Saranya Balachandran - Publications, H-index & Citations

Saranya Balachandran

university medical center schleswig-holstein

9H指数

31论文数

1.2K被引数

收录论文 12

发表时间

Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI 长读测序揭示CPLANE1中隐藏的Alu介导的剪接缺陷，导致VI型口面指综合征

European Journal of Human Genetics

IF4.6

2026-09-12

OAAI

Jelena Pozojevic; Henrike Lisa Sczakiel; Saranya Balachandran; Nathalie Kruse; Martin Atta Mensah; Wiebke Hülsemann; Kristian Händler; Malte Spielmann

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia SOX3位点上的位置效应由染色体间插入引起遗传性痉挛性截瘫

American Journal of Human Genetics

IF8.1

2026-07-24

PREAI

Thorkild Terkelsen; Veronica Yumiceba; Joshua Kim; Uirá Souto Melo; Esben Axelgaard; Fabia Febbraro; Anders Vermelin Gunnarsson; Saranya Balachandran; Mikkel Dahl-Jessen; Rikke Christensen; Brock Andrew Peters; null Asan; Thomas Thelle; Mette Nyegaard; Rasmus O. Bak; Mark Denham; Malte Spielmann; Uffe Birk Jensen

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis 评估基因组测序策略：三联测序、单样本测序及标准检测在罕见病诊断中的应用

Genome Medicine

IF11.2

2025-09-19

OAAI

Daniel Kaschta; Christina Post; Franziska Gaass; Milad Al-Tawil; Vincent Arriens; Saranya Balachandran; Tobias Bäumer; Valerie Berge; Friederike Birgel; Andreas Dalski; Maike Dittmar; Andre Franke; Sören Franzenburg; Janina Fuß; Bettina Gehring; Rebecca Gembicki; Bianca Greiten; Kristin Grohte; Britta Hanker; Kristian Händler; Lana Harder; Yorck Hellenbroich; Theresia Herget; Gloria Herrmann; Olaf Hiort; Kirstin Hoff; Birga Hoffmann; Nadine Hornig; Irina Hüning; Monika Kautza-Lucht; Juliane Köhler; Anna-Sophie Liegmann; Jasmin Lisfeld; Britt-Sabina Löscher; Nils G. Margraf; Michelle Meyenborg; Anna Möllring; Hiltrud Muhle; Eva Maria Murga Penas; Henning Nommels; Dzhoy Papingi; Imke Poggenburg; Jelena Pozojevic; Philip Rosenstiel; Andreas Recke; Kimberly Roberts; Laelia Rösler; Franka Rust; Maj-Britt Salewski; Katharina Schau-Römer; Christian Schlein; Varun K.A. Sreenivasan; Louiza Toutouna; Caroline Utermann-Thüsing; Amelie T. van der Ven; Alexander E. Volk; Janne Wehnert; Sandra Wilson; Rixa Woitschach; Veronica Yumiceba; Christine Zühlke; Alexander Münchau; Norbert Brüggemann; Inga Vater; Almuth Caliebe; Inga Nagel; Malte Spielmann

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome 利用长读长测序对分裂手/足畸形综合征中的双等位基因WNT10B变异进行单体型相分型

CLINICAL GENETICS

IF2.3

2025-01-18

OAAI

Pozojevic, Jelena; Kakar, Naseebullah; Sczakiel, Henrike L.; Kruse, Nathalie; Haendler, Kristian; Balachandran, Saranya; Sreenivasan, Varun; Mensah, Martin A.; Spielmann, Malte

STIGMA: Single-cell tissue-specific gene prioritization using machine learning (vol 111, pg 338, 2024)柱头: 使用机器学习的单细胞组织特异性基因优先化 (111卷，338页，2024)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-03-01

OAAI

Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte

STIGMA: Single-cell tissue-specific gene prioritization using machine learning

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-02-01

OAAI

Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (vol 24, pg 2187, 2022)

GENETICS IN MEDICINE

IF6.2

2023-05-01

OAAI

Boschann, Felix; Cogulu, Ozgur; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M.; Hansmeier, Nils R.; Akdemir, Zeynep H. Coban; Prada-Medina, Cesar A.; Aykut, Ayca; Fischer-Zirnsak, Bjoern; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Haegerling, Rene; Posey, Jennifer E.; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R.; Kornak, Uwe; Schmidt, Julia

Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic development

DEVELOPMENT

IF3.6

2023-01-30

OAAI

Sreenivasan, Varun K. A.; Dore, Riccardo; Resch, Julia; Maier, Julia; Dietrich, Carola; Henck, Jana; Balachandran, Saranya; Mittag, Jens; Spielmann, Malte

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

GENETICS IN MEDICINE

IF6.2

2022-10-01

OAAI

Boschann, Felix; Cogulu, Muhsin O.; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M.; Hansmeier, Nils R.; Akdemir, Zeynep H. Coban; Prada-Medina, Cesar A.; Aykut, Ayca; Fischer-Zirnsak, Bjorn; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Haegerling, Rene; Posey, Jennifer E.; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R.; Kornak, Uwe; Schmidt, Julia

The role of single-cell genomics in human genetics

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-07-05

OAAI

Sreenivasan, Varun K. A.; Balachandran, Saranya; Spielmann, Malte

Non-Random Pattern of Integration for Epstein-Barr Virus with Preference for Gene-Poor Genomic Chromosomal Regions into the Genome of Burkitt Lymphoma Cell Lines

VIRUSES-BASEL

IF3.5

2022-01-04

OAAI

Janjetovic, Snjezana; Hinke, Juliane; Balachandran, Saranya; Akyuez, Nuray; Behrmann, Petra; Bokemeyer, Carsten; Dierlamm, Judith; Murga Penas, Eva Maria

Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state 人类中脑的单细胞测序揭示了神经胶质的激活和帕金森特异性神经元状态

BRAIN

IF11.7

2021-12-17

219

OAAI

Smajic, Semra; Prada-Medina, Cesar A.; Landoulsi, Zied; Ghelfi, Jenny; Delcambre, Sylvie; Dietrich, Carola; Jarazo, Javier; Henck, Jana; Balachandran, Saranya; Pachchek, Sinthuja; Morris, Christopher M.; Antony, Paul; Timmermann, Bernd; Sauer, Sascha; Pereira, Sandro L.; Schwamborn, Jens C.; May, Patrick; Gruenewald, Anne; Spielmann, Malte

研究方向