Publications

  • Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG
    Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
    American journal of medical genetics. Part A , 2014 July : 164(7)1713-33
  • Cox TC, Camci ED, Vora S, Luquetti DV, Turner EE
    The genetics of auricular development and malformation: New findings in model systems driving future directions for microtia research.
    European journal of medical genetics , 2014 May 29
  • Gordon CT, Cunniff CM, Green GE, Zechi-Ceide RM, Johnson JM, Henderson A, Petit F, Kokitsu-Nakata NM, Guion-Almeida ML, Munnich A, Cunningham ML, Lyonnet S, Amiel J
    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
    American journal of medical genetics. Part A , 2014 Mar. 26
  • McRay B, Cox TC, Cohenca N, Johnson JD, Paranjpe A
    A micro-computed tomography-based comparison of the canal transportation and centering ability of ProTaper Universal rotary and WaveOne reciprocating files.
    Quintessence international (Berlin, Germany : 1985) , 2014 Feb. : 45(2)101-8
  • Kim SD, Yagnik G, Cunningham ML, Kim J, Boyadjiev SA
    MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2014 Jan. : 51(1)115-9
  • Turner EE, Cox TC
    Genetic evidence for conserved non-coding element function across species-the ears have it.
    Frontiers in physiology , 2014 : 57
  • Wang KH, Heike CL, Clarkson MD, Mejino JL, Brinkley JF, Tse RW, Birgfeld CB, Fitzsimons DA, Cox TC
    Evaluation and integration of disparate classification systems for clefts of the lip.
    Frontiers in physiology , 2014 : 5163
  • Turner EE, Cox TC
    Genetic evidence for conserved non-coding element function across species-the ears have it.
    Frontiers in physiology , 2014 : 57
  • Lu T, Chen R, Cox TC, Moldrich RX, Kurniawan N, Tan G, Perry JK, Ashworth A, Bartlett PF, Xu L, Zhang J, Lu B, Wu M, Shen Q, Liu Y, Richards LJ, Xiong Z
    X-linked microtubule-associated protein, Mid1, regulates axon development.
    Proceedings of the National Academy of Sciences of the United States of America , 2013 Nov. 19 : 110(47)19131-6
  • Lu T, Chen R, Cox TC, Moldrich RX, Kurniawan N, Tan G, Perry JK, Ashworth A, Bartlett PF, Xu L, Zhang J, Lu B, Wu M, Shen Q, Liu Y, Richards LJ, Xiong Z
    X-linked microtubule-associated protein, Mid1, regulates axon development.
    Proceedings of the National Academy of Sciences of the United States of America , 2013 Nov. 19 : 110(47)19131-6
  • Cox TC, Luquetti DV, Cunningham ML
    Perspectives and challenges in advancing research into craniofacial anomalies.
    American journal of medical genetics. Part C, Seminars in medical genetics , 2013 Nov. : 163(4)213-7
  • Siebert JR, Smith KJ, Cox LL, Glass IA, Cox TC
    Microtomographic analysis of lower urinary tract obstruction.
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2013 Nov. : 16(6)405-14
  • Cox TC, Luquetti DV, Cunningham ML
    Perspectives and challenges in advancing research into craniofacial anomalies.
    American journal of medical genetics. Part C, Seminars in medical genetics , 2013 Nov. : 163C(4)213-7
  • Siebert JR, Smith KJ, Cox LL, Glass IA, Cox TC
    Microtomographic analysis of lower urinary tract obstruction.
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2013 Nov. : 16(6)405-14
  • Luquetti DV, Saltzman BS, Lopez-Camelo J, Dutra Mda G, Castilla EE
    Risk factors and demographics for microtia in South America: a case-control analysis.
    Birth defects research. Part A, Clinical and molecular teratology , 2013 Nov. : 97(11)736-43
  • Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T
    Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
    American journal of medical genetics. Part A , 2013 Sept. : 161(9)2339-46
  • Evans KN, Gruss JS, Khanna PC, Cunningham ML, Cox TC, Hing AV
    Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
    American journal of medical genetics. Part A , 2013 June : 161A(6)1345-53
  • Evans KN, Gruss JS, Khanna PC, Cunningham ML, Cox TC, Hing AV
    Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
    American journal of medical genetics. Part A , 2013 June : 161A(6)1345-53
  • Luquetti DV, Saltzman BS, Sie KC, Birgfeld CB, Leroux BG, Evans KN, Smartt JM Jr, Tieu DD, Dudley DJ, Heike CL
    Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia.
    American journal of medical genetics. Part A , 2013 June : 161A(6)1264-72
  • Evans KN, Gruss JS, Khanna PC, Cunningham ML, Cox TC, Hing AV
    Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
    American journal of medical genetics. Part A , 2013 June : 161A(6)1345-53
  • Luquetti DV, Saltzman BS, Sie KC, Birgfeld CB, Leroux BG, Evans KN, Smartt JM Jr, Tieu DD, Dudley DJ, Heike CL
    Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia.
    American journal of medical genetics. Part A , 2013 June : 161A(6)1264-72
  • Luquetti DV, Cox TC, Lopez-Camelo J, Dutra Mda G, Cunningham ML, Castilla EE
    Preferential associated anomalies in 818 cases of microtia in South America.
    American journal of medical genetics. Part A , 2013 May : 161A(5)1051-7
  • Luquetti DV, Cox TC, Lopez-Camelo J, Dutra Mda G, Cunningham ML, Castilla EE
    Preferential associated anomalies in 818 cases of microtia in South America.
    American journal of medical genetics. Part A , 2013 May : 161A(5)1051-7
  • Birgfeld CB, Saltzman BS, Luquetti DV, Latham K, Starr JR, Heike CL
    Comparison of two-dimensional and three-dimensional images for phenotypic assessment of craniofacial microsomia.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2013 May : 50(3)305-14
  • Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J
    Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
    Journal of medical genetics , 2013 Mar. : 50(3)174-86
  • Menendez L, Kulik MJ, Page AT, Park SS, Lauderdale JD, Cunningham ML, Dalton S
    Directed differentiation of human pluripotent cells to neural crest stem cells.
    Nature protocols , 2013 Jan. 3 : 8(1)203-12
  • Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML
    "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
    American journal of medical genetics. Part A , 2013 Jan. : 161A(1)108-13
  • Collett BR, Gray KE, Starr JR, Heike CL, Cunningham ML, Speltz ML
    Development at age 36 months in children with deformational plagiocephaly.
    Pediatrics , 2013 Jan. : 131(1)e109-15
  • Gallagher ER, Evans KN, Hing AV, Cunningham ML
    Bathrocephaly: a head shape associated with a persistent mendosal suture.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2013 Jan. : 50(1)104-8
  • Gallagher ER, Evans KN, Hing AV, Cunningham ML
    Bathrocephaly: a head shape associated with a persistent mendosal suture.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2013 Jan. : 50(1)104-8
  • Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML
    "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
    American journal of medical genetics. Part A , 2013 Jan. : 161A(1)108-13
  • Birgfeld CB, Saltzman BS, Hing AV, Heike CL, Khanna PC, Gruss JS, Hopper RA
    Making the diagnosis: metopic ridge versus metopic craniosynostosis.
    The Journal of craniofacial surgery , 2013 Jan. : 24(1)178-85
  • Brinkley JF, Mejino JL, Detwiler LT, Travillian RS, Clarkson M, Cox T, Heike C, Cunningham M, Hochheiser H, Shapiro LG
    Towards understanding craniofacial abnormalities: the ontology of craniofacial development and malformation.
    AMIA Joint Summits on Translational Science proceedings AMIA Summit on Translational Science , 2013 : 201320
  • Gallagher ER, Evans KN, Hing AV, Cunningham ML
    Bathrocephaly: a head shape associated with a persistent mendosal suture.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2013 Jan. : 50(1)104-8
  • Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML
    "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
    American journal of medical genetics. Part A , 2013 Jan. : 161A(1)108-13
  • Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA
    A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
    Nature genetics , 2012 Dec. : 44(12)1360-4
  • Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA
    ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
    Human mutation , 2012 Dec. : 33(12)1626-9
  • Luquetti DV, Saltzman BS, Vivaldi D, Pimenta LA, Hing AV, Cassell CH, Starr JR, Heike CL
    Evaluation of ICD-9-CM codes for craniofacial microsomia.
    Birth defects research. Part A, Clinical and molecular teratology , 2012 Dec. : 94(12)990-5
  • Quina LA, Kuramoto T, Luquetti DV, Cox TC, Serikawa T, Turner EE
    Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
    Disease models & mechanisms , 2012 Nov. : 5(6)812-22
  • Quina LA, Kuramoto T, Luquetti DV, Cox TC, Serikawa T, Turner EE
    Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
    Disease models & mechanisms , 2012 Nov. : 5(6)812-22
  • Quina LA, Kuramoto T, Luquetti DV, Cox TC, Serikawa T, Turner EE
    Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
    Disease models & mechanisms , 2012 Nov. : 5(6)812-22
  • Yamamura B, Cox TC, Heddaya B, Flake NM, Johnson JD, Paranjpe A
    Comparing canal transportation and centering ability of endosequence and vortex rotary files by using micro-computed tomography.
    Journal of endodontics , 2012 Aug. : 38(8)1121-5
  • Birgfeld CB, Saltzman BS, Luquetti DV, Latham K, Starr JR, Heike CL
    Comparison of Two-Dimensional and Three-Dimensional Images for Phenotypic Assessment of Craniofacial Microsomia.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2012 July 31
  • Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK
    Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
    Nature genetics , 2012 June 24 : 44(8)928-33
  • Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
    A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
    American journal of human genetics , 2012 May 4 : 90(5)907-14
  • Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
    A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
    American journal of human genetics , 2012 May 4 : 90(5)907-14
  • Quina LA, Tempest L, Hsu YW, Cox TC, Turner EE
    Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion.
    Developmental biology , 2012 May 1 : 365(1)152-63
  • Collett BR, Heike CL, Atmosukarto I, Starr JR, Cunningham ML, Speltz ML
    Longitudinal, three-dimensional analysis of head shape in children with and without deformational plagiocephaly or brachycephaly.
    The Journal of pediatrics , 2012 Apr, : 160(4)673-678.e1
  • Hing AV, Mefford HC, Cunningham ML
    New developments in genetic diagnosis: implications for the craniofacial surgeon.
    The Journal of craniofacial surgery , 2012 Jan. : 23(1)212-6
  • Nelsen LM, Shields KE, Cunningham ML, Stoler JM, Bamshad MJ, Eng PM, Smugar SS, Gould AL, Philip G
    Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications.
    The Journal of allergy and clinical immunology , 2012 Jan. : 129(1)251-4.e1-6
  • Stamper BD, Park SS, Beyer RP, Bammler TK, Cunningham ML
    Unique sex-based approach identifies transcriptomic biomarkers associated with non-syndromic craniosynostosis.
    Gene regulation and systems biology , 2012 : 681-92
  • McCarthy JG, Warren SM, Bernstein J, Burnett W, Cunningham ML, Edmond JC, Figueroa AA, Kapp-Simon KA, Labow BI, Peterson-Falzone SJ, Proctor MR, Rubin MS, Sze RW, Yemen TA, Craniosynostosis Working Group
    Parameters of care for craniosynostosis.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2012 Jan. : 49 Suppl1S-24S
  • Hing AV, Mefford HC, Cunningham ML
    New developments in genetic diagnosis: implications for the craniofacial surgeon.
    The Journal of craniofacial surgery , 2012 Jan. : 23(1)212-6
  • Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
    Microtia: Epidemiology and genetics.
    American journal of medical genetics. Part A , 2012 Jan. : 158A(1)124-39
  • Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
    Microtia: Epidemiology and genetics.
    American journal of medical genetics. Part A , 2011 Nov. 21
  • Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
    Microtia: Epidemiology and genetics.
    American journal of medical genetics. Part A , 2011 Nov.
  • Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, Bult C, Richardson J, Kile BT, Gut I, Hager J, Sigurdsson S, Mauceli E, Di Palma F, Lindblad-Toh K, Cunningham ML, Cox TC, Justice MJ, Spector MS, Lowe SW, Albert T, Donahue LR, Jeddeloh J, Shendure J, Reinholdt LG
    Mutation discovery in mice by whole exome sequencing.
    Genome biology , 2011 Sept. 14 : R86
  • Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, Bult C, Richardson J, Kile BT, Gut I, Hager J, Sigurdsson S, Mauceli E, Di Palma F, Lindblad-Toh K, Cunningham ML, Cox TC, Justice MJ, Spector MS, Lowe SW, Albert T, Donahue LR, Jeddeloh J, Shendure J, Reinholdt LG
    Mutation discovery in mice by whole exome sequencing.
    Genome biology , 2011 Sept. 14 : 12(9)R86
  • Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
    Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
    PLoS genetics , 2011 Sept. : e1002278
  • Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
    Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
    PLoS genetics , 2011 Sept. : 7(9)e1002278
  • Luquetti DV, Leoncini E, Mastroiacovo P
    Microtia-anotia: a global review of prevalence rates.
    Birth defects research. Part A, Clinical and molecular teratology , 2011 Sept. : 813-22
  • Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
    Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
    PLoS genetics , 2011 Sept. : 7(9)e1002278
  • Hochheiser H, Aronow BJ, Artinger K, Beaty TH, Brinkley JF, Chai Y, Clouthier D, Cunningham ML, Dixon M, Donahue LR, Fraser SE, Hallgrimsson B, Iwata J, Klein O, Marazita ML, Murray JC, Murray S, de Villena FP, Postlethwait J, Potter S, Shapiro L, Spritz R, Visel A, Weinberg SM, Trainor PA
    The FaceBase Consortium: a comprehensive program to facilitate craniofacial research.
    Developmental biology , 2011 July 15 : 175-82
  • Parhizkar N, Saltzman B, Grote K, Starr J, Cunningham M, Perkins J, Sie K
    Nasopharyngeal airway for management of airway obstruction in infants with micrognathia.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2011 July : 478-82
  • Purushothaman R, Cox TC, Muga AM, Cunningham ML
    Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
    Birth defects research. Part A, Clinical and molecular teratology , 2011 July : 603-9
  • Collett BR, Starr JR, Kartin D, Heike CL, Berg J, Cunningham ML, Speltz ML
    Development in toddlers with and without deformational plagiocephaly.
    Archives of pediatrics & adolescent medicine , 2011 July : 653-8
  • Purushothaman R, Cox TC, Muga AM, Cunningham ML
    Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
    Birth defects research. Part A, Clinical and molecular teratology , 2011 July : 91(7)603-9
  • Yu K, Ornitz DM
    Histomorphological study of palatal shelf elevation during murine secondary palate formation.
    Developmental dynamics : an official publication of the American Association of Anatomists , 2011 July : 240(7)1737-44
  • Purushothaman R, Cox TC, Muga AM, Cunningham ML
    Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
    Birth defects research. Part A, Clinical and molecular teratology , 2011 July : 91(7)603-9
  • Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M
    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
    Journal of medical genetics , 2011 June : 48(6)375-82
  • Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M
    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
    Journal of medical genetics , 2011 June : 48(6)375-82
  • Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML
    Robin sequence: from diagnosis to development of an effective management plan.
    Pediatrics , 2011 May : 936-48
  • Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML
    Robin sequence: from diagnosis to development of an effective management plan.
    Pediatrics , 2011 May : 127(5)936-48
  • Wiseman A, Cox TC, Paranjpe A, Flake NM, Cohenca N, Johnson JD
    Efficacy of sonic and ultrasonic activation for removal of calcium hydroxide from mesial canals of mandibular molars: a microtomographic study.
    Journal of endodontics , 2011 Feb. : 37(2)235-8
  • Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE
    Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
    American journal of medical genetics. Part A , 2011 Jan. : 22-32
  • Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML
    IGF1R variants associated with isolated single suture craniosynostosis.
    American journal of medical genetics. Part A , 2011 Jan. : 91-7
  • Stamper BD, Park SS, Beyer RP, Bammler TK, Farin FM, Mecham B, Cunningham ML
    Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis.
    PloS one , 2011 : e26557
  • Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML
    IGF1R variants associated with isolated single suture craniosynostosis.
    American journal of medical genetics. Part A , 2011 Jan. : 155A(1)91-7
  • Birgfeld CB, Luquetti DV, Gougoutas AJ, Bartlett SP, Low DW, Sie KC, Evans KN, Heike CL
    A phenotypic assessment tool for craniofacial microsomia.
    Plastic and reconstructive surgery , 2011 Jan. : 127(1)313-20
  • Birgfeld CB, Luquetti DV, Gougoutas AJ, Bartlett SP, Low DW, Sie KC, Evans KN, Heike CL
    A phenotypic assessment tool for craniofacial microsomia.
    Plastic and reconstructive surgery , 2011 Jan. : 313-20
  • Luquetti DV, Koifman RJ
    Surveillance of birth defects: Brazil and the US.
    Ciencia & saude coletiva , 2011 : 777-85
  • Rolfe SM, Shapiro LG, Cox TC, Maga AM, Cox LL
    A landmark-free framework for the detection and description of shape differences in embryos.
    Conference proceedings : ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference , 2011 : 20115153-6
  • Horst JA, Wang K, Horst OV, Cunningham ML, Samudrala R
    Disease Risk of Missense Mutations using Structural Inference from Predicted Function.
    Current protein & peptide science , 2010 Nov. 4
  • Lam DJ, Jensen CC, Mueller BA, Starr JR, Cunningham ML, Weaver EM
    Pediatric sleep apnea and craniofacial anomalies: a population-based case-control study.
    The Laryngoscope , 2010 Oct. : 2098-105
  • Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML
    Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.
    American journal of medical genetics. Part A , 2010 Sept. : 2203-10
  • Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML
    Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.
    American journal of medical genetics. Part A , 2010 Sept. : 2203-10
  • Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2010 Aug. 30
  • Zovein AC, Turlo KA, Ponec RM, Lynch MR, Chen KC, Hofmann JJ, Cox TC, Gasson JC, Iruela-Arispe ML
    Vascular remodeling of the vitelline artery initiates extra-vascular emergence of hematopoietic clusters.
    Blood , 2010 Aug. 10
  • Starr JR, Lin HJ, Ruiz-Correa S, Cunningham ML, Ellenbogen RG, Collett BR, Kapp-Simon KA, Speltz ML
    Little evidence of association between severity of trigonocephaly and cognitive development in infants with single-suture metopic synostosis.
    Neurosurgery , 2010 Aug. : 408-15; discussion 415-6
  • Perkins JA, Manning SC, Tempero RM, Cunningham MJ, Edmonds JL Jr, Hoffer FA, Egbert MA
    Lymphatic malformations: review of current treatment.
    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery , 2010 June : 795-803, 803.e1
  • White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J
    Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
    Twin research and human genetics : the official journal of the International Society for Twin Studies , 2010 Apr, : 168-78
  • Collett BR, Stott-Miller M, Kapp-Simon KA, Cunningham ML, Speltz ML
    Reading in children with orofacial clefts versus controls.
    Journal of pediatric psychology , 2010 Mar. : 199-208
  • Speltz ML, Collett BR, Stott-Miller M, Starr JR, Heike C, Wolfram-Aduan AM, King D, Cunningham ML
    Case-control study of neurodevelopment in deformational plagiocephaly.
    Pediatrics , 2010 Mar. : e537-42
  • Snyder-Warwick AK, Perlyn CA, Pan J, Yu K, Zhang L, Ornitz DM
    Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.
    Proceedings of the National Academy of Sciences of the United States of America , 2010 Feb. 9 : 107(6)2515-20
  • Kaminen-Ahola N, Ahola A, Maga M, Mallitt KA, Fahey P, Cox TC, Whitelaw E, Chong S
    Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model.
    PLoS genetics , 2010 Jan. 15 : e1000811
  • Kaminen-Ahola N, Ahola A, Maga M, Mallitt KA, Fahey P, Cox TC, Whitelaw E, Chong S
    Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model.
    PLoS genetics , 2010 Jan. 15 : 6(1)e1000811
  • Heike CL, Starr JR, Rieder MJ, Cunningham ML, Edwards KL, Stanaway IB, Crawford DC
    Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.
    Birth defects research. Part A, Clinical and molecular teratology , 2010 Jan. : 54-63
  • Tao H, Liu W, Simmons BN, Harris HK, Cox TC, Massiah MA
    Purifying natively folded proteins from inclusion bodies using sarkosyl, Triton X-100, and CHAPS.
    BioTechniques , 2010 Jan. : 61-4
  • Luquetti DV, Koifman RJ
    Validity and reliability of the Brazilian birth certificate for reporting birth defects.
    Journal of registry management , 2010 : 112-20
  • Dana A, Buchanan KM, Goss MA, Seminack MM, Shields KE, Korn S, Cunningham ML, Haupt RM
    Pregnancy outcomes from the pregnancy registry of a human papillomavirus type 6/11/16/18 vaccine.
    Obstetrics and gynecology , 2009 Dec. : 1170-8
  • Heike CL, Cunningham ML, Hing AV, Stuhaug E, Starr JR
    Picture perfect? Reliability of craniofacial anthropometry using three-dimensional digital stereophotogrammetry.
    Plastic and reconstructive surgery , 2009 Oct. : 1261-72
  • Heike CL, Cunningham ML, Hing AV, Stuhaug E, Starr JR
    Picture perfect? Reliability of craniofacial anthropometry using three-dimensional digital stereophotogrammetry.
    Plastic and reconstructive surgery , 2009 Oct. : 1261-72
  • Luquetti DV, Koifman RJ
    Quality of reporting on birth defects in birth certificates: case study from a Brazilian reference hospital.
    Cadernos de saude publica / Ministerio da Saude, Fundacao Oswaldo Cruz, Escola Nacional de Saude Publica , 2009 Aug. : 1721-31
  • McKinney CM, Cunningham ML, Holt VL, Leroux B, Starr JR
    A case-control study of infant, maternal and perinatal characteristics associated with deformational plagiocephaly.
    Paediatric and perinatal epidemiology , 2009 July : 332-45
  • Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML
    Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
    American journal of medical genetics. Part A , 2009 May : 1024-32
  • Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML
    Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
    American journal of medical genetics. Part A , 2009 May : 1024-32
  • Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC
    Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
    American journal of human genetics , 2009 Mar. : 84(3)406-11
  • Atmosukarto I, Shapiro LG, Cunningham ML, Speltz M
    Automatic 3D Shape Severity Quantification and Localization for Deformational Plagiocephaly.
    Proceedings of SPIE , 2009 Jan. 1
  • Ploplys EA, Hopper RA, Muzaffar AR, Starr JR, Avellino AM, Cunningham ML, Ellenbogen RG, Gruss JS
    Comparison of computed tomographic imaging measurements with clinical findings in children with unilateral lambdoid synostosis.
    Plastic and reconstructive surgery , 2009 Jan. : 300-9
  • Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP
    Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
    Nature genetics , 2009 Jan. : 95-100
  • Drenckhahn JD, Schwarz QP, Gray S, Laskowski A, Kiriazis H, Ming Z, Harvey RP, Du XJ, Thorburn DR, Cox TC
    Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.
    Developmental cell , 2008 Oct. : 521-33
  • Ruiz-Correa S, Starr JR, Lin HJ, Kapp-Simon KA, Sze RW, Ellenbogen RG, Speltz ML, Cunningham ML
    New severity indices for quantifying single-suture metopic craniosynostosis.
    Neurosurgery , 2008 Aug. : 318-24; discussion 324-5
  • McKinney CM, Holt VL, Cunningham ML, Leroux BG, Starr JR
    Maternal and infant characteristics associated with prone and lateral infant sleep positioning in Washington state, 1996-2002.
    The Journal of pediatrics , 2008 Aug. : 194-8, 198.e1-3
  • Ruiz-Correa S, Starr JR, Lin HJ, Kapp-Simon KA, Sze RW, Ellenbogen RG, Speltz ML, Cunningham ML
    New severity indices for quantifying single-suture metopic craniosynostosis.
    Neurosurgery , 2008 Aug. : 318-24; discussion 324-5
  • Zhao H, Yang T, Madakashira BP, Thiels CA, Bechtle CA, Garcia CM, Zhang H, Yu K, Ornitz DM, Beebe DC, Robinson ML
    Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation.
    Developmental biology , 2008 June 15 : 318(2)276-88
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
    Molecular Cytogenetics , 2008 Apr, 21 : 7
  • McKinney CM, Cunningham ML, Holt VL, Leroux B, Starr JR
    Characteristics of 2733 cases diagnosed with deformational plagiocephaly and changes in risk factors over time.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2008 Mar. : 208-16
  • Tao H, Simmons BN, Singireddy S, Jakkidi M, Short KM, Cox TC, Massiah MA
    Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.
    Biochemistry , 2008 Feb. 26 : 2450-7
  • Yu K, Ornitz DM
    FGF signaling regulates mesenchymal differentiation and skeletal patterning along the limb bud proximodistal axis.
    Development (Cambridge, England) , 2008 Feb. : 135(3)483-91
  • Ashe A, Morgan DK, Whitelaw NC, Bruxner TJ, Vickaryous NK, Cox LL, Butterfield NC, Wicking C, Blewitt ME, Wilkins SJ, Anderson GJ, Cox TC, Whitelaw E
    A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.
    Genome biology , 2008 : R182
  • Sanchez-Lara PA, Graham JM Jr, Hing AV, Lee J, Cunningham M
    The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.
    American journal of medical genetics. Part A , 2007 Dec. 15 : 3243-51
  • Sanchez-Lara PA, Graham JM Jr, Hing AV, Lee J, Cunningham M
    The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.
    American journal of medical genetics. Part A , 2007 Dec. 15 : 3243-51
  • Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G
    Al-Awadi/Raas-Rothschild syndrome: two new cases and review.
    American journal of medical genetics. Part A , 2007 Dec. 15 : 3169-74
  • Cunningham ML, Heike CL
    Evaluation of the infant with an abnormal skull shape.
    Current opinion in pediatrics , 2007 Dec. : 645-51
  • Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G
    A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
    American journal of medical genetics. Part A , 2007 Nov. 15 : 2733-7
  • Toth K, Collett B, Kapp-Simon KA, Cloonan YK, Gaither R, Cradock MM, Buono L, Cunningham ML, Dawson G, Starr J, Speltz ML
    Memory and Response Inhibition in Young Children with Single-Suture Craniosynostosis.
    Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence , 2007 Sept. 26 : 1-14
  • Zhang H, Somerman MJ, Berg J, Cunningham ML, Williams B
    Dental anomalies in a child with craniometaphysial dysplasia.
    Pediatric dentistry , 2007 Sept. : 415-9
  • Ruiz-Correa S, Starr JR, Lin HJ, Kapp-Simon KA, Cunningham ML, Speltz ML
    Severity of skull malformation is unrelated to presurgery neurobehavioral status of infants with sagittal synostosis.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2007 Sept. : 548-54
  • Zhang H, Somerman MJ, Berg J, Cunningham ML, Williams B
    Dental anomalies in a child with craniometaphysial dysplasia.
    Pediatric dentistry , 2007 Sept. : 415-9
  • Saarimäki-Vire J, Peltopuro P, Lahti L, Naserke T, Blak AA, Vogt Weisenhorn DM, Yu K, Ornitz DM, Wurst W, Partanen J
    Fibroblast growth factor receptors cooperate to regulate neural progenitor properties in the developing midbrain and hindbrain.
    The Journal of neuroscience : the official journal of the Society for Neuroscience , 2007 Aug. 8 : 27(32)8581-92
  • Starr JR, Kapp-Simon KA, Cloonan YK, Collett BR, Cradock MM, Buono L, Cunningham ML, Speltz ML
    Presurgical and postsurgical assessment of the neurodevelopment of infants with single-suture craniosynostosis: comparison with controls.
    Journal of neurosurgery , 2007 Aug. : 103-10
  • Is cleft lip and palate ever isolated? Phenotype is in the eye of the beholder.
    Archives of pediatrics & adolescent medicine , 2007 Aug. : 811-2
  • Starr JR, Kapp-Simon KA, Cloonan YK, Collett BR, Cradock MM, Buono L, Cunningham ML, Speltz ML
    Presurgical and postsurgical assessment of the neurodevelopment of infants with single-suture craniosynostosis: comparison with controls.
    Journal of neurosurgery , 2007 Aug. : 103-10
  • Hung IH, Yu K, Lavine KJ, Ornitz DM
    FGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopod.
    Developmental biology , 2007 July 15 : 307(2)300-13
  • Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G
    Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
    European journal of medical genetics , 2007 July : 301-8
  • Luquetti DV, Oliveira-Sobrinho RP, Gil-da-Silva-Lopes VL
    Gillespie syndrome: additional findings and parental consanguinity.
    Ophthalmic genetics , 2007 June : 89-93
  • Massiah MA, Matts JA, Short KM, Simmons BN, Singireddy S, Yi Z, Cox TC
    Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.
    Journal of molecular biology , 2007 May 25 : 1-10
  • Speltz ML, Kapp-Simon K, Collett B, Keich Y, Gaither R, Cradock MM, Buono L, Cunningham ML
    Neurodevelopment of infants with single-suture craniosynostosis: presurgery comparisons with case-matched controls.
    Plastic and reconstructive surgery , 2007 May : 1874-81
  • Heike CL, Avellino AM, Mirza SK, Kifle Y, Perkins J, Sze R, Egbert M, Hing AV
    Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2007 May : 340-6
  • Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV
    Syndromic craniosynostosis: from history to hydrogen bonds.
    Orthodontics & craniofacial research , 2007 May : 67-81
  • Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hopper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML
    Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
    American journal of medical genetics. Part A , 2007 Apr, 1 : 678-86
  • Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hopper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML
    Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
    American journal of medical genetics. Part A , 2007 Apr, 1 : 678-86
  • Kapp-Simon KA, Speltz ML, Cunningham ML, Patel PK, Tomita T
    Neurodevelopment of children with single suture craniosynostosis: a review.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery , 2007 Mar. : 269-81
  • Anderson PJ, Cox TC, Roscioli T, Elakis G, Smithers L, David DJ, Powell B
    Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
    The Journal of craniofacial surgery , 2007 Mar. : 312-4
  • Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M
    Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
    American journal of medical genetics. Part A , 2007 Feb. 1 : 241-7
  • Lin Y, Liu G, Zhang Y, Hu YP, Yu K, Lin C, McKeehan K, Xuan JW, Ornitz DM, Shen MM, Greenberg N, McKeehan WL, Wang F
    Fibroblast growth factor receptor 2 tyrosine kinase is required for prostatic morphogenesis and the acquisition of strict androgen dependency for adult tissue homeostasis.
    Development (Cambridge, England) , 2007 Feb. : 134(4)723-34
  • Three-dimensional ultrasonography is superior to 2-dimensional ultrasonography in the detection of orofacial clefts during the second trimester of pregnancy.
    The journal of evidence-based dental practice , 2006 Dec. : 278-9
  • Kaga Y, Shoemaker WJ, Furusho M, Bryant M, Rosenbluth J, Pfeiffer SE, Oh L, Rasband M, Lappe-Siefke C, Yu K, Ornitz DM, Nave KA, Bansal R
    Mice with conditional inactivation of fibroblast growth factor receptor-2 signaling in oligodendrocytes have normal myelin but display dramatic hyperactivity when combined with Cnp1 inactivation.
    The Journal of neuroscience : the official journal of the Society for Neuroscience , 2006 Nov. 22 : 26(47)12339-50
  • Hatch NE, Hudson M, Seto ML, Cunningham ML, Bothwell M
    Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
    The Journal of biological chemistry , 2006 Sept. 15 : 27292-305
  • Gutin G, Fernandes M, Palazzolo L, Paek H, Yu K, Ornitz DM, McConnell SK, Hébert JM
    FGF signalling generates ventral telencephalic cells independently of SHH.
    Development (Cambridge, England) , 2006 Aug. : 133(15)2937-46
  • Massiah MA, Simmons BN, Short KM, Cox TC
    Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING.
    Journal of molecular biology , 2006 Apr, 28 : 532-45
  • Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA
    A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
    American journal of medical genetics. Part A , 2006 Apr, 15 : 804-12
  • McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T
    A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
    Clinical dysmorphology , 2006 Apr, : 89-93
  • Short KM, Cox TC
    Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding.
    The Journal of biological chemistry , 2006 Mar. 31 : 8970-80
  • Washbourne BJ, Cox TC
    Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis.
    BMC developmental biology , 2006 Mar. 24 : 18
  • McDowell LM, Frazier BA, Studelska DR, Giljum K, Chen J, Liu J, Yu K, Ornitz DM, Zhang L
    Inhibition or activation of Apert syndrome FGFR2 (S252W) signaling by specific glycosaminoglycans.
    The Journal of biological chemistry , 2006 Mar. 17 : 281(11)6924-30
  • Ruiz-Correa S, Sze RW, Starr JR, Lin HT, Speltz ML, Cunningham ML, Hing AV
    New scaphocephaly severity indices of sagittal craniosynostosis: a comparative study with cranial index quantifications.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2006 Mar. : 211-21
  • Ruiz-Correa S, Sze RW, Starr JR, Lin HT, Speltz ML, Cunningham ML, Hing AV
    New scaphocephaly severity indices of sagittal craniosynostosis: a comparative study with cranial index quantifications.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2006 Mar. : 211-21
  • Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA
    Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
    Birth defects research. Part A, Clinical and molecular teratology , 2006 Feb. : 78-85
  • Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA
    Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
    Birth defects research. Part A, Clinical and molecular teratology , 2006 Feb. : 78-85
  • Ruiz-Correa S, Shapiro LG, Meila M, Berson G, Cunningham ML, Sze RW
    Symbolic signatures for deformable shapes.
    IEEE transactions on pattern analysis and machine intelligence , 2006 Jan. : 75-90
  • Tempero RM, Hannibal M, Finn LS, Manning SC, Cunningham ML, Perkins JA
    Lymphocytopenia in children with lymphatic malformation.
    Archives of otolaryngology--head & neck surgery , 2006 Jan. : 93-7
  • Heike CL, Cunningham ML, Steiner RD, Wenkert D, Hornung RL, Gruss JS, Gannon FH, McAlister WH, Mumm S, Whyte MP
    Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
    American journal of medical genetics. Part A , 2005 Dec. 1 : 67-77
  • Pollack PS, Shields KE, Burnett DM, Osborne MJ, Cunningham ML, Stepanavage ME
    Pregnancy outcomes after maternal exposure to simvastatin and lovastatin.
    Birth defects research. Part A, Clinical and molecular teratology , 2005 Nov. : 888-96
  • Sze RW, Hopper RA, Ghioni V, Gruss JS, Ellenbogen RG, King D, Hing AV, Cunningham ML
    MDCT diagnosis of the child with posterior plagiocephaly.
    AJR. American journal of roentgenology , 2005 Nov. : 1342-6
  • Sze RW, Hopper RA, Ghioni V, Gruss JS, Ellenbogen RG, King D, Hing AV, Cunningham ML
    MDCT diagnosis of the child with posterior plagiocephaly.
    AJR. American journal of roentgenology , 2005 Nov. : 1342-6
  • Gil-da-Silva-Lopes VL, Luquetti DV
    Congenital temporomandibular joint ankylosis: clinical characterization and natural history of four unrelated affected individuals.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2005 Nov. : 694-8
  • Collett B, Breiger D, King D, Cunningham M, Speltz M
    Neurodevelopmental implications of "deformational" plagiocephaly.
    Journal of developmental and behavioral pediatrics : JDBP , 2005 Oct. : 379-89
  • Wang Y, Xiao R, Yang F, Karim BO, Iacovelli AJ, Cai J, Lerner CP, Richtsmeier JT, Leszl JM, Hill CA, Yu K, Ornitz DM, Elisseeff J, Huso DL, Jabs EW
    Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
    Development (Cambridge, England) , 2005 Aug. : 132(15)3537-48
  • Kapp-Simon KA, Leroux B, Cunningham M, Speltz ML
    Multisite study of infants with single-suture craniosynostosis: preliminary report of presurgery development.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2005 July : 377-84
  • Garcia CM, Yu K, Zhao H, Ashery-Padan R, Ornitz DM, Robinson ML, Beebe DC
    Signaling through FGF receptor-2 is required for lens cell survival and for withdrawal from the cell cycle during lens fiber cell differentiation.
    Developmental dynamics : an official publication of the American Association of Anatomists , 2005 June : 233(2)516-27
  • Ratisoontorn C, Seto ML, Broughton KM, Cunningham ML
    In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome.
    Bone , 2005 Apr, : 627-34
  • Yeung LC, Cunningham ML, Allpress AL, Gruss JS, Ellenbogen RG, Zerr DM
    Surgical site infections after pediatric intracranial surgery for craniofacial malformations: frequency and risk factors.
    Neurosurgery , 2005 Apr, : 733-9; discussion 733-9
  • White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ
    Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
    American journal of human genetics , 2005 Feb. : 76(2)361-7
  • Lin HJ, Ruiz-Correa S, Shapiro LG, Cunningham ML, Sze RW
    A symbolic shaped-based retrieval of skull images.
    AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium , 2005 : 1030
  • So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S
    Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
    American journal of medical genetics. Part A , 2005 Jan. 1 : 1-7
  • Hu H, Hilton MJ, Tu X, Yu K, Ornitz DM, Long F
    Sequential roles of Hedgehog and Wnt signaling in osteoblast development.
    Development (Cambridge, England) , 2005 Jan. : 132(1)49-60
  • Lavine KJ, Yu K, White AC, Zhang X, Smith C, Partanen J, Ornitz DM
    Endocardial and epicardial derived FGF signals regulate myocardial proliferation and differentiation in vivo.
    Developmental cell , 2005 Jan. : 8(1)85-95
  • Speltz ML, Kapp-Simon KA, Cunningham M, Marsh J, Dawson G
    Single-suture craniosynostosis: a review of neurobehavioral research and theory.
    Journal of pediatric psychology , 2004 Dec. : 651-68
  • Hing AV, Syed N, Cunningham ML
    Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
    American journal of medical genetics. Part A , 2004 Aug. 1 : 374-82
  • Hing AV, Syed N, Cunningham ML
    Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
    American journal of medical genetics. Part A , 2004 Aug. 1 : 374-82
  • Hu S, Michels DA, Fazal MA, Ratisoontorn C, Cunningham ML, Dovichi NJ
    Capillary sieving electrophoresis/micellar electrokinetic capillary chromatography for two-dimensional protein fingerprinting of single mammalian cells.
    Analytical chemistry , 2004 July 15 : 4044-9
  • Ngo AV, Sze RW, Parisi MT, Sidhu M, Paladin AM, Weinberger E, Seidel KD, Cunningham ML
    Cranial suture simulator for ultrasound diagnosis of craniosynostosis.
    Pediatric radiology , 2004 July : 535-40
  • Heinloth AN, Irwin RD, Boorman GA, Nettesheim P, Fannin RD, Sieber SO, Snell ML, Tucker CJ, Li L, Travlos GS, Vansant G, Blackshear PE, Tennant RW, Cunningham ML, Paules RS
    Gene expression profiling of rat livers reveals indicators of potential adverse effects.
    Toxicological sciences : an official journal of the Society of Toxicology , 2004 July : 193-202
  • Ngo AV, Sze RW, Parisi MT, Sidhu M, Paladin AM, Weinberger E, Seidel KD, Cunningham ML
    Cranial suture simulator for ultrasound diagnosis of craniosynostosis.
    Pediatric radiology , 2004 July : 535-40
  • Schecter A, Lucier GW, Cunningham ML, Abdo KM, Blumenthal G, Silver AG, Melnick R, Portier C, Barr DB, Barr JR, Stanfill SB, Patterson DG Jr, Needham LL, Stopford W, Masten S, Mignogna J, Tung KC
    Human consumption of methyleugenol and its elimination from serum.
    Environmental health perspectives , 2004 May : 678-80
  • Connolly JP, Gruss J, Seto ML, Whelan MF, Ellenbogen R, Weiss A, Buchman SR, Cunningham ML
    Progressive postnatal craniosynostosis and increased intracranial pressure.
    Plastic and reconstructive surgery , 2004 Apr, 15 : 1313-23
  • Bialek P, Kern B, Yang X, Schrock M, Sosic D, Hong N, Wu H, Yu K, Ornitz DM, Olson EN, Justice MJ, Karsenty G
    A twist code determines the onset of osteoblast differentiation.
    Developmental cell , 2004 Mar. : 6(3)423-35
  • Cox TC, Sadlon TJ, Schwarz QP, Matthews CS, Wise PD, Cox LL, Bottomley SS, May BK
    The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.
    The international journal of biochemistry & cell biology , 2004 Feb. : 281-95
  • Ehret FW, Whelan MF, Ellenbogen RG, Cunningham ML, Gruss JS
    Differential diagnosis of the trapezoid-shaped head.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association , 2004 Jan. : 13-9
  • Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW
    Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
    Human genetics , 2003 Dec. : 68-76
  • Graham JM Jr, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC
    A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.
    American journal of medical genetics. Part A , 2003 Nov. 15 : 37-44
  • Sze RW, Parisi MT, Sidhu M, Paladin AM, Ngo AV, Seidel KD, Weinberger E, Ellenbogen RG, Gruss JS, Cunningham ML
    Ultrasound screening of the lambdoid suture in the child with posterior plagiocephaly.
    Pediatric radiology , 2003 Sept. : 630-6
  • Cunningham ML, Perry RJ, Eby PR, Gibson RL, Opheim KE, Manning SC
    Primary pulmonary dysgenesis in velocardiofacial syndrome: a second patient.
    American journal of medical genetics. Part A , 2003 Aug. 30 : 177-9
  • Yu K, Xu J, Liu Z, Sosic D, Shao J, Olson EN, Towler DA, Ornitz DM
    Conditional inactivation of FGF receptor 2 reveals an essential role for FGF signaling in the regulation of osteoblast function and bone growth.
    Development (Cambridge, England) , 2003 July : 130(13)3063-74
  • Jaeger A, Kapur R, Whelan M, Leung E, Cunningham M
    Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?
    Birth defects research. Part A, Clinical and molecular teratology , 2003 June : 460-6
  • Camp E, Hope R, Kortschak RD, Cox TC, Lardelli M
    Expression of three spalt (sal) gene homologues in zebrafish embryos.
    Development genes and evolution , 2003 Feb. : 35-43
  • oi D, Richardson JA, Yu K, Ornitz DM, Olson EN
    Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity.
    Cell , 2003 Jan. 24 : 112(2)169-80
  • Simon GE, Cunningham ML, Davis RL
    Outcomes of prenatal antidepressant exposure.
    The American journal of psychiatry , 2002 Dec. : 2055-61
  • Conway K, Gibson R, Perkins J, Cunningham ML
    Pulmonary agenesis: expansion of the VCFS phenotype.
    American journal of medical genetics , 2002 Nov. 15 : 89-92
  • Sze RW, Paladin AM, Lee S, Cunningham ML
    Hemifacial microsomia in pediatric patients: asymmetric abnormal development of the first and second branchial arches.
    AJR. American journal of roentgenology , 2002 June : 1523-30
  • Bonadio J, Cunningham ML
    Genetic approaches to craniofacial tissue repair.
    Annals of the New York Academy of Sciences , 2002 June : 48-57
  • Schwarz QP, Cox TC
    Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c.
    Genomics , 2002 Jan. : 51-7
  • Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M
    Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
    Proceedings of the National Academy of Sciences of the United States of America , 2001 June 19 : 98(13)7182-7
  • Yu K, Ornitz DM
    Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes.
    Proceedings of the National Academy of Sciences of the United States of America , 2001 Mar. 27 : 98(7)3641-3
  • Yu K, Herr AB, Waksman G, Ornitz DM
    Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
    Proceedings of the National Academy of Sciences of the United States of America , 2000 Dec. 19 : 97(26)14536-41