|
| 36843230 | Prenatal patient perceptions of receiving difficult news over the telephone. | | 2023 |
| 36286987 | Teaching perspectives on the communication of difficult news of genetic conditions to medical students. | American Journal of Medical Genetics, Part A | 2023 |
| 36331276 | Evolution in the clinic: Maladaptive units and "minor anomalies". | American Journal of Medical Genetics, Part A | 2023 |
| 37822198 | Causes of death in individuals with trisomy 18 after the first year of life. | | 2023 |
| 37990419 | John M Opitz: Physician, morphologist, scholar, editor (1935-2023). | | 2023 |
| 37551160 | The common trisomy syndromes, their cardiac implications, and ethical considerations in care. | Curr Opin Pediatr | 2023 |
| 36541834 | The pathogenesis of gastroschisis. | | 2023 |
| 36601988 | Seizures in trisomy 18: Prevalence, description, and treatment. | Am J Med Genet A | 2023 |
| 36919524 | Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network. | Am J Med Genet A | 2023 |
| 35119225 | Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. | Mol Genet Genomic Med | 2022 |
| 35388139 | Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. | Sci Rep | 2022 |
| 35640673 | Survival Outcomes of Infants with the Trisomy 13 or Trisomy 18 Syndromes. | Journal of Pediatrics | 2022 |
| 36062894 | Elements of morphology: Standard terminology for the trunk and limbs. | Am J Med Genet A | 2022 |
| 35916866 | De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. | Genet Med | 2022 |
| 34478656 | Response to Hamosh et al. | Am J Hum Genet | 2021 |
| 33913595 | Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr. | American Journal of Medical Genetics, Part A | 2021 |
| 33750000 | Parent-reported histories of adults with trisomy 13 syndrome. | American Journal of Medical Genetics, Part A | 2021 |
| 34002939 | The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology. | American Journal of Medical Genetics, Part A | 2021 |
| 33949758 | Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study. | American Journal of Medical Genetics, Part A | 2021 |
| 33982855 | Reflections on observing faces in art. | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2021 |
| 33760347 | Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals. | American Journal of Medical Genetics, Part A | 2021 |
| 33599369 | Parent-authored memoirs: Lessons in the practice of narrative medicine. | American Journal of Medical Genetics, Part A | 2021 |
| 34311488 | Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care? | American Journal of Perinatology | 2021 |
| 34245497 | A celebration in honor of John M. Graham, Jr, MD, ScD. | American Journal of Medical Genetics, Part A | 2021 |
| 33226174 | Maternal diabetes-related malformations in Utah: A population study of birth prevalence 2001-2016. | Birth Defects Research | 2021 |
| 33417889 | A dyadic approach to the delineation of diagnostic entities in clinical genomics. | Am J Hum Genet | 2021 |
| 34645894 | Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. | Sci Rep | 2021 |
| 33274544 | Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. | Am J Med Genet C Semin Med Genet | 2020 |
| 32424177 | Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. | Genet Med | 2020 |
| 31769173 | International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. | Am J Med Genet A | 2020 |
| 31609083 | Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes. | American Journal of Medical Genetics, Part A | 2020 |
| 33320219 | Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis-Reply. | JAMA - Journal of the American Medical Association | 2020 |
| 33154040 | Novel de novo intronic variant causes rhizomelic short stature with microretrognathia and developmental delay. | Cold Spring Harbor molecular case studies | 2020 |
| 32511891 | Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. | Mol Genet Genomic Med | 2020 |
| 32735311 | Exome Sequencing and Clinical Diagnosis. | JAMA - Journal of the American Medical Association | 2020 |
| 33173897 | gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. | | 2020 |
| 30773277 | Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. | Am J Hum Genet | 2019 |
| 30291384 | Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease. | Pediatric Cardiology | 2019 |
| 30650051 | Testicular Seminoma in a Transgender Woman: A Case Report. | LGBT Health | 2019 |
| 30637956 | Solid tumor screening recommendations in trisomy 18. | American Journal of Medical Genetics, Part A | 2019 |
| 30779713 | Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. | JCI Insight | 2019 |
| 29575629 | Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss. | American Journal of Medical Genetics, Part A | 2018 |
| 28438404 | Quantitative Ultrasound and Tibial Dysplasia in Neurofibromatosis Type 1. | Journal of Clinical Densitometry | 2018 |
| 30439704 | Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey. | Cytogenetic and Genome Research | 2018 |
| 30055082 | M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018). | Am J Med Genet A | 2018 |
| 30289612 | Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature. | American Journal of Medical Genetics, Part A | 2018 |
| 29951717 | Training Methods for Delivering Difficult News in Genetic Counseling and Genetics Residency Training Programs. | Journal of Genetic Counseling | 2018 |
| 29477837 | A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. | Epilepsy and Behavior | 2018 |
| 29432982 | Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. | European Journal of Medical Genetics | 2018 |
| 27639443 | Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome. | Eur J Med Genet | 2017 |