DariusJohnAdamsMD

PubMed

• 6 citations
  The infantile neuroaxonal dystrophy rating scale (INAD-RS).
  Paldeep S. Atwal, Mark G. Midei, Darius J. Adams, Alex J. Fay, Frederic Heerinckx, Peter G. Milner> ;Orphanet Journal of Rare Diseases. 2020 Jul 29
• 18 citations
  Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two cases.
  Darius J. Adams, Mark G. Midei, Jahannaz Dastgir, Christina Flora, Robert J. Molinari, Frederic Heerinckx, Sarah Endemann, Paldeep S. Atwal, Peter G. Milner, Mikhail S...> ;JIMD Reports. 2020 Mar 27
• 17 citations
  Phenotype delineation of ZNF462 related syndrome
  Paul Kruszka, Tommy Hu, Sung-Kook Hong, Rebecca Signer, Benjamin Cogné, Betrand Isidor, Sarah E. Mazzola, Jacques C. Giltay, Koen L.I. van Gassen, Eleina M. England, L...> ;American Journal of Medical Genetics. Part A. 2019 Oct 1
• 26 citations
  Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
  Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengw...> ;Science Advances. 2019 Sep 25
• 17 citations
  Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
  Muhammad Ansar, Farid Ullah, Sohail A. Paracha, Darius J. Adams, Abbe Lai, Lynn Pais, Justyna Iwaszkiewicz, Francisca Millan, Muhammad T. Sarwar, Zehra Agha, Sayyed Fa...> ;American Journal of Human Genetics. 2019 Jun 6
• 32 citations
  International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
  Ania C. Muntau, Darius J. Adams, Amaya Belanger-Quintana, Tatiana V Bushueva, Roberto Cerone, Yin-Hsiu Chien, Ana Chiesa, Turgay Coşkun, Javier de las Heras, François ...> ;Molecular Genetics and Metabolism. 2019 May 1
• 150 citations
  GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
  Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O. Heyne, Katherine L. Helbig, Sha Tang, Marcia C. W...> ;Journal of Medical Genetics. 2017 Jul 1
• 69 citations
  Newborn screening for Krabbe disease in New York State: the first eight years' experience.
  Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra-Matiz, David A. Wenger, Patricia K. Duffner, Richard W. Erbe, Chad K. Biski, Monica Martin, Lea M. Krein, Matthew N...> ;Genetics in Medicine. 2016 Mar 1
• 13 citations
  Common Genetic and Epigenetic Syndromes
  Darius J. Adams, David A. Clark> ;Pediatric Clinics of North America. 2015 Apr 1
• 81 citations
  Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
  Beth Vogel, S. E. Bradley, Darius J. Adams, Kristin D'Aco, Richard W. Erbe, Chin-To Fong, A. Iglesias, David Kronn, P. Levy, Mark A. Morrissey, Joseph J. Orsini, P. Pa...> ;Molecular Genetics and Metabolism. 2015 Apr 1
• 8 citations
  A Prenatal Presentation of Severe Microcephaly and Brain Anomalies in a Patient With Novel Compound Heterozygous Mutations in the STIL Gene Found Postnatally With Exom...
  Harvey Bennett, Amy Presti, Darius Adams, Jose Rios, Carlos Benito, Daniel Cohen> ;Pediatric Neurology. 2014 Sep 1
• Reply.
  Burton, B.K., Adams, D.J., Grange, D.K., Malone, J.I., Jurecki, E., Bausell, H., Marra, K.D., Sprietsma, L., Swan, K.T.> ;J Pediatr. 2011-05-01
• 24 citations
  Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young Children
  Barbara K. Burton, Darius J. Adams, Dorothy K. Grange, John I. Malone, Elaina Jurecki, Heather Bausell, Kayt D. Marra, Laurie Sprietsma, Kathleen T. Swan> ;The Journal of Pediatrics. 2011 Mar 1
• 45 citations
  Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
  Georgianne L. Arnold, Carlos A. Saavedra-Matiz, Patricia Galvin-Parton, Richard W. Erbe, Ellen DeVincentis, David Kronn, Shideh Mofidi, Melissa P. Wasserstein, Joan E....> ;Molecular Genetics and Metabolism. 2010 Mar 1
• 79 citations
  Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
  Ayman W. El-Hattab, Fangyuan Li, Joseph J. Shen, Berkley R. Powell, Erawati V. Bawle, Darius J. Adams, Erica Wahl, Joyce A. Kobori, Brett H. Graham, Fernando Scaglia, ...> ;Genetics in Medicine. 2010 Jan 1
• 138 citations
  Newborn screening for Krabbe disease: the New York State model.
  Patricia K. Duffner, Michele Caggana, Joseph J. Orsini, David A. Wenger, Marc C. Patterson, Carl J. Crosley, Joanne Kurtzberg, Georgianne L. Arnold, Maria L. Escolar, ...> ;Pediatric Neurology. 2009 Apr 1
• 97 citations
  Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
  Lee-Jun C. Wong, Nicola Brunetti-Pierri, Qing Zhang, Nada Yazigi, Kevin E. Bove, Beverly B. Dahms, Michelle Puchowicz, Ignacio Gonzalez-Gomez, Eric S. Schmitt, Cavatin...> ;Hepatology. 2007 Oct 1
• 235 citations
  An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1...
  Meena Upadhyaya, Susan M Huson, M. Davies, Nicholas Stuart Tudor Thomas, Nadia Chuzhanova, S. Giovannini, D G R Evans, E. Howard, Bronwyn Kerr, Sian Wyn Griffiths, Cla...> ;American Journal of Human Genetics. 2007 Jan 1
• 15 citations
  Recognizing the clinical features of Trisomy 13 syndrome.
  Angel Rios, Susan A Furdon, Darius J. Adams, David A. Clark> ;Advances in Neonatal Care. 2004 Dec 1
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