Search Results - "Matalon, Dena R"

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study by Ficicioglu, Can, Matalon, Dena R, Luongo, Nicole, Menello, Caitlin, Kornafel, Tracy, Degnan, Andrew J

“…Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the…”
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Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome by Tise, Christina G., Matalon, Dena R., Manning, Melanie A., Byers, Heather M., Grover, Monica

“…Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability,…”
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Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C by Verscaj, Courtney P., Smith, Carly, Homeyer, Margaret, Matalon, Dena R.

“…Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This…”
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Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG) by Seaver, Laurie H., Khushf, George, King, Nancy M.P., Matalon, Dena R., Sanghavi, Kunal, Vatta, Matteo, Wees, Kristi

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Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) by Matalon, Dena R., Zepeda-Mendoza, Cinthya J., Aarabi, Mahmoud, Brown, Kaitlyn, Fullerton, Stephanie M., Kaur, Shagun, Quintero-Rivera, Fabiola, Vatta, Matteo

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Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG) by Seaver, Laurie H., Chan, Perry, Fleisher, Lynn D., Huang, Samuel J., Klugman, Susan D., Matalon, Dena R.

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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis by Deisseroth, Cole A., Birgmeier, Johannes, Bodle, Ethan E., Kohler, Jennefer N., Matalon, Dena R., Nazarenko, Yelena, Genetti, Casie A., Brownstein, Catherine A., Schmitz-Abe, Klaus, Schoch, Kelly, Cope, Heidi, Signer, Rebecca, Martinez-Agosto, Julian A., Shashi, Vandana, Beggs, Alan H., Wheeler, Matthew T., Bernstein, Jonathan A., Bejerano, Gill

“…Diagnosing monogenic diseases facilitates optimal care, but can involve the manual evaluation of hundreds of genetic variants per case. Computational tools…”
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Pallister-Killian Syndrome by Chitkara, Ritu, Chock, Valerie, Barth, Richard, Dahmoush, Hisham, Smith, Carly, Matalon, Dena R, Herring, Melissa, Hintz, Susan

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Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome by Matalon, Dena R., Bhoj, Elizabeth J., Li, Dong, McDougall, Carey, Schindewolf, Erica, Khalek, Nahla, Wilkens, Alisha, McManus, Morgan, Deardorff, Matthew A., Zackai, Elaine H.

“…Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (MIM 246570) is a rare disorder characterized by specific skeletal findings (fibular…”
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Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant by Morales, Jose Andres, Valenzuela, Irene, Cuscó, Ivon, Cogné, Benjamin, Isidor, Bertrand, Matalon, Dena R., Gomez‐Ospina, Natalia

“…WAC‐related intellectual disability (ID) is a rare genetic condition characterized by a spectrum of neurodevelopmental disorders of varying severity, including…”
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Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report by Rao, Rameshwar R., Dulken, Ben W., Matalon, Dena R., Borensztein, Maia, McGuinness, Molly, Cizek, Stephanie M., Bruzoni, Matias, Tan, Serena Y., Kreimer, Sara

“…Heterozygous loss-of-function variants in the suppressor of fused protein gene ( SUFU ) can result in Gorlin syndrome, which is characterized by an increased…”
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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions by Verscaj, Courtney P, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J, Thorson, Willa, Tan, Wen-Hann, Rodig, Nancy, Graham, Jr, John M, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine H, Thomas, Mary Ann, Stevens, Cathy A, Adam, Margaret P, Bird, Lynne M, Jones, Marilyn C, Matalon, Dena R

“…Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract…”
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Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity by Peck, Sun H., Lau, Yian Khai, Kang, Jennifer L., Lin, Megan, Arginteanu, Toren, Matalon, Dena R., Bendigo, Justin R., O'Donnell, Patricia, Haskins, Mark E., Casal, Margret L., Smith, Lachlan J.

“…Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient β-glucuronidase activity, leading to accumulation of incompletely…”
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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency by Coenen-van der Spek, Jet, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael A., Tedder, Matthew L., Louie, Raymond J., Fletcher, Robin S., Moore, Hannah W., Childers, Anna, Farrelly, Ellyn R., Champaigne, Neena L., Lyons, Michael J., Everman, David B., Rogers, R. Curtis, Skinner, Steven A., Renck, Alicia, Matalon, Dena R., Dills, Shelley K., Monteleone, Berrin, Demirdas, Serwet, Dingemans, Alexander J.M., Donker Kaat, Laura, Kolk, Sharon M., Pfundt, Rolph, Rump, Patrick, Sadikovic, Bekim, Kleefstra, Tjitske, Butler, Kameryn M.

“…Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A…”
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Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies by Matalon, Dena R., Stevenson, David A., Bhoj, Elizabeth J., Santani, Avni B., Keena, Beth, Cohen, Meryl S., Lin, Angela E., Sheppard, Sarah E., Zackai, Elaine H.

“…The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the…”
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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder by Tise, Christina G., Palma, Melinda J., Cusmano-Ozog, Kristina P., Matalon, Dena R.

“…Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including…”
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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss by Buchert, Rebecca, Nesbitt, Addie I, Tawamie, Hasan, Krantz, Ian D, Medne, Livija, Helbig, Ingo, Matalon, Dena R, Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami

“…We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss,…”
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Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM2 0C by Verscaj, Courtney P., Smith, Carly, Homeyer, Margaret, Matalon, Dena R.

“…Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This…”
Get full text

Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report by Rao, Rameshwar R., Dulken, Ben W., Matalon, Dena R., Borensztein, Maia, McGuinness, Molly, Cizek, Stephanie M., Bruzoni, Matias, Tan, Serena Y., Kreimer, Sara

“…Heterozygous loss-of-function variants in the suppressor of fused protein gene (SUFU) can result in Gorlin syndrome, which is characterized by an increased…”
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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder by Christina G. Tise MD, PhD, Melinda J. Palma MD, Kristina P. Cusmano-Ozog MD, Dena R. Matalon MD

“…Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including…”
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