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| 33875766 | High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. | J Hum Genet | 2021 |
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| 33630210 | Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification. | Geroscience | 2021 |
| 34766919 | A Semiautomated Chart Review for Assessing the Development of Radiation Pneumonitis Using Natural Language Processing: Diagnostic Accuracy and Feasibility Study. | JMIR Med Inform | 2021 |
| 33982378 | The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth. | Am J Med Genet C Semin Med Genet | 2021 |
| 34050599 | Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme. | Am J Med Genet C Semin Med Genet | 2021 |
| 33432185 | Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. | Nat Genet | 2021 |
| 33135837 | Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai. | Am J Med Genet C Semin Med Genet | 2021 |
| 32196822 | Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. | Hum Mutat | 2020 |
| 31868316 | Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. | Am J Med Genet C Semin Med Genet | 2020 |
| 31809437 | Risk of Stillbirth for Fetuses With Specific Birth Defects. | Obstet Gynecol | 2020 |
| 31837202 | Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. | Am J Med Genet A | 2020 |
| 31834374 | MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. | Brain | 2020 |
| 32034419 | Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. | J Clin Endocrinol Metab | 2020 |
| 32989326 | Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. | Nat Genet | 2020 |
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| 32324694 | Anogenital High-Grade Squamous Intraepithelial Lesion Comorbid With Vulvar Lichen Sclerosus and Lichen Planus. | J Low Genit Tract Dis | 2020 |
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| 31259454 | Cardiac transplantation in children with Noonan syndrome. | Pediatr Transplant | 2019 |
| 31222966 | Costello syndrome: Clinical phenotype, genotype, and management guidelines. | Am J Med Genet A | 2019 |
| 31563903 | Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic. | Horm Res Paediatr | 2019 |
| 31418527 | Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years. | Am J Med Genet A | 2019 |
| 31159903 | Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011. | Cardiol Young | 2019 |
| 30633443 | "Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome. | Am J Med Genet C Semin Med Genet | 2019 |
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| 30244195 | Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic Telangiectasia. | J Med Genet | 2018 |
| 30055082 | M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018). | Am J Med Genet A | 2018 |
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| 30079495 | Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. | Am J Med Genet A | 2018 |
| 29980640 | FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. | Neurology | 2018 |
| 30580486 | Nablus syndrome: Easy to diagnose yet difficult to solve. | Am J Med Genet C Semin Med Genet | 2018 |