Publications by authors named "Marcia Willing"

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CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Hussam Al-Kateb, P Y Billie Au, Siren Berland, Benjamin Cogne, Florence Demurger, Marcia Willing

Clin Genet· March 2024

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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, Marcia C Willing

Genet Med· March 2023

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Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Josephina A N Meester, Silke Peeters, Lotte Van Den Heuvel, Geert Vandeweyer, Erik Fransen, Marcia Willing

Genet Med· May 2022

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing

Eur J Hum Genet· January 2022

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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, Marcia C Willing

Am J Med Genet A· July 2021

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Marcia Willing

Genet Med· June 2021

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Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Jorge L Granadillo, Daniel J Wegner, Alexander J Paul, Marcia Willing, Kathleen Sisco

Am J Med Genet A· February 2021

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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, Marcia Willing

Am J Hum Genet· February 2021

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Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.
Laura Bryant, Dong Li, Samuel G Cox, Dylan Marchione, Evan F Joiner, Marcia C Willing

Sci Adv· December 2020

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Ectopia lentis in Loeys-Dietz syndrome type 4.
Alan C Braverman, Kevin J Blinder, Sangeeta Khanna, Marcia Willing

Am J Med Genet A· August 2020

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Marcia Willing

Genet Med· March 2020

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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, Marcia Willing

Genet Med· March 2020

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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, Marcia C Willing

Nat Commun· January 2020

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Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Marcia Willing

Hum Mutat· October 2019

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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, Marcia Willing

Eur J Hum Genet· May 2019

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Author Correction: 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, Marcia Willing

Nat Commun· May 2019

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Author Correction: 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, Marcia Willing

Nat Commun· February 2019

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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, Marcia Willing

Am J Hum Genet· January 2019

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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

Am J Hum Genet· December 2018

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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, Marcia Willing

Nat Commun· November 2018

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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, Marcia Willing

Genet Med· September 2017

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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, Marcia Willing

Circulation· September 2017

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encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Marcia C Willing

J Med Genet· July 2017

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Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries.
Scott Eckert, Eleanor Feingold, Margaret Cooper, Michael M Vanyukov, Brion S Maher, Marcia C Willing

J Hum Genet· April 2017

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Marcia C Willing

J Clin Invest· March 2017

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