Publications Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans; Jan 13, 2026; pubmed:41530147. View Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans on PubMed Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU; Jan 12, 2026; pubmed:41526681. View Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU on PubMed Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies; Jan 8, 2026; pubmed:41502561. View Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies on PubMed Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives; Dec 20, 2025; pubmed:41420489. View Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives on PubMed Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts; Dec 17, 2025; pubmed:41404459. View Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts on PubMed Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions; Nov 26, 2025; pubmed:41292655. View Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions on PubMed Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies; Nov 24, 2025; pubmed:41282252. View Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies on PubMed Expanding Access to Genomic Sequencing in the Neonatal Intensive Care Unit: A Roadmap to Discharge and Beyond; Nov 18, 2025; pubmed:41252502. View Expanding Access to Genomic Sequencing in the Neonatal Intensive Care Unit: A Roadmap to Discharge and Beyond on PubMed Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function; Oct 22, 2025; pubmed:41125872. View Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function on PubMed Toward Same-Day Genome Sequencing in the Critical Care Setting; Oct 15, 2025; pubmed:41091060. View Toward Same-Day Genome Sequencing in the Critical Care Setting on PubMed Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause; Sep 17, 2025; pubmed:40959693. View Lethal neonatal acidosis: Multiomic investigation of a novel <em>HIBCH</em> variant as the underlying cause on PubMed Supporting Parents of Infants With Chronic Critical Illness in the Transition From NICU to Home; Aug 27, 2025; pubmed:40862930. View Supporting Parents of Infants With Chronic Critical Illness in the Transition From NICU to Home on PubMed Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units; Aug 16, 2025; pubmed:40817795. View Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units on PubMed An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis; Jun 15, 2025; pubmed:40518318. View An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis on PubMed Long-read sequencing is required for precision diagnosis of incontinentia pigmenti; Jun 14, 2025; pubmed:40515401. View Long-read sequencing is required for precision diagnosis of incontinentia pigmenti on PubMed Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype; Apr 9, 2025; pubmed:40202083. View Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype on PubMed Rare disease narratives on social media: A content analysis; Mar 21, 2025; pubmed:40115594. View Rare disease narratives on social media: A content analysis on PubMed Presentation and Longer-Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis; Feb 25, 2025; pubmed:39995092. View Presentation and Longer-Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis on PubMed Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti; Feb 20, 2025; pubmed:39975911. View Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti on PubMed Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations; Jan 28, 2025; pubmed:39872006. View Uncovering somatic mosaic variants of <em>PIK3CA</em>-related overgrowth disorders - three cases with different clinical presentations on PubMed Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data; Jan 8, 2025; pubmed:39777698. View Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data on PubMed Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics; Dec 21, 2024; pubmed:39707934. View Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics on PubMed Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study; Dec 19, 2024; pubmed:39700446. View Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study on PubMed A novel syndrome associated with prenatal fentanyl exposure; Dec 13, 2024; pubmed:39669238. View A novel syndrome associated with prenatal fentanyl exposure on PubMed Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit; Dec 5, 2024; pubmed:39638574. View Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit on PubMed Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes; Dec 2, 2024; pubmed:39622807. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes on PubMed Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants; Nov 8, 2024; pubmed:39512073. View Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants on PubMed Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders; Oct 2, 2024; pubmed:39355980. View Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders on PubMed A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants; Aug 29, 2024; pubmed:39202393. View A Genotype/Phenotype Study of <em>KDM5B</em>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants on PubMed Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants; Jul 15, 2024; pubmed:39006444. View Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants on PubMed "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs; Jun 10, 2024; pubmed:38855852. View "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs on PubMed Genome Sequencing for Diagnosing Rare Diseases; Jun 5, 2024; pubmed:38838312. View Genome Sequencing for Diagnosing Rare Diseases on PubMed Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease; Apr 2, 2024; pubmed:38565148. View Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease on PubMed Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit; Mar 19, 2024; pubmed:38499751. View Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit on PubMed Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis; Feb 8, 2024; pubmed:38328047. View Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis on PubMed Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study; Feb 6, 2024; pubmed:38320840. View Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study on PubMed Sudden Unexplained Death in Childhood: Current Understanding; Nov 29, 2023; pubmed:38019719. View Sudden Unexplained Death in Childhood: Current Understanding on PubMed Sudden Unexplained Death in Childhood: Current Understanding; Nov 29, 2023; pubmed:38019718. View Sudden Unexplained Death in Childhood: Current Understanding on PubMed Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome; Nov 14, 2023; pubmed:37963460. View Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome on PubMed Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease; Oct 24, 2023; pubmed:37873196. View Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease on PubMed The Role of Genetic Testing for Short Stature Now and in the Future; Sep 11, 2023; pubmed:37695592. View The Role of Genetic Testing for Short Stature Now and in the Future on PubMed Beyond the exome: What's next in diagnostic testing for Mendelian conditions; Aug 4, 2023; pubmed:37541186. View Beyond the exome: What's next in diagnostic testing for Mendelian conditions on PubMed Advancing Understanding of Inequities in Rare Disease Genomics; Jul 30, 2023; pubmed:37517917. View Advancing Understanding of Inequities in Rare Disease Genomics on PubMed Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome; Jul 10, 2023; pubmed:37425688. View Biallelic loss of function variants in <em>WBP4</em>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome on PubMed Provision and availability of genomic medicine services in Level IV neonatal intensive care units; Jul 9, 2023; pubmed:37422715. View Provision and availability of genomic medicine services in Level IV neonatal intensive care units on PubMed Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by Deignan, et al; Jun 29, 2023; pubmed:37382598. View Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by Deignan, et al on PubMed Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome; Jun 21, 2023; pubmed:37340830. View Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome on PubMed The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths; Jun 19, 2023; pubmed:37332751. View The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths on PubMed Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure; May 25, 2023; pubmed:37230770. View Perinatal-lethal nonimmune fetal hydrops attributed to <em>MECOM</em>-associated bone marrow failure on PubMed Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families; May 15, 2023; pubmed:37183572. View Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families on PubMed Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy; Apr 10, 2023; pubmed:37034709. View Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy on PubMed Advancing Understanding of Inequities in Rare Disease Genomics; Apr 10, 2023; pubmed:37034593. View Advancing Understanding of Inequities in Rare Disease Genomics on PubMed Implications of Genomic Newborn Screening for Infant Mortality; Mar 28, 2023; pubmed:36975850. View Implications of Genomic Newborn Screening for Infant Mortality on PubMed Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age; Mar 13, 2023; pubmed:36910592. View Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age on PubMed AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature; Mar 2, 2023; pubmed:36860143. View AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature on PubMed Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites; Feb 17, 2023; pubmed:36800428. View Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites on PubMed Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans; Feb 16, 2023; pubmed:36795492. View Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans on PubMed Beyond the exome: what's next in diagnostic testing for Mendelian conditions; Jan 30, 2023; pubmed:36713248. View Beyond the exome: what's next in diagnostic testing for Mendelian conditions on PubMed Trisomy 13: Survival beyond the NICU; Dec 31, 2022; pubmed:36587011. View Trisomy 13: Survival beyond the NICU on PubMed Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021; Dec 15, 2022; pubmed:36521640. View Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021 on PubMed Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"; Nov 10, 2022; pubmed:36355221. View Re: "Next generation sequencing in neonatology: what does it mean for the next generation?" on PubMed ECI Biocommentary: Monica Hsiung Wojcik; Oct 19, 2022; pubmed:36261504. View ECI Biocommentary: Monica Hsiung Wojcik on PubMed Integrating rapid exome sequencing into NICU clinical care after a pilot research study; Sep 6, 2022; pubmed:36064943. View Integrating rapid exome sequencing into NICU clinical care after a pilot research study on PubMed Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes; Aug 13, 2022; pubmed:35963884. View Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes on PubMed Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome; Aug 2, 2022; pubmed:35916015. View Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome on PubMed Care Intensity and Palliative Care in Chronically Critically Ill Infants; Jul 15, 2022; pubmed:35840043. View Care Intensity and Palliative Care in Chronically Critically Ill Infants on PubMed Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care; Jul 3, 2022; pubmed:35780509. View Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care on PubMed A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene; Jun 29, 2022; pubmed:35768521. View A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene on PubMed A model to implement genomic medicine in the neonatal intensive care unit; Jun 24, 2022; pubmed:35750755. View A model to implement genomic medicine in the neonatal intensive care unit on PubMed Perspectives of United States neonatologists on genetic testing practices; Mar 19, 2022; pubmed:35304021. View Perspectives of United States neonatologists on genetic testing practices on PubMed Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review; Mar 7, 2022; pubmed:35254387. View Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review on PubMed Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants; Feb 7, 2022; pubmed:35129617. View Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants on PubMed Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency; Jan 30, 2022; pubmed:35094443. View Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency on PubMed Delayed diagnosis and racial bias in children with genetic conditions; Jan 17, 2022; pubmed:35037400. View Delayed diagnosis and racial bias in children with genetic conditions on PubMed Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome; Dec 31, 2021; pubmed:34970667. View Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome on PubMed Mortality in the neonatal intensive care unit: improving the accuracy of death reporting; Sep 29, 2021; pubmed:34584196. View Mortality in the neonatal intensive care unit: improving the accuracy of death reporting on PubMed Neuroimaging in Kabuki syndrome and another KMT2D-related disorder; Aug 9, 2021; pubmed:34369642. View Neuroimaging in Kabuki syndrome and another KMT2D-related disorder on PubMed The Unrecognized Mortality Burden of Genetic Disorders in Infancy; Jul 27, 2021; pubmed:34314210. View The Unrecognized Mortality Burden of Genetic Disorders in Infancy on PubMed Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs); Jun 11, 2021; pubmed:34112961. View Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs) on PubMed Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly; Jun 1, 2021; pubmed:34059898. View Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly on PubMed Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project; Mar 27, 2021; pubmed:33772220. View Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project on PubMed POLRMT mutations impair mitochondrial transcription causing neurological disease; Feb 19, 2021; pubmed:33602924. View POLRMT mutations impair mitochondrial transcription causing neurological disease on PubMed Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients; Dec 3, 2020; pubmed:33268356. View Histone H3.3 beyond cancer: Germline mutations in <em>Histone 3 Family 3A and 3B</em> cause a previously unidentified neurodegenerative disorder in 46 patients on PubMed Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects; Nov 24, 2020; pubmed:33232677. View Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects on PubMed Monogenic variants in dystonia: an exome-wide sequencing study; Oct 25, 2020; pubmed:33098801. View Monogenic variants in dystonia: an exome-wide sequencing study on PubMed Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis; Oct 10, 2020; pubmed:33037779. View Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis on PubMed The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?; Sep 15, 2020; pubmed:32932427. View The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? on PubMed Deciphering congenital anomalies for the next generation; Aug 23, 2020; pubmed:32826208. View Deciphering congenital anomalies for the next generation on PubMed Genomic Insights into Stillbirth; Aug 14, 2020; pubmed:32786182. View Genomic Insights into Stillbirth on PubMed Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease; Aug 11, 2020; pubmed:32775833. View Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease on PubMed Developmental Support for Infants With Genetic Disorders; Apr 25, 2020; pubmed:32327449. View Developmental Support for Infants With Genetic Disorders on PubMed Prenatal Diagnosis of a Ventral Abdominal Wall Defect; Apr 3, 2020; pubmed:32238493. View Prenatal Diagnosis of a Ventral Abdominal Wall Defect on PubMed Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content; Mar 24, 2020; pubmed:32202298. View Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content on PubMed Genetic diagnosis in the fetus; Feb 26, 2020; pubmed:32094481. View Genetic diagnosis in the fetus on PubMed Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency; Feb 6, 2020; pubmed:32022462. View Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency on PubMed Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield; Nov 30, 2019; pubmed:31780822. View Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield on PubMed A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability; Oct 19, 2019; pubmed:31627256. View A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability on PubMed Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging; Aug 27, 2019; pubmed:31447100. View Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging on PubMed Infant mortality: the contribution of genetic disorders; Aug 10, 2019; pubmed:31395954. View Infant mortality: the contribution of genetic disorders on PubMed De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder; Jul 16, 2019; pubmed:31303265. View De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder on PubMed Show More Publications Show Fewer Publications