B. Martin

发表

Mistaken identity: Legionella micdadei appearing as acid‐fast bacilli on lung biopsy of a hematopoietic stem cell transplant patient

D. Ho, P. Waldron, B. Martin, 2015, Transplant infectious disease : an official journal of the Transplantation Society.

Novel IRF8 and PD-L1 molecular aberrations in systemic EBV-positive T-cell lymphoma of childhood

Y. Natkunam, J. Schroers-Martin, C. Kunder, 2020 .

Plasma exchange for severe immune-related adverse events from checkpoint inhibitors: an early window of opportunity?

Kalin L. Wilson, K. Ramchandran, S. Anand, 2022, Immunotherapy advances.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib

Ryanne A. Brown, Ruwan A. Silva, D. Gratzinger, 2018, American journal of ophthalmology case reports.

Daratumumab, Lenalidomide, and Dexamethasone (DRD), an Active Regimen in the Treatment of Immunosuppression-Associated Plasmablastic Lymphoma (PBL) in the Setting of Gorham's Lymphangiomatosis: Review of the Literature

H. Abdulhaq, B. Martin, Matthew R. Lee, 2022, Case reports in hematology.

Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency

C. Kunder, D. Lewis, G. Uzel, 2020, Journal of Clinical Immunology.

Rare and fatal complication of immune checkpoint inhibition: a case report of haemophagocytic lymphohistiocytosis with severe lichenoid dermatitis

Lisa C. Zaba, K. Ganjoo, B. Martin, 2021, British journal of haematology.

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.

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.

Bone marrow histomorphological criteria can accurately diagnose hemophagocytic lymphohistiocytosis

E. Gars, Karen M. Chisholm, R. Ohgami, 2018, Haematologica.

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.

High‐dose cyclophosphamide in refractory myasthenia gravis with MuSK antibodies

A. Weinacker, B. Martin, Yuen T. So, 2006, Muscle & nerve.

Successful treatment of thrombocytopenia with daratumumab after allogeneic transplant: a case report and literature review.

S. Arai, F. Socola, Y. Migdady, 2020, Blood advances.

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.

A Case Report of Refractory Immune Thrombocytopenia (ITP) Following Reduced Intensity Conditioning (RIC) Hematopoietic Cell Transplantation (HCT) for Myelodysplastic Syndrome (MDS) Successfully Treated with Off-Label Use of Daratumumab

S. Arai, F. Socola, Y. Migdady, 2018, Blood.

Additional analyses exploring the hypothesized transdifferentiation of plasmablasts to developing neutrophils in severe COVID-19

Aaron J. Wilk, C. Blish, A. Rustagi, 2020, bioRxiv.

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.

Thalidomide for treatment of gastrointestinal angiodysplasia in patients with left ventricular assist devices: case series and treatment protocol.

D. Banerjee, Karen V Draper, P. Kale, 2015, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

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.

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.

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.

Disseminated non-Langerhans cell histiocytosis with an IRF2BP2-NTRK1 gene fusion identified by next-generation sequencing

Ryanne A. Brown, Warren H. Chan, R. Novoa, 2020, JAAD case reports.

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.