MarciaCWillingMD

PubMed

• 1 citations
  A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
  Ying-Chen Claire Hou, Michael J Evenson, Meagan M Corliss, Lily Mahapatra, Ali Aldawood, David F Carpentieri, Sarah L Chamlin, Ann M Kulungowski, Suneeta Madan-Khetarp...> ;Genetics in Medicine. 2023 Mar 1
• 11 citations
  Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome ...
  Josephina A N Meester, Silke Peeters, Lotte Van Den Heuvel, Geert Vandeweyer, Erik Fransen, Elizabeth Cappella, Harry C Dietz, Geoffrey Forbus, Bruce D Gelb, Elizabeth...> ;Genetics in Medicine. 2022 May 1
• 3 citations
  ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
  Ange Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia C. Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein,...> ;European Journal of Human Genetics. 2021 Oct 28
• 3 citations
  Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
  Kristen K Rosano, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Robert C. Bucelli, Sonika Dahiya, Frances V. White, Marcia C. Willing, William McAllister, Ryan J...> ;American Journal of Medical Genetics. Part A. 2021 May 1
• 24 citations
  Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Genetics in Medicine. 2021 Mar 3
• 9 citations
  Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
  Jorge L. Granadillo, Daniel J. Wegner, Alexander J. Paul, Marcia C. Willing, Kathleen Sisco, Matthew L. Tedder, Bekim Sadikovic, Jennifer A. Wambach, Dustin Baldridge,...> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 22 citations
  Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
  Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J. M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan M. Amudhavalli, Siddharth Banka, F...> ;American Journal of Human Genetics. 2021 Feb 4
• 51 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 7 citations
  Ectopia lentis in Loeys‐Dietz syndrome type 4
  Alan C. Braverman, Kevin J. Blinder, Sangeeta Khanna, Marcia C. Willing> ;American Journal of Medical Genetics. Part A. 2020 May 28
• 1 citations
  Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 May 1
• 50 citations
  POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
  Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gatinois, Marie Vincent, Catherin...> ;Genetics in Medicine. 2020 Mar 1
• 17 citations
  Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
  Ash Zawerton, Cyril Mignot, Ashley N. Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabe...> ;Genetics in Medicine. 2020 Mar 1
• 18 citations
  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 Feb 1
• 28 citations
  Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
  Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong Teck Tan, Michelle Eio, Gunaseelan Narayana...> ;Nature Communications. 2020 Jan 30
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Snijders Blok, L.,Rousseau, J.,Twist, J.,Ehresmann, S.,Takaku, M.,Venselaar, H.,Rodan, L. H.,Nowak, C. B.,Douglas, J.,Swoboda, K. J.,Steeves, M. A.,Sahai, I.,Stumpel, ...> ;Nat Commun. 2019 May 03
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Blok, L. S.,Rousseau, J.,Twist, J.,Ehresmann, S.,Takaku, M.,Venselaar, H.,Rodan, L. H.,Nowak, C. B.,Douglas, J.,Swoboda, K. J.,Steeves, M. A.,Sahai, I.,Stumpel, CTRM.,...> ;Nat Commun. 2019 Feb 17
• 20 citations
  De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
  Sandra Jansen, Ilse M. van der Werf, A. Micheil Innes, Alexandra Afenjar, Pankaj B. Agrawal, Ilse J. Anderson, Paldeep S. Atwal, Ellen van Binsbergen, Marie José H. Va...> ;European Journal of Human Genetics. 2019 Jan 24
• 50 citations
  Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
  Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nich...> ;American Journal of Human Genetics. 2019 Jan 3
• 36 citations
  Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
  Jennifer A. Wambach, Daniel J. Wegner, Nivedita Patni, Martin Kircher, Marcia C. Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Ch...> ;American Journal of Human Genetics. 2018 Dec 6
• 60 citations
  CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
  Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine Nowak, Jessica Douglas, Kathryn J. Swobo...> ;Nature Communications. 2018 Nov 5
• 149 citations
  Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
  Mustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga, Maria R. Cordisco, Wendy K. Chung, Josée Dubois, Jean-Philippe Lacour, Loreto Marto...> ;Circulation. 2017 Sep 12
• 69 citations
  The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
  Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L. Toler, Emily Fassi, Elise Fiala, Sarah K. Brown, Charles W. Goss, Marcia C. Willing, Dorot...> ;Genetics in Medicine. 2017 Mar 2
• 126 citations
  Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
  Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, Davi...> ;The Journal of Clinical Investigation. 2017 Mar 1
• 11 citations
  Genetic Association of MMP10, MMP14, and MMP16 with Dental Caries.
  D. D. Lewis, John R. Shaffer, Eleanor Feingold, Margaret E. Cooper, Michael M. Vanyukov, Brion S. Maher, Rebecca L. Slayton, Marcia C. Willing, Steven E. Reis, Daniel ...> ;International Journal of Dentistry. 2017 Feb 28
• 7 citations
  Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries.
  Scott A. Eckert, Eleanor Feingold, Margaret E. Cooper, Michael M. Vanyukov, Brion S. Maher, Rebecca L. Slayton, Marcia C. Willing, Steven E. Reis, Daniel W. McNeil, Ri...> ;Journal of Human Genetics. 2017 Jan 19
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