Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium. Genetics in Medicine. 2024; 26:101176.
.Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease. Human Genetics and Genomics Advances. 2024; 5:100286.
.De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American Journal of Medical Genetics, Part A. 2024; 194:e63559.
.Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American Journal of Medical Genetics, Part A. 2024; 194:e63567.
.Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Genetics in Medicine. 2024; 26:101118.
.Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Journal of the American Medical Association (JAMA). 2024; 331:1276-1278.
.Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. Human Genetics and Genomics Advances. 2024; 5:100282.
.Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. The American Journal of Human Genetics. 2024; 111:621-623.
.Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. Nature Genetics. 2024; 56:555-556.
.Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. The Journal of Clinical Investigation. 2024; 134.
.2024; 2:101624.
. P720: Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon.Elsevier; Elsevier; 2024.
. Case 11.12.2 Neurodevelopmental Cases: Delayed Speech, Polydactyly, and Short Stature. Genomics in the Clinic. :2024; 2:101190.
. P294: Exploring episignatures as a potential diagnostic tool for diabetic embryopathy.Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. npj Genomic Medicine. 2023; 8:10.
.Embracing the Science of Motherhood: Pregnancy's Transformative Effects on the Central Nervous System and the Radiance of Maternal Hormones and Immune Responses. Discovery medicine. 2023; 35:673-696.
.Genetics in Pediatric Practice. Pediatric Clinics of North America. 2023; 70:xvii-xix.
.Genetics in Pediatric Practice: From Baby Steps to Running Fast. Pediatric Clinics of North America. 2023; 70:885-894.
.Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic Genetics (Informa). 2023; 44:486-490.
.Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study. Genetics in Medicine. 2023; 25:100899.
.Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genetics in Medicine. 2023; 25:100863.
.Parent-Reported Clinical Utility of Pediatric Genomic Sequencing. Pediatrics. 2023; 152.
.Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update. Neurology. 2023; 101:e103-e113.
.Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome. Frontiers in Genetics. 2023; 14:1116919.
.Utility of genetic work-up for 46, XY patients with severe hypospadias. Journal of Pediatric Urology. 2023; 19:261-272.
.POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. The American Journal of Human Genetics. 2023; 110:809-825.
.Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. The American Journal of Human Genetics. 2023; 110:551-564.
.Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. American Journal of Medical Genetics, Part A. 2023; 191:930-940.
.TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American Journal of Medical Genetics, Part A. 2023; 191:1077-1082.
.2023; 1:100647.
. O40: Clinical utility of prenatal exome sequencing in a diverse cohort*.Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients. Clinical Genetics: an international journal of genetics and molecular medicine. 2023; 103:97-102.
.2023; 228:s750-s751.
. Deep phenotyping expands our knowledge of fetal manifestations of genetic disease. American Journal of Obstetrics and Gynecology.2023; 1:100648.
. O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort.Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. Genome Medicine: medicine in the post-genomic era. 2022; 14:131.
.Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Nature Communications. 2022; 13:6841.
.Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy. International Journal of Molecular Sciences. 2022; 23.
.Predicting genes from phenotypes using human phenotype ontology (HPO) terms. Human Genetics. 2022; 141:1749-1760.
.Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. Genetics in Medicine. 2022; 24:2014-2027.
.Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human Molecular Genetics. 2022; 31:3083-3094.
.De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine. 2022; 24:1952-1966.
.Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Journal of medical genetics. 2022; 59:865-877.
.Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma. American Journal of Medical Genetics, Part A. 2022; 188:2766-2771.
.Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. American Journal of Medical Genetics, Part A. 2022; 188:2724-2731.
.Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. American Journal of Medical Genetics, Part A. 2022; 188:2479-2484.
.Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. American Journal of Medical Genetics, Part A. 2022; 188:1997-2004.
.Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome. Molecular Syndromology. 2022; 13:337-342.
.Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach. Genetics in Medicine. 2022; 24:1206-1216.
.Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review. European Journal of Medical Genetics. 2022; 65:104496.
.S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome. EMBO Molecular Medicine. 2022; 14:e14904.
.Preference for secondary findings in prenatal and pediatric exome sequencing. Prenatal Diagnosis. 2022; 42:753-761.
.The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research. Genetics in Medicine. 2022; 24:410-418.
.Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A. European Journal of Medical Genetics. 2022; 65:104407.
.US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER). Genetics in Medicine. 2022; 24:238-244.
.Application of full-genome analysis to diagnose rare monogenic disorders. npj Genomic Medicine. 2021; 6:77.
.Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Medicine. 2021; 19:199.
.Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Medicine: medicine in the post-genomic era. 2021; 13:90.
.Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American Journal of Medical Genetics, Part A. 2021; 185:3446-3458.
.Response to Hamosh et al. The American Journal of Human Genetics. 2021; 108:1809-1810.
.Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal of Human Genetics. 2021; 29:1405-1417.
.Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genetics in Medicine. 2021; 23:1604-1615.
.Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Clinical Genetics: an international journal of genetics and molecular medicine. 2021; 100:93-99.
.Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genetics in Medicine. 2021; 23:1356-1365.
.New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation. 2021; 42:862-876.
.Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. The American Journal of Human Genetics. 2021; 108:1138-1150.
.Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. The American Journal of Human Genetics. 2021; 108:1053-1068.
.Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American Journal of Medical Genetics, Part A. 2021; 185:1649-1665.
.Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome. The Laryngoscope. 2021; 131:E2053-E2059.
.2021; 41:91-92.
. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. Retinal Cases and Brief Reports. 2021; 15:324-329.
.Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results. Clinical Genetics: an international journal of genetics and molecular medicine. 2021; 99:638-649.
.2021; 132:s185.
. eP293 Homozygous PISD truncating variant in an adult patient presenting with chronic dysphagia, hoarseness, pectus carinatum, hearing loss, and hemiparesis. Molecular Genetics and Metabolism.De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine. 2021; 23:653-660.
.2021; 132:s149.
. eP233 Predicting genes from phenotypes using Human Phenotype Ontology (HPO) terms. Molecular Genetics and Metabolism.2021; 76:139-141.
. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. Obstetrical and Gynecological Survey.Wiley; Wiley; 2021.
. BARDET–BIEDL SYNDROME. Cassidy and Allanson's Management of Genetic Syndromes. :2021; 224:s635-s636.
. 1027 Diagnostic yield of exome sequencing in prenatal diagnosis. American Journal of Obstetrics and Gynecology.A dyadic approach to the delineation of diagnostic entities in clinical genomics. The American Journal of Human Genetics. 2021; 108:8-15.
.2021; 190:s10-s11.
. Pregnancy outcomes following exposure to onabotulinumtoxinA update: 29 years of safety observation. Toxicon.Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Human Molecular Genetics. 2021; 29:1068-1082.
.The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients. American Journal of Medical Genetics, Part A. 2020; 182:2959-2963.
.Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clinical Genetics: an international journal of genetics and molecular medicine. 2020; 98:499-506.
.Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. The New England Journal of Medicine. 2020; 383:1746-1756.
.Automated syndrome diagnosis by three-dimensional facial imaging. Genetics in Medicine. 2020; 22:1682-1693.
.Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech. American Journal of Medical Genetics, Part A. 2020; 182:2003-2004.
.A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. European Journal of Medical Genetics. 2020; 63:103969.
.Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human Molecular Genetics. 2020; 29:2218-2239.
.Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. American Journal of Medical Genetics, Part A. 2020; 182:1923-1932.
.Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine. 2020; 22:1215-1226.
.Going forward in a new world. American Journal of Medical Genetics, Part A. 2020; 182:1553-1554.
.Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. Journal of Human Genetics. 2020; 65:487-491.
.Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. European Journal of Medical Genetics. 2020; 63:103850.
.A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. American Journal of Medical Genetics, Part A. 2020; 182:513-520.
.Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS). Genetics in Medicine. 2020; 22:283-291.
.2020; 222:s68-s69.
. 83: HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis. American Journal of Obstetrics and Gynecology.Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 2020; 57:132-136.
.2020; 222:s561.
. 904: Agreement to secondary findings with exome sequencing in pre- and postnatal settings. American Journal of Obstetrics and Gynecology.Modeling Pathogenic Variants in the RNA Exosome. RNA & DISEASE. 2020; 7.
.