MichaelRayMarbleMD

PubMed

• 8 citations
  UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
  Rhonda E. Schnur, Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble, Regina M. Zambrano, Nara Sobreira, Parul Jayakar, Mary Ella M Pierpont, Mat...> ;Genetics in Medicine. 2021 May 26
• 54 citations
  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
  Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Barañano, Lauren C. Briere, Julie S. Cohen, Willi...> ;American Journal of Human Genetics. 2020 Aug 6
• 9 citations
  Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.
  Kelsey Casano, Hannah Meddaugh, Regina M. Zambrano, Michael Marble, Jairo I. Torres> ;European Journal of Medical Genetics. 2020 Jan 13
• 13 citations
  RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature.
  Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W. Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Michael Marble, Regina Zambrano> ;Clinical Dysmorphology. 2017 Oct 1
• 6 citations
  Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.
  Sravani Avula, Thuylinh M. Nguyen, Michael Marble, Christian Lilje> ;Echocardiography. 2017 Mar 7
• 19 citations
  Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
  Regina M. Zambrano, Michael Marble, Stuart A. Chalew, Christian Lilje, Alfonso Vargas> ;American Journal of Medical Genetics. Part A. 2017 Feb 1
• 12 citations
  Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation p...
  Michael Marble, Maria J. Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola> ;American Journal of Medical Genetics. Part A. 2017 Jan 1
• 3 citations
  Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management...
  Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona K. Bakeer, Michael Marble, Chindo Hicks, Fern Tsien> ;SAGE Open Medical Case Reports. 2017 Dec 11
• 6 citations
  Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder.
  Aditi Vian Varma, Lori McBride, Michael Marble, Ann Tilton> ;Journal of the Neurological Sciences. 2016 Nov 15
• 14 citations
  Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
  John C. K. Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Stadheim, Claire L. S. Turner, Jacqu...> ;American Journal of Medical Genetics. Part A. 2015 Sep 1
• 2 citations
  Bilateral absence of the ulna in 4q terminal deletion syndrome: evidence for a critical region.
  Tyson Meaux, Amy Zeringue, Christy Mumphrey, Brian Barkemeyer, Michael Marble> ;Clinical Dysmorphology. 2015 Jul 1
• 28 citations
  8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
  John C K Barber, Jill A. Rosenfeld, Nicola Foulds, Sophie R. Laird, Mark S. Bateman, N. Simon Thomas, Samantha Baker, Viv K. Maloney, Arayamparambil C. Anilkumar, Wend...> ;American Journal of Medical Genetics. Part A. 2013 Mar 1
• 199 citations
  De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
  Jean-Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, S.S. Kholmanskikh, Brian J. O'Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L...> ;Nature Genetics. 2012 Apr 1
• 98 citations
  High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with ...
  Blake C. Ballif, Jill A. Rosenfeld, Ryan N. Traylor, Aaron Theisen, Patricia I. Bader, Roger L. Ladda, Susan Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire...> ;Human Genetics. 2012 Jan 1
• 14 citations
  Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay
  Trilochan Sahoo, Aaron Theisen, Michael Marble, Raymond C. Tervo, Jill A. Rosenfeld, Beth S. Torchia, Lisa G. Shaffer> ;American Journal of Medical Genetics. Part A. 2011 Dec 1
• 40 citations
  Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
  Trilochan Sahoo, Aaron Theisen, Pedro A. Sanchez-Lara, Michael Marble, Daniela N. Schweitzer, Beth S. Torchia, Allen N. Lamb, Bassem A. Bejjani, Lisa G. Shaffer> ;American Journal of Medical Genetics. Part A. 2011 Jul 1
• 14 citations
  Positive Newborn Screen in a Normal Infant of a Mother with Asymptomatic Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
  Robin R. McGoey, Michael Marble> ;The Journal of Pediatrics. 2011 Jun 1
• 9 citations
  Monosomy 18p and immunologic dysfunction: review of the literature and a new case report with thyroiditis, IgA deficiency, and systemic lupus erythematosus.
  Robin R McGoey, Abraham Gedalia, Michael Marble> ;Clinical Dysmorphology. 2011 Apr 1
• 10 citations
  De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
  Swaroop Aradhya, Nizar Smaoui, Michael Marble> ;American Journal of Medical Genetics. Part A. 2011 Feb 1
• 105 citations
  Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
  Zsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorovic, Lior Zilberberg, Jiwon Choi, Carla Sens, Chester W. Brown, Robin D. Clark, Kristen E. Holland,...> ;American Journal of Human Genetics. 2009 Nov 13
• 1 citations
  45,X/47,XX,+18 and ring (18) mosaicism with mild phenotypic features including normal stature: clinical report and review of the literature.
  Robin R McGoey, Kelly E. Jackson, Michael Marble> ;Clinical Dysmorphology. 2009 Jan 1
• 27 citations
  Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.
  Michael Marble, Sara Copeland, Nashat Khanfar, David S. Rosenblatt> ;The Journal of Pediatrics. 2008 May 1
• 13 citations
  Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up.
  Michael Marble, Robin R McGoey, Elizabeth E. Mannick, Bronya J.B. Keats, San San Ng, Heidi Gereighty, Eberhard Schmidt-Sommerfeld> ;Journal of Pediatric Gastroenterology and Nutrition. 2008 Apr 1
• 5 citations
  Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.
  Michael Marble, Kytja S. Voeller, Melanie M. May, Roger E. Stevenson, Charles E. Schwartz, Richard J. Simensen> ;American Journal of Medical Genetics. Part A. 2007 Jul 1
• 5 citations
  Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation.
  Fern Tsien, Eva Morava, Aimee Talarski, Michael Marble> ;Clinical Dysmorphology. 2005 Oct 1
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