Non-Mendelian Birth Defects Research
Boyd Genetics Lab
Publications
- International team of researchers led by UC Davis receives $4 million NIH grant to study skull disorder in infants
- International team of investigators discovers likely basis of birth defect causing premature skull closure in infants
- Expert in Craniofacial birth defects joins UC Davis Children's Hospital
- UC Davis Children's Hospital researcher pinpoints genetic cause of craniofacial birth defect
- Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, Evangelista JE, Marino GB, Ma'ayan A, Sewda A, Holmes G, Britton SR, Lee WJ, Wu M, Ru Y, Arnaud E, Botto L, Brody LC, Byren JC, Caggana M, Carmichael SL, Cilliers D, Conway K, Crawford K, Cuellar A, Di Rocco F, Engel M, Fearon J, Feldkamp ML, Finnell R, Fisher S, Freudlsperger C, Garcia-Fructuoso G, Hagge R, Heuzé Y, Harshbarger RJ, Hobbs C, Howley M, Jenkins MM, Johnson D, Justice CM, Kane A, Kay D, Gosain AK, Langlois P, Legal-Mallet L, Lin AE, Mills JL, Morton JEV, Noons P, Olshan A, Persing J, Phipps JM, Redett R, Reefhuis J, Rizk E, Samson TD, Shaw GM, Sicko R, Smith N, Staffenberg D, Stoler J, Sweeney E, Taub PJ, Timberlake AT, Topczewska J, Wall SA, Wilson AF, Wilson LC, Boyadjiev SA, Wilkie AOM, Richtsmeier JT, Jabs EW, Romitti PA, Karasik D, Birnbaum RY, Peter I.Genet Med Open. 2024;2:101851. doi: 10.1016/j.gimo.2024.101851. Epub 2024 May 17.PMID: 39345948
- Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Musolf AM, Justice CM, Erdogan-Yildirim Z, Goovaerts S, Cuellar A, Shaffer JR, Marazita ML, Claes P, Weinberg SM, Li J, Senders C, Zwienenberg M, Simeonov E, Kaneva R, Roscioli T, Di Pietro L, Barba M, Lattanzi W, Cunningham ML, Romitti PA, Boyadjiev SA.Sci Rep. 2024 Apr 12;14(1):8533. doi: 10.1038/s41598-024-58343-w.PMID:
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.
Goovaerts S, Hoskens H, Eller RJ, Herrick N, Musolf AM, Justice CM, Yuan M, Naqvi S, Lee MK, Vandermeulen D, Szabo-Rogers HL, Romitti PA, Boyadjiev SA, Marazita ML, Shaffer JR, Shriver MD, Wysocka J, Walsh S, Weinberg SM, Claes P.Nat Commun. 2023 Nov 16;14(1):7436. doi: 10.1038/s41467-023-43237-8.PMID: 37973980 Free PMC article. Review.
- The genetic overlap between osteoporosis and craniosynostosis.
Kague E, Medina-Gomez C, Boyadjiev SA, Rivadeneira F.Front Endocrinol (Lausanne). 2022 Sep 26;13:1020821. doi: 10.3389/fendo.2022.1020821. eCollection 2022.PMID: 36225206 Free PMC article. Review.
- Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.
Justice CM, Musolf AM, Cuellar A, Lattanzi W, Simeonov E, Kaneva R, Paschall J, Cunningham M, Wilkie AOM, Wilson AF, Romitti PA, Boyadjiev SA.Genes (Basel). 2022 May 3;13(5):816. doi: 10.3390/genes13050816.PMID: 35627201
- Identification of differentially expressed proteins between fused and open sutures in sagittal nonsyndromic craniosynostosis during suture development by quantitative proteomic analysis.
Bala K, Cuellar A, Herren AW, Boyadjiev SA.Proteomics Clin Appl. 2021 May;15(2-3):e2000031. doi: 10.1002/prca.202000031. Epub 2021 Apr 16.PMID: 33580899
- SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM.Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5.PMID: 32499606
- Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.
Cuellar A, Bala K, Di Pietro L, Barba M, Yagnik G, Liu JL, Stevens C, Hur DJ, Ingersoll RG, Justice CM, Drissi H, Kim J, Lattanzi W, Boyadjiev SA.Bone. 2020 Aug;137:115395. doi: 10.1016/j.bone.2020.115395. Epub 2020 Apr 30.PMID: 32360898
- A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
- BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche
- A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element
- Genetic advances in craniosynostosis
- Muenke syndrome: An international multicenter natural history study
- Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes
- Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis
- MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis
- A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
- Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1
- ALX4 Gain-of-Function Mutations in Nonsyndromic Craniosynostosis
- Unilateral and Bilateral Expression of a Quantitative Trait: Asymmetry and Symmetry in Coronal Craniosynostosis
- Differential Growth Factor Adsorption to Calvarial Osteoblast-Secreted Extracellular Matrices Instructs Osteoblastic Behavior
- Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
- New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis
- Genetics of craniosynostosis
- Genetic analysis of non-syndromic craniosynostosis
- Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
- Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
- Brain morphology in nonsyndromic unicoronal craniosynostosis
- Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome
- Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome
- Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images
- SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
- Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.
- Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex.
Jelin AC, Sopko N, Sobreira N, Boyadjiev SA, Wohler E, Morrill C, Witmer PD, Michaud J, Valle D, Gearhart J, Dicarlo H.Front Genet. 2024 Jun 5;15:1266210. doi: 10.3389/fgene.2024.1266210. eCollection 2024.PMID: 38903756
- ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
- Candidate Gene Association Study Implicates p63 in the Etiology of Nonsyndromic Bladder-Exstrophy-Epispadias Complex
- Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder
- Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex
- Phenotype severity in the bladder extrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe
- Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region
- p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue
- Bladder exstrophy-epispadias complex
- Genome-wide linkage scan for bladder exstrophy-epispadias complex
- Epidemiological survey of 214 European families with Bladder Exstrophy-Epispadias Complex (BEEC)
- Concordance Analyses of Twins with Bladder Exstrophy-Epispadias Complex Suggest Genetic Etiology
- A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9
- Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families
- Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum.
Lu CL, Ortmeier S, Brudvig J, Moretti T, Cain J, Boyadjiev SA, Weimer JM, Kim J.Traffic. 2022 Jan;23(1):81-93. doi: 10.1111/tra.12826. Epub 2021 Nov 22.PMID: 34761479
- SEC23-SEC31 the Interface Plays Critical Role for Export of Procollagen from the Endoplasmic Reticulum
- Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
- Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
- The genetic basis of a craniofacial disease provides insight into COPII coat assembly
- Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal ER-to-Golgi trafficking
- A Novel Dysmorphic Syndrome with Open Calvarial Sutures and Sutural Cataracts Maps to Chromosome 14q13-q21
- Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.
Valayannopoulos V, Malinova V, Honzík T, Balwani M, Breen C, Deegan PB, Enns GM, Jones SA, Kane JP, Stock EO, Tripuraneni R, Eckert S, Schneider E, Hamilton G, Middleton MS, Sirlin C, Kessler B, Bourdon C, Boyadjiev SA, Sharma R, Twelves C, Whitley CB, Quinn AG.J Hepatol. 2014 Nov;61(5):1135-42. doi: 10.1016/j.jhep.2014.06.022. Epub 2014 Jun 30.PMID: 24993530
- Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial
- Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders
- 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
- Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
- Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23
- A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
- Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management
- Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene
- Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
- Genetic predisposition to natural rubber latex allergy differs between health care workers and high-risk patients
- A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome
- GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
- Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
- Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis
- Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease
- The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia
- Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
- TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
- OTX2 mutations contribute to the otocephaly-dysgnathia complex
- Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis
- Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation
- Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency
- Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene
- Identification of polymorphic markers flanking the human APRT gene
- High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination
- Germline and somatic mutation at the APRT locus of mice and man
- Analysis of in vivo somatic mutations at the APRT locus
- Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus
- Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.
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Contact the Lab
We are happy to collaborate and provide genetic expertise to clinicians and researchers interested in multifactorial human disorders.
We also invite interested individuals and families to learn more about our lab focus on the genetic and environmental factors contributing to the risk of birth defects and consider registering to support and participate in our research studies.
Boyd Genetics Lab
4625 2nd Avenue
Sacramento, CA 95817
