EmilyChenMD

PubMed

• 6 citations
  Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Gen...
  Anthony R Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T Leach, Michael T Bashford, Tamar Goldwaser, Emily Chen, Teresa N Sparks, Honey V Reddi, Aleksandar Rajkovic, ...> ;Genetics in Medicine. 2021 Oct 1
• 116 citations
  Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genom...
  Anthony R Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T Leach, Michael T Bashford, Tamar Goldwaser, Emily Chen, Teresa N Sparks, Honey V Reddi, Aleksandar Rajkovic, ...> ;Genetics in Medicine. 2021 Oct 1
• 27 citations
  Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
  Nurit Assia Batzir, Jennifer E. Posey, Xiaofei Song, Zeynep Coban Akdemir, Jill A. Rosenfeld, Chester W. Brown, Emily Chen, Shannon Holtrop, Elizabeth Mizerik, Margari...> ;American Journal of Medical Genetics. Part A. 2020 Jan 1
• 8 citations
  Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
  Sarah E. Grams, Bob Argiropoulos, Matthew A. Lines, Pranesh Chakraborty, Jean McGowan-Jordan, Michael T. Geraghty, Marilyn Tsang, Marthand Eswara, Kamer Tezcan, Kelly ...> ;American Journal of Medical Genetics. Part A. 2016 Apr 1
• 15 citations
  Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region
  Francesca Fusco, Mariateresa Paciolla, Emily Chen, Xu Li, Rita Genesio, Anna Conti, Julie Jones, Loredana Poeta, Maria Brigida Lioi, Matilde Valeria Ursini, Maria Gius...> ;Human Reproduction. 2011 Nov 1
• 31 citations
  New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
  , , , , , , , , , , , , , , , > ;European Journal of Medical Genetics. 2011 Jan 1
• Fabrication of a custom incisal guide table with vinyl polysiloxane.
  Chen, E. Y.,Plummer, K. D.> ;J Prosthet Dent. 2009 Aug 01
• 12 citations
  Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental ...
  Emily Chen, Elise Obolensky, Katherine A. Rauen, Lisa G. Shaffer, Xu Li> ;American Journal of Medical Genetics. Part A. 2008 Nov 1
• 30 citations
  Ring chromosome 15: Characterization by array CGH
  Ian A. Glass, Katherine A. Rauen, Emily Chen, Jillian Parkes, Donna G. Alberston, Daniel Pinkel, Philip D. Cotter> ;Human Genetics. 2006 Jan 1
• 1 citations
  Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)
  Emily Chen, Michele A. Choe, William D. Loughman, Susan M. Covert, Sheila Bitts, Amy G. Rowe, Linda S. Beischel, John P. Johnson> ;American Journal of Medical Genetics. Part A. 2005 Jan 15
• 29 citations
  A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.
  Cagri Yildirim-Toruner, Kavitha Subramanian, Lamya El Manjra, Emily Chen, Stanley Goldstein, Emilia Vitale> ;American Journal of Medical Genetics. Part A. 2004 Dec 15
• 88 citations
  Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype
  Prateek Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne H. Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catheri...> ;Human Mutation. 2002 Jan 1
• 27 citations
  Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome
  Emily Chen, Philip D. Cotter, Ronald A. Cohen, Ralph S. Lachman> ;American Journal of Medical Genetics. 2001 Jul 1
• 30 citations
  Tetrasomy 15q25-->qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome.
  Amy G. Rowe, Liane Abrams, Yong Qu, Emily Chen, Philip D. Cotter> ;American Journal of Medical Genetics. 2000 Aug 28
• 28 citations
  True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities.
  Haruhiko Sago, Emily Chen, William J. Conte, Victoria A. Cox, James D. Goldberg, Roger V. Lebo, Mahin Golabi> ;American Journal of Medical Genetics. 1997 Oct 31
• 4 citations
  Distichiasis-lymphedema Syndrome: Tetralogy of Fallot, Chylothorax, and Neonatal Death
  Emily Chen, Susan K. Larabell, Jamilyn M. Daniels, Stanley Goldstein> ;American Journal of Medical Genetics. 1996 Dec 18
• 36 citations
  Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations
  J. Britt Ravnan, Emily Chen, Mahin Golabi, Roger V. Lebo> ;American Journal of Medical Genetics. 1996 Dec 18
• 104 citations
  Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
  Rhiannon M. Hughes-Benzie, Giuseppe Pilia, J. Y. Xuan, Alasdair G. W. Hunter, Emily Chen, Mahin Golabi, J. A. Hurst, J. Kobori, Kathi Marymee, Roberta A. Pagon, H.H. P...> ;American Journal of Medical Genetics. 1996 Dec 11
• 52 citations
  l -2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death
  E. Chen, William L. Nyhan, C. Jakobs, C. M. Greco, A. J. Barkovich, V. A. Cox, Seymour Packman> ;Journal of Inherited Metabolic Disease. 1996 Jan 1
• 7 citations
  Prenatal diagnosis of Menkes disease by mutation analysis.
  Soma Das, S. Whitney, J. A. Taylor, E. Chen, Barbara Levinson, Chris D. Vulpe, Jane Gitschier, Seymour Packman> ;Journal of Inherited Metabolic Disease. 1995 Jan 1
• 21 citations
  Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
  Emily Chen, James E. Cleaver, Christine A Weber, Seymour Packman, A. J. Barkovich, Thomas K. Koch, Mary L. Williams, Mahin Golabi, Vera H. Price> ;The Journal of Investigative Dermatology. 1994 Nov 1
• 41 citations
  Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.
  Emily Chen, John P. Johnson, Victoria A. Cox, Mahin Golabi> ;American Journal of Medical Genetics. 1993 Jun 15
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