AdolfoD.GarnicaMD

PubMed

• 23 citations
  Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
  Nurit Assia Batzir, Pranjali K Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B. Bosanko, Skander Bouassida, Bert Callewaert, ...> ;Human Mutation. 2020 Mar 1
• 38 citations
  KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
  Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart E. Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Timothy S. Wan...> ;Annals of Neurology. 2018 Nov 1
• McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders.
  William D. Walters, Adolfo D. Garnica, G B Schaefer> ;Seminars in Pediatric Neurology. 2017 Apr 1
• 122 citations
  Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
  Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew A. Deardorff, Alish...> ;American Journal of Human Genetics. 2015 Sep 3
• 37 citations
  Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
  Christina Lam, Gretchen Golas, Mariska Davids, Marjan Huizing, Megan S. Kane, Donna M. Krasnewich, May Christine V. Malicdan, David R. Adams, Thomas C. Markello, Wadih...> ;Molecular Genetics and Metabolism. 2015 Jun 1
• 4 citations
  Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
  Yuri A. Zarate, Natasha Shur, Andrew Robin, Adolfo D. Garnica, Jose Bernardo Quintos, G. Bradley Schaefer> ;Journal of Pediatric Endocrinology & Metabolism. 2014 Sep 20
• 14 citations
  A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
  Elizabeth A. Sellars, Katherine A. Bosanko, Tiffany Lepard, Adolfo D. Garnica, G B Schaefer> ;Seminars in Pediatric Neurology. 2014 Jun 1
• 321 citations
  Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
  Pengfei Liu, Ayelet Erez, Sandesh C.S. Nagamani, Shweta U. Dhar, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, ...> ;Cell. 2011 Sep 16
• 429 citations
  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
  Nicola Brunetti-Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan S...> ;Nature Genetics. 2008 Dec 1
• 415 citations
  Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
  Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German, Marwan Shinawi, Sarika U. Peters, Richard E. Person, Adolfo D. Garnica, Sau Wai Cheung, Arthur L. Beaudet> ;Nature Genetics. 2008 May 25
• 38 citations
  Menkes kinky hair syndrome: Is it a treatable disorder?
  Adolfo D. Garnica, Jaime L. Frias, Owen M. Rennert> ;Clinical Genetics. 2008 Apr 23
• Placenta and growth factors in fetal growth and nutrition
  Adolfo D. Garnica, Wai-Yee Chan> ;Nutrition. 1997 Apr 1
• 63 citations
  The role of the placenta in fetal nutrition and growth.
  Adolfo D. Garnica, Wai-Yee Chan> ;Journal of the American College of Nutrition. 1996 Jun 1
• 3 citations
  Premature infant with wiedemann‐beckwith syndrome: Postnatal changes in facial appearance and somatic phenotype
  D.S.c. Constantine A. Stratakis M.D., Adolfo D. Garnica> ;American Journal of Medical Genetics. 1995 Jul 17
• 5 citations
  Copper-histidine treatment of Menkes disease.
  Adolfo D. Garnica, Wai-Yee Chan, Owen M. Rennert> ;The Journal of Pediatrics. 1994 Aug 1
• 22 citations
  Neuroimaging findings in Alexander's disease.
  Gary B. Bobele, Adolfo D. Garnica, G. Bradley Schaefer, Joe C. Leonard, Don A. Wilson, Warren A. Marks, Richard W. Leech, Roger A. Brumback> ;Journal of Child Neurology. 1990 Jul 1
• 6 citations
  Trace elements in development and disease.
  Adolfo D. Garnica, Wai-Yee Chan, Owen M. Rennert> ;Current Problems in Pediatrics. 1986 Feb 1
• 15 citations
  Vitamin D metabolism and anticonvulsant therapy: effect of sunshine on incidence of osteomalacia.
  C Williams, M Netzloff, L Folkerts, A Vargas, Adolfo D. Garnica, Jaime L. Frias> ;Southern Medical Journal. 1984 Jul 1
• 11 citations
  Polyamines in the Developing Mouse Brain
  Thomas W. Jasper, William G. Luttge, Thomas B. Benton, Adolfo D. Garnica> ;Developmental Neuroscience. 1982 Mar 1
• 1 citations
  Evaluation of a Tay-Sachs screening program on a college campus.
  Jeffrey P. Krischer, Todd L. Savitt, Spring A, S E Wallace, Adolfo D. Garnica, Jaime L. Frias> ;Southern Medical Journal. 1982 Feb 1
• 9 citations
  Increased excretion of o-hydroxymandelic acid in phenylketonuria
  Jan R. Crowley, John M. Midgley, Margaret W. Couch, Adolfo D. Garnica, Clyde M. Williams> ;Biomedical Mass Spectrometry. 1980 Aug 1
• 2 citations
  Medullary carcinoma of the thyroid in the multiple mucosal neuromas syndrome
  Michael L. Netzloff, A. D. Garnica, BM Rodgers, JL Frias> ;Annals of Clinical and Laboratory Science. 1979 Sep 1
• 7 citations
  Inducibility of metallothionein biosynthesis in cultured normal and Menkes kinky hair disease fibroblasts: effects of copper and cadmium.
  Wai-Yee Chan, Adolfo D. Garnica, Owen M. Rennert> ;Pediatric Research. 1979 Mar 1
• 2 citations
  Variable expressivity in the trichorhinophalangeal syndrome type I.
  Alvin H. Felman, Adolfo D. Garnica, Wallace Se> ;Birth Defects Original Article Series. 1979 Jan 1
• 52 citations
  Cell culture studies of menkes kinky hair disease
  Wai-Yee Chan, Adolfo D. Garnica, Owen M. Rennert> ;Clinica Chimica Acta; International Journal of Clinical Chemistry. 1978 Sep 15
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Journal Articles

• KCTD7 Deficiency Defines a Distinct Neurodegenerative Disorder with a Conserved Autophagy‐Lysosome Defect  
  Marsha Pratt, Katrina Peariso, Adam L Hartman, Adolfo Garnica, Satish Agadi, Gerard T Berry, Tobias Loddenkemper, Thomas A Burrow, Pankaj B Agrawal, Annals of Neurology