Cold Spring Harbor molecular case studies

Keyphrases

Publications

volume 9, number 4, 2024

Dingani Nkosi, Andrew W Allbee, Paul G Rothberg, Jonathan W Friedberg, Andrew G Evans
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera. Cold Spring Harbor molecular case studies 9 (4) (2024)
Dingani Nkosi, Andrew W Allbee, Paul G Rothberg, Jonathan W Friedberg, Andrew G Evans
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera. Cold Spring Harbor molecular case studies 9 (4) (2024)
Andrew W Allbee, James Gerson, Guang Yang, Adam Bagg
PD-L1 + diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Andrew W Allbee, James Gerson, Guang Yang, Adam Bagg
PD-L1 + diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (4) (2024)
Andrew W Allbee, James Gerson, Guang Yang, Adam Bagg
PD-L1 + diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation. Cold Spring Harbor molecular case studies 9 (4) (2024)
Andrew W Allbee, James Gerson, Guang Yang, Adam Bagg
PD-L1 + diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation. Cold Spring Harbor molecular case studies 9 (4) (2024)
Dingani Nkosi, Andrew W Allbee, Paul G Rothberg, Jonathan W Friedberg, Andrew G Evans
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera. Cold Spring Harbor molecular case studies 9 (4) (2024)
Dingani Nkosi, Andrew W Allbee, Paul G Rothberg, Jonathan W Friedberg, Andrew G Evans
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera. Cold Spring Harbor molecular case studies 9 (4) (2024)

2023

Katherine Reid, Olga Camacho-Vanegas, Deep Pandya, Sandra Catalina Camacho, Rui Fang Qiao, Tamara Kalir, Maria M Padron, Ann-Marie Beddoe, Peter Dottino, John A Martignetti
DEEP MOLECULAR TRACKING OVER THE 12-YEAR DEVELOPMENT OF ENDOMETRIAL CANCER FROM HYPERPLASIA IN A SINGLE PATIENT. Cold Spring Harbor molecular case studies (2023)
Pauline Tibout, Joel Livingston, Nisha Kanwar, Kyoko E Yuki, Adam Shlien, Bo Ngan, Meredith S Irwin, Daniel A Morgenstern, Johann K Hitzler, Anita Villani, Sarah Cohen-Gogo
SYNCHRONOUS T-LYMPHOBLASTIC LYMPHOMA AND NEUROBLASTOMA IN A 3-YEAR-OLD WITH NOVEL GERMLINE SMARCA4 AND EZH2 VARIANTS. Cold Spring Harbor molecular case studies (2023)
Ottavia Amato, Laurence Buisseret, Geraldine Gebhart, Nicolas Plouznikoff, Denis Larsimont, Ahmad Awada, Martine Piccart, Philippe Aftimos
PIK3CA copy number gain and inhibitors of the PI3K/AKT/mTOR pathway in triple-negative breast cancer. Cold Spring Harbor molecular case studies (2023)
Sharon Pei Yi Chan, Chen Ee Low, Chun En Yau, Tzu Ping Lin, Weining Wang, Sam Xin Xiu, Po Yin Tang, Baiwen Luo, Nur Fazlin Bte Mohamed Noor, Kristen Alexa Lee, Jianbang Chiang, Tan Boon Toh, Edward Kai-Hua Chow, Valerie Shiwen Yang
Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach. Cold Spring Harbor molecular case studies (2023)
Robert Kleyner, Nathaniel Ung, Arif Mohammad, Elaine Marchi, Karen Amble, Maureen Gavin, Ricardo Madrid, Gholson J Lyon
ITPR1-Associated Spinocerebellar Ataxia with Craniofacial Features - Additional Evidence for Germline Mosaicism. Cold Spring Harbor molecular case studies (2023)
Elisabeth Aline Goldman, Paul T Spellman, Anupriya Agarwal
Defining clonal hematopoiesis of indeterminate potential: evolutionary dynamics and detection under aging and inflammation. Cold Spring Harbor molecular case studies (2023)
Xiaolan Fang, Timothy Fee, Jessica Davis, Elliot S Stolerman, Raymond C Caylor
Clinical Case Report: Mosaic Genetic Variants in the ANK3 Gene are Associated with Neurodevelopmental Delays. Cold Spring Harbor molecular case studies (2023)
Wendy K Chung, Faranak F Herrera
Health Supervision for Children and Adolescents with 16p11.2 Deletion Syndrome. Cold Spring Harbor molecular case studies (2023)
Swetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, Jesse Hunter, Jessica Thomas, Elizabeth Varga, Elaine R Mardis, Richard J Wood, Daniel C Koboldt
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system. Cold Spring Harbor molecular case studies (2023)
Angela Krutish, James Elmore, Werner Ilse, Janine L Johnston, Dustin Hittel, Marina Kerr, Aneal Khan, Cheryl Rockman-Greenberg, Aizeddin A Mhanni
A novel WFS1 variant associated with isolated congenital cataracts. Cold Spring Harbor molecular case studies (2023)
Jagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, Leigh C Carmody, Amy Crandall, Daniel Danis, Michael A Gargano, Anxhela Gjyshi Gustafson, Ellen M Raney, Mallory Shingle, Jon Robert Davids, Peter Nick Robinson
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy. Cold Spring Harbor molecular case studies (2023)
Hyunji Kim, Hwa Young Kim, Jae Hyun Kim, Soo Hyun Seo, Kyoung Un Park
Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young. Cold Spring Harbor molecular case studies (2023)
Lea Abou Haidar, Robert Charles Harris, Panayotis Pachnis, Hongli Chen, Garrett K Gotway, Min Ni, Ralph J DeBerardinis
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment. Cold Spring Harbor molecular case studies (2023)
Majd Al Assaad, Gunes Gundem, Benjamin L Liechty, Andrea Sboner, Juan Medina, Elli Papaemmanuil, Cora N Sternberg, Asher Marks, Mark M Souweidane, Jeffrey P Greenfield, Ivy Tran, Matija Snuderl, Oliver Elemento, Marcin Imielinski, David J Pisapia, Juan Miguel Mosquera
The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer. Cold Spring Harbor molecular case studies (2023)

volume 9, number 1, 2023

Elise R Venable, Marie-France Gagnon, Beth A Pitel, Jeanne M Palmer, Jess F Peterson, Linda B Baughn, Nicole L Hoppman, Patricia T Greipp, Rhett P Ketterling, Mrinal S Patnaik, Katalin Kelemen, Xinjie Xu
A TRIP11:: FLT3 gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature. Cold Spring Harbor molecular case studies 9 (1) (2023)
Angela Krutish, James Elmore, Werner Ilse, Janine L Johnston, Dustin Hittel, Marina Kerr, Aneal Khan, Cheryl Rockman-Greenberg, Aizeddin A Mhanni, null null
A novel WFS1 variant associated with isolated congenital cataracts. Cold Spring Harbor molecular case studies 9 (1) (2023)
Kristen A Mikhail, Elizabeth VanSickle, Linda Z Rossetti
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1 -further expansion of the phenotypic spectrum. Cold Spring Harbor molecular case studies 9 (1) (2023)
Felipe Antonio de Oliveira Garcia, Adriane Feijó Evangelista, Bruna Minniti Mançano, Daniel Antunes Moreno, Gustavo Noriz Berardinelli, Flávia Escremim de Paula, Augusto Perazzolo Antoniazzi, Carlos Almeida Júnior, Ismael Lombardi, Iara Santana, Gustavo Ramos Teixeira, Caio Evangelista Costa, Rui Manuel Vieira Reis
Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing. Cold Spring Harbor molecular case studies 9 (1) (2023)

volume 9, number 2, 2023

Sylvain Mayeur, Benoit Lhermitte, Justine Gantzer, Anne Molitor, Tristan Stemmelen, Sébastien Meyer, Aline Kolmer, Jean-Emmanuel Kurtz, Seiamak Bahram, Raphaël Carapito
Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor. Cold Spring Harbor molecular case studies 9 (2) (2023)
Diogo Garcia, Isa Mambetsariev, Jeremy Fricke, Daniel Schmolze, Michelle Afkhami, Rifat Mannan, Pauline Kim, Shaira Therese Dingal, Bao Nguyen, Razmig Babikian, Yuman Fong, Ravi Salgia
Complete response to chemoimmunotherapy with bevacizumab in synchronous multiple primary cancers: pulmonary adenocarcinoma and sarcomatoid carcinoma. Cold Spring Harbor molecular case studies 9 (2) (2023)
David Y Chen, Leslie A Sutton, Sai Mukund Ramakrishnan, Eric J Duncavage, Sharon E Heath, Leigh A Compton, Christopher A Miller, Timothy J Ley
Melanoma in a patient with DNMT3A overgrowth syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
David Y Chen, Leslie A Sutton, Sai Mukund Ramakrishnan, Eric J Duncavage, Sharon E Heath, Leigh A Compton, Christopher A Miller, Timothy J Ley
Melanoma in a patient with DNMT3A overgrowth syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
Siba El Hussein, Andrew G Evans, John M Fitzsimmons, Nufatt Leong, Meghan Buldo, Jeremy P Segal, Audrey N Jajosky, Paul G Rothberg, Jane L Liesveld, Zoltán N Oltvai
Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia. Cold Spring Harbor molecular case studies 9 (2) (2023)
Siba El Hussein, Andrew G Evans, John M Fitzsimmons, Nufatt Leong, Meghan Buldo, Jeremy P Segal, Audrey N Jajosky, Paul G Rothberg, Jane L Liesveld, Zoltán N Oltvai
Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia. Cold Spring Harbor molecular case studies 9 (2) (2023)
Mahvish Qureshi Rahim, April Rahrig, Kathleen Overholt, Erin Conboy, Magdalena Czader, Amanda June Saraf
A familial SAMD9 variant present in pediatric myelodysplastic syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
Siba El Hussein, Andrew G Evans, John M Fitzsimmons, Nufatt Leong, Meghan Buldo, Jeremy P Segal, Audrey N Jajosky, Paul G Rothberg, Jane L Liesveld, Zoltán N Oltvai
Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia. Cold Spring Harbor molecular case studies 9 (2) (2023)
David Y Chen, Leslie A Sutton, Sai Mukund Ramakrishnan, Eric J Duncavage, Sharon E Heath, Leigh A Compton, Christopher A Miller, Timothy J Ley
Melanoma in a patient with DNMT3A overgrowth syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
Diogo Garcia, Isa Mambetsariev, Jeremy Fricke, Daniel Schmolze, Michelle Afkhami, Rifat Mannan, Pauline Kim, Shaira Therese Dingal, Bao Nguyen, Razmig Babikian, Yuman Fong, Ravi Salgia
Complete response to chemoimmunotherapy with bevacizumab in synchronous multiple primary cancers: pulmonary adenocarcinoma and sarcomatoid carcinoma. Cold Spring Harbor molecular case studies 9 (2) (2023)
Diogo Garcia, Isa Mambetsariev, Jeremy Fricke, Daniel Schmolze, Michelle Afkhami, Rifat Mannan, Pauline Kim, Shaira Therese Dingal, Bao Nguyen, Razmig Babikian, Yuman Fong, Ravi Salgia
Complete response to chemoimmunotherapy with bevacizumab in synchronous multiple primary cancers: pulmonary adenocarcinoma and sarcomatoid carcinoma. Cold Spring Harbor molecular case studies 9 (2) (2023)
David Y Chen, Leslie A Sutton, Sai Mukund Ramakrishnan, Eric J Duncavage, Sharon E Heath, Leigh A Compton, Christopher A Miller, Timothy J Ley
Melanoma in a patient with DNMT3A overgrowth syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
Sylvain Mayeur, Benoit Lhermitte, Justine Gantzer, Anne Molitor, Tristan Stemmelen, Sébastien Meyer, Aline Kolmer, Jean-Emmanuel Kurtz, Seiamak Bahram, Raphaël Carapito
Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor. Cold Spring Harbor molecular case studies 9 (2) (2023)
Mahvish Qureshi Rahim, April Rahrig, Kathleen Overholt, Erin Conboy, Magdalena Czader, Amanda June Saraf
A familial SAMD9 variant present in pediatric myelodysplastic syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
Mahvish Qureshi Rahim, April Rahrig, Kathleen Overholt, Erin Conboy, Magdalena Czader, Amanda June Saraf
A familial SAMD9 variant present in pediatric myelodysplastic syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
Mahvish Qureshi Rahim, April Rahrig, Kathleen Overholt, Erin Conboy, Magdalena Czader, Amanda June Saraf
A familial SAMD9 variant present in pediatric myelodysplastic syndrome. Cold Spring Harbor molecular case studies 9 (2) (2023)
Sylvain Mayeur, Benoit Lhermitte, Justine Gantzer, Anne Molitor, Tristan Stemmelen, Sébastien Meyer, Aline Kolmer, Jean-Emmanuel Kurtz, Seiamak Bahram, Raphaël Carapito
Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor. Cold Spring Harbor molecular case studies 9 (2) (2023)

volume 9, number 3, 2023

Leslie N Martinez-Gutierrez, Blake C Burgher, Manuel J Glynias, Daniel Alvarado, Elizabeth A Griffiths, Sean T Glenn, Pamela J Sung
Evaluation of hypereosinophilia in a case of FLT3 -mutant acute myeloid leukemia treated with gilteritinib. Cold Spring Harbor molecular case studies 9 (3) (2023)
Amy Wiegand, Rama Kastury, Arpita Neogi, Arya Mani, Allen Bale, Allison Cox
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Cold Spring Harbor molecular case studies 9 (3) (2023)