Monica Wojcik

Measurement of the 85Kr specific activity in the GERDA liquid argon. Eur Phys J C Part Fields. 2025; 85(5):518. View Measurement of the 85Kr specific activity in the GERDA liquid argon. Abstract

Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype. Am J Med Genet A. 2025 Apr 09; e64087. View Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype. Abstract

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. NPJ Genom Med. 2025 Feb 27; 10(1):13. View International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. Abstract

Presentation and Longer-Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis. Am J Med Genet A. 2025 Jun; 197(6):e63979. View Presentation and Longer-Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis. Abstract

Rare disease narratives on social media: A content analysis. Genet Med Open. 2025; 3:102844. View Rare disease narratives on social media: A content analysis. Abstract

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. Res Sq. 2025 Jan 30. View Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. Abstract

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations. Front Genet. 2024; 15:1484651. View Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations. Abstract

Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data. Appl Health Econ Health Policy. 2025 May; 23(3):519-530. View Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data. Abstract

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Neurology. 2025 Jan 14; 104(1):e210106. View Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Abstract

Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. Prenat Diagn. 2024 Dec 05. View Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. Abstract

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Pediatrics. 2024 Dec 01; 154(6). View Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Abstract

Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics. Hastings Cent Rep. 2024 Dec; 54 Suppl 2:S49-S55. View Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics. Abstract

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders. Genet Med. 2025 Jan; 27(1):101284. View Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders. Abstract

Searches for new physics below twice the electron mass with GERDA. Eur Phys J C Part Fields. 2024; 84(9):940. View Searches for new physics below twice the electron mass with GERDA. Abstract

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes (Basel). 2024 Aug 06; 15(8). View A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Abstract

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. View De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Abstract

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. medRxiv. 2024 Jul 01. View Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Abstract

Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Genome Sequencing for Diagnosing Rare Diseases. Abstract

"It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Genet Med. 2024 Sep; 26(9):101177. View "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Abstract

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09. View De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. Abstract

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Abstract

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol. 2024 Aug; 44(8):1196-1202. View Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. Abstract

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open. 2024 02 06; 14(2):e080529. View Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. Abstract

Sudden Unexplained Death in Childhood: Current Understanding. Pediatr Emerg Care. 2023 Dec 01; 39(12):979-983. View Sudden Unexplained Death in Childhood: Current Understanding. Abstract

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. Am J Hum Genet. 2023 12 07; 110(12):2112-2119. View Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. Abstract

The Role of Genetic Testing for Short Stature Now and in the Future. JAMA Pediatr. 2023 11 01; 177(11):1127-1128. View The Role of Genetic Testing for Short Stature Now and in the Future. Abstract

Final Results of GERDA on the Two-Neutrino Double-ß Decay Half-Life of ^{76}Ge. Phys Rev Lett. 2023 Oct 06; 131(14):142501. View Final Results of GERDA on the Two-Neutrino Double-ß Decay Half-Life of ^{76}Ge. Abstract

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Abstract

A novel syndrome associated with prenatal fentanyl exposure. Genet Med Open. 2023; 1(1):100834. View A novel syndrome associated with prenatal fentanyl exposure. Abstract

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. Abstract

Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248. View Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Abstract

Advancing Understanding of Inequities in Rare Disease Genomics. Clin Ther. 2023 08; 45(8):745-753. View Advancing Understanding of Inequities in Rare Disease Genomics. Abstract

Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure. Cold Spring Harb Mol Case Stud. 2023 06; 9(3). View Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure. Abstract

Provision and availability of genomic medicine services in Level IV neonatal intensive care units. Genet Med. 2023 Oct; 25(10):100926. View Provision and availability of genomic medicine services in Level IV neonatal intensive care units. Abstract

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. Genet Med. 2023 Oct; 25(10):100904. 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. Abstract

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv. 2023 Jun 27. View Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. Abstract

Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome. Birth Defects Res. 2023 08 01; 115(13):1216-1221. View Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome. Abstract

The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. Front Med (Lausanne). 2023; 10:1166188. View The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. Abstract

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910. View Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Abstract

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans. J Clin Invest. 2023 04 03; 133(7). View Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans. Abstract

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv. 2023 Mar 30. View Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. Abstract

Advancing Understanding of Inequities in Rare Disease Genomics. medRxiv. 2023 Mar 29. View Advancing Understanding of Inequities in Rare Disease Genomics. Abstract

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature. Mol Genet Genomic Med. 2023 06; 11(6):e2157. View AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature. Abstract

Implications of Genomic Newborn Screening for Infant Mortality. Int J Neonatal Screen. 2023 Feb 28; 9(1). View Implications of Genomic Newborn Screening for Infant Mortality. Abstract

Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Sci Adv. 2023 02 17; 9(7):eade4814. View Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Abstract

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. Eur J Hum Genet. 2023 04; 31(4):461-468. View The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. Abstract

Beyond the exome: what's next in diagnostic testing for Mendelian conditions. ArXiv. 2023 Jan 18. View Beyond the exome: what's next in diagnostic testing for Mendelian conditions. Abstract

Trisomy 13: Survival beyond the NICU. Neoreviews. 2023 01 01; 24(1):51-56. View Trisomy 13: Survival beyond the NICU. Abstract

Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021. Genet Med. 2023 03; 25(3):100357. View Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021. Abstract

Re: "Next generation sequencing in neonatology: what does it mean for the next generation?" Hum Genet. 2023 Feb; 142(2):161-164. View Re: "Next generation sequencing in neonatology: what does it mean for the next generation?" Abstract

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. Adv Genet (Hoboken). 2023 Mar; 4(1):2200012. View Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. Abstract

ECI Biocommentary: Monica Hsiung Wojcik. Pediatr Res. 2023 Jan; 93(1):9. View ECI Biocommentary: Monica Hsiung Wojcik. Abstract

Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022 Sep 05; 7(1):51. View Integrating rapid exome sequencing into NICU clinical care after a pilot research study. Abstract

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res. 2023 01; 93(1):110-117. View Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Abstract

Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. J Genet Couns. 2022 12; 31(6):1434-1437. View Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. Abstract

Care Intensity and Palliative Care in Chronically Critically Ill Infants. J Pain Symptom Manage. 2022 11; 64(5):486-494. View Care Intensity and Palliative Care in Chronically Critically Ill Infants. Abstract

Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care. Clin Chem. 2022 07 03; 68(7):892. View Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care. Abstract

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. View A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Abstract

A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2023 02; 43(2):248-252. View A model to implement genomic medicine in the neonatal intensive care unit. Abstract

Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants. JAMA Pediatr. 2022 04 01; 176(4):420-421. View Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants. Abstract

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 04 01; 79(4):405-413. View Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. Abstract

Pulse shape analysis in Gerda Phase II. Eur Phys J C Part Fields. 2022; 82(4):284. View Pulse shape analysis in Gerda Phase II. Abstract

Perspectives of United States neonatologists on genetic testing practices. Genet Med. 2022 06; 24(6):1372-1377. View Perspectives of United States neonatologists on genetic testing practices. Abstract

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. View Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Abstract

Delayed diagnosis and racial bias in children with genetic conditions. Am J Med Genet A. 2022 04; 188(4):1118-1123. View Delayed diagnosis and racial bias in children with genetic conditions. Abstract

Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome. Neoreviews. 2022 01 01; 23(1):e60-e66. View Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome. Abstract

Mortality in the neonatal intensive care unit: improving the accuracy of death reporting. J Perinatol. 2022 05; 42(5):671-676. View Mortality in the neonatal intensive care unit: improving the accuracy of death reporting. Abstract

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 12; 185(12):3770-3783. View Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Abstract

Calibration of the Gerda experiment. Eur Phys J C Part Fields. 2021; 81(8):682. View Calibration of the Gerda experiment. Abstract

The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. View The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Abstract

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). J Perinatol. 2021 07; 41(7):1745-1754. 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). Abstract

Characterization of inverted coaxial 76 Ge detectors in GERDA for future double- ß decay experiments. Eur Phys J C Part Fields. 2021; 81(6):505. View Characterization of inverted coaxial 76 Ge detectors in GERDA for future double- ß decay experiments. Abstract

Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly. Clin Chem. 2021 06 01; 67(6):827-828. View Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly. Abstract

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genet Med. 2021 08; 23(8):1474-1483. View Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Abstract

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Abstract

POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. View POLRMT mutations impair mitochondrial transcription causing neurological disease. Abstract

Final Results of GERDA on the Search for Neutrinoless Double-ß Decay. Phys Rev Lett. 2020 Dec 18; 125(25):252502. View Final Results of GERDA on the Search for Neutrinoless Double-ß Decay. Abstract

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49). View Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Abstract

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. View Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Abstract

Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. View Monogenic variants in dystonia: an exome-wide sequencing study. Abstract

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207. View Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Abstract

Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020 10; 6(5). View Deciphering congenital anomalies for the next generation. Abstract

The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? Pediatr Res. 2021 01; 89(2):295-300. View The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? Abstract

Genomic Insights into Stillbirth. N Engl J Med. 2020 09 17; 383(12):1182-1183. View Genomic Insights into Stillbirth. Abstract

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Hum Mol Genet. 2020 06 03; 29(9):1426-1439. View Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Abstract

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020 Aug; 5(8):1316-1319. View Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Abstract

Developmental Support for Infants With Genetic Disorders. Pediatrics. 2020 05; 145(5). View Developmental Support for Infants With Genetic Disorders. Abstract

Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 04; 21(4):e286-e292. View Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Abstract

Genetic diagnosis in the fetus. J Perinatol. 2020 07; 40(7):997-1006. View Genetic diagnosis in the fetus. Abstract

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Mol Genet Genomic Med. 2020 04; 8(4):e1154. View Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Abstract

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. View Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Abstract

A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett. 2020 02; 594(4):717-727. View A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. Abstract

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 09 05; 105(3):493-508. View Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Abstract

Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619. View Infant mortality: the contribution of genetic disorders. Abstract

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet. 2019 08 01; 105(2):403-412. View De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Abstract

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 12; 21(12):2723-2733. View CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Abstract

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240. View Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. Abstract

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet. 2019 11; 27(11):1649-1658. View A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Abstract

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. Am J Med Genet A. 2019 08; 179(8):1565-1569. View Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. Abstract

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet. 2020 Feb; 63(2):103660. View PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Abstract

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019 07; 179(7):1299-1303. View A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Abstract

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Abstract

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet. 2019 05; 27(5):747-759. View Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Abstract

matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. View matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Abstract

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 12; 176(12):2623-2629. View De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Abstract

Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol. 2018 09; 38(9):1125-1134. View Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. Abstract

Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View Expanding the phenotypic spectrum associated with OPHN1 variants. Abstract

Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 11; 20(11):1396-1404. View Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Abstract

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 05 03; 102(5):744-759. View Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Abstract

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685. View High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Abstract

Cover Image, Volume 173A, Number 8, August 2017. Am J Med Genet A. 2017 Aug; 173(8):i. View Cover Image, Volume 173A, Number 8, August 2017. Abstract

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. Abstract

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. Am J Med Genet A. 2017 Aug; 173(8):2235-2239. View A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. Abstract

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. Abstract

Insulin resistance in adolescents with Turner syndrome is comparable to obese peers, but the overall metabolic risk is lower due to unknown mechanism. J Endocrinol Invest. 2015 Mar; 38(3):345-9. View Insulin resistance in adolescents with Turner syndrome is comparable to obese peers, but the overall metabolic risk is lower due to unknown mechanism. Abstract

A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose. NDT Plus. 2011 Dec; 4(6):394-6. View A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose. Abstract

Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa. Bone. 2010 Mar; 46(3):796-800. View Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa. Abstract

Direct measurement of the 7Be solar neutrino flux with 192 days of borexino data. Phys Rev Lett. 2008 Aug 29; 101(9):091302. View Direct measurement of the 7Be solar neutrino flux with 192 days of borexino data. Abstract