Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability von Flore, Leigh Anne, MD, Milunsky, Jeff M., MD

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Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing von Dong, Weilai, Baldwin, Clinton, Choi, Jungmin, Milunsky, Jeff M., Zhang, Junhui, Bilguvar, Kaya, Lifton, Richard P., Milunsky, Aubrey

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Mosaic down syndrome in a patient with low‐level mosaicism detected by microarray von Leon, Eyby, Zou, Ying S., Milunsky, Jeff M.

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De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism von Hamdan, Fadi F, Daoud, Hussein, Piton, Amélie, Gauthier, Julie, Dobrzeniecka, Sylvia, Krebs, Marie-Odile, Joober, Ridha, Lacaille, Jean-Claude, Nadeau, Amélie, Milunsky, Jeff M, Wang, Zhenyuan, Carmant, Lionel, Mottron, Laurent, Beauchamp, Miriam H, Rouleau, Guy A, Michaud, Jacques L

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The syndrome of hypoparathyroidism, deafness, and renal anomalies von Upadhyay, Jagriti, Steenkamp, Devin W, Milunsky, Jeff M

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Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant von Milunsky, Aubrey, Lazier, Joanna, Baldwin, Clinton, Young, Carmen, Primack, Daniel, Milunsky, Jeff M.

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Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8 von Leon, Eyby, Jamal, Seema M., Zou, Ying S., Milunsky, Jeff M.

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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 von Zou, Ying S., Milunsky, Jeff M.

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Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood von Ize-Ludlow, Diego, Gray, Juliette A, Sperling, Mark A, Berry-Kravis, Elizabeth M, Milunsky, Jeff M, Farooqi, I. Sadaf, Rand, Casey M, Weese-Mayer, Debra E

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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 von Zou, Ying S., Newton, Stephanie, Milunsky, Jeff M.

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Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH von Milunsky, JM, Huang, XL

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Fragile X carrier screening and spinocerebellar ataxia in older males von Milunsky, Jeff M., Maher, Thomas A.

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RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation von Flore, Leigh Anne, Leon, Eyby, Maher, Tom A., Milunsky, Jeff M.

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions von Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna

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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination von Margolin, David H, Kousi, Maria, Chan, Yee-Ming, Lim, Elaine T, Schmahmann, Jeremy D, Hadjivassiliou, Marios, Hall, Janet E, Adam, Ibrahim, Dwyer, Andrew, Plummer, Lacey, Aldrin, Stephanie V, O'Rourke, Julia, Kirby, Andrew, Lage, Kasper, Milunsky, Aubrey, Milunsky, Jeff M, Chan, Jennifer, Hedley-Whyte, E. Tessa, Daly, Mark J, Katsanis, Nicholas, Seminara, Stephanie B

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Autosomal dominant syndrome resembling Coffin–Siris syndrome von Flynn, Maureen A., Milunsky, Jeff M.

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Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients von Conway, Robert L., Pressman, Barry D., Dobyns, William B., Danielpour, Moise, Lee, John, Sanchez-Lara, Pedro A., Butler, Merlin G., Zackai, Elaine, Campbell, Lindsey, Saitta, Sulagna C., Clericuzio, Carol L., Milunsky, Jeff M., Hoyme, H. Eugene, Shieh, Joseph, Moeschler, John B., Crandall, Barbara, Lauzon, Julie L., Viskochil, David H., Harding, Brian, Graham Jr, John M.

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Prenatal molecular diagnosis of tuberous sclerosis complex von Milunsky, Aubrey, MBBCh, DSc, FRCP, FACMG, DCH, Ito, Masamichi, PhD, Maher, Thomas A., MS, Flynn, Maureen, MS, CGC, Milunsky, Jeff M., MD

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Correction to: A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts von Milunsky, Aubrey, Milunsky, Jeff M., Dong, Weilai, Hovhannisyan, Hayk, Oates, Robert D.

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A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts von Milunsky, Aubrey, Milunsky, Jeff M., Dong, Weilai, Hovhannisyan, Hayk, Oates, Robert D.

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