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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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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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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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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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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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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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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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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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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Clinical genetic testing for patients with autism spectrum disorders von Shen, Yiping, Dies, Kira A, Holm, Ingrid A, Bridgemohan, Carolyn, Sobeih, Magdi M, Caronna, Elizabeth B, Miller, Karen J, Frazier, Jean A, Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A, Peters, Heather K, Brewster, Stephanie J, Kowalczyk, Sara J, Rosen-Sheidley, Beth, McGowan, Caroline, Duda, 3rd, Andrew W, Lincoln, Sharyn A, Lowe, Kathryn R, Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K, Milunsky, Jeff M, Rappaport, Leonard, Gusella, James F, Walsh, Christopher A, Wu, Bai-Lin, Miller, David T

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome von Drivas, Theodore G, Li, Dong, Nair, Divya, Alaimo, Joseph T, Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E Martina, Bertsch, Nicole L, Blackburn, Patrick R, Blesson, Alyssa, Bouman, Arjan M, Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M, Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E, Gunderson, Lauren B, Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W, Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L, Milunsky, Jeff M, Napier, Melanie P, Ortiz-Gonzalez, Xilma R, Pichurin, Pavel N, Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J, Renaud, Deborah L, Rush, Eric T, Saunders, Carol, Selcen, Duygu, Seman, Ann R, Shinde, Deepali N, Smith, Erica D, Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M, Tang, Sha, Tartaglia, Marco, Thompson, Michelle L, van de Kamp, Jiddeke M, Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H, Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

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A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export von Zhang, Chen, Milunsky, Jeff M, Newton, Stephanie, Ko, Jaewon, Zhao, Geping, Maher, Tom A, Tager-Flusberg, Helen, Bolliger, Marc F, Carter, Alice S, Boucard, Antony A, Powell, Craig M, Sudhof, Thomas C

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The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene? von Shin, Meyeon, Douglass, Laurie M., Milunsky, Jeff M., Rosman, N. Paul

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome von Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.

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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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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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Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome von Jamal, Seema M., Basran, Raveen K., Newton, Stephanie, Wang, Zhenyuan, Milunsky, Jeff M.

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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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A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) von Sheridan, Molly B., Kato, Takema, Haldeman-Englert, Chad, Jalali, G. Reza, Milunsky, Jeff M., Zou, Ying, Klaes, Ruediger, Gimelli, Georgio, Gimelli, Stefania, Gemmill, Robert M., Drabkin, Harry A., Hacker, April M., Brown, Julia, Tomkins, David, Shaikh, Tamim H., Kurahashi, Hiroki, Zackai, Elaine H., Emanuel, Beverly S.

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