Details of Disease

Disease Name

Craniosynostosis

CSO; craniosynostosis syndrome; premature closure of cranial sutures

Definition

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.

Disease Hierarchy

DISYKSRF: Genetic disease

DISXGMZW: Synostosis

DIS6J405: Craniosynostosis

Disease Identifiers

MONDO ID

MONDO_0015469

MESH ID

D003398

UMLS CUI

C0010278

MedGen ID

1163

HPO ID

HP:0001363

Orphanet ID

1531

SNOMED CT ID

57219006

General Information of Disease (ID: DIS6J405)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 61 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP2	TTP3IGX	Limited	Biomarker	[1]
SMAD6	TTON5JB	Limited	Genetic Variation	[2]
CAMP	TTULOB6	moderate	Altered Expression	[3]
DEFB4A	TTIVY12	moderate	Biomarker	[4]
FGF4	TTCEKVZ	moderate	Genetic Variation	[5]
FGF8	TTIUF3J	moderate	Altered Expression	[6]
GPC3	TTJTSX4	moderate	Biomarker	[7]
IL19	TT87RWS	moderate	Biomarker	[8]
IL25	TTVMO5W	moderate	Biomarker	[9]
LRP5	TT7VMG4	moderate	Genetic Variation	[10]
LYZ	TTAOZBW	moderate	Altered Expression	[11]
OSM	TTIVXSE	moderate	Biomarker	[12]
S100A12	TTQ4ESF	moderate	Biomarker	[13]
S100A8	TT4AF6N	moderate	Biomarker	[14]
SLC26A4	TT7X02I	moderate	Biomarker	[15]
ALOX5AP	TTDMBF5	Strong	Biomarker	[16]
ANK1	TTKFPMH	Strong	Biomarker	[17]
AOAH	TT2EJXQ	Strong	Genetic Variation	[18]
ATP4A	TTF1QVM	Strong	Biomarker	[19]
ATR	TT8ZYBQ	Strong	Altered Expression	[20]
CASR	TTBUYHA	Strong	Biomarker	[21]
CD52	TTQT5S9	Strong	Altered Expression	[22]
CRLF2	TTRMZ0N	Strong	Altered Expression	[23]
CYP11B1	TTIQUX7	Strong	Altered Expression	[24]
CYP26A1	TTD7Q0R	Strong	Genetic Variation	[25]
CYSLTR1	TTGKOY9	Strong	Biomarker	[16]
DDX5	TTZKPVC	Strong	Biomarker	[26]
DSG3	TTEO4P8	Strong	Altered Expression	[27]
FES	TTLBY21	Strong	Biomarker	[28]
FGF14	TTKJX1V	Strong	Altered Expression	[29]
FGFBP1	TTV1YFT	Strong	Altered Expression	[30]
FLNA	TTSTRZY	Strong	Genetic Variation	[31]
GJB6	TTAU8SJ	Strong	Biomarker	[32]
GRK5	TTTCXO0	Strong	Biomarker	[29]
IL11RA	TTZPLJS	Strong	Genetic Variation	[33]
IL13	TT0GVCH	Strong	Biomarker	[34]
IL1RL2	TTUS18T	Strong	Altered Expression	[35]
IL5	TTPREZD	Strong	Biomarker	[36]
IRAK4	TTILUKB	Strong	Genetic Variation	[37]
KAT6A	TT6O1J0	Strong	CausalMutation	[38]
KCNQ5	TTWVL5Q	Strong	Genetic Variation	[39]
KLK6	TTLPF4X	Strong	Biomarker	[29]
MUC5AC	TTEL90S	Strong	Biomarker	[8]
NELL1	TT7H4BF	Strong	Altered Expression	[40]
NPPC	TTRK0B9	Strong	Biomarker	[41]
NR1I3	TTRANFM	Strong	Biomarker	[21]
PGA5	TTKZ864	Strong	Biomarker	[42]
POR	TTOQ9GZ	Strong	Biomarker	[43]
POSTN	TT8ALTZ	Strong	Biomarker	[15]
PRKAR1A	TTNAHEX	Strong	Biomarker	[21]
PTGDR2	TTQDMX5	Strong	Biomarker	[44]
PTH2R	TTEPJL5	Strong	Genetic Variation	[45]
RUNX2	TTD6SZ8	Strong	Genetic Variation	[46]
SCN4A	TT84DRB	Strong	Genetic Variation	[47]
SMO	TT8J1S3	Strong	Biomarker	[48]
SPRY1	TT0PSN6	Strong	Biomarker	[49]
TLR9	TTSHG0T	Strong	Altered Expression	[50]
TNFRSF17	TTZ3P4W	Strong	Biomarker	[51]
TNFSF11	TT9E8HR	Strong	Biomarker	[52]
TRPA1	TTELV3W	Strong	Biomarker	[17]
EZH2	TT9MZCQ	Definitive	Biomarker	[53]
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⏷ Show the Full List of 61 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP12A	DT5NLZA	Strong	Biomarker	[19]
SLC25A24	DTVAEDK	Strong	Genetic Variation	[54]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PTGDS	DER3H9C	moderate	Altered Expression	[55]
CYP26B1	DEZT8FM	Strong	Genetic Variation	[56]
------------------------------------------------------------------------------------

This Disease Is Related to 94 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AXIN2	OTRMGQNU	Limited	Autosomal dominant	[57]
EFNB1	OT7JJW8P	Limited	Genetic Variation	[58]
MN1	OTVQR4R9	Limited	Biomarker	[59]
TCF12	OTZVONNU	Limited	Biomarker	[60]
ALX4	OTNS9A29	moderate	Biomarker	[61]
CLC	OTYMYR85	moderate	Biomarker	[62]
EFNA4	OTITKZQH	moderate	Genetic Variation	[63]
FGF9	OT2SKDGM	moderate	Genetic Variation	[64]
IFIH1	OTZA2AHA	moderate	Biomarker	[4]
LAMB1	OT6J9LJR	moderate	Genetic Variation	[65]
MUC5B	OTPW6K5C	moderate	Altered Expression	[66]
NOG	OTGRHHPG	moderate	Biomarker	[67]
RECQL4	OT59LSW7	moderate	Altered Expression	[68]
S100A7	OTJFVJRF	moderate	Altered Expression	[13]
SHOC2	OTUNQ2CT	moderate	Genetic Variation	[69]
SPINK5	OT61IIAO	moderate	Altered Expression	[70]
ACSL3	OT3MWER1	Strong	Genetic Variation	[71]
ADAMDEC1	OTMT7ZMG	Strong	Altered Expression	[72]
AHDC1	OTQ1VL2W	Strong	Genetic Variation	[73]
ALX1	OTZVARA5	Strong	Biomarker	[61]
ALX3	OTXZ25PZ	Strong	Biomarker	[61]
ANXA7	OTLMD0TK	Strong	Biomarker	[74]
ARR3	OTRZ00CH	Strong	Biomarker	[21]
B3GAT3	OTDSN5XF	Strong	Genetic Variation	[75]
BBS9	OT23V9YF	Strong	Biomarker	[76]
BCL11B	OT8KKCVJ	Strong	Genetic Variation	[77]
BCL2L12	OTS6IFZY	Strong	Biomarker	[78]
BPIFA1	OTQFD2J5	Strong	Biomarker	[79]
CARTPT	OTTE4V9S	Strong	Biomarker	[80]
CCL25	OTLWJ8CJ	Strong	Altered Expression	[81]
CCL26	OT2B7HR9	Strong	Altered Expression	[82]
CD180	OTITK5E6	Strong	Altered Expression	[83]
CD8A	OTDWQJXK	Strong	Biomarker	[84]
CDC45	OT6NNLOD	Strong	Biomarker	[85]
COL17A1	OTID5AH2	Strong	Biomarker	[86]
CST1	OTE4I83Q	Strong	Biomarker	[87]
CST8	OTT2FRCJ	Strong	Biomarker	[88]
CST9	OT37U1C8	Strong	Genetic Variation	[65]
CSTA	OT1K68KE	Strong	Altered Expression	[70]
CXADR	OT9ZP02A	Strong	Biomarker	[21]
CXCL6	OTFTCQ4O	Strong	Biomarker	[89]
DLX5	OTEEFBEU	Strong	Biomarker	[90]
DNAH5	OTC21RUS	Strong	Genetic Variation	[91]
DUSP4	OT6WAO12	Strong	Biomarker	[92]
FBN1	OTYCJT63	Strong	Genetic Variation	[93]
FGFRL1	OT8HZ3ZL	Strong	Genetic Variation	[94]
FNDC3B	OTBILGDR	Strong	Biomarker	[95]
GATAD2B	OTJL128N	Strong	Biomarker	[26]
GFM1	OTUN4V3N	Strong	Biomarker	[96]
GPC1	OTQKRSSV	Strong	Biomarker	[97]
IFT122	OTSK3OAD	Strong	Biomarker	[98]
IHH	OT1DWGXC	Strong	Biomarker	[99]
IL9R	OTILCLXA	Strong	Altered Expression	[100]
ITGA3	OTBCH21D	Strong	Altered Expression	[30]
LMX1B	OTM8145D	Strong	Genetic Variation	[101]
LRPAP1	OT6DVD2Q	Strong	Biomarker	[102]
MED13L	OTSP1W0F	Strong	Genetic Variation	[103]
MUC7	OTSTMP0X	Strong	Altered Expression	[104]
MXD3	OT4U88UP	Strong	Altered Expression	[105]
NUDT6	OTCS3NYZ	Strong	Biomarker	[49]
OMP	OT7JH0DY	Strong	Biomarker	[106]
PARS2	OTMBBH7K	Strong	Genetic Variation	[107]
PCDH1	OT7KDEL3	Strong	Altered Expression	[108]
PGA3	OT8EHCKQ	Strong	Biomarker	[42]
PGA4	OTKDMPMN	Strong	Biomarker	[42]
PHEX	OTG7N3J7	Strong	Genetic Variation	[109]
PLA2G10	OTRZ2L5A	Strong	Altered Expression	[110]
PLA2G2D	OTU604XM	Strong	Altered Expression	[110]
POLD3	OTEQEFQ2	Strong	Biomarker	[26]
PPP1R9B	OTDCTHTT	Strong	Biomarker	[111]
PRG2	OT0BCPQG	Strong	Altered Expression	[112]
PRKRA	OTUTVZZU	Strong	Altered Expression	[113]
PRRX1	OTTZK5G8	Strong	Genetic Variation	[68]
RAB14	OTF1J0TB	Strong	Genetic Variation	[114]
RASD1	OT2BAJHK	Strong	Biomarker	[114]
RCAN1	OT1MVXC7	Strong	Biomarker	[115]
RSPRY1	OT9MVWO0	Strong	Biomarker	[116]
SCARA3	OT46I38Y	Strong	Genetic Variation	[117]
SCGB3A2	OTB63PHR	Strong	Biomarker	[118]
SFTPA1	OT87XL1U	Strong	Biomarker	[119]
SFTPA2	OT6SFOMU	Strong	Genetic Variation	[119]
SFTPB	OTOHS07E	Strong	Altered Expression	[120]
SIPA1	OTXY5RXC	Strong	Biomarker	[119]
SMC1A	OT9ZMRK9	Strong	Genetic Variation	[121]
SPG7	OT8OY9ST	Strong	Biomarker	[21]
SPRR1B	OTXNW3P6	Strong	Biomarker	[122]
SPRR2A	OT62ZU6B	Strong	Altered Expression	[122]
TAPBP	OTL81AVZ	Strong	Biomarker	[84]
TAS2R13	OTSTOX5G	Strong	Genetic Variation	[123]
TAS2R20	OT0F5B8C	Strong	Genetic Variation	[123]
TAS2R38	OTX5MM36	Strong	Biomarker	[124]
TFG	OT2KJENI	Strong	Altered Expression	[105]
TINAGL1	OTZZO56M	Strong	Biomarker	[125]
TRIM13	OTQIUACB	Strong	Biomarker	[21]
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⏷ Show the Full List of 94 DOT(s)

References

1	Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.Eur J Hum Genet. 2019 Jul;27(7):1044-1053. doi: 10.1038/s41431-019-0363-z. Epub 2019 Feb 22.
2	SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis.Plast Reconstr Surg. 2020 Jan;145(1):117e-125e. doi: 10.1097/PRS.0000000000006319.
3	LL-37 causes cell death of human nasal epithelial cells, which is inhibited with a synthetic glycosaminoglycan.PLoS One. 2017 Aug 24;12(8):e0183542. doi: 10.1371/journal.pone.0183542. eCollection 2017.
4	Expression of Innate Immunity Genes in Epithelial Cells of Hypertrophic Adenoids with and without Pediatric Chronic Rhinosinusitis: A Preliminary Report.Chin Med J (Engl). 2015 Nov 5;128(21):2913-8. doi: 10.4103/0366-6999.168056.
5	Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.Gene. 2014 Jan 25;534(2):435-9. doi: 10.1016/j.gene.2013.09.120. Epub 2013 Oct 8.
6	Fgf8 haploinsufficiency results in distinct craniofacial defects in adult zebrafish.Dev Biol. 2007 Jun 15;306(2):505-15. doi: 10.1016/j.ydbio.2007.03.025. Epub 2007 Mar 24.
7	Titania nanotube-based protein delivery system to inhibit cranial bone regeneration in Crouzon model of craniosynostosis.Int J Nanomedicine. 2019 Aug 6;14:6313-6324. doi: 10.2147/IJN.S202090. eCollection 2019.
8	IL-19 Up-Regulates Mucin 5AC Production in Patients With Chronic Rhinosinusitis via STAT3 Pathway.Front Immunol. 2019 Jul 17;10:1682. doi: 10.3389/fimmu.2019.01682. eCollection 2019.
9	Impact of chronic rhinosinusitis on severe asthma patients.PLoS One. 2017 Feb 15;12(2):e0171047. doi: 10.1371/journal.pone.0171047. eCollection 2017.
10	An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation. J Bone Miner Res. 2005 Jul;20(7):1254-60. doi: 10.1359/JBMR.050303. Epub 2005 Mar 7.
11	Enhanced expressions of lysozyme, SLPI and glycoprotein 340 in biofilm-associated chronic rhinosinusitis.Eur Arch Otorhinolaryngol. 2014 Jun;271(6):1563-71. doi: 10.1007/s00405-013-2758-8.
12	Neutrophils are a major source of the epithelial barrier disrupting cytokine oncostatin M in patients with mucosal airways disease.J Allergy Clin Immunol. 2017 Jun;139(6):1966-1978.e9. doi: 10.1016/j.jaci.2016.10.039. Epub 2016 Dec 18.
13	Differential expression and role of S100 proteins in chronic rhinosinusitis.Curr Opin Allergy Clin Immunol. 2020 Feb;20(1):14-22. doi: 10.1097/ACI.0000000000000595.
14	Epithelial physical barrier defects in chronic rhinosinusitis.Expert Rev Clin Immunol. 2019 Jun;15(6):679-688. doi: 10.1080/1744666X.2019.1601556. Epub 2019 Apr 9.
15	Nitric Oxide and Biological Mediators in Pediatric Chronic Rhinosinusitis and Asthma.J Clin Med. 2019 Oct 25;8(11):1783. doi: 10.3390/jcm8111783.
16	Influence of leukotriene gene polymorphisms on chronic rhinosinusitis.BMC Med Genet. 2008 Mar 26;9:21. doi: 10.1186/1471-2350-9-21.
17	Upregulation of extraneuronal TRPV1 expression in chronic rhinosinusitis with nasal polyps.Rhinology. 2018 Sep 1;56(3):245-254. doi: 10.4193/Rhin17.108.
18	Genetics of rhinosinusitis.Curr Allergy Asthma Rep. 2011 Jun;11(3):236-46. doi: 10.1007/s11882-011-0189-4.
19	Eight weeks of omeprazole 20 mg significantly reduces both laryngopharyngeal reflux and comorbid chronic rhinosinusitis signs and symptoms: Randomised, double-blind, placebo-controlled trial.Clin Otolaryngol. 2018 Apr;43(2):496-501. doi: 10.1111/coa.13005. Epub 2017 Oct 23.
20	Qiliqiangxin Protects against Renal Injury in Rat with Cardiorenal Syndrome Type I through Regulating the Inflammatory and Oxidative Stress Signaling.Biol Pharm Bull. 2018;41(8):1178-1185. doi: 10.1248/bpb.b17-00930.
21	Granulocyte-macrophage colony-stimulating factor inactivation in CAR T-cells prevents monocyte-dependent release of key cytokine release syndrome mediators.J Biol Chem. 2019 Apr 5;294(14):5430-5437. doi: 10.1074/jbc.AC119.007558. Epub 2019 Feb 25.
22	FcRIIIa-dependent IFN- release in whole blood assay is predictive of therapeutic IgG1 antibodies safety.MAbs. 2018 Aug/Sep;10(6):913-921. doi: 10.1080/19420862.2018.1474996. Epub 2018 Jul 26.
23	The expression of TSLP receptor in chronic rhinosinusitis with and without nasal polyps.Int J Immunopathol Pharmacol. 2011 Jul-Sep;24(3):761-8. doi: 10.1177/039463201102400322.
24	Expression of 11-hydroxysteroid dehydrogenase 1 and 2 in patients with chronic rhinosinusitis and their possible contribution to local glucocorticoid activation in sinus mucosa.J Allergy Clin Immunol. 2014 Oct;134(4):926-934.e6. doi: 10.1016/j.jaci.2014.03.033. Epub 2014 May 5.
25	Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet. 2011 Nov 11;89(5):595-606. doi: 10.1016/j.ajhg.2011.09.015. Epub 2011 Oct 20.
26	Long-Term Safety of Topical Bacteriophage Application to the Frontal Sinus Region.Front Cell Infect Microbiol. 2017 Feb 24;7:49. doi: 10.3389/fcimb.2017.00049. eCollection 2017.
27	Desmoglein 3 Silencing Inhibits Inflammation and Goblet Cell Mucin Secretion in a Mouse Model of Chronic Rhinosinusitis via Disruption of the Wnt/-Catenin Signaling Pathway.Inflammation. 2019 Aug;42(4):1370-1382. doi: 10.1007/s10753-019-00998-z.
28	Efficacy and Safety of 3 Nasal Packing Materials Used After Functional Endoscopic Sinus Surgery for Chronic Rhinosinusitis: A Comparative Study in China.Med Sci Monit. 2017 Apr 25;23:1992-1998. doi: 10.12659/msm.899553.
29	Role of long purine stretches in controlling the expression of genes associated with neurological disorders.Gene. 2015 Nov 10;572(2):175-83. doi: 10.1016/j.gene.2015.07.007. Epub 2015 Jul 3.
30	Genetic associations and phenotypic heterogeneity in the craniosynostotic rabbit.PLoS One. 2018 Sep 20;13(9):e0204086. doi: 10.1371/journal.pone.0204086. eCollection 2018.
31	Association of mutations in FLNA with craniosynostosis.Eur J Hum Genet. 2015 Dec;23(12):1684-8. doi: 10.1038/ejhg.2015.31. Epub 2015 Apr 15.
32	Connexin gap junction channels and chronic rhinosinusitis.Int Forum Allergy Rhinol. 2016 Jun;6(6):611-7. doi: 10.1002/alr.21717. Epub 2016 Feb 25.
33	Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.Am J Med Genet A. 2019 Apr;179(4):668-673. doi: 10.1002/ajmg.a.61070. Epub 2019 Feb 27.
34	Significance of IgG4-positive cells in severe eosinophilic chronic rhinosinusitis.Allergol Int. 2019 Apr;68(2):216-224. doi: 10.1016/j.alit.2018.09.002. Epub 2018 Oct 11.
35	The activation and function of IL-36 in neutrophilic inflammation in chronic rhinosinusitis.J Allergy Clin Immunol. 2018 May;141(5):1646-1658. doi: 10.1016/j.jaci.2017.12.972. Epub 2017 Dec 21.
36	Endotype-driven precision medicine in chronic rhinosinusitis.Expert Rev Clin Immunol. 2019 Nov;15(11):1171-1183. doi: 10.1080/1744666X.2020.1679626. Epub 2019 Oct 22.
37	Polymorphisms in interleukin-1 receptor-associated kinase 4 are associated with total serum IgE.Allergy. 2009 May;64(5):746-53. doi: 10.1111/j.1398-9995.2008.01889.x. Epub 2009 Feb 27.
38	Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26.
39	Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population.PLoS One. 2014 Mar 3;9(3):e89329. doi: 10.1371/journal.pone.0089329. eCollection 2014.
40	Cumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus.Cell Death Differ. 2020 Apr;27(4):1415-1430. doi: 10.1038/s41418-019-0427-1. Epub 2019 Oct 3.
41	C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.PLoS One. 2018 Jul 26;13(7):e0201492. doi: 10.1371/journal.pone.0201492. eCollection 2018.
42	Effects of pepsin A on heat shock protein 70 response in laryngopharyngeal reflux patients with chronic rhinosinusitis.Acta Otolaryngol. 2017 Dec;137(12):1253-1259. doi: 10.1080/00016489.2017.1360515. Epub 2017 Aug 8.
43	Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.J Appl Genet. 2018 May;59(2):133-147. doi: 10.1007/s13353-017-0423-4. Epub 2018 Feb 1.
44	Expression and characterization of PGD2 receptors in chronic rhinosinusitis: modulation of DP and CRTH2 by PGD2.Int Arch Allergy Immunol. 2009;148(2):127-36. doi: 10.1159/000155743. Epub 2008 Sep 19.
45	Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.J Med Genet. 2015 Oct;52(10):706-9. doi: 10.1136/jmedgenet-2015-103001. Epub 2015 Jun 4.
46	Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.PLoS One. 2019 Aug 23;14(8):e0221402. doi: 10.1371/journal.pone.0221402. eCollection 2019.
47	Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.Neuromuscul Disord. 2017 Jun;27(6):574-580. doi: 10.1016/j.nmd.2017.02.001. Epub 2017 Feb 8.
48	Clinical genetics of craniosynostosis.Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542.
49	Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion.Childs Nerv Syst. 2014 Dec;30(12):2157-61. doi: 10.1007/s00381-014-2474-8. Epub 2014 Jul 1.
50	Role of Toll-like receptor 9 signaling on activation of nasal polyp-derived fibroblasts and its association with nasal polypogenesis.Int Forum Allergy Rhinol. 2018 Sep;8(9):1001-1012. doi: 10.1002/alr.22155. Epub 2018 Jun 14.
51	Exploratory trial of a biepitopic CAR T-targeting B cell maturation antigen in relapsed/refractory multiple myeloma.Proc Natl Acad Sci U S A. 2019 May 7;116(19):9543-9551. doi: 10.1073/pnas.1819745116. Epub 2019 Apr 15.
52	Receptor activator of nuclear factor B ligand is a biomarker for osteitis of chronic rhinosinusitis.Int Forum Allergy Rhinol. 2020 Mar;10(3):364-373. doi: 10.1002/alr.22481. Epub 2019 Nov 6.
53	Epigenetic control of skeletal development by the histone methyltransferase Ezh2. J Biol Chem. 2015 Nov 13;290(46):27604-17.
54	De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.
55	Natural killer cells regulate eosinophilic inflammation in chronic rhinosinusitis.Sci Rep. 2016 Jun 8;6:27615. doi: 10.1038/srep27615.
56	Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.Horm Metab Res. 2016 Nov;48(11):737-744. doi: 10.1055/s-0042-114038. Epub 2016 Sep 2.
57	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
58	Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.Cleft Palate Craniofac J. 2018 Sep;55(8):1092-1102. doi: 10.1177/1055665618760412. Epub 2018 Mar 21.
59	Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.Mol Cell Biol. 2005 May;25(10):4229-36. doi: 10.1128/MCB.25.10.4229-4236.2005.
60	Deviating dental arch morphology in mild coronal craniosynostosis syndromes.Clin Oral Investig. 2019 Jul;23(7):2995-3003. doi: 10.1007/s00784-018-2710-9. Epub 2018 Nov 3.
61	Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.Am J Med Genet A. 2014 Feb;164A(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13.
62	Associations Between Inflammatory Endotypes and Clinical Presentations in Chronic Rhinosinusitis.J Allergy Clin Immunol Pract. 2019 Nov-Dec;7(8):2812-2820.e3. doi: 10.1016/j.jaip.2019.05.009. Epub 2019 May 22.
63	Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.Cleft Palate Craniofac J. 2018 Aug;55(7):1020-1025. doi: 10.1597/16-135. Epub 2018 Feb 22.
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