Publications

Peer-reviewed publications: 2002-2011

Hintz SR, Matern D, Strauss A, Bennett M, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL and Enns GM: Early neonatal diagnosis of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and trifunctional protein deficiencies. Mol Genet Metab 75: 120-127, 2002.

Lane PA, Buchanan GR, Desposito F, Pegelow CH, Vichinsky EP, Wethers DL, Woods, GM, Berkow RL, August CS, Corrigan J, Feig SA, Hutter J, Cunniff, C, Frias J, Kaye C, Moeschler T, Trotter T, Hoyme HE, Hanson JW, Lloyd-Puryear M, Moore CA and Schulman LP: American Academy of Pediatrics Section on Hematology/Oncology Committee on Genetics Policy Statement. Health Supervision for Children With Sickle Cell Disease. Pediatrics 109: 526-535, 2002.

Pletcher BA, Jewett EAB, Cull WL, Brotherton SE, Hoyme HE, Pan RJD and Mulvey HJ: The Practice of Clinical Genetics: A Survey of Practitioners. Genetics in Medicine 4:142-149, 2002.

Lower KM, Turner G, Bronwyn JK, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SL, Delatycki M, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CMA, de Vries B, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, and Gecz J: Mutations in a novel PHD finger gene, PHF6, cause Börjeson -Forssman-Lehmann syndrome. Nature Genetics 32:661-665, 2002.

Tsai YJ and Hoyme HE: Pharmacogenomics: The Future of Drug Therapy? Clinical Genetics 62:257-264, 2002.
Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the Adolescent. State of the Art Reviews: Adolescent Medicine. Philadelphia, Hanley and Belfus, Inc. Volume 13(2), 2002.

Manning MA and Hoyme HE: Klinefelter Syndrome: Diagnosis and Management in Adolescence, in Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the Adolescent. State of the Art Reviews: Adolescent Medicine 13:367-74, viii, 2002

Lin RL, Cherry AM, Bangs CD and Hoyme HE: FISHing for Answers: The Use of Molecular Cytogenetic Techniques in Adolescent Medical Practice, in Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the Adolescent. State of the Art Reviews: Adolescent Medicine 13:305-13, vi, 2002.

Olney RS and Hoyme HE: (Letter). Response regarding: Limb/pelvis-hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection. Am J Med Genet 111:458, 2002.
Lin RL, Cherry AM, Bangs CD and Hoyme HE: FISHing for answers: The use of molecular cytogenetic techniques in neonatology. Neoreviews 4: e94-e98, 2003.

Casper RC, Fleisher BE, Lee JC, Gilles A, Debattista A, and Hoyme HE: Follow-up of children of mothers with major depressive disorder, exposed or not exposed to antidepressant drugs during pregnancy. J Pediatrics 142:402-408, 2003.

Aylsworth A, Graham JM Jr, Hall JG, Hoyme HE, Jones KL, and Stevenson RE: Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Am J Med Genet. 119:93, 2003.

Aylsworth A, Graham JM Jr, Hall JG, Hoyme HE, Jones KL, and Stevenson RE: Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Pediatr Radiol 33:146, 2003.

Holve S, Friedman BD, Hoyme HE, Tarby TJ, Johnstone S, Erickson RP, Clericuzio CL, and Cunniff C: Athabascan brainstem dysgenesis syndrome. Am J Med Genet 120A:169-173, 2003.

Adam MP, Clericuzio CL, Manning MA, Beck AE, Kwan A, Enns GM and Hoyme HE:
Fetal outcome in failed first trimester medical abortion: Report of four cases of methotrexate/misoprostol embryopathy. Am J Med Genet 123A: 72-78, 2003.

Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme HE, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E: Toriello-Carey syndrome: Delineation and review. Am J Med Genet 123A: 84-90, 2003.

Turner G, Lower KM, White SL, Delatycki M, Lampe AK, Wright M, Clayton Smith J, Kerr B, Schelley S, Hoyme HE, DeVries BBA, Kleefstra T, Grompe M, Cox B, Gecz J and Partington M: The clinical picture of the Börjeson–Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet 65: 226-232, 2004.

Manning MA, Cunniff CM, Colby CE, El-Sayed YY and Hoyme HE: Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet 125A: 240-249, 2004.

Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH: Rare autosomal recessive cardiac valvular form of Ehlers-Danlos Syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 74: 917-930, 2004.

May PA, Gossage JP, White-Country M, Goodhart K, DeCoteau S, Trujillo P and Hoyme HE: Alcohol consumption and other maternal risk factors for fetal alcohol syndrome among three distinct samples of women before, during, and after pregnancy: The risk is relative. Am J Med Genet 127C:.10-20, 2004

Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM and Hoyme HE: Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114: 451-457, 2004.

Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, Buckley DG, Miller JH, Aragon AS, Khaole N, Viljoen DL, Jones KL and Robinson LK: A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute of Medicine criteria. Pediatrics 115: 39-47, 2005.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE and Sherr E: Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet 133A:197-201, 2005.

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC and Biesecker LG.: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609-22, 2005.

Beck AE, Hudgins L and Hoyme HE: Autosomal dominant microtia and ocular coloboma: New syndrome or extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet 134:359-62, 2005.

Hoyme HE: (Letter). Response regarding: A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute of Medicine criteria. Pediatrics 115:1787-1788, 2005.

Wyatt JW, Frias JL, Hoyme HE, Jovanovic L, Kaaia R, Brown F, Garg S, Lee-Parritz A, Seely, EW, Kerr L, Mattoo V and Tan M: Congenital anomaly rate in infants of mothers with pre-gestational diabetes who used insulin lispro during pregnancy. Diabetic Medicine 22:803-807, 2005.

Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE, Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet 137A:117–124, 2005.

Lin RJ, Chen KC, Cherry AM, Hoyme HE, Lyons M and Hudgins L: Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet 136A(2):162-168, 2005.

Adam MP, Chueh J, El-Sayed YY, Stenzel A, Vogel H, Weaver DD and Hoyme HE: Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: Report of two cases and review of the literature. Prenat Diagn 25(12):1088-96, 2005.

Viljoen DL, Gossage JP, Adnams C, Jones KL, Robinson LK, Hoyme HE, Snell C, Khaole N, Asante KK, Findlay R, Quinton B, Brooke LE and May PA: The epidemiological characteristics of fetal alcohol syndrome in a South African community of the Western Cape Province: Findings from a second active case ascertainment study. J Studies Alcohol 66(5):593-604, 2005.

Hoyme HE: (Letter) Refining the diagnostic criteria of FASD. J FAS Int 3:e18, 2005.

Spagnolo PA and Hoyme HE: Fetal alcohol spectrum disorders: Practical clinical evaluation and diagnosis. Ital J Pediatr 31:244-253, 2005.

Shieh JTC, Hudgins L, Cherry AM, Shen Z and Hoyme HE: Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Am J Med Genet 140(2):170-173, 2006.

Autti-Rämö I, Fagerlund Å, Ervalahti N, Korkman M and Hoyme HE: Fetal alcohol spectrum disorders in Finland: Clinical delineation of 77 older children and adolescents. Am J Med Genet A 140(2):137-43, 2006.

McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, Hoyme HE, Yang SP, Adam MP, Zackai EP and Sullivan KE: Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A 140:906-9, 2006.

Shieh JTC, Aradhya S, Manning MA, Cherry AM, Brumblay J, Seaver LH, Salpietro CD, Bernardini L, Novelli A, Dallapiccola B and Hoyme HE: Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet A 140:1267-73, 2006.

May PA, Fiorentino D, Gossage JP, Kalberg WO, Hoyme HE, Robinson LK, Coriale G, Jones KL, del Campo M, Tarani L, Romeo M, Kodituwakku PW, Deiana L, Buckley D and Ceccanti M: The epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools. Alcohol Clin Exp Res 30:1562-1575, 2006.

Shieh JTC, Swidler P, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Martignetti JA, Ramirez MCM, Sandborg C, Slavotinek A, and Hoyme HE: Expanding the clinical phenotype of systemic hyalinosis: A distinctive rheumatologic disorder characterized by mutations in the capillary morphogenesis-2 (CMG2) gene. Pediatrics 118(5):e1485-92, 2006.

Kalberg WO, Provost B, Tollison SJ, Tabachnick BG, Robinson LK, Hoyme HE, Trujillo PM, Buckley D, Aragon AS, and May PA: Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure. Alcohol Clin Exp Res 30(12):2037-45, 2006.

Khuu PT, Duncan KO, Kwan A, Hoyme HE and Bruckner AL: Unilateral aquagenic wrinkling of the palms associated with aspirin intake. Arch Dermatol 142:1661-62, 2006.

Manning MA and Hoyme HE: Fetal alcohol spectrum disorders: A practical clinical approach to diagnosis. Neurosci Biobehav Rev. 31(2):230-8, 2007.

Ceccanti M, Alessandra Spagnolo P, Tarani L, Attilia ML, Chessa L, Mancinelli R, Stegagno M, Sasso GF, Romeo M, Jones KL, Robinson LK, Del Campo M, Gossage JP, May PA and Hoyme HE: Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: Comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention. Neurosci Biobehav Rev. 31(2):270-7, 2007.

May PA, Gossage JP, Marais AS, Adnams CM, Hoyme HE, Jones KL, Robinson LK, Khaole NC, Snell C, Kalberg WO, Hendricks L, Brooke L, Stellavato C and Viljoen DL: The epidemiology of fetal alcohol syndrome and partial FAS in a South African community. Drug Alcohol Depend 88(2-3):259-71, 2007.

Ervalahti N, Korkman M, Fagerlund Å, Autti-Rämö I, Loimu L, and Hoyme HE: Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders. Am J Med Genet 143(24):2916-23, 2007.

Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, and Graham JM Jr.: Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients. Am J Med Genet 143(24):2981-3008, 2007.

Cusmano-Ozog K, Manning MA, and Hoyme HE.: 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet 145(4):393-8, 2007.

Moore E, Ward R, Flury Wetherill L, Rogers JL, Autti-Rämö I, Jacobson S, Mattson S, Jones KL, Robinson LK, Hoyme HE and Foroud T: Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populations. Alcohol Clin Exp Res 31(10):1707-13, 2007.

Jacobson SW, Stanton ME, Molteno CD, Burden MJ, Fuller DS, Hoyme HE, Robinson LK, Khaole N, and Jacobson JL: Impaired eyeblink conditioning in children with fetal alcohol syndrome. Alcohol Clin Exp Res 32(2):365-72, 2008.

Battaglia A, Hoyme HE, Dallapiccola B, Novelli A, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, and Carey JC: Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121(2):404-10, 2008.

Adam MP, Kobori JA, Cusmano-Ozog K, Chen KM, and Hoyme HE: Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A new overgrowth syndrome? Am J Med Genet 146A(5):543-547, 2008.

Fang S, McLaughlin J, Fang J, Huang J, Autti-Rämö I, Fagerlund A, Jacobson SW, Robinson LK, Hoyme HE, Mattson SN, Riley E, Zhou F, Ward R, Moore ES, Foroud T; Collaborative Initiative on Fetal Alcohol Spectrum Disorders. Automated diagnosis of fetal alcohol syndrome using 3D facial image analysis. Orthod Craniofac Res 11(3):162-71, 2008.

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A 146A(15):2008-12, 2008.

Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Bakhireva LN, Prewitt LM, Chambers CD. Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.. Birth Defects Res A Clin Mol Teratol. 85(8):695-9, 2009

Mutsvangwa T, Smit J, Hoyme HE, Kalberg W, Viljoen D, Meintjes E, Douglas T Design, construction and testing of a stereo-photogrammetric tool for the diagnosis of fetal alcohol syndrome in infants. IEEE Trans Med Imaging. 28(9):1448-58, 2009.

Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G. Elements of morphology: standard terminology for the head and face. Am J Med Genet A 149A(1):6-28, 2009.

Dodge NC, Jacobson SW, Molteno CD, Meintjes EM, Bangalore S, Diwadkar V, Hoyme HE, Robinson LK, Khaole N, Avison MJ, and Jacobson JL: Prenatal alcohol exposure and efficiency of interhemispheric transfer of tactile information: Detroit and Cape Town findings. Alcohol Clin Exp Res. 33(9):1628-37, 2009.

Burden MJ, Andrew C, Saint-Amour D, Meintjes EM, Molteno CD, Hoyme HE, Robinson, LK, Khalole N, Nelson CA Jacobson JL and Jacobson SW: The effects of fetal alcohol syndrome on response execution and inhibition: An event-related potential study. Alcohol Clin Exp Res. 33(11):1994-2004, 2009.

May PA, Gossage JP, Kalberg WO, Robinson LK, Buckley D, Manning M and Hoyme HE: Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on in-school studies. Developmental Disabilities Res Rev. 15(3):176-92, 2009.

Klingenberg CP, Wetherill L, Rogers J, Moore E, Ward R, Autti-Rämö I, Fagerlund A, Jacobson SW, Robinson LK, Hoyme HE, Mattson SN, Li TK, Riley EP, Foroud T; the CIFASD Consortium. Prenatal alcohol exposure alters the patterns of facial asymmetry. Alcohol [Epub ahead of print], 2010.

Meintjes EM, Jacobson JL, Molteno CD, Gatenby JC, Warton C, Cannistraci CJ, Hoyme HE, Robinson LK, Khaole N, Gore JC, Jacobson SW. An FMRI study of number processing in children with fetal alcohol syndrome. Alcohol Clin Exp Res. 34(8):1450-64, 2010.

May PA, Gossage JP, Smith M, Tabachnick BG, Robinson LK, Manning M, Cecanti M, Jones KL, Khaole N, Buckley D, Kalberg WO, Trujillo PM, Hoyme HE. Population differences in dysmorphic features among children with fetal alcohol spectrum disorders. J Dev Behav Pediatr. 31(4):304-16, 2010.

Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Prewitt LM, Chambers CD. Fetal alcohol spectrum disorders: Extending the range of structural defects. Am J Med Genet A. 152A(11):2731-5, 2010.

Wan J, Shen L, Fang S, McLaughlin J, Autti-Rämö I, Fagerlund A, Riley E, Hoyme HE, Moore ES, Foroud T; Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD). A framework for 3D analysis of facial morphology in fetal alcohol syndrome. Lect Notes Comput Sci. 6326:118-127, 2010.

Jacobson SW, Stanton ME, Dodge NC, Pienaar M, Fuller DS, Molteno CD, Meintjes EM, Hoyme HE, Robinson LK, Khaole N, Jacobson JL. Impaired delay and trace eyeblink conditioning in school-age children with fetal alcohol syndrome. Alcohol Clin Exp Res. 35(2):250-64, 2011.

Fagerlund Å, Autti-Rämö I, Hoyme HE, Mattson SN, and Korkman M: Risk factors for behavioural problems in children with foetal alcohol spectrum disorders. Acta Paediatr. 100(11):1481-8, 2011.

May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning M, Buckley D, Hoyme HE. Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome. Drug Alcohol Depend. 119(1-2):18-27, 2011.

May PA, Fiorentino D, Coriale G, Kalberg WO, Hoyme HE, Aragón AS, Buckley D, Stellavato C, Gossage JP, Robinson LK, Jones KL, Manning M, Ceccanti M. Prevalence of children with severe fetal alcohol spectrum disorders in communities near Rome, Italy: new estimated rates are higher than previous estimates. Int J Environ Res Public Health. 8(6):2331-51, 2011.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Ectopia lentis as the presenting and primary feature in Marfan syndrome. Am J Med Genet A. 155A(11):2661-8, 2011.
 

Publications

Peer-reviewed publications: 2002-2011

Hintz SR, Matern D, Strauss A, Bennett M, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL and Enns GM: Early neonatal diagnosis of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and trifunctional protein deficiencies. Mol Genet Metab 75: 120-127, 2002.

Lane PA, Buchanan GR, Desposito F, Pegelow CH, Vichinsky EP, Wethers DL, Woods, GM, Berkow RL, August CS, Corrigan J, Feig SA, Hutter J, Cunniff, C, Frias J, Kaye C, Moeschler T, Trotter T, Hoyme HE, Hanson JW, Lloyd-Puryear M, Moore CA and Schulman LP: American Academy of Pediatrics Section on Hematology/Oncology Committee on Genetics Policy Statement. Health Supervision for Children With Sickle Cell Disease. Pediatrics 109: 526-535, 2002.

Pletcher BA, Jewett EAB, Cull WL, Brotherton SE, Hoyme HE, Pan RJD and Mulvey HJ: The Practice of Clinical Genetics: A Survey of Practitioners. Genetics in Medicine 4:142-149, 2002.

Lower KM, Turner G, Bronwyn JK, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SL, Delatycki M, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CMA, de Vries B, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, and Gecz J: Mutations in a novel PHD finger gene, PHF6, cause Börjeson -Forssman-Lehmann syndrome. Nature Genetics 32:661-665, 2002.

Tsai YJ and Hoyme HE: Pharmacogenomics: The Future of Drug Therapy? Clinical Genetics 62:257-264, 2002.
Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the Adolescent. State of the Art Reviews: Adolescent Medicine. Philadelphia, Hanley and Belfus, Inc. Volume 13(2), 2002.

Manning MA and Hoyme HE: Klinefelter Syndrome: Diagnosis and Management in Adolescence, in Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the Adolescent. State of the Art Reviews: Adolescent Medicine 13:367-74, viii, 2002

Lin RL, Cherry AM, Bangs CD and Hoyme HE: FISHing for Answers: The Use of Molecular Cytogenetic Techniques in Adolescent Medical Practice, in Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the Adolescent. State of the Art Reviews: Adolescent Medicine 13:305-13, vi, 2002.

Olney RS and Hoyme HE: (Letter). Response regarding: Limb/pelvis-hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection. Am J Med Genet 111:458, 2002.
Lin RL, Cherry AM, Bangs CD and Hoyme HE: FISHing for answers: The use of molecular cytogenetic techniques in neonatology. Neoreviews 4: e94-e98, 2003.

Casper RC, Fleisher BE, Lee JC, Gilles A, Debattista A, and Hoyme HE: Follow-up of children of mothers with major depressive disorder, exposed or not exposed to antidepressant drugs during pregnancy. J Pediatrics 142:402-408, 2003.

Aylsworth A, Graham JM Jr, Hall JG, Hoyme HE, Jones KL, and Stevenson RE: Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Am J Med Genet. 119:93, 2003.

Aylsworth A, Graham JM Jr, Hall JG, Hoyme HE, Jones KL, and Stevenson RE: Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Pediatr Radiol 33:146, 2003.

Holve S, Friedman BD, Hoyme HE, Tarby TJ, Johnstone S, Erickson RP, Clericuzio CL, and Cunniff C: Athabascan brainstem dysgenesis syndrome. Am J Med Genet 120A:169-173, 2003.

Adam MP, Clericuzio CL, Manning MA, Beck AE, Kwan A, Enns GM and Hoyme HE:
Fetal outcome in failed first trimester medical abortion: Report of four cases of methotrexate/misoprostol embryopathy. Am J Med Genet 123A: 72-78, 2003.

Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme HE, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E: Toriello-Carey syndrome: Delineation and review. Am J Med Genet 123A: 84-90, 2003.

Turner G, Lower KM, White SL, Delatycki M, Lampe AK, Wright M, Clayton Smith J, Kerr B, Schelley S, Hoyme HE, DeVries BBA, Kleefstra T, Grompe M, Cox B, Gecz J and Partington M: The clinical picture of the Börjeson–Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet 65: 226-232, 2004.

Manning MA, Cunniff CM, Colby CE, El-Sayed YY and Hoyme HE: Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet 125A: 240-249, 2004.

Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH: Rare autosomal recessive cardiac valvular form of Ehlers-Danlos Syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 74: 917-930, 2004.

May PA, Gossage JP, White-Country M, Goodhart K, DeCoteau S, Trujillo P and Hoyme HE: Alcohol consumption and other maternal risk factors for fetal alcohol syndrome among three distinct samples of women before, during, and after pregnancy: The risk is relative. Am J Med Genet 127C:.10-20, 2004

Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM and Hoyme HE: Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114: 451-457, 2004.

Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, Buckley DG, Miller JH, Aragon AS, Khaole N, Viljoen DL, Jones KL and Robinson LK: A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute of Medicine criteria. Pediatrics 115: 39-47, 2005.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE and Sherr E: Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet 133A:197-201, 2005.

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC and Biesecker LG.: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609-22, 2005.

Beck AE, Hudgins L and Hoyme HE: Autosomal dominant microtia and ocular coloboma: New syndrome or extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet 134:359-62, 2005.

Hoyme HE: (Letter). Response regarding: A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute of Medicine criteria. Pediatrics 115:1787-1788, 2005.

Wyatt JW, Frias JL, Hoyme HE, Jovanovic L, Kaaia R, Brown F, Garg S, Lee-Parritz A, Seely, EW, Kerr L, Mattoo V and Tan M: Congenital anomaly rate in infants of mothers with pre-gestational diabetes who used insulin lispro during pregnancy. Diabetic Medicine 22:803-807, 2005.

Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE, Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet 137A:117–124, 2005.

Lin RJ, Chen KC, Cherry AM, Hoyme HE, Lyons M and Hudgins L: Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet 136A(2):162-168, 2005.

Adam MP, Chueh J, El-Sayed YY, Stenzel A, Vogel H, Weaver DD and Hoyme HE: Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: Report of two cases and review of the literature. Prenat Diagn 25(12):1088-96, 2005.

Viljoen DL, Gossage JP, Adnams C, Jones KL, Robinson LK, Hoyme HE, Snell C, Khaole N, Asante KK, Findlay R, Quinton B, Brooke LE and May PA: The epidemiological characteristics of fetal alcohol syndrome in a South African community of the Western Cape Province: Findings from a second active case ascertainment study. J Studies Alcohol 66(5):593-604, 2005.

Hoyme HE: (Letter) Refining the diagnostic criteria of FASD. J FAS Int 3:e18, 2005.

Spagnolo PA and Hoyme HE: Fetal alcohol spectrum disorders: Practical clinical evaluation and diagnosis. Ital J Pediatr 31:244-253, 2005.

Shieh JTC, Hudgins L, Cherry AM, Shen Z and Hoyme HE: Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Am J Med Genet 140(2):170-173, 2006.

Autti-Rämö I, Fagerlund Å, Ervalahti N, Korkman M and Hoyme HE: Fetal alcohol spectrum disorders in Finland: Clinical delineation of 77 older children and adolescents. Am J Med Genet A 140(2):137-43, 2006.

McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, Hoyme HE, Yang SP, Adam MP, Zackai EP and Sullivan KE: Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A 140:906-9, 2006.

Shieh JTC, Aradhya S, Manning MA, Cherry AM, Brumblay J, Seaver LH, Salpietro CD, Bernardini L, Novelli A, Dallapiccola B and Hoyme HE: Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet A 140:1267-73, 2006.

May PA, Fiorentino D, Gossage JP, Kalberg WO, Hoyme HE, Robinson LK, Coriale G, Jones KL, del Campo M, Tarani L, Romeo M, Kodituwakku PW, Deiana L, Buckley D and Ceccanti M: The epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools. Alcohol Clin Exp Res 30:1562-1575, 2006.

Shieh JTC, Swidler P, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Martignetti JA, Ramirez MCM, Sandborg C, Slavotinek A, and Hoyme HE: Expanding the clinical phenotype of systemic hyalinosis: A distinctive rheumatologic disorder characterized by mutations in the capillary morphogenesis-2 (CMG2) gene. Pediatrics 118(5):e1485-92, 2006.

Kalberg WO, Provost B, Tollison SJ, Tabachnick BG, Robinson LK, Hoyme HE, Trujillo PM, Buckley D, Aragon AS, and May PA: Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure. Alcohol Clin Exp Res 30(12):2037-45, 2006.

Khuu PT, Duncan KO, Kwan A, Hoyme HE and Bruckner AL: Unilateral aquagenic wrinkling of the palms associated with aspirin intake. Arch Dermatol 142:1661-62, 2006.

Manning MA and Hoyme HE: Fetal alcohol spectrum disorders: A practical clinical approach to diagnosis. Neurosci Biobehav Rev. 31(2):230-8, 2007.

Ceccanti M, Alessandra Spagnolo P, Tarani L, Attilia ML, Chessa L, Mancinelli R, Stegagno M, Sasso GF, Romeo M, Jones KL, Robinson LK, Del Campo M, Gossage JP, May PA and Hoyme HE: Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: Comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention. Neurosci Biobehav Rev. 31(2):270-7, 2007.

May PA, Gossage JP, Marais AS, Adnams CM, Hoyme HE, Jones KL, Robinson LK, Khaole NC, Snell C, Kalberg WO, Hendricks L, Brooke L, Stellavato C and Viljoen DL: The epidemiology of fetal alcohol syndrome and partial FAS in a South African community. Drug Alcohol Depend 88(2-3):259-71, 2007.

Ervalahti N, Korkman M, Fagerlund Å, Autti-Rämö I, Loimu L, and Hoyme HE: Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders. Am J Med Genet 143(24):2916-23, 2007.

Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, and Graham JM Jr.: Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients. Am J Med Genet 143(24):2981-3008, 2007.

Cusmano-Ozog K, Manning MA, and Hoyme HE.: 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet 145(4):393-8, 2007.

Moore E, Ward R, Flury Wetherill L, Rogers JL, Autti-Rämö I, Jacobson S, Mattson S, Jones KL, Robinson LK, Hoyme HE and Foroud T: Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populations. Alcohol Clin Exp Res 31(10):1707-13, 2007.

Jacobson SW, Stanton ME, Molteno CD, Burden MJ, Fuller DS, Hoyme HE, Robinson LK, Khaole N, and Jacobson JL: Impaired eyeblink conditioning in children with fetal alcohol syndrome. Alcohol Clin Exp Res 32(2):365-72, 2008.

Battaglia A, Hoyme HE, Dallapiccola B, Novelli A, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM, and Carey JC: Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121(2):404-10, 2008.

Adam MP, Kobori JA, Cusmano-Ozog K, Chen KM, and Hoyme HE: Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A new overgrowth syndrome? Am J Med Genet 146A(5):543-547, 2008.

Fang S, McLaughlin J, Fang J, Huang J, Autti-Rämö I, Fagerlund A, Jacobson SW, Robinson LK, Hoyme HE, Mattson SN, Riley E, Zhou F, Ward R, Moore ES, Foroud T; Collaborative Initiative on Fetal Alcohol Spectrum Disorders. Automated diagnosis of fetal alcohol syndrome using 3D facial image analysis. Orthod Craniofac Res 11(3):162-71, 2008.

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A 146A(15):2008-12, 2008.

Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Bakhireva LN, Prewitt LM, Chambers CD. Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.. Birth Defects Res A Clin Mol Teratol. 85(8):695-9, 2009

Mutsvangwa T, Smit J, Hoyme HE, Kalberg W, Viljoen D, Meintjes E, Douglas T Design, construction and testing of a stereo-photogrammetric tool for the diagnosis of fetal alcohol syndrome in infants. IEEE Trans Med Imaging. 28(9):1448-58, 2009.

Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G. Elements of morphology: standard terminology for the head and face. Am J Med Genet A 149A(1):6-28, 2009.

Dodge NC, Jacobson SW, Molteno CD, Meintjes EM, Bangalore S, Diwadkar V, Hoyme HE, Robinson LK, Khaole N, Avison MJ, and Jacobson JL: Prenatal alcohol exposure and efficiency of interhemispheric transfer of tactile information: Detroit and Cape Town findings. Alcohol Clin Exp Res. 33(9):1628-37, 2009.

Burden MJ, Andrew C, Saint-Amour D, Meintjes EM, Molteno CD, Hoyme HE, Robinson, LK, Khalole N, Nelson CA Jacobson JL and Jacobson SW: The effects of fetal alcohol syndrome on response execution and inhibition: An event-related potential study. Alcohol Clin Exp Res. 33(11):1994-2004, 2009.

May PA, Gossage JP, Kalberg WO, Robinson LK, Buckley D, Manning M and Hoyme HE: Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on in-school studies. Developmental Disabilities Res Rev. 15(3):176-92, 2009.

Klingenberg CP, Wetherill L, Rogers J, Moore E, Ward R, Autti-Rämö I, Fagerlund A, Jacobson SW, Robinson LK, Hoyme HE, Mattson SN, Li TK, Riley EP, Foroud T; the CIFASD Consortium. Prenatal alcohol exposure alters the patterns of facial asymmetry. Alcohol [Epub ahead of print], 2010.

Meintjes EM, Jacobson JL, Molteno CD, Gatenby JC, Warton C, Cannistraci CJ, Hoyme HE, Robinson LK, Khaole N, Gore JC, Jacobson SW. An FMRI study of number processing in children with fetal alcohol syndrome. Alcohol Clin Exp Res. 34(8):1450-64, 2010.

May PA, Gossage JP, Smith M, Tabachnick BG, Robinson LK, Manning M, Cecanti M, Jones KL, Khaole N, Buckley D, Kalberg WO, Trujillo PM, Hoyme HE. Population differences in dysmorphic features among children with fetal alcohol spectrum disorders. J Dev Behav Pediatr. 31(4):304-16, 2010.

Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Prewitt LM, Chambers CD. Fetal alcohol spectrum disorders: Extending the range of structural defects. Am J Med Genet A. 152A(11):2731-5, 2010.

Wan J, Shen L, Fang S, McLaughlin J, Autti-Rämö I, Fagerlund A, Riley E, Hoyme HE, Moore ES, Foroud T; Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD). A framework for 3D analysis of facial morphology in fetal alcohol syndrome. Lect Notes Comput Sci. 6326:118-127, 2010.

Jacobson SW, Stanton ME, Dodge NC, Pienaar M, Fuller DS, Molteno CD, Meintjes EM, Hoyme HE, Robinson LK, Khaole N, Jacobson JL. Impaired delay and trace eyeblink conditioning in school-age children with fetal alcohol syndrome. Alcohol Clin Exp Res. 35(2):250-64, 2011.

Fagerlund Å, Autti-Rämö I, Hoyme HE, Mattson SN, and Korkman M: Risk factors for behavioural problems in children with foetal alcohol spectrum disorders. Acta Paediatr. 100(11):1481-8, 2011.

May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning M, Buckley D, Hoyme HE. Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome. Drug Alcohol Depend. 119(1-2):18-27, 2011.

May PA, Fiorentino D, Coriale G, Kalberg WO, Hoyme HE, Aragón AS, Buckley D, Stellavato C, Gossage JP, Robinson LK, Jones KL, Manning M, Ceccanti M. Prevalence of children with severe fetal alcohol spectrum disorders in communities near Rome, Italy: new estimated rates are higher than previous estimates. Int J Environ Res Public Health. 8(6):2331-51, 2011.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Ectopia lentis as the presenting and primary feature in Marfan syndrome. Am J Med Genet A. 155A(11):2661-8, 2011.