AlexanderAsamoahMDPhD

PubMed

• 404 citations
  Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
  Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman
  The New England Journal of Medicine. 2012-10-03
• 42 citations
  Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
  Pawel Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt
  Human Mutation. 2012-01-01
• 56 citations
  Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region
  Justine Coppinger, Donna M. McDonald-McGinn, Elaine H. Zackai, Kate Shane, Joan F. Atkin
  Human Molecular Genetics. 2009-04-15

Journal Articles

• Recessive Mutations in ATP8A2 Cause Severe Hypotonia, Cognitive Impairment, Hyperkinetic Movement Disorders and Progressive Optic Atrophy  
  Alexander Asamoah, MD, BioMed Central
• etal Alcohol Spectrum Disorders: guidance for recognition, diagnosis, differential diagnosis and referral  
  Sentrurias Y, Asamoah A, Current Problems in Pediatric and Adolescent Health Care, 1/1/2014
• Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis  
  Thapa M, Asamoah A, Gowans GC, Hersh JH, Barch MJ, Mouchrani PJ, Platky KC, Rajakaruna CM, Am J Med Genet, 1/1/2014
• Technical Report: Ethical and policy issues in genetic testing and screening in children  
  Ross LF, Saal HM, David KL, Anderson RR, Genet Med, 1/1/2013
• The Phenotypic Heterogeneity of Genomic Disorders and Multiple, Rare CNVs  
  Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC,..., NEJM, 1/4/2012
• Proximal microdeletions and microduplications of 1q211 contribute to variable abnormal phenotypes  
  Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG and Aylsworth AS, 1q21.1 Study Group (1q21.1 Study Group Contributors..., Eur J Hum Genet, 1/1/2012
• Recurrent deletions and reciprocal duplications of 10q1121q1123 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats  
  Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh T, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S..., Hum Mut, 1/1/2012
• Identification of ectodysplasin-A receptor gene deletion at 2q122 and a potential autosomal MR locus  
  Griggs BL, Ladd S, Decker A, DuPont BR, Asamoah A and Srivastava AK, European Journal of Human Genetics, 1/15/2009
• Identification of familial and de novo microduplications of 22q1121-q113 distal to the 22q1121 microdeletion syndrome region  
  Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif..., Hum Mol Genet, 1/1/2009
• Fetal Alcohol Syndrome  
  Senturias Y, Asamoah A, Allard A, Hersh J, Journal of the KMA, 1/1/2009
• Discovery of a previously unrecognized syndrome of 16p112p122  
  Blake C. Ballif, Sara A. Hornor, Elizabeth Jenkins, Suneeta Madan-Khetarpal, Urvashi Surti, Kelly Jackson, Alexander Asamoah, Pamela L. Brock, Gordon C. Gowans, Robert..., Nat Genet, 1/1/2007
• Proximal Chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies  
  Asamoah A, Am J Med Genet, 1/1/2007
• The Neuropsychological Phenotype of Velocardiofacial Syndrome (VCFS): Relationship to 
psychopathology  
  Lajiness-O'Neill RR, Beaulieu I, Asamoah A, Titus JB, Bawle EV, Ahmad S, Kirk JW, Pollack R, Arch of Clin Neuropsychol, 1/1/2006
• Current treatment of Lysosomal storage disorders  
  Soni S and Asamoah A, Louisville Medicine, 1/1/2006
• Proximal Chromosome 8q deletion in a boy with dysmorphic features, femoral bifurcation, and other multiple congenital anomalies  
  Asamoah A, Nwankwo M, Kumar S, Ezuthachan S, Van Dyke DL, Am J Med Genet, 1/26/2004
• Child with de novo t(1;6)(p221;p221) translocation and features of ectodermal dysplasia with hypodontia and developmental delay  
  Asamoah A, Decker AB, Wiktor A, Van Dyke DL, Am. J. Med Genet, 1/1/2003
• Index of Suspicion: Inborn Errors of Metabolism  
  Asamoah A, Roberson J, 1/1/2002
• Congenital chylothorax in neonatal thyrotoxicosis  
  Ibrahim H, Asamoah A, Krouskop RW, Lewis D, Webster P, Pramanik AK, Journal of Perinatology, 1/1/1999
• A Case of Insertional Translocation involving chromosomes 2 and 4  
  Asamoah A, Nandi KN, Prouty L, Thurmon TF, Chen H, Clinical Genetics, 1/1/1998
• Spontaneous corneal rupture in Noonan syndrome  
  Au YK, Collins WP, Patel JS, Asamoah A, A case report. Ophthalmic Genet, 1/1/1997
• A 17q inversion involving the Neurofibromatosis type one locus in a family with Neurofibromatosis type one  
  Asamoah A, North K, Doran S, Wagstaff J, Ogle R, Collins FS, Korf BR, Am J Med Genet (Neuropsychiatric Genetics), 1/1/1995
• Interstitial duplication of proximal 22q: Phenotypic overlap with cat-eye syndrome  
  Knoll JMH, Asamoah A, Pletcher BA, Wagstaff J, Am J Med Genet, 1/1/1995
• Use of Rb-86 and Na-22 in assaying active and cotransport activities in human erythrocytes in a biracial population  
  Sharma C, Dalferes ER, Jr., Freedman DS, Asamoah A, Berenson GS, Clin Chim Acta, 1/1/1988
• Segregation and linkage analysis of dopamine--hydroxylase activity in a six generation pedigree  
  Asamoah A, Wilson AF, Elston RC, Dalferes E, Jr., Berenson GS, Am J Med Genet, 1/1/1987
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Abstracts/Posters

• A novel SOX9 mutation with normal male genitalia and otherwise classic campomelic dysplasia (CD)
  Gowans G, Curtin M, Kerr K, Autullo LA, Stoate K, Jackson KE, Brock P, Warren KP, Schmitt E, Goodin K, Asamoah A, Hersh J, 65rd Annual meeting of the American Society of Human Genetics, Baltimore, MD, 1/6/2015
• A Case of Hereditary Renal cell Carcinoma: Two Diagnoses Made in a Single Individual Raises Questions in the Era of Multi-gene Cancer Panels
  Schmitt E, Autullo LA, Brock P, Jackson K, Kerr K, Rajakaruna C, Stoate K, Warren K, Asamoah A, Goodin K, Hersh J, Gowans G, American College of Medical Genetics, Salt Lake CIty, UT, 1/1/2015
• A Pathogenic Variant in the DES Gene Revealed by Whole Exome Sequencing Confirming a Diagnosis of Myofibrillary Myopathy
  Autullo LA, Brock P, Jackson K, Schmitt E, Kerr K, Rajakaruna C, Stoate K, Warren K, Asamoah A, Goodin K, Hersh J, Gowans G, American College of Medical Genetics, Salt Lake CIty, UT, 1/1/2015
• Maternal Vitamin B12 Deficiency Identified Due to Infant's Abnormal Newborn Screen
  Goodin K, Rajakaruna C, Jackson K, Payton S, Asamoah A, Gowans G, Autullo LA, Brock P, Kerr K, Platky K, Schmitt E, Stoate K, Hersh J, American College of Medical Genetics, Salt Lake CIty, UT, 1/1/2015
• In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletions
  Rosenfeld JA, Stoate K, Asamoah A, Lebel RR, Raskin S, Russell L, Ellison JW, Schimmenti LA, 63rd Annual meeting of the American Society of Human Genetics, Boston, MA, 1/22/2013
• Fetal alcohol syndrome and Pitt-Hopkins syndrome in four maternal half siblings
  Asamoah A, Jackson K, Senturias Y, Gowans G, Goodin K, Platky K, Hersh J, 63rd Annual meeting of the American Society of Human Genetics, Boston, MA, 1/22/2013
• Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis
  Thapa M, Asamoah A, Gowans GC, Hersh JH, Barch MJ, Mouchrani PJ, Platky KC, Rajakaruna CM, 38th Annual meeting of the Association of Genetic technologists, Boston, MA, 1/6/2013
• In the Shadow of MEF2C: genotype-phenotype correlation for 5q14.3q21 deletions
  Rosenfield JA, Stoate K, Asamoah A, Lebel RR, Ellison JW and Schimmenti LA, 63rd Annual American Society for Human Genetics meeting, Boston, MA, 1/1/2013
• Dystrophin gene deletions detected in children unsuspected of having neuromuscular disorders
  Gowans G.C., Platky K.C., Hersh J.H., Goodin K.M., Asamoah A., Erwin T.L, American College of Medical Genetics Annual Clinical Genetics Meeting, Charlotte, NC, 1/26/2012
• Chromosome 2q12.2q12.3 duplication and Klippel-Feil Sequence
  Asamoah A, Stoate K, Platky K, Hersh J, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Charlotte, NC, 1/1/2012
• Low CPK levels in a girl with multiminicore disease
  Platky K, Asamoah A, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Charlotte, NC, 1/1/2012
• A patient with Van den Ende-Gupta syndrome: Molecular analysis and comparison of clinical features with previously reported patients
  Gowans G.C., Platky K.C., Jackson K.E., Brock P.L., Wetherbee-Landis J.J., Hersh J.H., Goodin K.M., Asamoah A., 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics, Montreal, Canada, 1/12/2011
• Role of human defensins in common variable immune deficiency and
inflammatory bowel disease in a patient with chromosome 8p23.1 deletion and 4p16.1 duplication
  Asamoah A, Jackson K, Hersh J, Woods C, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Vancouver, CA, 1/1/2011
• Further Characterization of the duplication 16p13.11 disease phenotype
  Kussmann J, Brodeur A, Anderson IJ, Bader PI, Banks V, Frydman M, Volz V, Weaver DD, Asamoah A, Stevens CA, Bialer M, Williams SD, Pena L, Tervo RC, Salbert BA, Escoba..., Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Vancouver, CA, 1/1/2011
• A neonatal presentation of MCAD deficiency with elevated creatine phosphokinase and hepatomegaly
  Rajakaruna C, Jackson KE, Asamoah A, Gowans GC, Hersh JH, Goodin K, American College of Medical Genetics, Vancouver, British Columbia, Canada, 1/1/2011
• Developing neurocognitive profiles of patients with recently reported CGH abnormalities
  Gowans GC, Brock P, Jackson K, Tomchek S, Sears L, Markham E, Allear A, Senturias Y, McChane R, Erwin T, Goodin K, Asamoah A, Hersh J, Williams PG, Annual meeting of the American Society of Human Genetics., Washington, DC, 1/1/2010
• Incidental detection of maternal metabolic disorders after newborn screening: experience in Western Kentucky
  Jackson K, Brock P, Rajakaruna C, Askren J, Gowans G, Asamoah A, Goodin K, Lim J, Mayfield-Gibson S, Hersh J, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Albuquerque, NM, 1/1/2010
• A neonatal death due to MCADD in the expanded newborn screen age
  Wetherbee J, Askren J, Jackson K, Asamoah A, Gowans G, Hersh J, Goodin K, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Albuquerque, NM, 1/1/2010
• The neurological phenotype of a patient with a 2q24.3 deletion containing the SCN1A gene
  Rajakaruna C, Asamoah A, Jackson KE, Hersh JK, Gowans GC, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Albuquerque, NM, 1/1/2010
• Asymtomatic Carrier of Ornithine Transcarbamylase deficiency unmasked by bariatric surgery
  Goodin K, Pantalos D, Platky K, Gowans G, Hersh J, Asamoah A, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Albuquerque, NM, 1/1/2010
• A Case of Lysinuric Protein Intolerance in an adolescent
  Asamoah A, Wiles J, Pantalos D, Kinkus K, Brock P, Jackson K, Grill J, Shoemaker L, Gowans G, Hersh J, Nagel M, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Albuquerque, NM, 1/1/2010
• Phenotypic variability in patients with chromosomal microdeletion at 1q21.1, including deletions confined to the proximal TAR region
  Aylsworth A, Rosenfeld J, McPherson E, Powell C, Asamoah A, Mundlos S, Shaffer L, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Tampa, FL, 1/1/2009
• Diabetes insipidus and other manifestations in craniofrontonasal syndrome
  Gowans G, Platky K, Shoemaker L, Asamoah A, Hersh J, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Tampa, FL, 1/1/2009
• Normal FGFR2 analysis in a female with clinical features of Apert Syndrome
  Platky K, Asamoah A, Hersh J, Gowans G, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Tampa, FL, 1/1/2009
• A rare autosomal recessive etiology for Muir-Torre syndrome due to MYH mutations: case report and review of the literature
  Jackson K, Brown C, Asamoah A, Hersh J, Gowans G, Annual meeting of The March of Dimes and the Annual Clinical Genetics Meeting of American College of Medical Genetics, Tampa, FL, 1/1/2009
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Lectures

• Obesity Syndromes in Genetics 
  University of Louisville - 1/20/2015
• Hereditary Breast-Ovarian Cancer and HNPCC 
  Atlanta, GA - 1/19/2013
• Genetics of Adult Diseases 
  University of Developmental Studies Medical School Tamale Teaching Hospital, Tamale, Ghana - 1/1/2013
• Neurocutaneous syndromes 
  University of Louisville - 1/1/2013
• Basic Genetic Testing of Metabolic Disorders in resource-limited settings 
  Atlanta, GA - 1/20/2012
• The sick child with a Metabolic disorder 
  Columbia Presbyterian/Harlem Hospital center, NY - 1/1/2011
• Neurofibromatosis 
  Columbia Presbyterian/Harlem Hospital Center, NY - 1/1/2011
• Dermatological Manifestations of genetic Syndrome 
  Kings County Hospital and Down State Medical Center (SUNY) Brooklyn, NY - 1/1/2011
• Common Pediatric Genetic Syndromes 
  Columbia Presbyterian/Harlem Hospital center, NY - 1/1/2011
• Evaluation of the child with genetic disorder 
  Hotel Kumasi, Ghana - 1/17/2010
• Hereditary Cancers 
  Hotel Kumasi, Ghana - 1/17/2010
• Marfan syndrome and other connective tissue disorders 
  Tamale Teaching Hospital, Tamale, Ghana - 1/1/2010
• Dermatological manifestation of genetic disorders 
  Tamale Teaching Hospital, Tamale, Ghana - 1/1/2010
• An Approach to the Child With Dysmorphic Features 
  Chisinau, Moldova - 1/15/2008
• Common Genetic Syndromes 
  Chisinau, Moldova - 1/15/2008
• Connective Tissue Disorders and Marfan syndrome 
  Chisinau, Moldova - 1/15/2008
• Current Trends in Genetic Testing 
  1/1/2008
• Connective Tissue Disorders 
  1/1/2008
• Hereditary Thrombophilias 
  Miklin Hotel, Kumasi, Ghana - 1/17/2007
• Dermatological manifestations of Genetic Disorders 
  Miklin Hotel, Kumasi, Ghana - 1/17/2007
• Feeding Problems in Metabolic Disorders 
  1/1/2006
• Fatty Acid Oxidation defects 
  University of Louisville - 1/1/2005
• Professionals and Affected Individuals. Organic Acidemia and Fatty Acid Oxidation Disorders 
  1/1/2004
• Newborn Screening: Update of MI State Requirements 
  1/1/2003
• DNA, Genetics and Genealogy 
  Detroit, MI - 1/1/2001
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