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Human Molecular Genetics|March 12, 2015
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasiaHoward M Saal, Cynthia A Prows, Iris Guerreiro, et al.
Genesis (New York, N.Y. : 2000)|October 31, 2018
Using human sequencing to guide craniofacial researchRyan P Liegel, Erin Finnerty, Lauren Blizzard, et al.
Human Mutation|September 11, 2014
Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletionsHildegard Kehrer-Sawatzki, Kathrin Bengesser, Tom Callens, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|September 20, 2011
Neonates with tongue-based airway obstruction: a systematic reviewLaurel B Bookman, Kristin R Melton, Brian S Pan, et al.
Birth Defects Research|September 16, 2020
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytesKatherine Abell, Leandra Tolusso, Nicki Smith, et al.
Orphanet Journal of Rare Diseases|August 9, 2020
Characterization of tracheobronchomalacia in infants with hypophosphatasiaRaja Padidela, Robert Yates, Dan Benscoter, et al.
American Journal of Medical Genetics. Part A|September 27, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implicationsK Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, et al.
Molecular Genetics and Metabolism|September 11, 2017
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfaPriya S Kishnani, Eric T Rush, Paul Arundel, et al.
The Journal of Allergy and Clinical Immunology|July 22, 2015
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndromeAndrew W Lindsley, Howard M Saal, Thomas A Burrow, et al.
Molecular Genetics & Genomic Medicine|September 8, 2019
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic featuresBianca E Russell, Diana Rigueur, Kathryn N Weaver, et al.
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