WilliamG.WilsonMD

PubMed

• Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.
  Omar Elghawy, Alice Y. Zhang, Ryan Duong, William G. Wilson, Eugene Y. Shildkrot> ;Case Reports in Ophthalmological Medicine. 2021 Oct 9
• 12 citations
  BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
  Elisabeth Bosch, Moritz Hebebrand, Bernt Popp, Theresa Penger, Bettina Behring, Helen Cox, Shelley Towner, Cornelia Kraus, William G. Wilson, Shagufta Khan, Mandy Krum...> ;The Journal of Clinical Endocrinology and Metabolism. 2021 Aug 12
• 7 citations
  Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy
  Egidio Spinelli, Kyle R Christensen, Emily Bryant, Amy L Schneider, Jennifer Rakotomamonjy, Alison M. Muir, Jessica Giannelli, Rebecca O. Littlejohn, Elizabeth Roeder,...> ;Annals of Neurology. 2021 Aug 1
• 29 citations
  Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
  Dmitrijs Rots, Eric Chater-Diehl, Alexander J. M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh...> ;American Journal of Human Genetics. 2021 Jun 3
• 21 citations
  The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
  Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet-Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance S...> ;Genetics in Medicine. 2021 Feb 1
• 8 citations
  Training the next generation of genomic medicine providers: trends in medical education and national assessment.
  Shoumita Dasgupta, Gerald L. Feldman, Cynthia M. Powell, Helga V. Toriello, Judith A. Westman, William G. Wilson, Darrel Waggoner> ;Genetics in Medicine. 2020 Jun 18
• 24 citations
  Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
  Karen M Knapp, Rosie Sullivan, Jennie E. Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G. Wilson, Andrew P. Jackson, Carlos Ferreira,...> ;Journal of Medical Genetics. 2020 Mar 1
• 6 citations
  Defining the clinical phenotype of Saul-Wilson syndrome.
  Carlos Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth I. Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa A. Merideth, Daniel R. Ca...> ;Genetics in Medicine. 2020 Jan 17
• 32 citations
  MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
  Christopher C.Y. Mak, Dan Doherty, Angela E. Lin, Nancy Vegas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld-Adams, Davor Lessel, Shelagh Joss,...> ;Brain. 2020 Jan 1
• 9 citations
  A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient
  Natascia Malerba, Shelley Towner, Katherine Keating, Gabriella Maria Squeo, William G. Wilson, Giuseppe Merla> ;Frontiers in Genetics. 2018 Dec 12
• 1 citations
  COMMENTARY-The Saul-Wilson syndrome from its early days until now.
  Robert A. Saul, William G. Wilson> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 31 citations
  Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
  Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando J. Corrales, María L. Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Debo...> ;Orphanet Journal of Rare Diseases. 2015 Aug 20
• 8 citations
  White matter changes in an untreated, newly diagnosed case of classical homocystinuria.
  J. Nicholas Brenton, Julie A. Matsumoto, Robert S. Rust, William G. Wilson> ;Journal of Child Neurology. 2014 Jan 1
• 46 citations
  Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
  Ian M. Campbell, Svetlana A. Yatsenko, Patricia Hixson, Tyler Reimschisel, Matthew J Thomas, William G. Wilson, Usha Dayal, James W. Wheless, Amy Crunk, Cynthia J. Cur...> ;Genetics in Medicine. 2012 Jun 21
• 8 citations
  Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.
  Lindsay Paull, Michael J. Lipinski, William G. Wilson, Shawn E. Lipinski> ;JIMD Reports. 2011 Dec 6
• 6 citations
  Extrapontine Myelinolysis Resulting in Transient Cortical Blindness
  Jennifer E. Langer, William G. Wilson, Prashant Raghavan, Robert S. Rust, Howard P. Goodkin> ;Pediatric Neurology. 2010 Feb 1
• 25 citations
  Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa.
  Shawn E. Lipinski, Michael J. Lipinski, Autumn Burnette, Thomas A.E. Platts-Mills, William G. Wilson> ;Molecular Genetics and Metabolism. 2009 Nov 1
• Encomium to accompany "Living history--biography: an undifferentiated pediatrician".
  William G. Wilson> ;American Journal of Medical Genetics. Part A. 2009 Mar 1
• 3 citations
  Lobar holoprosencephaly presenting as spastic diplegia.
  Daniel E. Shanks, William G. Wilson> ;Developmental Medicine and Child Neurology. 2008 Nov 12
• 1 citations
  Marfan and cri du chat syndromes in an 18‐month‐old child: evidence of phenotype interaction
  Michael W. McClellan, Wendy L. Golden, William G. Wilson> ;Clinical Genetics. 2008 Jun 28
• Genetic testing and primary care.
  Shawn E. Lipinski, Michael J. Lipinski, William G. Wilson> ;JAMA. 2008 May 21
• 35 citations
  Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
  Mohamad M. Al-Rahawan, Deborah J. Chute, Katia Sol-Church, Karen W. Gripp, Deborah L. Stabley, Nancy McDaniel, William G. Wilson, Peter E. Waldron> ;American Journal of Medical Genetics. Part A. 2007 Jul 1
• 64 citations
  Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome†‡§
  Karen W. Gripp, Angela E. Lin, Linda Nicholson, William Allen, Andrea Cramer, Kenneth L. Jones, Wendy Kutz, Dawn Peck, Michael A. Rebolledo, Patricia G. Wheeler, Willi...> ;American Journal of Medical Genetics. Part A. 2007 Jul 1
• 64 citations
  In Vitro and in Vivo Interactions of Homocysteine with Human Plasma Transthyretin
  Amareth Lim, Shantanu Sengupta, Mark E. McComb, Roger Théberge, William G. Wilson, Catherine E. Costello, Donald W. Jacobsen> ;The Journal of Biological Chemistry. 2003 Dec 12
• 52 citations
  Childhood‐onset ataxia: Testing for large CAG‐repeats in SCA2 and SCA7
  Rong Mao, Arthur S. Aylsworth, Nicholas T. Potter, William G. Wilson, Galen Breningstall, Myra J. Wick, Dusica Babovic-Vuksanovic, Martha Nance, Marc C. Patterson, Chr...> ;American Journal of Medical Genetics. 2002 Jul 15
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