Research Publications
Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal molecular diagnosis of Tuberous sclerosis complex. AM J OBSTET GYNECOL. 2009 Mar;200(3):321.
Quadrelli R, Quadrelli A, Milunsky A, Zou YS, Huang X-L, Viera E, Mechoso , Bellini S, Costabel M, Vaglio A. A fourteen year follow-up of a case detected prenatally of partial trisomy 13q21.21-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. GENET TEST MOL BIOMARKERS. 2009 Jun;13(3):387-393.
Milunsky A. Epidemiology and Prevention of Neural Tube Defects. In: Chervenak F. (Ed.) Fetal and Neonatal Neurology and Neurosurgery, 4th Ed., Churchill Livingstone 2009.
Milunsky A, J. Milunsky. Preconception, Prenatal and Perinatal. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010.
Milunsky A. Amniotic Fluid. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010.
Milunsky A, Canick J. Maternal Serum Screening for Neural Tube and Other Defects. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010.
Vaglio A, Milunsky A, Huang X-L, Mechoso B, Quadrelli A, Pagano S, Bellini S, Costabel M, Quadrelli R. Clinical, cytogenetic and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. GENET TEST MOL BIOMARKERS. 2010 Feb;14(1):57-65.
Flynn M, Zou Y, Milunsky A. Whole Gene Duplication of the PQBP1 Gene in Syndrome Resembling Renpenning. AM J MED GENET Part A 2010;155:142.
Al-Owain M, Kaya N, Al-Zaiden H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran R, Milunsky A. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. CLIN GENET. 2010;May 7, 1-8.
Dauber A, Hirschhorn J, Picker J, Maher T, Milunsky A. Delayed Puberty due to a Novel Mutation in CHD7 Causing CHARGE Syndrome. PEDIATRICS 2010;126(6):1.
Skagen PS, Horn T, Milunsky A, Kruse, HA, Staergaard B, Nicolaisen T. Patella alta is associated with abnormal type II collagen hetero-fibrils and matrix accumulation in rough Endoplasmic Reticulum Scandinavian Journal of Medicine & Science in Sports (In Press)
Pilozzi-Edmonds L, Maher TA, Milunsky A, Al-Thihli K, Braverman N, Alfares A. Fraternal twins with Aarskog-Scott Syndrome, a Case with Germline Mosaicism. (Submitted)
Milunsky A, Ito M, Maher T, Flynn M, Milunsky JM. Prenatal molecular diagnosis of Tuberous Sclerosis. Am J Obstet Gynecol 2009:321-324;2009.
Zou Y, Huang XL, Ito M, Newton S, Milunsky JM. Further delineation of the critical region for the 9p-duplication syndrome. Am J Med Genet 149A:272-276;2009.
Zou Y, Milunsky JM. Developmental Disability and Hypomelanosis of Ito in a Female with 7.3 Mb de Novo Duplication of Xp11.3-p11.4 and Random X Inactivation. Am J Med Genet A. 149A (11):2573-7. 2009
Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher T, Tager-Flusberg H, Bolliinger M, Carter A, Boucard A, Powell C, Sudhof T. A Neuroligin-4 Missense Mutation Associated With Autism Impairs Neuroligin-4 Folding and ER Export. Journal of Neuroscience. 29(35):10843-10854; 2009.
Zou Y, Newton S, Milunsky JM. A complex maternal rearrangement results in a Pure 10.9 Mb Duplication of the 5q13.1-q14.1 Region in an Affected Son. Am J Med Genet A. 152A (2):498-503. 2010
Shen Y, Dies KA, Holm IA, Sobeih M, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Bridgemohan C, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Milunsky JM, Rappaport L, Wu BL, Miller DT. Clinical Genetic Testing for Patients with Autism Spectrum Disorders. Pediatrics published online March 15, 2010. DOI: 10.1542/peds.2009-1684
Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM. Novel de novo PCDH19 Mutations in Three Unrelated Females with Epilepsy Female Restricted Mental Retardation Syndrome. Am J Med Genet published Sept. 9, 2010.
Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gemmill G, Drabkin H, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Non-Disjunction: The t (8;22)(q24.13;q11.21). Am J Human Genet. 87:1-10. 2010
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka J, Krebs M-O,
Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L,
Mottron L, Beauchamp MH, Rouleau GA, and Michaud JL. De novo SYNGAP1
mutations in non-syndromic intellectual disability and autism. Biology
Psychiatry 2010.
Leon E, Zou Y, Milunsky JM. Mosaic Down Syndrome In A Patient With Low-Level Mosaicism Detected By Microarray. Am J Med Genet A. 2010 Dec;152A(12):3154-6.
Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chenier 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, ReardonW, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. 2011.Genotype–phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet Part A 155:22–32.
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL. De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism. Biol Psychiatry. 2011 Jan 14.
Leon E, Jamal SM, Zou Y, Milunsky JM. Partial Trisomy 8 Mosaicism Due To A Pseudoisodicentric Chromosome 8. (Submitted).
Sebastiani P, Solovieff N, Hartley SW, Milton JN, Riva A, Dworkis DA, Melista E, Klings ES, Garrett ME, Telen MJ, Ashley-Koch A, Baldwin CT, Steinberg MH. Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. Am J Hematol. 2010;85:29-35.
Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH. .Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster. Blood. 2010;115:1815-22.
Sebastiani P, Montano M, Puca A, Solovieff N, Kojima T, Wang MC, Melista E, Meltzer M, Fischer SE, Andersen S, Hartley SH, Sedgewick A, Arai Y, Bergman A, Barzilai N, Terry DF, Riva A, Anselmi CV, Malovini A, Kitamoto A, Sawabe M, Arai T, Gondo Y, Steinberg MH, Hirose N, Atzmon G, Ruvkun G, Baldwin CT, Perls TT. RNA editing genes associated with extreme old age in humans and with lifespan in C. elegans. PLoS One. ;4:e8210.
Perneczky R, Wagenpfeil S, Lunetta KL, Cupples LA, Green RC, Decarli C, Farrer LA, Kurz A; MIRAGE Study Group. Head circumference, atrophy, and cognition: implications for brain reserve in Alzheimer disease. Neurology. 2010;75:137-42.
Sebastiani P, Solovieff N, Puca A, Hartley SW, Melista E, Andersen S, Dworkis DA, Wilk JB, Myers RH, Steinberg MH, Montano M, Baldwin CT, Perls TT. Genetic Signatures of Exceptional Longevity in Humans. Science. 2010 Jul 21. [Epub ahead of print]
Solovieff N, Hartley SW, Baldwin CT, Perls TT, Steinberg MH, Sebastiani P. Clustering by genetic ancestry using genome-wide SNP data. BMC Genet. 2010;11:108.
Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P; Alzheimer’s Disease Genetics Consortium, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol. 2010;67:1473-84.
Erlich PM, Lunetta KL, Cupples LA, Abraham CR, Green RC, Baldwin CT, Farrer LA. Serum paraoxonase activity is associated with variants in the PON gene cluster and risk of Alzheimer disease. Neurobiol Aging. 2010 Oct 25. [Epub ahead of print]
Sherva R, Baldwin CT, Inzelberg R, Vardarajan B, Cupples LA, Lunetta K, Bowirrat A, Naj A, Pericak-Vance M, Friedland RP, Farrer LA. Identification of Novel Candidate Genes for Alzheimer’s Disease by Autozygosity Mapping using Genome Wide SNP Data from an Israeli-Arab Community. J Alzheimers Dis. 2011 23:349-59
Cuenco KT, Friedland R, Baldwin CT, Guo J, Vardarajan B, Lunetta KL, Cupples LA, Green RC, Decarli C, Farrer LA; for the MIRAGE Study Group. Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families. Neurobiol Aging. 2011;32:249-56.
Dworkis D, Klings E, Solovieff N, Li G, Milton J, Hartley S, Melista E, Parente J, Sebastiani P, Steinberg M, Baldwin C. Severe Sickle Cell Anemia is Associated with Increased Plasma Levels of TNF-R1 and V CAM-1. Am J Hematology, in press
Naj A, Jun G, Beecham, G, San Wang L, Narayan Vardarajan B, Buros J, Gallins P, Buxbaum J, Jarvik G, Crane P, Larson E, Bird T, Boeve B, Graff-Radford N, De Jager P, Evans D, Schneider J, Carrasquillo M, Ertekin-Taner N, Younkin S, Cruchaga C, Kauwe J, Nowotny P, Kramer P, Hardy J, Huentelman M, Myers A, Barmada M, Demirci U, Baldwin C, Green R, Rogaeva E, St George-Hyslop P, Alzheimer Disease Genetics Consortium, Cantwell , Dombroski B, Beekly D, Lunetta K, Martin E, Kamboh I, Saykin A, Reiman E, Bennett D, Morris J, Montine T, Goate A, Blacker D, Tsuang D, Hakonarson H, Kukull W, Foroud T, Haines J, Mayeux R, Pericak-Vance M, Farrer L, Schellenberg G. Genome-wide Association Study of Late-Onset Alzheimer Disease identifies disease associated variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1. in press, Nature Genetics
