Publications by authors named "Anne Hing"

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Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.
Emily R Gallagher, Penny Chow, Maria R Mills, Hazel Perry, Allison C Tam, Anne Hing

Cleft Palate Craniofac J· October 2025

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Partners in African Cleft Training (PACT): Evolution of a Partnership Supporting Sustainable Interdisciplinary Cleft Team Care in Sub-Saharan Africa.
Anne Hing, Craig Birgfeld, Richard Hopper, Mekonen Eshete Abebe, Shiferaw Degu Berbirssa

Cleft Palate Craniofac J· April 2025

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Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.
Matthew Hodapp, Anne V Hing, Emily Gallagher, Matthew Blessing, Michael L Cunningham

Am J Med Genet A· October 2023

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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Anne Hing

Ann Clin Transl Neurol· June 2023

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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Anne Hing

Am J Med Genet A· May 2023

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Anne Hing

Sci Adv· March 2023

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Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Daniel Quiat, Andrew T Timberlake, Justin J Curran, Michael L Cunningham, Barbara McDonough, Anne V Hing

Genet Med· January 2023

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Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
Tara L Wenger, Jonathan Perkins, Julia Parish-Morris, Anne V Hing, Maida L Chen

Am J Med Genet A· December 2021

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Sotos syndrome with a novel mutation in the gene associated with congenital hypothyroidism.
Arushi Verma, Parisa Salehi, Anne Hing, Alissa Jeanne Curda Roberts

Int J Pediatr Adolesc Med· September 2021

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Targeted long-read sequencing identifies missing disease-causing variation.
Danny E Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Anne V Hing

Am J Hum Genet· August 2021

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Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Andrew T Timberlake, Casey Griffin, Carrie L Heike, Anne V Hing, Michael L Cunningham

Nat Commun· August 2021

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De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Dong Li, Alanna Strong, Kaitlyn M Shen, David Cassiman, Maria Van Dyck, Anne Hing

Genet Med· April 2021

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Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Nancy Vegas, Karen Low, Christopher C Y Mak, Jasmine L F Fung, Anne V Hing

Brain· March 2021

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Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Liza L Cox, Timothy C Cox, Lina M Moreno Uribe, Ying Zhu, Chika T Richter, Anne V Hing

Am J Hum Genet· June 2018

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Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Anne Hing

Eur J Hum Genet· February 2018

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Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Anne V Hing

Am J Med Genet A· February 2017

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Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
Tara L Wenger, John Dahl, Elizabeth J Bhoj, Anna Rosen, Donna McDonald-McGinn, Anne Hing

Genet Med· January 2017

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Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.
Carrie L Heike, Erin Wallace, Matthew L Speltz, Babette Siebold, Martha M Werler, Anne V Hing

Birth Defects Res A Clin Mol Teratol· November 2016

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Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Dagmar Wieczorek, William G Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, Anne Hing

Am J Hum Genet· December 2014

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Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
Joshua D Smith, Anne V Hing, Christine M Clarke, Nathan M Johnson, Francisco A Perez

Am J Hum Genet· August 2014

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Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies.
Craig B Birgfeld, Carrie L Heike, Babette S Saltzman, Anne V Hing

Plast Reconstr Surg Glob Open· October 2013

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Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
Kelly N Evans, Joseph S Gruss, Paritosh C Khanna, Michael L Cunningham, Timothy C Cox, Anne V Hing

Am J Med Genet A· June 2013

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Making the diagnosis: metopic ridge versus metopic craniosynostosis.
Craig B Birgfeld, Babette S Saltzman, Anne V Hing, Carrie L Heike, Paritosh C Khanna

J Craniofac Surg· January 2013

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