David S. Rosenblatt - Publications, H-index & Citations

David S. Rosenblatt

mcgill university

63H指数

373论文数

1.5W被引数

收录论文 119

发表时间

Posterior Fossa Malformations in a Cohort of 116 Fetuses: A Retrospective Analysis of Imaging Characteristics, Postnatal Imaging Concordance, Pregnancy Outcomes and Yield of Genetic Testing 小脑后下池畸形在116例胎儿队列中的研究：影像特征、产后影像一致性、妊娠结局及遗传学检测产出的回顾性分析

Cerebellum

IF2.4

2026-05-01

PREAI

Malta, Maisa; Fortin, Olivier; Badner, Braeden; Charouf, Daniel; Addour-Boudrahem, Nassima; Beaudet-Leclair, Olivier; Rampakakis, Emmanouil; Rosenblatt, David S.; Nedelchev, Atanas Angelov; Shear, Roberta; Carpineta, Lucia; Srour, Myriam

A non-enzymatic role of Nudix hydrolase 5 in repressing purine de novo synthesis Nudix水解酶5在抑制嘌呤从头合成中的非酶促作用

Science

IF45.8

2025-11-06

PREAI

Tuan-Anh Nguyen; Jung-Ming G. Lin; Anne-Sophie M. C. Marques; Maximilian Fottner; Ludwig G. Bauer; Andreas Reicher; Diana Daum; Lorenzo Scrofani; Yusi Liu; Carol Cheng; Luna D’Angelo L.d.D.; Juan Sanchez; Christoph Bueschl; Nara Marella; Pisanu Buphamalai; Florian Traversi; Maša Bereš; Herwig P. Moll; Marton Siklos; Jakob-Wendelin Genger; Gerald Hofstaetter; Ludovica Villanti; Monika Malik; Christoph Klimek; Kathrin Runggatscher; Bettina Guertl; Jesper S. Hansen; Sarah Dobner; Olga Babosova; Tina Becirovic; Laura P. M. H. de Rooij; Emilio Casanova; Anna Koren; D. Sean Froese; David S. Rosenblatt; Kristaps Klavins; Andreas Bergthaler; Jörg Menche; J. Thomas Hannich; Miriam Abele; Sara Sdelci; Kathrin Lang; Kilian V. M. Huber; Stefan Kubicek

Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis 通过体细胞互补分析诊断的cblG型钴胺素代谢先天性错误患者的MTR基因变异鉴定

Molecular Genetics and Metabolism

IF3.5

2025-11-03

PREAI

David Watkins; Caitlin Zacharias; Kyana Arbabian-Urquilla; Krithika Ragupathi; Brian M. Gilfix; Daniel Jimenez; Natascia Anastasio; Jean-Baptiste Rivière; David S. Rosenblatt

Ineffectiveness of Sotatercept Therapy in a Patient With Heritable Pulmonary Arterial Hypertension Associated With a Previously Unreported Missense Variant in GDF2, the Gene for Bone Morphogenic Protein-9 携带此前未报道的GDF2基因（骨形态发生蛋白-9基因）错义变异的遗传性肺动脉高压患者中Sotatercept疗法无效

CHEST

IF8.6

2025-02-01

OAAI

Langleben, David; Lesenko, Lyda; Fox, Benjamin D.; Eintracht, Shaun; Foulkes, William D.; Rosenblatt, David S.

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis

HUMAN MOLECULAR GENETICS

IF3.2

2024-12-18

OAAI

Sentell, Zachary T.; Mougharbel, Lina; Nurcombe, Zachary W.; Babayeva, Sima; Henein, Marc; Chu, Lee Lee; Akpa, Murielle M.; Chung, Chen-Fang; Riviere, Jean-Baptiste; Pupavac, Mihaela; Li, Rui; Rosenblatt, David S.; Majewski, Jacek; Goodyer, Paul R.; Torban, Elena; Kitzler, Thomas M.

Differential utilization of vitamin B12-dependent and independent pathways for propionate metabolism across human cells 维生素B12-dependent的差异利用和人类细胞中丙酸代谢的独立途径

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2024-09-01

OAAI

Gouda, Harsha; Ji, Yuanyuan; Rath, Sneha; Watkins, David; Rosenblatt, David; Mootha, Vamsi; Jones, Jace W.; Banerjee, Ruma

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients MMACHC变体c.158T>C: cblC患者的轻度临床和生化表型以及明显的羟钴胺素反应

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-05-01

PREAI

Demaret, Tanguy; Bedard, Karine; Soucy, Jean-Francois; Watkins, David; Allard, Pierre; Levtova, Alina; O'Brien, Alan; Brunel-Guitton, Catherine; Rosenblatt, David S.; Mitchell, Grant A.

Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation 具有不同MMACHC表达和甲基化水平的人黑色素瘤衍生细胞系中蛋氨酸的生长需求

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-01-01

PREAI

Bauer, William G.; Watkins, David; Zacharias, Caitlin; Gilfix, Brian M.; Rosenblatt, David S.

Perspective on the future of genetic counseling assistants - Should it be a steppingstone or a stand-alone career?

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-01-01

PREAI

Melvill, Kenzie; Fitzpatrick, Jennifer; Rosenblatt, David S.

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

CLINICAL EPIGENETICS

IF4.4

2022-04-19

OAAI

Oussalah, Abderrahim; Siblini, Youssef; Hergalant, Sebastien; Chery, Celine; Rouyer, Pierre; Cavicchi, Catia; Guerrini, Renzo; Morange, Pierre-Emmanuel; Tregouet, David; Pupavac, Mihaela; Watkins, David; Pastinen, Tomi; Chung, Wendy K.; Ficicioglu, Can; Feillet, Francois; Froese, D. Sean; Baumgartner, Matthias R.; Benoist, Jean-Francois; Majewski, Jacek; Morrone, Amelia; Rosenblatt, David S.; Gueant, Jean-Louis

Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-04-01

PREAI

El Helou, Janine; Perry, Tracy B.; Anastasio, Natascia; Holbrook, Karen A.; Rosenblatt, David S.

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes

HUMAN GENETICS

IF3.6

2022-02-21

PREAI

Gueant, Jean-Louis; Siblini, Youssef; Chery, Celine; Schmitt, Guillaume; Gueant-Rodriguez, Rosa-Maria; Coelho, David; Watkins, David; Rosenblatt, David S.; Oussalah, Abderrahim

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

NATURE COMMUNICATIONS

IF15.7

2022-01-10

OAAI

Chern, Tiffany; Achilleos, Annita; Tong, Xuefei; Hill, Matthew C.; Saltzman, Alexander B.; Reineke, Lucas C.; Chaudhury, Arindam; Dasgupta, Swapan K.; Redhead, Yushi; Watkins, David; Neilson, Joel R.; Thiagarajan, Perumal; Green, Jeremy B. A.; Malovannaya, Anna; Martin, James F.; Rosenblatt, David S.; Poche, Ross A.

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (vol 22, pg 432, 2020)

GENETICS IN MEDICINE

IF6.2

2022-01-01

PREAI

Abdrabo, Lina Sobhi; Watkins, David; Wang, Sophie Ran; Lafond-Lapalme, Joel; Riviere, Jean-Baptiste; Rosenblatt, David S.

Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC 肿瘤细胞中的蛋氨酸依赖性: 钴胺素和MMACHC的潜在作用

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-03-01

PREAI

Sorin, Mark; Watkins, David; Gilfix, Brian M.; Rosenblatt, David S.

Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-09-01

PREAI

Bascunana, C.; El Helou, J.; Rauch, F. T.; Bardai, G.; Glorieux, F. H.; Riviere, J-B.; Byers, P.; Kaplan, P. B.; Rosenblatt, D. S.

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-07-01

OAAI

Bidla, Gawa; Watkins, David; Chery, Celine; Froese, D. Sean; Ells, Courtney; Kerachian, Matin; Saskin, Avi; Christensen, Karen E.; Gilfix, Brian M.; Gueant, Jean-Louis; Rosenblatt, David S.

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (vol 22, pg 432, 2020)

GENETICS IN MEDICINE

IF6.2

2020-07-01

OAAI

Abdrabo, Lina Sobhi; Watkins, David; Wang, Sophie Ran; Lafond-Lapalme, Joel; Riviere, Jean-Baptiste; Rosenblatt, David S.

Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing

HUMAN MOLECULAR GENETICS

IF3.2

2020-02-18

OAAI

Rashka, Charif; Hergalant, Sebastien; Dreumont, Natacha; Oussalah, Abderrahim; Camadro, Jean-Michel; Marchand, Virginie; Hassan, Ziad; Baumgartner, Matthias R.; Rosenblatt, David S.; Feillet, Francois; Gueant, Jean-Louis; Flayac, Justine; Coelho, David

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause

GENETICS IN MEDICINE

IF6.2

2020-02-01

OAAI

Abdrabo, Lina Sobhi; Watkins, David; Wang, Sophie Ran; Lafond-Lapalme, Joel; Riviere, Jean-Baptiste; Rosenblatt, David S.

研究方向