J. Wambach

发表

Successful sulfonylurea treatment of an insulin‐naïve neonate with diabetes mellitus due to a KCNJ11 mutation

N. White, C. Nichols, J. Koster, 2009, Pediatric diabetes.

Essentials of Neonatal-Perinatal Medicine fellowship: part 2 - clinical education and experience

Allison H. Payne, T. Sawyer, M. Good, 2021, Journal of Perinatology.

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

A. Hamvas, D. Wegner, F. S. Cole, 2014, American journal of respiratory and critical care medicine.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Joshua C. Euteneuer, Denise L. Perry, I. Krantz, 2021, JAMA pediatrics.

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

Rebecca C. Spillmann, V. Shashi, R. Spillmann, 2020, American journal of medical genetics. Part A.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Gustavo, Ulrike, Schady, 2013 .

Neuroendocrine Cell Hyperplasia of Infancy: Clinical Score and Comorbidities.

R. Deterding, J. Hagood, L. Young, 2020, Annals of the American Thoracic Society.

Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth

A. Cahill, M. Tuuli, J. Wambach, 2017, American Journal of Perinatology.

Gastrointestinal polyps in children: advances in molecular genetics, diagnosis, and management.

J. Barnard, J. Wambach, J. Corredor, 2001, The Journal of pediatrics.

Congenital Acute Myeloid Leukemia with Unique Translocation t(11;19)(q23;p13.3)

S. Kulkarni, S. Bandt, J. Frater, 2015, Cureus.

Essentials of neonatal-perinatal medicine fellowship: innovations in medical education

Allison H. Payne, T. Sawyer, M. Good, 2021, Journal of Perinatology.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Functional Genomics of ABCA3 Variants

D. Wegner, F. S. Cole, C. Luke, 2020 .

Women’s Lifelong Exposure to Neighborhood Poverty and Low Birth Weight: A Population-Based Study

J. Wambach, J. Collins, R. David, 2008, Maternal and Child Health Journal.

Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease

A. Emili, A. Petcherski, S. Russo, 2020, bioRxiv.

A Rare Form of Insulin Resistance with Pseudoacromegaly

F. Urano, D. Wegner, F. S. Cole, 2016 .

MAJOR TECHNICAL ADVANCES Functional Genomics of ABCA3 Variants

D. Wegner, C. Luke, J. Wambach, 2020 .

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

R. Taft, M. Shinawi, S. Dahiya, 2021, American journal of medical genetics. Part A.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Essentials of Neonatal-Perinatal Medicine fellowship: an overview

Allison H. Payne, T. Sawyer, M. Good, 2021, Journal of Perinatology.

Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates

J. Wambach, C. McPherson, 2018, Neonatal Network.

Identifying the essential knowledge and skills for Neonatal-Perinatal Medicine: a systematic analysis of practice

S. Lorch, J. Wambach, H. Akinbi, 2022, Journal of Perinatology.

Gene Therapy Potential for Genetic Disorders of Surfactant Dysfunction

P. Sinn, P. McCray, J. Wambach, 2022, Frontiers in Genome Editing.

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism

Qunyuan Zhang, A. Hamvas, P. Eghtesady, 2017, The Journal of pediatrics.

Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015.

K. Mandl, C. Blaisdell, B. Trapnell, 2016, Annals of the American Thoracic Society.

Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency

A. Hamvas, P. Eghtesady, D. Wegner, 2022, Pediatric pulmonology.

First Steps toward Personalized Therapies for ABCA3 Deficiency

F. S. Cole, J. Wambach, L. Nogee, 2022, American journal of respiratory cell and molecular biology.

Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome

Qunyuan Zhang, T. Druley, R. Mitra, 2012, Pediatrics.

Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.

A. Hamvas, P. An, D. Wegner, 2010, Pediatric research.

Essentials of Neonatal–Perinatal Medicine Fellowship: careers in Neonatal–Perinatal Medicine

Allison H. Payne, T. Sawyer, M. Good, 2022, Journal of Perinatology.

ATS Core Curriculum 2016: Part III. Pediatric Pulmonary Medicine.

C. Thomson, D. Boyer, C. Oermann, 2016, Annals of the American Thoracic Society.

SMAD4 germline mutations in juvenile polyposis coli.

J. Barnard, J. Wambach, 1999, Journal of pediatric gastroenterology and nutrition.

Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.

E. Morrisey, S. Russo, J. Whitsett, 2017, Cell stem cell.

Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism inRFC1Resulting in CANVAS Syndrome

P. Dickson, D. Wegner, J. Wambach, 2022, Neurology Genetics.

Gene therapeutics for surfactant dysfunction disorders: Targeting the alveolar type 2 epithelial cell.

Sneha Sitaraman, K. Alysandratos, J. Wambach, 2022, Human gene therapy.

Skin Ulcerations in a Preterm Newborn

J. Wambach, S. Morley, 2009 .

Recombination as a mechanism for sporadic mutation in the surfactant protein‐C gene

C. Carlson, A. Hamvas, H. Henderson, 2008, Pediatric pulmonology.

Respiratory Distress, Flaccid Abdominal Musculature, and Cryptorchidism

J. Wambach, Morgan B. Wolfe, A. M. Beck, 2011 .

Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly

F. Urano, D. Ornitz, D. Wegner, 2020, Journal of the Endocrine Society.

Basic Genetics and Epigenetics of Childhood Lung Disease

A. Hamvas, J. Wambach, B. Chaudhari, 2019, Kendig's Disorders of the Respiratory Tract in Children.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2018, Human mutation.

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome

M. Willing, J. Wambach, Caroline K. Lee, 2015, American journal of medical genetics. Part A.

Childhood rare lung disease in the 21st century: “‐omics” technology advances accelerating discovery

T. Vece, J. Hagood, J. Wambach, 2020, Pediatric pulmonology.

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

T. Druley, R. Mitra, A. Hamvas, 2014, The Journal of pediatrics.

Syndrome Mutations Increase Risk for Neonatal Respiratory Distress

Qunyuan Zhang, R. Mitra, E. Todd, 2013 .

Synonymous ABCA 3 Variants Do Not Increase Risk for Neonatal Respiratory Distress Syndrome

T. Druley, R. Mitra, A. Hamvas, 2022 .

Surfactant Protein-C Promoter Variants Associated With Neonatal Respiratory Distress Syndrome Reduce Transcription

A. Hamvas, P. An, D. Wegner, 2010, Pediatric Research.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants.

Qunyuan Zhang, F. S. Cole, J. Wambach, 2016, The Journal of pediatrics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Blueberry Muffin Rash and Respiratory Distress in a Late Preterm Infant

J. Wambach, R. Hayashi, K. Farrell, 2012 .

Pathophysiology and management of respiratory distress syndrome

A. Hamvas, J. Wambach, 2014 .

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

P. Stankiewicz, P. Szafranski, A. Hamvas, 2017, The Journal of Pediatrics.

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

A. Hamvas, P. An, H. Henderson, 2008, Pediatric Research.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

P. Stankiewicz, P. Szafranski, P. Sen, 2014, American journal of medical genetics. Part A.

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B

D. Wegner, J. Wambach, F. White, 2022, Pediatric Nephrology.

ATP binding cassette member A3 (ABCA3): coming of age

J. Wambach, L. Nogee, A. Casey, 2023, Thorax.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

D. Nickerson, Martin Kircher, M. Bamshad, 2018, American journal of human genetics.

Essentials of neonatal-perinatal medicine fellowship: scholarship perspective

Allison H. Payne, T. Sawyer, M. Good, 2021, Journal of Perinatology.

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)

A. Pestronk, T. Strom, R. Schmidt, 2017, Human mutation.

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

G. Bernard, J. Wambach, L. Gauquelin, 2021, American journal of medical genetics. Part A.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort

Qunyuan Zhang, A. Hamvas, D. Wegner, 2016, World Journal of Pediatrics.

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

David R. Murdock, J. Rosenfeld, T. Schedl, 2022, Proceedings of the National Academy of Sciences.

An intronic ABCA3 mutation responsible for respiratory disease

A. Hamvas, A. Agrawal, D. Wegner, 2012, Pediatric Research.

CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans

G. Silverman, Hyori Kim, F. S. Cole, 2019, PloS one.

Part 6: Essentials of Neonatal–Perinatal Medicine fellowship: program administration

Allison H. Payne, T. Sawyer, M. Good, 2022, Journal of Perinatology.

Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.

A. Hamvas, P. An, D. Wegner, 2010, Pediatric research.

Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population

Qunyuan Zhang, A. Hamvas, D. Wegner, 2018, World Journal of Pediatrics.

The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.

A. Hamvas, M. Ochs, L. Knudsen, 2021, American Journal of Physiology - Lung cellular and Molecular Physiology.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

New clinical practice guidelines on the classification, evaluation and management of childhood interstitial lung disease in infants: what do they mean?

L. Young, J. Wambach, 2014, Expert review of respiratory medicine.

Postmenstrual age at discharge in premature infants with and without ventilatory pattern instability

J. Carroll, J. Wambach, J. Kemp, 2019, Journal of Perinatology.

Remission of Severe Neonatal Diabetes With Very Early Sulfonylurea Treatment

N. White, C. Nichols, M. Remedi, 2015, Diabetes Care.

Index of Suspicion in the NurseryCase 1: Neural Tube Defect in Infant of Epileptic MotherCase 2: Leg Swelling 5 Days After Birth in a Term Infant

J. Wambach, D. K. Grange, D. Moeckel, 2013 .

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.

A. Hamvas, R. Deterding, C. Conrad, 2023, Pediatric pulmonology.

A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia

J. Wambach, L. Nogee, 2019, American journal of respiratory and critical care medicine.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures

J. Shimony, D. Spencer, M. Shinawi, 2018, Pediatric Research.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.

A. Hamvas, D. Curiel, D. Wegner, 2016, American journal of respiratory cell and molecular biology.

Respiratory failure in a term infant with cis and trans mutations in ABCA3

A. Hamvas, D. Wegner, F. S. Cole, 2015, Journal of Perinatology.

Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants

G. Silverman, D. Wegner, C. Luke, 2020, Human mutation.

Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia.

D. Kotton, A. Ziady, A. Pradhan, 2022, American journal of respiratory and critical care medicine.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

K. Heimdal, E. Jabs, H. Omran, 2022, medRxiv.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations

D. Kotton, J. Wambach, C. Villacorta-Martin, 2024, The Journal of clinical investigation.

Functional Genomics of ATP-Binding Cassette Transporter A3 (ABCA3) Variants.

D. Wegner, F. S. Cole, C. Luke, 2020, American journal of respiratory cell and molecular biology.