Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

Authors: Oliver, KL, Author, Ellis, CA, Author, Scheffer, IE, Author, Ganesan, S, Author, Leu, C, Author, Sadleir, LG, Author, Heinzen, EL, Author, Mefford, HC, Author, Bass, AJ, Author, Curtis, SW, Author

Contributors: Oliver, KL, Author, Ellis, CA, Author, Scheffer, IE, Author, Ganesan, S, Author, Leu, C, Author, Sadleir, LG, Author, Heinzen, EL, Author, Mefford, HC, Author, Bass, AJ, Author, Curtis, SW, Author

Source: EBIOMEDICINE. 81:104079-104079

Access URL: https://ki.se/en/research/search-research-information?t=2&query=id%3A836584

Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families

Authors: Oliver, KL, Scheffer, IE, Ellis, CA, Grinton, BE, Afawi, Z, Amrom, D, Andermann, E, Bautista, JF, Bellows, ST, Bluvstein, J, Cascino, GD, Chung, SK, Cossette, P, Curtis, SW, Delanty, N, Devinsky, O, Dlugos, D, Epstein, MP, Freyer, C, Gravel, M, Harris, RV, Heinzen, EL, Henry, OJ, Kirsch, HE, Knowlton, RC, Kossoff, EH, Loeb, R, Lowenstein, DH, Marson, AG, Mefford, HC, Motika, PV, O'Brien, TJ, Ottman, R, Paolicchi, JM, Petrovski, S, Pickrell, WO, Rees, MI, Sadleir, LG, Shih, JJ, Singh, RK, Smith, MC, Smith, PEM, Thomas, RH, Weisenberg, J, Widdess-Walsh, P, Winawer, MR, Berkovic, SF, Bahlo, M

Relation: NHMRC/1091593; NHMRC/1172897; NHMRC/1196637; NHMRC/2010562; Oliver, K. L., Scheffer, I. E., Ellis, C. A., Grinton, B. E., Afawi, Z., Amrom, D., Andermann, E., Bautista, J. F., Bellows, S. T., Bluvstein, J., Cascino, G. D., Chung, S. K., Cossette, P., Curtis, S. W., Delanty, N., Devinsky, O., Dlugos, D., Epstein, M. P., Freyer, C. ,. Bahlo, M. (2024). Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families. Ebiomedicine, 109, https://doi.org/10.1016/j.ebiom.2024.105404.; https://hdl.handle.net/11343/359146

Availability: https://hdl.handle.net/11343/359146

Anti-estrogen activity in the yeast transcription system: Estrogen receptor mediated agonist response

Authors: Kohno H, GANDINI, Orietta, Curtis SW, Korach KS

Source: Steroids. 59:572-578

Subject Terms: Transcriptional Activation, 0301 basic medicine, 0303 health sciences, Estradiol, Transcription, Genetic, Polyunsaturated Alkamides, Estrogen Antagonists, DNA, Tritium, beta-Galactosidase, Mice, 03 medical and health sciences, Receptors, Estrogen, Yeasts, Animals, Humans, Promoter Regions, Genetic

Access URL: https://pubmed.ncbi.nlm.nih.gov/7878684
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=A1994PL63700002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
https://doi.org/10.1016/0039-128X(94)90050-7
https://hdl.handle.net/11573/412813

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

Authors: Oliver, KL, Ellis, CA, Scheffer, IE, Ganesan, S, Leu, C, Sadleir, LG, Heinzen, EL, Mefford, HC, Bass, AJ, Curtis, SW, Harris, RV, Whiteman, DC, Helbig, I, Ottman, R, Epstein, MP, Bahlo, M, Berkovic, SF

Index Terms: Journal Article

URL: https://hdl.handle.net/11343/316300
NHMRC/1006110
NHMRC/1091593
NHMRC/1172897

Is Green the New Red? Marxism, Ecology, and Contemporary Architectural Theory

Authors: Curtis Swope

Source: Humanities, Vol 10, Iss 1, p 45 (2021)

Subject Terms: contemporary architecture, ecology, Marxism, Sauerbruch Hutton, Teddy Cruz, Frankfurt School, History of scholarship and learning. The humanities, AZ20-999

File Description: electronic resource

Relation: https://www.mdpi.com/2076-0787/10/1/45; https://doaj.org/toc/2076-0787

Access URL: https://doaj.org/article/1d606bce6e3e4ee0b195410cf50d490b

Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.

Authors: Herrick N; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: noah.herrick@pitt.edu., Erdogan-Yildirim Z; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Lee MK; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Berke S; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA., Brewer GC; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., McHenry T; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., El Sergani AM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Mukhopadhyay N; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Carlson JC; Department of Biostatistics and Health Data Science, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA., Beaty T; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Butali A; Department of Oral Pathology, Radiology, & Medicine, College of Dentistry, University of Iowa, Iowa City, IA, USA., Buxo-Martinez CJ; Dental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico, USA., Hecht JT; Department of Pediatrics and Pediatric Research Center, McGovern Medical School University of Texas Health, Houston, TX, USA., Liao EC; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Craniofacial Innovation, Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Moreno Uribe LM; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA, USA., Padilla CD; Department of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines., Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA., Feingold E; Department of Statistics, College of Science, Oregon State University, Corvallis, OR, USA., Murray JC; Department of Pediatrics, School of Medicine, University of Iowa, Iowa City, IA, USA., Ruczinski I; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Weinberg SM; Department of Biomedical Sciences, Adams School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Shaffer JR; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: marazita@pitt.edu.

Source: HGG advances [HGG Adv] 2026 Oct 08; Vol. 7 (4), pp. 100672. Date of Electronic Publication: 2026 Sep 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

MeSH Terms: Cleft Lip*/genetics , Genome-Wide Association Study* , Genetic Predisposition to Disease* , Genetic Loci*, Cleft Palate/genetics ; Interferon Regulatory Factors/genetics ; MafB Transcription Factor/genetics ; Humans ; Polymorphism, Single Nucleotide ; Phenotype

A study of sex-specific genetic effects underlying risk of orofacial clefts also highlights the potential impact of sequencing errors due to short read mis-mapping.

Authors: Kanchan K; Genomics and Precision Health Section, Laboratory of Allergic Diseases, The National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA., Erdogan-Yildirim Z; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Berke S; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA., Mukhopadhyay N; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Ray D; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Simpson CL; Department of Genetics, Genomics, and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Bidinger JA; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Curtis SW; Department of Human Genetics, Emory University, Atlanta, GA, USA., Butali A; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Schwender H; Mathematisches Institut, Heinrich-Heine-Universität, Düsseldorf, Germany., Scott AF; Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Bailey-Wilson JE; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Beaty TH; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Leslie-Clarkson E; Department of Human Genetics, Emory University, Atlanta, GA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Ruczinski I; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jul 09. Date of Electronic Publication: 2026 Jul 09.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease.

Authors: Kurtas NE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Sanchis-Juan A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Shin E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Robinson KR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Lee AS; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Alade AA; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA., Zhao X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Diaz Perez KK; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Gowans LJJ; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Eshete MA; Department of Surgery, School of Medicine, Addis Ababa University, Addis Ababa, Ethiopia., Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos/Lagos University Teaching Hospital, Lagos, Nigeria., Buxó CJ; Dental and Craniofacial Genomics Core, University of Puerto Rico School of Dental Medicine, San Juan, Puerto Rico, USA., Padilla CD; Department of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines., Poletta FA; CEMIC-CONICET: Center for Medical Education and Clinical Research, Buenos Aires, Argentina., Torres AC; European Genome-Phenome Archive at the Center for Genomic Regulation, Barcelona, Spain., Wehby GL; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA., Hecht JT; McGovern Medical School University of Texas Health Houston, Houston, TX, USA., Moreno Uribe LM; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA, USA., Mukhopadhyay N; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Shaffer JR; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Weinberg SM; Department of Biomedical Sciences, Adams School of Dentistry, University of North Carolina, Chapel Hill, NC, USA., Murray JC; Department of Pediatrics, School of Medicine, University of Iowa, Iowa City, IA, USA., Beaty TH; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Butali A; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA., Talkowski M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 24. Date of Electronic Publication: 2026 May 24.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip.

Authors: Herrick N; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Erdogan-Yildirim Z; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Lee MK; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Berke S; Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA., Brewer G; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., McHenry T; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., El Sergani AM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Mukhopadhyay N; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA., Carlson JC; Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA., Beaty T; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Butali A; Department of Oral Pathology, Radiology, & Medicine, College of Dentistry, University of Iowa, Iowa City, IA, USA., Buxo-Martinez CJ; School of Dental Medicine, University of Puerto Rico, San Juan, USA., Hecht JT; Department of Pediatrics and Pediatric Research Center, University of Texas Medical School, Houston, TX, USA., Liao E; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.; Center for Craniofacial Innovation, Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Moreno Uribe LM; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA, USA., Padilla CD; Department of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines., Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA., Feingold E; Department of Statistics, College of Science, Oregon State University, Corvallis, OR, USA., Murray JC; Department of Pediatrics, School of Medicine, University of Iowa, Iowa City, IA, USA., Ruczinski I; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Weinberg SM; Department of Biomedical Sciences, Adams School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Shaffer JR; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 17. Date of Electronic Publication: 2026 Mar 17.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Gene expression dynamics of human and mouse craniofacial development at the single-cell level.

Authors: Khouri-Farah N; Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, USA., Manchel A; Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wentworth Winchester E; Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, USA., Schilder BM; Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK.; UK Dementia Research Institute at Imperial College London, London, UK., Robinson K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Skene NG; Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK.; UK Dementia Research Institute at Imperial College London, London, UK., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Cotney J; Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA. cotneyj@chop.edu.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. cotneyj@chop.edu.

Source: Nature communications [Nat Commun] 2026 Mar 09; Vol. 17 (1). Date of Electronic Publication: 2026 Mar 09.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

MeSH Terms: Skull*/embryology , Skull*/metabolism , Gene Expression Regulation, Developmental*, Neural Crest/metabolism ; Neural Crest/embryology ; Neural Crest/cytology ; Cleft Palate/genetics ; Cleft Lip/genetics ; Mesoderm/metabolism ; Mesoderm/embryology ; Ectoderm/metabolism ; Ectoderm/embryology ; Animals ; Humans ; Mice ; Single-Cell Gene Expression Analysis ; Single-Cell Analysis ; Spatial Transcriptomics

Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion.

Authors: Teng CS; Department of Cell and Tissue Biology, University of California San Francisco, San Francisco, CA, USA.; Program in Craniofacial Biology, University of California San Francisco , San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco , San Francisco, CA, USA.; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California San Francisco , San Francisco, CA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Brewer GC; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Bush JO; Department of Cell and Tissue Biology, University of California San Francisco, San Francisco, CA, USA.; Program in Craniofacial Biology, University of California San Francisco , San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco , San Francisco, CA, USA.; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California San Francisco , San Francisco, CA, USA.

Source: The Journal of cell biology [J Cell Biol] 2026 Jan 05; Vol. 225 (1). Date of Electronic Publication: 2025 Nov 13.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

MeSH Terms: Cadherins*/metabolism , Cadherins*/genetics , Actomyosin*/metabolism , Actomyosin*/genetics , Cleft Lip*/genetics , Cleft Lip*/metabolism , Cleft Lip*/pathology , Cell Adhesion*, Catenins/metabolism ; Catenins/genetics ; Actins/metabolism ; rhoA GTP-Binding Protein/metabolism ; rhoA GTP-Binding Protein/genetics ; Animals ; Humans ; Mice ; Delta Catenin ; Morphogenesis

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Authors: Curtis SW; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301 Atlanta, GA 30322, United States., Yang C; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301 Atlanta, GA 30322, United States., Sanchis-Juan A; Center for Genomic Medicine, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, United States.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, 415 Main St., Cambridge, MA 02142, United States., Singleton K; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301 Atlanta, GA 30322, United States., Beaty TH; Department of Epidemiology, Johns Hopkins University, 615 North Wolfe Street, Baltimore, MD 21205, United States., Erger F; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Straße 34, 50931 Cologne, Germany., Epstein MP; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301 Atlanta, GA 30322, United States., Feingold E; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, United States.; Department of Human Genetics, School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, United States., Krause M; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Straße 34, 50931 Cologne, Germany., Moreno Uribe LM; The Iowa Institute for Oral Health Research, College of Dentistry, University of Iowa, 801 Newton Rd., Iowa City, IA 52242, United States.; Department of Orthodontics, College of Dentistry, University of Iowa, 801 Newton Rd., Iowa City, IA 52242, United States., Netzer C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Straße 34, 50931 Cologne, Germany., Padilla CD; College of Medicine, University of the Philippines Manila, 547 Pedro Gil Street, Ermita Manila, Philippines.; Newborn Screening Reference Center, National Institutes of Health (Philippines), 1579 F.T. Benitez St., Malate Manila,Philippines., Shaffer JR; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, United States.; Department of Human Genetics, School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, United States., Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, United States.; Department of Human Genetics, School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, United States., Carlson JC; Department of Human Genetics, School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, United States.; Department of Biostatistics and Health Data Science, School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, United States., Velmans C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Straße 34, 50931 Cologne, Germany., Murray JC; Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Dworkin S; Department of Microbiology, Anatomy, Physiology and Pharmacology, La Trobe University, Plenty Road, Bundoora, VIC 3086, Australia., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, Pittsburgh, PA 15261, United States.; Department of Human Genetics, School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, United States., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, United States.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, 415 Main St., Cambridge, MA 02142, United States., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301 Atlanta, GA 30322, United States.

Source: Human molecular genetics [Hum Mol Genet] 2025 Dec 04; Vol. 34 (24), pp. 2088-2098.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

MeSH Terms: Cleft Palate*/genetics , Cleft Palate*/pathology , Transcription Factors*/genetics , Transcription Factors*/metabolism , DNA-Binding Proteins*/genetics , DNA-Binding Proteins*/metabolism , Cleft Lip*/genetics , Cleft Lip*/pathology , Haploinsufficiency*/genetics, Humans ; Animals ; Female ; Male ; Mice ; Philippines ; Genetic Predisposition to Disease ; Whole Genome Sequencing ; Loss of Function Mutation

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.

Authors: Robinson KR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Paschall JE; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21218, USA., Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos 101017, Nigeria., Beaty TH; Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21218, USA., Butali A; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA 52242, USA., Buxó CJ; School of Dental Medicine, University of Puerto Rico, San Juan, PR 00925, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Gowans LJJ; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Hecht JT; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX 77030, USA., Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA 94305, USA., Uribe LM; Department of Orthodontics and the Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Weinberg SM; Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA., Marazita ML; Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA., Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21218, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.

Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2679-2692. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

MeSH Terms: Cleft Palate*/genetics , Cleft Palate*/diagnosis , Cleft Palate*/pathology , Genetic Variation*, Exome/genetics ; Transcription Factors/genetics ; Humans ; Female ; Male ; Genome-Wide Association Study ; Syndrome ; Genetic Predisposition to Disease ; Phenotype ; Exome Sequencing ; Peptide Elongation Factors ; Ribonucleoprotein, U5 Small Nuclear

Identification of functional non-coding variants associated with orofacial cleft.

Authors: Kumari P; Department of Oral Health Sciences, University of Washington, Seattle, WA, USA., Friedman RZ; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Pi L; Cencora-PharmaLex, Conshohocken, PA, USA., Paraiso K; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Visel A; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; U.S. Department of Energy Joint Genome Institute, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; School of Natural Sciences, University of California, Merced, CA, USA., Rhea L; Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Dunnwald M; Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Patni AP; Department of Oral Health Sciences, University of Washington, Seattle, WA, USA.; Department of Biochemistry, University of Washington School of Medicine, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, USA., Mar D; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, USA.; UW Medicine South Lake Union, University of Washington, Seattle, WA, USA., Bomsztyk K; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, USA.; UW Medicine South Lake Union, University of Washington, Seattle, WA, USA.; Matchstick Technologies, Inc, Kirkland, WA, USA., Mathieu J; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Department of Comparative Medicine, University of Washington School of Medicine, Seattle, WA, USA., Ruohola-Baker H; Department of Oral Health Sciences, University of Washington, Seattle, WA, USA.; Department of Biochemistry, University of Washington School of Medicine, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Bioengineering, University of Washington, Seattle, WA, USA.; Institute on Human Development and Disability, University of Washington, Seattle, WA, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., White MA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Cohen BA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Cornell RA; Department of Oral Health Sciences, University of Washington, Seattle, WA, USA. cornellr@uw.edu.; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, USA. cornellr@uw.edu.; Institute on Human Development and Disability, University of Washington, Seattle, WA, USA. cornellr@uw.edu.

Source: Nature communications [Nat Commun] 2025 Jul 16; Vol. 16 (1), pp. 6545. Date of Electronic Publication: 2025 Jul 16.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

MeSH Terms: Cleft Palate*/genetics , Cleft Lip*/genetics , Polymorphism, Single Nucleotide*, Interferon Regulatory Factors/genetics ; Interferon Regulatory Factors/metabolism ; Forkhead Transcription Factors/genetics ; Forkhead Transcription Factors/metabolism ; Transcription Factor AP-2/genetics ; Induced Pluripotent Stem Cells/metabolism ; Humans ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Alleles ; Cell Line ; Enhancer Elements, Genetic

Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.

Authors: Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Cook LE; Environmental Genomics and Systems Biology Division, National Laboratsory, Berkeley, California, USA., Paraiso K; Environmental Genomics and Systems Biology Division, National Laboratsory, Berkeley, California, USA., Visel A; Environmental Genomics and Systems Biology Division, National Laboratsory, Berkeley, California, USA.; U.S. Department of Energy Joint Genome Institute, Lawrence Berkeley National Laboratory, Berkeley, California, USA., Cotney JL; Department of Surgery, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA., Beaty TH; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA., Marazita ML; Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Carlson JC; Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Biostatistics and Health Data Science, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Source: Birth defects research [Birth Defects Res] 2025 Jul; Vol. 117 (7), pp. e2499.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

MeSH Terms: Cleft Lip*/genetics , Cleft Palate*/genetics, Genome-Wide Association Study/methods ; Interferon Regulatory Factors/genetics ; Interferon Regulatory Factors/metabolism ; Genetic Variation/genetics ; Enhancer Elements, Genetic/genetics ; Humans ; Animals ; Mice ; Genetic Predisposition to Disease ; Genetic Loci ; Female

Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.

Authors: Khouri-Farah N; Graduate Program in Genetics and Developmental Biology, UConn Health., Winchester EW; Graduate Program in Genetics and Developmental Biology, UConn Health., Schilder BM; Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, W12 0BZ, UK.; UK Dementia Research Institute at Imperial College London, London, W12 0BZ, UK., Robinson K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Skene NG; Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, W12 0BZ, UK.; UK Dementia Research Institute at Imperial College London, London, W12 0BZ, UK., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Cotney J; Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Feb 05. Date of Electronic Publication: 2025 Feb 05.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.

Authors: Caetano da Silva C; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Macias Trevino C; Harvard Medical School, Boston, MA, USA., Mitchell J; Massachusetts General Hospital, Boston, MA, USA., Murali H; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Tsimbal C; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Dalessandro E; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Carroll SH; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Kochhar S; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Cheng CHE; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang F; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kutschera E; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Carstens RP; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Xing Y; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang K; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Liao EC; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA. liaoce@chop.edu.; Harvard Medical School, Boston, MA, USA. liaoce@chop.edu.; Shriners Hospital for Children, Tampa, FL, USA. liaoce@chop.edu.; Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. liaoce@chop.edu.

Source: Communications biology [Commun Biol] 2024 Aug 23; Vol. 7 (1), pp. 1040. Date of Electronic Publication: 2024 Aug 23.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE

MeSH Terms: Zebrafish*/genetics , Zebrafish*/embryology , RNA-Binding Proteins*/genetics , RNA-Binding Proteins*/metabolism , Cleft Palate*/genetics , Cleft Palate*/embryology , Protein Isoforms*/genetics , Protein Isoforms*/metabolism, Cleft Lip/genetics ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism ; Animals ; Humans ; Mice ; Alternative Splicing ; Cell Line ; Mutation

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.

Authors: Itai T; Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Yan F; Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Liu A; Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, Houston, TX 77030, USA., Dai Y; Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Iwaya C; Department of Diagnostic & Biomedical Sciences, School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX 77054, USA; Center for Craniofacial Research, School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX 77054, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Simon LM; Therapeutic Innovation Center, Baylor College of Medicine, Houston, TX 77030, USA., Jia P; Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Chen X; Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Iwata J; Department of Diagnostic & Biomedical Sciences, School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX 77054, USA; Center for Craniofacial Research, School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX 77054, USA; Pediatric Research Center, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA., Zhao Z; Center for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, Houston, TX 77030, USA; MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address: zhongming.zhao@uth.tmc.edu.

Source: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100313. Date of Electronic Publication: 2024 May 27.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

MeSH Terms: Cleft Lip*/genetics , Cleft Palate*/genetics , Single-Cell Analysis*, Genetic Variation/genetics ; Humans ; Mice ; Animals ; Transcriptome ; Gene Expression Profiling

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.

Authors: da Silva CC; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Trevino CM; Harvard Medical School, Boston, MA, USA., Mitchell J; Massachusetts General Hospital, Boston, MA, USA., Murali H; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Tsimbal C; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Dalessandro E; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Carroll SH; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Kochhar S; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Cheng CHE; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Wang F; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA., Kutschera E; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA., Carstens RP; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Xing Y; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wang K; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Liao EC; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Harvard Medical School, Boston, MA, USA.; Shriners Hospital for Children, Tampa, FL, USA.; Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jul 02. Date of Electronic Publication: 2024 Jul 02.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

The heterogeneous genetic architectures of orofacial clefts.

Authors: Robinson K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.

Source: Trends in genetics : TIG [Trends Genet] 2024 May; Vol. 40 (5), pp. 410-421. Date of Electronic Publication: 2024 Mar 13.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Trends Journals Country of Publication: England NLM ID: 8507085 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0168-9525 (Print) Linking ISSN: 01689525 NLM ISO Abbreviation: Trends Genet Subsets: MEDLINE

MeSH Terms: Cleft Lip*/genetics , Cleft Palate*/genetics, Humans ; Phenotype ; Genetic Predisposition to Disease ; Risk Factors