Biallelic mutations in Huntington disease: A new case with just one affected parent, review of the literature and terminology

Authors: Uhlmann, W. R., Peaherrera, M. S., Robinson, W. P., Milunsky, J. M., Nicholson, J. M., Albin, R. L.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 167(5):1152-1160

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Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability

Authors: Flore, L. A., Milunsky, J. M.

Source: SEMINARS IN PEDIATRIC NEUROLOGY. 19(4):173-180

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A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene

Authors: Dumitrescu, A. V., Milunsky, J. M., Longmuir, S. Q., Drack, A. V.

Source: OPHTHALMIC GENETICS. 33(2):100-106

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De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Authors: Hamdan, F. F., Daoud, H., Piton, A. x., Gauthier, J., Dobrzeniecka, S., Krebs, M. O., Joober, R., Lacaille, J. C., Nadeau, A. x., Milunsky, J. M.

Source: BIOLOGICAL PSYCHIATRY -NEW YORK-. 69(9):898-901

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Genotype phenotype analysis of the branchio oculo facial syndrome

Authors: Milunsky, J. M., Maher, T. M., Zhao, G., Wang, Z., Mulliken, J. B., Chitayat, D., Clemens, M., Stalker, H. J., Bauer, M., Burch, M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 155(1):22-32

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Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8

Authors: Leon, E., Jamal, S. M., Zou, Y. S., Milunsky, J. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 155(7):1740-1744

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A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

Authors: Sheridan, M. B., Kato, T., Haldeman-Englert, C., Jalali, G. R., Milunsky, J. M., Zou, Y., Klaes, R., Gimelli, G., Gimelli, S., Gemmill, R. M.

Source: AMERICAN JOURNAL OF HUMAN GENETICS. 87(2):209-218

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A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son

Authors: Zou, Y. S., Newton, S., Milunsky, J. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 152(2):498-503

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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

Authors: Zou, Y. S., Milunsky, J. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 149(11):2573-2577

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Further delineation of the critical region for the 9p-duplication syndrome

Authors: Zou, Y. S., Huang, X. L., Ito, M., Newton, S., Milunsky, J. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 149 NUMB 2:272-276

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Smith–Lemli–Opitz Syndrome (SLOS) and the Fetus

Authors: Li, C. F., Milunsky, J. M.

Source: JOURNAL OF FETAL MEDICINE. 3(2):51-53

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The Value of MLPA in Waardenburg Syndrome

Authors: Milunsky, J. M., Maher, T. A., Ito, M., Milunsky, A.

Source: GENETIC TESTING. 11(2):179-182

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Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion

Authors: Vaglio, A., Greif, G., Bernal, M., Sanguinetti, C., Mechoso, B., Quadrelli, A., Tucci, P., Milunsky, J. M., Huang, X. L., Pagano, S.

Source: GENETIC TESTING. 10(4):272-276

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Autosomal dominant syndrome resembling Coffin-Siris syndrome

Authors: Flynn, M. A., Milunsky, J. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 140(12):1326-1330

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Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH

Authors: Wyandt, H. E., Shim, S. H., Mark, H. F., Huang, X. L., Milunsky, J. M.

Source: EXPERIMENTAL AND MOLECULAR PATHOLOGY. 80(3):262-266

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Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis

Authors: Wyandt, H. E., Tonk, V. S., Huang, X. L., Evans, A. T., Milunsky, J. M., Milunsky, A.

Source: FETAL DIAGNOSIS AND THERAPY. 21(2):235-240

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Constitutional partial 1q trisomy mosaicism and Wilms tumor

Authors: Mark, H. F., Wyandt, H., Pan, A., Milunsky, J. M.

Source: CANCER GENETICS AND CYTOGENETICS. 162(2):166-171

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Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene

Authors: Milunsky, A., Shim, S. H., Ito, M., Jaekle, R. K., Bassett, L. L., Brumund, M. R., Milunsky, J. M.

Source: PRENATAL DIAGNOSIS -JOHN WILEY AND SONS LIMITED-. 25(7):582-585

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XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease

Authors: Milunsky, J. M., Maher, T. A., Loose, B. A., Darras, B. T., Ito, M.

Source: CLINICAL GENETICS. 64(1):70-73

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Cerebro-oculo-facial-lymphatic syndrome

Authors: Milunsky, J. M., Capin, D. M.

Source: CLINICAL GENETICS. 63(4):291-296

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN129225397&indx=1&recIds=ETOCRN129225397