MarybethHummelMD

PubMed

• 6 citations
  RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
  Elizabeth E. Palmer, Renee Carroll, Marie Shaw, Raman Kumar, Andre E. Minoche, Melanie Leffler, Lucinda Murray, Rebecca Macintosh, Dale Wright, Chris Troedson, Fiona H...> ;American Journal of Human Genetics. 2020 Dec 3
• 27 citations
  De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
  Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, Maria Rodriguez Lopez, Vi...> ;American Journal of Human Genetics. 2020 Aug 6
• 6 citations
  Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
  Rola Ba-Abbad, Monique J Leys, Xiang Wang, Christina Chakarova, Naushin Waseem, Keren J. Carss, F L Raymond, Kinga M. Bujakowska, Eric A. Pierce, Omar A. Mahroo, Moham...> ;Investigative Ophthalmology & Visual Science. 2018 Oct 1
• 54 citations
  Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
  Bret L. Bostwick, Scott D. McLean, Jennifer E. Posey, Haley Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farre...> ;Genome Medicine. 2017 Aug 14
• 12 citations
  221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
  Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, Sally J. Hiner, Mathew J. Edick, Susan A. ...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 1 citations
  Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood.
  Amy L. Shackelford, Laura K. Conlin, Marybeth Hummel, Nancy B. Spinner, Sharon L. Wenger> ;Case Reports in Genetics. 2013 Sep 15
• 932 citations
  A copy number variation morbidity map of developmental delay
  Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu, Carl Baker, Charles A. Williams, Heather J. Stalker, Rizwan Hamid, Vickie L. H...> ;Nature Genetics. 2011 Sep 1
• 3 citations
  Obesity and reversed growth retardation in a child with type Ia glycogen storage disease.
  Wikrom Karnsakul, Stacey Gillespie, Kathryn Skitarelic, Marybeth Hummel> ;Journal of Pediatric Endocrinology & Metabolism. 2010 Jan 24
• 4 citations
  Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome.
  Nathanael G. Bailey, Sarah T South, Marybeth Hummel, Sharon L. Wenger> ;Journal of the Association of Genetic Technologists. 2010 Jan 1
• 5 citations
  Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly
  Harvinder S. Dod, Ravindra Bhardwaj, Marybeth Hummel, Anthony P. Morise, Satdev Batish, Bradford E. Warden, Robert J. Beto, Abnash C. Jain> ;American Journal of Medical Genetics. Part A. 2010 Jan 1
• 24 citations
  Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
  Adele Schneider, Tanya Bardakjian, Jie Zhou, Nkecha Hughes, Rosanne Keep, Darnelle Dorsainville, Femida Kherani, James A. Katowitz, Lisa A. Schimmenti, Marybeth Hummel...> ;American Journal of Medical Genetics. Part A. 2008 Nov 1
• 30 citations
  Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy
  M. Indelman, J. Eason, Marybeth Hummel, O. Loza, M. Suri, M. J. Leys, M. Bayne, F. L. Schwartz, Eli Sprecher> ;Clinical and Experimental Dermatology. 2007 Mar 1
• 23 citations
  Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
  Sharon L. Wenger, Paul Grossfeld, Benjamin L. Siu, James E. Coad, Frank G. Keller, Marybeth Hummel> ;American Journal of Medical Genetics. Part A. 2006 Apr 1
• 5 citations
  Prenatal detection of deletion 6q13q15 in a complex karyotype.
  Min Yu, Angela C. Obringer, Melissa H. Fowler, Marybeth Hummel, Sharon L. Wenger> ;Prenatal Diagnosis. 2005 Dec 15
• 79 citations
  Molecular and phenotypic characterization of ring chromosome 22.
  Aaron R. Jeffries, Sarah Curran, Frances Elmslie, Ajay Sharma, Sharon L. Wenger, Marybeth Hummel, John Powell> ;American Journal of Medical Genetics. Part A. 2005 Aug 30
• 8 citations
  Mosaic ring 12p and total anomalous pulmonary venous return
  Darren L. Harris, Benjamin L. Siu, Marybeth Hummel, Kerry A. Harbert, Jamie R. Senft, Linda M. Sargent, Sharon L. Wenger> ;American Journal of Medical Genetics. Part A. 2004 Nov 15
• 2 citations
  Cleft palate in a newborn with duplication 2(q13q23).
  Sharon L. Wenger, Ona C. Bleigh, Marybeth Hummel> ;The Cleft Palate-Craniofacial Journal. 2004 Sep 1
• 13 citations
  Prenatal diagnosis of tetrasomy 9p
  Wozhan Tang, Brita K. Boyd, Marybeth Hummel, Sharon L. Wenger> ;American Journal of Medical Genetics. Part A. 2004 Apr 30
• 28 citations
  Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
  Marybeth Hummel, David Cunningham, Charles J. Mullett, Richard I. Kelley, Gail E. Herman> ;American Journal of Medical Genetics. Part A. 2003 Oct 15
• 4 citations
  Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere FISH probes.
  Bonnie J. Hulley, Marybeth Hummel, Sharon L. Wenger> ;American Journal of Medical Genetics. Part A. 2003 Mar 15
• 12 citations
  Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells.
  Bonnie J. Hulley, Marybeth Hummel, Linda L. Cook, Brita K. Boyd, Sharon L. Wenger> ;American Journal of Medical Genetics. Part A. 2003 Jan 15
• 57 citations
  Tyrosinemia type II: nine cases of ocular signs and symptoms
  Marian S. Macsai, Terry L. Schwartz, David M. Hinkle, Marybeth Hummel, Mark G. Mulhern, David S. Rootman> ;American Journal of Ophthalmology. 2001 Oct 1
• Three-way unbalanced translocation in a mildly dysmorphic mentally retarded child.
  Sharon L. Wenger, C Cutenese, Marybeth Hummel> ;Clinical Genetics. 2001 Feb 1
• 5 citations
  Prenatal detection of trisomy for the entire long arm of chromosome 7
  B V Ndah, Jeffrey A Stead, Leo R. Brancazio, Marybeth Hummel, Sharon L. Wenger> ;Journal of Medical Genetics. 2000 Jul 1
• 8 citations
  Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.
  Sharon L. Wenger, Leslie Y. Boone, James H. Cummins, Maria A. Del Vecchio, C A Bay, Marybeth Hummel, Patricia A. Mowery-Rushton> ;American Journal of Medical Genetics. 2000 Apr 24
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