Table of Contents

PRECISION MEDICINE IN PRACTICE

Select this article
The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer
- Majd Al Assaad,
- Gunes Gundem,
- Benjamin Liechty,
- Andrea Sboner,
- Juan Medina,
- Elli Papaemmanuil,
- Cora N. Sternberg,
- Asher Marks,
- Mark M. Souweidane,
- Jeffrey P. Greenfield,
- Ivy Tran,
- Matija Snuderl,
- Olivier Elemento,
- Marcin Imielinski,
- David J. Pisapia,
- and Juan Miguel Mosquera
Cold Spring Harb Mol Case Stud December 2023, 9: a006275; Published in Advance August 31, 2023
Select this article
Health supervision for children and adolescents with 16p11.2 deletion syndrome
- Wendy K. Chung,
- Faranak F. Herrera,
- and Simon's Searchlight Foundation
Cold Spring Harb Mol Case Stud December 2023, 9: a006316; Published in Advance December 1, 2023

RESEARCH ARTICLES

Select this article
Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL)
- Patricia M. Kim,
- Reza Nejati,
- Pin Lu,
- Devang Thakkar,
- Nicholas Mackrides,
- Vanessa Dupoux,
- Shazia Nakhoda,
- Don A. Baldwin,
- Jianming Pei,
- Sandeep S. Dave,
- Y. Lynn Wang,
- and Mariusz A. Wasik
Cold Spring Harb Mol Case Stud December 2023, 9: a006283; Published in Advance September 20, 2023
Select this article
ITPR1-associated spinocerebellar ataxia with craniofacial features—additional evidence for germline mosaicism
- Robert Kleyner,
- Nathaniel Ung,
- Mohammad Arif,
- Elaine Marchi,
- Karen Amble,
- Maureen Gavin,
- Ricardo Madrid,
- and Gholson Lyon
Cold Spring Harb Mol Case Stud December 2023, 9: a006303; Published in Advance October 11, 2023
Select this article
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera
- Dingani Nkosi,
- Andrew W. Allbee,
- Paul G. Rothberg,
- Jonathan W. Friedberg,
- and Andrew G. Evans
Cold Spring Harb Mol Case Stud December 2023, 9: a006313
Select this article
Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant
- Emilia Modolo Pinto,
- Enilze M.S.F. Ribeiro,
- Jinling Wang,
- Aaron H. Phillips,
- Richard W. Kriwacki,
- and Gerard P. Zambetti
Cold Spring Harb Mol Case Stud December 2023, 9: a006290; Published in Advance November 29, 2023
Select this article
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy
- Jagadish Chandrabose Sundaramurthi,
- Anita M. Bagley,
- Hannah Blau,
- Leigh Carmody,
- Amy Crandall,
- Daniel Danis,
- Michael A. Gargano,
- Anxhela Gjyshi Gustafson,
- Ellen M. Raney,
- Mallory Shingle,
- Jon R. Davids,
- and Peter N. Robinson
Cold Spring Harb Mol Case Stud December 2023, 9: a006293; Published in Advance September 8, 2023

RESEARCH REPORTS

Select this article
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment
- Lea Abou Haidar,
- Robert C. Harris,
- Panayotis Pachnis,
- Hongli Chen,
- Garrett K. Gotway,
- Min Ni,
- and Ralph J. DeBerardinis
Cold Spring Harb Mol Case Stud December 2023, 9: a006295; Published in Advance September 14, 2023
Select this article
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature
- Daniah Albokhari,
- Ohood Alharbi,
- Alyssa Blesson,
- and Mahim Jain
Cold Spring Harb Mol Case Stud December 2023, 9: a006319
Select this article
PD-L1⁺ diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation
- Andrew W. Allbee,
- James Gerson,
- Guang Yang,
- and Adam Bagg
Cold Spring Harb Mol Case Stud December 2023, 9: a006318
Select this article
Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach
- 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,
- and Valerie Shiwen Yang
Cold Spring Harb Mol Case Stud December 2023, 9: a006308; Published in Advance November 9, 2023
Select this article
Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data Commons
- Kyle M. Hernandez,
- Aarti Venkat,
- Danne C. Elbers,
- John R. Bihn,
- Mary T. Brophy,
- Nhan V. Do,
- Jennifer La,
- Qiong Liu,
- Andrew Prokhorenkov,
- Noah Metoki-Shlubsky,
- Feng-Chi Sung,
- Channing J. Paller,
- Nathanael R. Fillmore,
- and Robert L. Grossman
Cold Spring Harb Mol Case Stud December 2023, 9: a006298; Published in Advance November 22, 2023
Select this article
Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient
- Katherine Reid,
- Olga Camacho-Vanegas,
- Deep Pandya,
- Sandra Catalina Camacho,
- Rui Fang Qiao,
- Tamara Kalir,
- Maria M. Padron-Rhenals,
- Ann-Marie Beddoe,
- Peter Dottino,
- and John A. Martignetti
Cold Spring Harb Mol Case Stud December 2023, 9: a006311; Published in Advance October 17, 2023
Select this article
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure
- Dana R. Tower,
- Ronald W. Day,
- Tighe Marrone,
- Rachel Palmquist,
- Lincoln D. Nadauld,
- Joshua L. Bonkowsky,
- and Sabrina Malone Jenkins
Cold Spring Harb Mol Case Stud December 2023, 9: a006292; Published in Advance August 16, 2023

RAPID COMMUNICATION

Select this article
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system
- Swetha Ramadesikan,
- Caitlyn M. Colwell,
- Rachel Supinger,
- Jesse Hunter,
- Jessica Thomas,
- Elizabeth Varga,
- Elaine R. Mardis,
- Richard J. Wood,
- and Daniel C. Koboldt
Cold Spring Harb Mol Case Stud December 2023, 9: a006294; Published in Advance October 10, 2023

RAPID CANCER COMMUNICATION

Select this article
Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants
- Pauline Tibout,
- Joel Livingston,
- Nisha Kanwar,
- Kyoko E. Yuki,
- Adam Shlien,
- Bo Ngan,
- Meredith S. Irwin,
- Daniel A. Morgenstern,
- Johann Hitzler,
- Anita Villani,
- and Sarah Cohen-Gogo
Cold Spring Harb Mol Case Stud December 2023, 9: a006286; Published in Advance November 6, 2023

VARIANT DISCREPANCY RESOLUTIONS

Select this article
Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy
- Juan J. Alban,
- Alejandra Arango-Ramirez,
- Jorge A. Olave-Rodriguez,
- Jose A. Nastasi-Catanese,
- and Lisa X. Rodriguez
Cold Spring Harb Mol Case Stud December 2023, 9: a006291; Published in Advance August 17, 2023
Select this article
Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young
- Hyunji Kim,
- Hwa Young Kim,
- Jae Hyun Kim,
- Soo Hyun Seo,
- and Kyung Un Park
Cold Spring Harb Mol Case Stud December 2023, 9: a006305; Published in Advance August 31, 2023

PRECISION MEDICINE IN PRACTICE

The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer

Health supervision for children and adolescents with 16p11.2 deletion syndrome

RESEARCH ARTICLES

Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL)

ITPR1-associated spinocerebellar ataxia with craniofacial features—additional evidence for germline mosaicism

Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera

Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy

RESEARCH REPORTS

Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature

PD-L1⁺ diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation

Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach

Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data Commons

Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure

RAPID COMMUNICATION

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system

RAPID CANCER COMMUNICATION

Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants

VARIANT DISCREPANCY RESOLUTIONS

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy

Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young

This Issue

In the News

Current Issue

Featured Articles

Pfad - The Proxy pFad of © 2024 Garber Painting. All rights reserved.

Table of Contents

PRECISION MEDICINE IN PRACTICE

The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer

Health supervision for children and adolescents with 16p11.2 deletion syndrome

RESEARCH ARTICLES

Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL)

ITPR1-associated spinocerebellar ataxia with craniofacial features—additional evidence for germline mosaicism

Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera

Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant

De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy

RESEARCH REPORTS

Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature

PD-L1+ diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation

Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach

Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data Commons

Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure

RAPID COMMUNICATION

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system

RAPID CANCER COMMUNICATION

Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants

VARIANT DISCREPANCY RESOLUTIONS

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy

Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young

This Issue

In the News

Current Issue

Featured Articles

Pfad - The Proxy pFad of © 2024 Garber Painting. All rights reserved.

PD-L1⁺ diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired PMS2 mutation