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Author Details

Howard M Saal
Cincinnati Children's Hospital Medical Center
1985
115
37
PMIDPaper TitleJournal TitlePublished Year
34569146Robin sequence without cleft palate: Genetic diagnoses and management implications.Am J Med Genet A2022
35342457Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.Ther Adv Musculoskelet Dis2022
36107167Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.Genet Med2022
32405903Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?J Autism Dev Disord2021
34341520Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.Genet Med2021
33247512Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.Am J Med Genet A2021
33189935CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.Eur J Med Genet2021
33386319Fetal Micrognathia and Airway Establishment on Placental Support.Neoreviews2021
32935482Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.Birth Defects Res2020
32891212Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.Lancet2020
32888375Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.Am J Med Genet C Semin Med Genet2020
30375152Using human sequencing to guide craniofacial research.Genesis2019
31271950The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia.J Neurol Sci2019
31493347Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.Mol Genet Genomic Med2019
29034736Family History Collection Practices: National Survey of Pediatric Primary Care Providers.Clin Pediatr (Phila)2018
29541808Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.Pediatr Radiol2018
28888853Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.Mol Genet Metab2017
28395282Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.Horm Res Paediatr2017
26194542Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.J Allergy Clin Immunol2016
26645533Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy.Otolaryngol Head Neck Surg2016
26581443A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.Am J Med Genet A2016
26306646The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Eur J Hum Genet2016
27871226Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.BMC Med Genet2016
27712809Genetic Evaluation for Craniofacial Conditions.Facial Plast Surg Clin North Am2016
27429161Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.JAMA Pediatr2016
26987801Retrospective Study of Obesity in Children with Down Syndrome.J Pediatr2016
25415058Small bowel malrotation in distal 15q duplication: evidence for a rare association.Clin Dysmorphol2015
26477869Primary Care Providers' Initial Evaluation of Children with Global Developmental Delay: A Clinical Vignette Study.J Pediatr2015
26233602The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.J Pediatr2015
26120313Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.Case Rep Neurol2015
26140447Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.Am J Hum Genet2015
25913037Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.Am J Hum Genet2015
25759469A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.Hum Mol Genet2015
25772936Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.Am J Hum Genet2015
24243712Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.Am J Med Genet A2014
25205021Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.Hum Mutat2014
25052512Cost analysis of mandibular distraction versus tracheostomy in neonates with Pierre Robin sequence.Otolaryngol Head Neck Surg2014
25102973Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.Prenat Diagn2014
24951267Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.Breast Cancer Res Treat2014
24060002Prevalence of transposed teeth as seen on panoramic radiographs in children with cleft lip and palate.Cleft Palate Craniofac J2014
23344421Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation.Obstet Gynecol2013
24081994Health supervision for children with Marfan syndrome.Pediatrics2013
24136669The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation.Breast Cancer Res Treat2013
23907645Recommendations for returning genomic incidental findings? We need to talk!Genet Med2013
24025597Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?Int J Pediatr Endocrinol2013
21926259Neonates with tongue-based airway obstruction: a systematic review.Otolaryngol Head Neck Surg2012
22791840Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.J Med Genet2012
22791212Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing.Genet Med2012
21996156Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.J Pediatr2012
19860519Parental perspectives of children born with cleft lip and/or palate: a qualitative assessment of suggestions for healthcare improvements and interventions.Cleft Palate Craniofac J2010
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Collaborators

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Segal Cancer Centre, Jewish General Hospital
Co-authored papers 8
Pomeranian Medical University
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Co-authored papers 5
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Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital
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Johns Hopkins University
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Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
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The Perelman School of Medicine at the University of Pennsylvania
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Fondazione IRCCS Istituto Nazionale dei Tumori
Co-authored papers 3
Mayo Clinic
Co-authored papers 3
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University of Michigan School of Medicine ann arbor
Co-authored papers 3
Co-authored papers 2
Harvard Medical School
Co-authored papers 2
University of Utah
Co-authored papers 2
University of Washington School of Medicine.
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Co-authored papers 2
International Hereditary Cancer Center, Pomeranian Medical University
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Maastricht University Medical Centre
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