List of works - David A. Sweetser

A 15year-old girl with progressive epileptic encephalopathy, progressive myoclonus, and compound heterozygous FARS2 mutations

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 10 April 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

AML1-ETO mediates hematopoietic self-renewal and leukemogenesis through a COX/β-catenin signaling pathway

scientific article published on 03 May 2013

Abnormal Microenvironmental Signals Underlie Intestinal Aganglionosis inDominant megacolonMutant Mice

scientific article published on 01 March 1996

Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia

scientific article published on 17 April 2003

Adrenocorticotropin-Secreting Pancreatoblastoma

scientific article published on 01 May 2007

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

scientific article published on 13 August 2018

Case 34-2016

scientific article published on 01 November 2016

Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases

scientific article published on 28 September 2014

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

scientific article published on 07 July 2016

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia

scientific article

Diagnosis and Treatment of Childhood Acute Myeloid Leukemia

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

article

Discovering chemical modifiers of oncogene-regulated hematopoietic differentiation

scientific article

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

FLT3 internal tandem duplication in CD34+/CD33- precursors predicts poor outcome in acute myeloid leukemia

scientific article published on 29 June 2006

Ganglioneuromas and renal anomalies are induced by activated RETMEN2B in transgenic mice

scientific article published on 01 January 1999

Health Care Infrastructure for Financially Sustainable Clinical Genomics

scientific article published on 25 July 2016

Human liver fatty acid binding protein. Isolation of a full length cDNA and comparative sequence analyses of orthologous and paralogous proteins

scientific article

IQSEC2 and X-linked syndromal intellectual disability

scientific article published on 23 March 2016

IRF2BPL Is Associated with Neurological Phenotypes

Loss of TLE1 and TLE4 from the del(9q) commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival

scientific article

Loss of heterozygosity in childhood de novo acute myelogenous leukemia

scientific article published on 01 August 2001

Mapping of the NEP receptor tyrosine kinase gene to human chromosome 6p21.3 and mouse chromosome 17C

scientific article

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias

scientific article published on 25 February 2008

Newborn Screening for Glutaric Aciduria-II: The New England Experience

scientific article

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations

scientific article

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease

scientific article published on 19 April 2016

Oncogenesis and altered differentiation induced by activated Ras in neuroblasts of transgenic mice.

scientific article published in December 1997

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

scientific article

Pediatric Malignancies: Retinoblastoma and Wilms’ Tumor

Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center

scientific article published on 13 April 2014

Schinzel-Giedion syndrome and congenital megacalyces.

scientific article published in January 1993

TLE4 regulation of wnt-mediated inflammation underlies its role as a tumor suppressor in myeloid leukemia

scientific article published on 21 July 2016

The corepressor Tle4 is a novel regulator of murine hematopoiesis and bone development

scientific article

Tle corepressors are differentially partitioned to instruct CD8+ T cell lineage choice and identity.

scientific article published on 25 July 2018

Tle1 tumor suppressor negatively regulates inflammation in vivo and modulates NF-κB inflammatory pathway

scientific article published on February 2016

Training the Future Leaders in Personalized Medicine

scientific article published on 7 January 2016

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

scientific article published on 14 July 2017

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes

scientific article published on 27 October 2014

List of works by David A. Sweetser

A 15year-old girl with progressive epileptic encephalopathy, progressive myoclonus, and compound heterozygous FARS2 mutations

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

AML1-ETO mediates hematopoietic self-renewal and leukemogenesis through a COX/β-catenin signaling pathway

Abnormal Microenvironmental Signals Underlie Intestinal Aganglionosis inDominant megacolonMutant Mice

Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia

Adrenocorticotropin-Secreting Pancreatoblastoma

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Case 34-2016

Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia

Diagnosis and Treatment of Childhood Acute Myeloid Leukemia

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Discovering chemical modifiers of oncogene-regulated hematopoietic differentiation

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

FLT3 internal tandem duplication in CD34+/CD33- precursors predicts poor outcome in acute myeloid leukemia

Ganglioneuromas and renal anomalies are induced by activated RETMEN2B in transgenic mice

Health Care Infrastructure for Financially Sustainable Clinical Genomics

Human liver fatty acid binding protein. Isolation of a full length cDNA and comparative sequence analyses of orthologous and paralogous proteins

IQSEC2 and X-linked syndromal intellectual disability

IRF2BPL Is Associated with Neurological Phenotypes

Loss of TLE1 and TLE4 from the del(9q) commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival

Loss of heterozygosity in childhood de novo acute myelogenous leukemia

Mapping of the NEP receptor tyrosine kinase gene to human chromosome 6p21.3 and mouse chromosome 17C

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias

Newborn Screening for Glutaric Aciduria-II: The New England Experience

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease

Oncogenesis and altered differentiation induced by activated Ras in neuroblasts of transgenic mice.

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Pediatric Malignancies: Retinoblastoma and Wilms’ Tumor

Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center

Schinzel-Giedion syndrome and congenital megacalyces.

TLE4 regulation of wnt-mediated inflammation underlies its role as a tumor suppressor in myeloid leukemia

The corepressor Tle4 is a novel regulator of murine hematopoiesis and bone development

Tle corepressors are differentially partitioned to instruct CD8+ T cell lineage choice and identity.

Tle1 tumor suppressor negatively regulates inflammation in vivo and modulates NF-κB inflammatory pathway

Training the Future Leaders in Personalized Medicine

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes