Search Results - "Milunsky, Jeff"

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions by 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

“…Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes,…”
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P252: Narcolepsy in Ehlers-Danlos syndrome by Milunsky, Jeff, Milunsky, Aubrey

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Diagnosis of Chronic Intestinal Pseudo‐obstruction and Megacystis by Sequencing the ACTG2 Gene by Milunsky, Aubrey, Baldwin, Clinton, Zhang, Xiaoying, Primack, Daniel, Curnow, Adrian, Milunsky, Jeff

“…ABSTRACT Objectives: The diagnosis of chronic intestinal pseudo‐obstruction has depended on clinical features, manometry, and imaging. This report aimed to…”
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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination by 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

“…This report ascribes ataxia and hypogonadism to mutations affecting two proteins in a ubiquitination pathway, which affects the cellular disposal of specific…”
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Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing by Dong, Weilai, Baldwin, Clinton, Choi, Jungmin, Milunsky, Jeff M., Zhang, Junhui, Bilguvar, Kaya, Lifton, Richard P., Milunsky, Aubrey

“…Chronic Intestinal Pseudo‐Obstruction (CIPO) is a rare gastrointestinal disorder, which affects the smooth muscle contractions of the gastrointestinal tract…”
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De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism by 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

“…Background Little is known about the genetics of nonsyndromic intellectual disability (NSID). Recently, we reported de novo truncating mutations in the SYNGAP1…”
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Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability by Flore, Leigh Anne, MD, Milunsky, Jeff M., MD

“…Global developmental delay (GDD) and intellectual disability (ID) occur in up to 3% of the general population and are even more commonly encountered in the…”
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Clinical genetic testing for patients with autism spectrum disorders by 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

“…Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic testing…”
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Correction to: A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts by Milunsky, Aubrey, Milunsky, Jeff M., Dong, Weilai, Hovhannisyan, Hayk, Oates, Robert D.

“…A Correction to this paper has been published: https://doi.org/10.1007/s10815-021-02257-3…”
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A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export by 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

“…Neuroligins (NLs) are postsynaptic cell-adhesion molecules essential for normal synapse function. Mutations in neuroligin-4 (NL4) (gene symbol: NLGN4) have…”
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A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts by Milunsky, Aubrey, Milunsky, Jeff M., Dong, Weilai, Hovhannisyan, Hayk, Oates, Robert D.

“…Non-obstructive azoospermia accounts for 10–15% of male infertility, resulting in 60% of all cases of azoospermia and affecting about 1% of the male…”
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The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene? by Shin, Meyeon, Douglass, Laurie M., Milunsky, Jeff M., Rosman, N. Paul

“…Benign paroxysmal torticollis of infancy is an unusual movement disorder, often accompanied by a family history of migraine. Some benign paroxysmal torticollis…”
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The syndrome of hypoparathyroidism, deafness, and renal anomalies by Upadhyay, Jagriti, Steenkamp, Devin W, Milunsky, Jeff M

“…We review the syndrome of hypoparathyroidism, deafness, and renal anomalies (HDR syndrome). The current understanding and relevant literature pertaining to the…”
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Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant by Milunsky, Aubrey, Lazier, Joanna, Baldwin, Clinton, Young, Carmen, Primack, Daniel, Milunsky, Jeff M.

“…What's already known about this topic? Pathogenic variants in the ACTG2 gene cause highly variable autosomal dominant phenotypes from intestinal…”
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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome by 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.

“…Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include…”
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Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood by 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

“…The goal was to characterize the phenotype and potential candidate genes responsible for the syndrome of late-onset central hypoventilation with hypothalamic…”
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Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability by Hajianpour, M J, Bombei, Hannah, Lieberman, Scott M, Revell, Rachael, Krishna, Rachana, Gregorsok, Robert, Kao, Simon, Milunsky, Jeff M

“…Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder with variable lacrimal and salivary gland hypoplasia and aplasia, auricular…”
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Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome by Jamal, Seema M., Basran, Raveen K., Newton, Stephanie, Wang, Zhenyuan, Milunsky, Jeff M.

“…Epilepsy and Mental Retardation Limited to Females (EFMR) [OMIM 300088] was first described in 1971 [Juberg and Hellman, 1971] in 15 related females with early…”
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Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients by 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.

“…Here, we report the neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly–Capillary Malformation (M–CM). This syndrome…”
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Dental issues in lacrimo-auriculo-dento-digital syndrome by Hajianpour, MJ, MD, PhD, Bombei, Hannah, MS, CGC, Lieberman, Scott M., MD, PhD, Revell, Rachael, DDS, Krishna, Rachana, MD, Gregorsok, Robert, DDS, Kao, Simon, MD, Milunsky, Jeff M., MD

“…Abstract Background and Overview Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder with variable lacrimal and salivary gland…”
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