeutic Strategies for (2010) (1)
Clinical Report Mosaicism of a TCOF1 Mutation in an Individual Clinically Unaffected With Treacher Collins Syndrome (2004) (1)
Table 1. [Summary Molecular Genetic Testing Used in Roberts Syndrome]. (2013) (1)
The Contribution of Angiogenesis to Variation in Bone Development and Evolution (2017) (1)
Brain morphometry driven by DTI data in Moebius Syndrome and Hereditary Congenital Facial Paresis (2016) (1)
A NHE3-related pseudogene is on human Chromosome 10; the functional gene maps to 5pl5.3 (1996) (1)
SAGE Analysis from 1 µg of Total RNA (2002) (1)
Erratum: Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype (American Journal of Medical Genetics (2001) 104 (277-281)) (2002) (1)
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay (2021) (1)
Chapter 144 – Craniosynostosis (2013) (1)
SHORT COMMUNICATION Human Dopamine Transporter Gene (DAT1) Maps to Chromosome 5pl 5.3 and Displays a VNTR (1992) (1)
Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis. (2019) (1)
A framework for the evaluation of patients with congenital facial weakness (2021) (1)
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion (2018) (0)
Reviewer Acknowledgment (2005) (0)
Synonyms: Roberts-SC Phocomelia Syndrome, Pseudothalidomide Syndrome, Roberts-SC (Pseudothalidomide), SC-Phocomelia Syndrome (2014) (0)
Cleft Palate in Apert Syndrome (2022) (0)
HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1[superscript −/−] Mice (2012) (0)
Early craniofacial bone growth and maturation of Fgfr2+/P253R mice and littermates (2013) (0)
Influence of angiogenesis on craniofacial bone morphology (2013) (0)
Individual craniofacial bone volumes and relative densities in postnatal mice provide valuable phenotypic information (2012) (0)
Comparison of Web based vs hospital based retrospective recruitment of participants for a craniosynostosis study (2002) (0)
Attitudes on pharmacogenomic results as secondary findings among medical geneticists (2022) (0)
Refinement of the Seathre-Chotzen syndrome locus between D7S664 and D7S507 which flank a translocation breakpoint in an affected individual (1994) (0)
Front & Back Matter (2013) (0)
Familial craniosynostosis , analanomalies, and porokeratosis: CAPsyndrome (1998) (0)
Inability to make facial expressions dampens emotion perception (2022) (0)
Editorial board acknowledgments (2018) (0)
Reconstructive Surgery in Times of Conflict (2016) (0)
Magnetic resonance microscopy and micro computed tomography of brain phenotypes of two FGFR2 mouse models for Apert syndrome. (2010) (0)
Isolation and analysis of novel candidate genes mapping to the critical region of the 5q-syndrome. (1999) (0)
Making a head: diverse craniofacial outcomes in disease (2012) (0)
Figure 1. [Individuals with TCS and a...]. (2012) (0)
ISOLATION OF NOVEL CDNA CLONES MAPPING TO THE CRITICAL REGION OF THE 5Q-CHROMOSOME IN THE 5Q-SYNDROME (1994) (0)
A novel Leu149Phe TWIST Mutation in Saethre-Chotzen Syndrome • 711 (1998) (0)
Reviewer Acknowledgment (2008) (0)
Ocular Motor Abnormalities and Congenital Facial Weakness (S47.005) (2013) (0)
Bent bone dysplasia syndrome defines a nuclear role for FGFR 2 in skeletal development (2013) (0)
Table 2. [Selected ESCO2 Allelic Variants]. (2013) (0)
ESCO2 and Roberts Syndrome (2016) (0)
Primary transcription map of the critical region of the 5q-syndrome. (1996) (0)
Figure 4. [Intrafamilial variationa. Pedigree of family...]. (2012) (0)
Figure 1. [C-banding of metaphase chromosomes. Arrows...]. (2013) (0)
Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study (2013) (0)
Compatibility Problems in Computer-To Communications - an Overview on Network Protocols (1988) (0)
Figure 3. [Three of the eight individuals...]. (2012) (0)
Reviewer Acknowledgment (2013) (0)
Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation (2001) (0)
Meckel’s Cartilage in Mandibular Development and Dysmorphogenesis (2022) (0)
Home Help Feedback Subscriptions Archive Search Table of Co (2008) (0)
Beyond the Closed Suture in Apert Syndrome Mouse Models: Evidence of Primary Effects of FGFR2 Signaling on Facial Shape at Birth (2011) (0)
Association Between IRF6 and Nonsyndromic Oral Clefts In 4 Populations (2006) (0)
Maternal periconceptional alcohol consumption and gastroschisis in the National Birth Defects Prevention Study, 1997-2011. (2022) (0)
Developmental Basis of Morphological Integration of Brain and Skull in Craniosynostosis (2007) (0)
Architecture of hierarchical multicomputer systems for satellite surveillance and data processing at ESA (1979) (0)
Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization. (1993) (0)
Roberts syndrome-SC phocomeliia: Clinical and molecular findings (2007) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Treacher Collins Syndrome]. (2012) (0)

This paper list is powered by the following services:

Other Resources About Ethylin Wang Jabs

en.wikipedia.org

What Schools Are Affiliated With Ethylin Wang Jabs?

Ethylin Wang Jabs is affiliated with the following schools:

Ethylin Wang Jabs's Academic­Influence.com Rankings