Chandran Ka - Publications, H-index & Citations

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Chandran Ka

ggb

15H-index

64Paper Count

781Citation Count

Published Papers 20

Publication Date

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics

IF29

2025-10-22

OAAI

Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein

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Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1

faseb journal

IF0

2025-07-10

OAAI

Marlène Le Tertre; Ahmad Elbahnsi; Cécile Ged; Kevin Uguen; Isabelle Gourlaouen; Claude Férec; Chandran Ka; Gérald Le Gac; Isabelle Callebaut

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The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-10-01

OAAI

Uguen, Kevin; Le Tertre, Marlne; Tchernitchko, Dimitri; Elbahnsi, Ahmad; Maestri, Sandrine; Gourlaouen, Isabelle; Ferec, Claude; Ka, Chandran; Callebaut, Isabelle; Le Gac, Gerald

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Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease

FASEB JOURNAL

IF4.2

2024-07-03

OAAI

Debbiche, Rim; Elbahnsi, Ahmad; Uguen, Kevin; Ka, Chandran; Callebaut, Isabelle; Le Gac, Gerald

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The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells

CELLS

IF5.2

2024-01-18

OAAI

Santinelli, Raphael; Benz, Nathalie; Guellec, Julie; Quinquis, Fabien; Kocas, Ervin; Thomas, Johan; Montier, Tristan; Ka, Chandran; Luczka-Majerus, Emilie; Sage, Edouard; Ferec, Claude; Coraux, Christelle; Trouve, Pascal

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The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

HUMAN MUTATION

IF3.7

2023-06-13

OAAI

Uguen, Kevin; Ka, Chandran; Collod-Beroud, Gwenaelle; Le Tertre, Marlene; Guellec, Julie; Ferec, Claude; Beroud, Christophe; Callebaut, Isabelle; Le Gac, Gerald

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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

HUMAN MUTATION

IF3.7

2022-11-20

PREAI

Leman, Raphael; Parfait, Beatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gerald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Celine; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Helene; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M.; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Francoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T.; Spurdle, Amanda B.; Frebourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie

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A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2020-08-15

OAAI

Rodriguez-Palmero, Agusti; Schluter, Agatha; Verdura, Edgard; Ruiz, Montserrat; Jose Martinez, Juan; Gourlaouen, Isabelle; Ka, Chandran; Lobato, Ricardo; Casasnovas, Carlos; Le Gac, Gerald; Fourcade, Stephane; Pujol, Aurora

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Biallelic variants inMAATS1encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-03-11

OAAI

Martinez, Guillaume; Beurois, Julie; Dacheux, Denis; Cazin, Caroline; Bidart, Marie; Kherraf, Zine-Eddine; Robinson, Derrick R.; Satre, Veronique; Le Gac, Gerald; Ka, Chandran; Gourlaouen, Isabelle; Fichou, Yann; Petre, Graciane; Dulioust, Emmanuel; Zouari, Raoudha; Thierry-Mieg, Nicolas; Toure, Aminata; Arnoult, Christophe; Bonhivers, Melanie; Ray, Pierre; Coutton, Charles

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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

BMC GENOMICS

IF3.7

2020-01-28

OAAI

Leman, Raphael; Tubeuf, Helene; Raad, Sabine; Tournier, Isabelle; Derambure, Celine; Lanos, Raphael; Gaildrat, Pascaline; Castelain, Gaia; Hauchard, Julie; Killian, Audrey; Baert-Desurmont, Stephanie; Legros, Angelina; Goardon, Nicolas; Quesnelle, Celine; Ricou, Agathe; Castera, Laurent; Vaur, Dominique; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Boutry-Kryza, Nadia; Schultz, Ines; Caux-Moncoutier, Virginie; Rossing, Maria; Walker, Logan C.; Spurdle, Amanda B.; Houdayer, Claude; Martins, Alexandra; Krieger, Sophie

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Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A

FASEB JOURNAL

IF4.2

2019-11-05

OAAI

Guellec, Julie; Elbahnsi, Ahmad; Le Tertre, Marlene; Uguen, Kevin; Gourlaouen, Isabelle; Ferec, Claude; Ka, Chandran; Callebaut, Isabelle; Le Gac, Gerald

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First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild-type transcripts

HUMAN MUTATION

IF3.7

2019-06-24

OAAI

Lin, Jin-Huan; Tang, Xin-Ying; Boulling, Arnaud; Zou, Wen-Bin; Masson, Emmanuelle; Fichou, Yann; Raud, Loann; Le Tertre, Marlene; Deng, Shun-Jiang; Berlivet, Isabelle; Ka, Chandran; Mort, Matthew; Hayden, Matthew; Leman, Raphael; Houdayer, Claude; Le Gac, Gerald; Cooper, David N.; Li, Zhao-Shen; Ferec, Claude; Liao, Zhuan; Chen, Jian-Min

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)

NUCLEIC ACIDS RESEARCH

IF13.1

2018-10-13

OAAI

Leman, Raphael; Gaildrat, Pascaline; Gac, Gerald L.; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude

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The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

HAEMATOLOGICA

IF7.9

2018-07-12

OAAI

Ka, Chandran; Guellec, Julie; Pepermans, Xavier; Kannengiesser, Caroline; Ged, Cecile; Wuyts, Wim; Cassiman, David; de Ledinghen, Victor; Varet, Bruno; de Kerguenec, Caroline; Oudin, Claire; Gourlaouen, Isabelle; Lefebvre, Thibaud; Ferec, Claude; Callebaut, Isabelle; Le Gac, Gerald

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

NUCLEIC ACIDS RESEARCH

IF13.1

2018-05-10

OAAI

Leman, Raphael; Gaildrat, Pascaline; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude

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Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2017-10-23

OAAI

Uguen, Kevin; Scotet, Virginie; Ka, Chandran; Gourlaouen, Isabelle; L'hostis, Carine; Merour, Marie-Christine; Cuppens, Tania; Ferec, Claude; Le Gac, Gerald

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The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin

GASTROENTEROLOGY

IF25.1

2016-10-01

OAAI

Le Gac, Gerald; Gourlaouen, Isabelle; Ka, Chandran; Ferec, Claude

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Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements

NUCLEIC ACIDS RESEARCH

IF13.1

2015-11-28