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ASO Author Reflections: Fong's Score in the Era of Modern Strategies for Metastatic Colorectal Cancer.

Turpin A, Hebbar M.

Ann Surg Oncol. 2019 Nov 12. doi: 10.1245/s10434-019-08059-3. [Epub ahead of print] No abstract available.


Fong's Score in the Era of Modern Perioperative Chemotherapy for Metastatic Colorectal Cancer: A Post Hoc Analysis of the GERCOR-MIROX Phase III Trial.

Makhloufi S, Turpin A, El Amrani M, André T, Truant S, Bachet JB, Vernerey D, Hebbar M.

Ann Surg Oncol. 2019 Oct 22. doi: 10.1245/s10434-019-07976-7. [Epub ahead of print]


Spatial heterogeneity of KRAS mutations in colorectal cancers in northern France.

Turpin A, Genin M, Hebbar M, Occelli F, Lanier C, Vasseur F, Descarpentries C, Pannier D, Ploquin A.

Cancer Manag Res. 2019 Sep 13;11:8337-8344. doi: 10.2147/CMAR.S211119. eCollection 2019.


Prognostic factors in patients with stage II colon cancer: Role of E-selectin gene polymorphisms.

Turpin A, Labreuche J, Fléjou JF, Andre T, de Gramont A, Hebbar M.

Dig Liver Dis. 2019 Aug;51(8):1198-1201. doi: 10.1016/j.dld.2019.05.019. Epub 2019 Jun 18. No abstract available.


Laparoscopic Partial ALPPS: Much Better Than ALPPS!

Truant S, El Amrani M, Baillet C, Ploquin A, Lecolle K, Ernst O, Hebbar M, Huglo D, Pruvot FR.

Ann Hepatol. 2019 Jan - Feb;18(1):269-273. doi: 10.5604/01.3001.0012.7937.


FOLFIRINOX or Gemcitabine as Adjuvant Therapy for Pancreatic Cancer.

Conroy T, Hammel P, Hebbar M, Ben Abdelghani M, Wei AC, Raoul JL, Choné L, Francois E, Artru P, Biagi JJ, Lecomte T, Assenat E, Faroux R, Ychou M, Volet J, Sauvanet A, Breysacher G, Di Fiore F, Cripps C, Kavan P, Texereau P, Bouhier-Leporrier K, Khemissa-Akouz F, Legoux JL, Juzyna B, Gourgou S, O'Callaghan CJ, Jouffroy-Zeller C, Rat P, Malka D, Castan F, Bachet JB; Canadian Cancer Trials Group and the Unicancer-GI–PRODIGE Group.

N Engl J Med. 2018 Dec 20;379(25):2395-2406. doi: 10.1056/NEJMoa1809775.


Continuation of Bevacizumab vs Cetuximab Plus Chemotherapy After First Progression in KRAS Wild-Type Metastatic Colorectal Cancer: The UNICANCER PRODIGE18 Randomized Clinical Trial.

Bennouna J, Hiret S, Bertaut A, Bouché O, Deplanque G, Borel C, François E, Conroy T, Ghiringhelli F, des Guetz G, Seitz JF, Artru P, Hebbar M, Stanbury T, Denis MG, Adenis A, Borg C.

JAMA Oncol. 2019 Jan 1;5(1):83-90. doi: 10.1001/jamaoncol.2018.4465.


Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM.

J Hum Genet. 2019 Jan;64(1):17-21. doi: 10.1038/s10038-018-0523-y. Epub 2018 Oct 18.


Impact of sarcopenia on outcomes of patients undergoing pancreatectomy: A retrospective analysis of 107 patients.

El Amrani M, Vermersch M, Fulbert M, Prodeau M, Lecolle K, Hebbar M, Ernst O, Pruvot FR, Truant S.

Medicine (Baltimore). 2018 Sep;97(39):e12076. doi: 10.1097/MD.0000000000012076.


Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.

Kanthi A, Hebbar M, Bielas SL, Girisha KM, Shukla A.

Eur J Med Genet. 2019 Jun;62(6):103528. doi: 10.1016/j.ejmg.2018.08.009. Epub 2018 Aug 22.


Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL.

Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5.


Meta-analysis of randomized controlled trials only exploring the role of single incision laparoscopic surgery versus conventional multiport laparoscopic surgery for colorectal resections.

Hebbar M, Riaz W, Sains P, Baig MK, Sajid MS.

Transl Gastroenterol Hepatol. 2018 May 29;3:30. doi: 10.21037/tgh.2018.05.05. eCollection 2018.


A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.

Hebbar M, Kanthi A, Shukla A, Bielas S, Girisha KM.

J Hum Genet. 2018 Jul;63(8):935-939. doi: 10.1038/s10038-018-0462-7. Epub 2018 Apr 25.


A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

Shukla A, Saneto RP, Hebbar M, Mirzaa G, Girisha KM.

Am J Med Genet A. 2018 May;176(5):1232-1237. doi: 10.1002/ajmg.a.38687.


Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.


Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

Galada C, Hebbar M, Lewis L, Soans S, Kadavigere R, Srivastava A, Bielas S, Girisha KM, Shukla A.

Congenit Anom (Kyoto). 2018 Sep;58(5):181-182. doi: 10.1111/cga.12275. Epub 2018 Feb 20. Review. No abstract available.


Current Targeted Therapies in HER2-Positive Gastric Adenocarcinoma.

Curea FG, Hebbar M, Ilie SM, Bacinschi XE, Trifanescu OG, Botnariuc I, Anghel RM.

Cancer Biother Radiopharm. 2017 Dec;32(10):351-363. doi: 10.1089/cbr.2017.2249. Review.


Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.

Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A.

J Hum Genet. 2018 Jan;63(1):19-25. doi: 10.1038/s10038-017-0363-1. Epub 2017 Nov 16.


p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Hebbar M, Kanthi A, Shrikiran A, Patil S, Muranjan M, Francis F, Bhat B V, Girisha KM, Shukla A.

Am J Med Genet A. 2018 Jan;176(1):156-160. doi: 10.1002/ajmg.a.38522. Epub 2017 Nov 17.


Clinical Relevance of Alternative Endpoints in Colorectal Cancer First-Line Therapy With Bevacizumab: A Retrospective Study.

Turpin A, Paget-Bailly S, Ploquin A, Hollebecque A, Peugniez C, El-Hajbi F, Bonnetain F, Hebbar M.

Clin Colorectal Cancer. 2018 Mar;17(1):e99-e107. doi: 10.1016/j.clcc.2017.10.001. Epub 2017 Oct 19.


Repeated Resections of Hepatic and Pulmonary Metastases from Colorectal Cancer Provide Long-Term Survival.

Bellier J, De Wolf J, Hebbar M, Amrani ME, Desauw C, Leteurtre E, Pruvot FR, Porte H, Truant S.

World J Surg. 2018 Apr;42(4):1171-1179. doi: 10.1007/s00268-017-4265-3.


Pharmacogenetic determinants of outcomes on triplet hepatic artery infusion and intravenous cetuximab for liver metastases from colorectal cancer (European trial OPTILIV, NCT00852228).

Lévi F, Karaboué A, Saffroy R, Desterke C, Boige V, Smith D, Hebbar M, Innominato P, Taieb J, Carvalho C, Guimbaud R, Focan C, Bouchahda M, Adam R, Ducreux M, Milano G, Lemoine A.

Br J Cancer. 2017 Sep 26;117(7):965-973. doi: 10.1038/bjc.2017.278. Epub 2017 Aug 17.


Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Nampoothiri S, Hebbar M, Roy AG, Kochumon SP, Bielas S, Shukla A, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):191-193. doi: 10.1055/s-0037-1599148. Epub 2017 Mar 7.


Unravelling the pharmacologic opportunities and future directions for targeted therapies in gastro-intestinal cancers part 2: Neuroendocrine tumours, hepatocellular carcinoma, and gastro-intestinal stromal tumours.

Neuzillet C, de Mestier L, Rousseau B, Mir O, Hebbar M, Kocher HM, Ruszniewski P, Tournigand C.

Pharmacol Ther. 2018 Jan;181:49-75. doi: 10.1016/j.pharmthera.2017.07.006. Epub 2017 Jul 16. Review.


Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A.

Eur J Med Genet. 2017 Oct;60(10):533-535. doi: 10.1016/j.ejmg.2017.07.010. Epub 2017 Jul 12.


Locally Advanced or Metastatic Pancreatic Adenocarcinoma: Easily Available Factors of Predictive Prolonged Survival Under Gemcitabine.

Ploquin A, Truant S, Piessen G, Vuagnat P, Baldini C, Cattan S, Hebbar M.

In Vivo. 2017 Jul-Aug;31(4):731-735.


Minimally invasive surgery for gastric cancer in UK: current status and future perspectives.

Sajid MS, Hebbar M, Sayegh ME.

Transl Gastroenterol Hepatol. 2017 May 9;2:44. doi: 10.21037/tgh.2017.04.06. eCollection 2017. Review.


A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Girisha KM.

J Hum Genet. 2017 Sep;62(9):867. doi: 10.1038/jhg.2017.65. Epub 2017 Jun 15. No abstract available.


Factors associated with fatal liver failure after extended hepatectomy.

Truant S, El Amrani M, Skrzypczyk C, Boleslawski E, Sergent G, Hebbar M, Dharancy S, Pruvot FR.

HPB (Oxford). 2017 Aug;19(8):682-687. doi: 10.1016/j.hpb.2017.04.006. Epub 2017 May 2.


Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM.

J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.


Comparison of Binary Predictive Scoring Systems of Posthepatectomy Liver Failure: A Response.

Skrzypczyk C, Truant S, Duhamel A, Langlois C, Boleslawski E, Hebbar M, Fourrier F, Mathurin P, Pruvot FR.

Ann Surg. 2017 Apr;265(4):e57-e58. doi: 10.1097/SLA.0000000000001327. No abstract available.


Safety and efficacy of FOLFIRINOX in elderly patients with metastatic or locally advanced pancreatic adenocarcinoma: A retrospective analysis.

Baldini C, Escande A, Bouché O, El Hajbi F, Volet J, Bourgeois V, Renaut Vantroys T, Ploquin A, Desauw C, Hebbar M.

Pancreatology. 2017 Jan - Feb;17(1):146-149. doi: 10.1016/j.pan.2016.12.009. Epub 2016 Dec 24.


Copy number variations in DCC/18q and ERBB2/17q are associated with disease-free survival in microsatellite stable colon cancer.

Sefrioui D, Vermeulin T, Blanchard F, Chapusot C, Beaussire L, Armengol-Debeir L, Sesboué R, Gangloff A, Hebbar M, Copin MC, Houivet E, Schwarz L, Clatot F, Tuech JJ, Bénichou J, Martin L, Bouvier AM, Sabourin JC, Sarafan-Vasseur N, Frébourg T, Lepage C, Michel P, Di Fiore F.

Int J Cancer. 2017 Apr 1;140(7):1653-1661. doi: 10.1002/ijc.30584.


Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy.

Hebbar M, Chandra T, Shukla A, Kadavigere R, Girisha KM.

Indian J Pediatr. 2017 Apr;84(4):330-331. doi: 10.1007/s12098-016-2279-8. Epub 2016 Dec 21. No abstract available.


Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.

Am J Hum Genet. 2016 Dec 1;99(6):1406-1408. doi: 10.1016/j.ajhg.2016.11.009. No abstract available.


Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.

Am J Hum Genet. 2016 Nov 3;99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. Epub 2016 Oct 27. Erratum in: Am J Hum Genet. 2016 Dec 1;99(6):1406-1408.


Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

Guo L, Girisha KM, Iida A, Hebbar M, Shukla A, Shah H, Nishimura G, Matsumoto N, Nismath S, Miyake N, Ikegawa S.

J Hum Genet. 2017 Mar;62(3):437-441. doi: 10.1038/jhg.2016.136. Epub 2016 Nov 10.


Bevacizumab Associated with Chemotherapy for Initially Non-resectable Liver Metastases from Colorectal Cancer: a Case-Control Study.

Alt M, Truant S, Renaud-Vantroys T, Séquier C, Duhamel A, El Amrany M, Turpin A, Makhloufi S, Pruvot FR, Hebbar M.

Anticancer Res. 2016 Oct;36(10):5551-5555.


Signet Ring Cells and Efficacy of First-line Chemotherapy in Advanced Gastric or Oesogastric Junction Adenocarcinoma.

Lemoine N, Adenis A, Bouche O, Duhamel A, Heurgue A, Leteurtre E, Amela E, Salleron J, Hebbar M.

Anticancer Res. 2016 Oct;36(10):5543-5549.


Deep Vein Thrombosis: An Independent Poor Prognosis Factor of Advanced Pancreatic Adenocarcinoma.

Lambert M, Ploquin A, Declerck L, Duhamel A, Makhloufi S, Turpin A, Truant S, Hebbar M.

Anticancer Res. 2016 Oct;36(10):5527-5530.


Early tumour response as a survival predictor in previously- treated patients receiving triplet hepatic artery infusion and intravenous cetuximab for unresectable liver metastases from wild-type KRAS colorectal cancer.

Bouchahda M, Boige V, Smith D, Karaboué A, Ducreux M, Hebbar M, Lepère C, Focan C, Guimbaud R, Innominato P, Awad S, Carvalho C, Tumolo S, Truant S, De Baere T, Castaing D, Rougier P, Morère JF, Taieb J, Adam R, Lévi F; ARTBC International.

Eur J Cancer. 2016 Nov;68:163-172. doi: 10.1016/j.ejca.2016.09.011. Epub 2016 Oct 18.


Hepatobiliary Scintigraphy in ALPPS: A Response.

Truant S, Baillet C, Deshorgue AC, Leteurtre E, Hebbar M, Ernst O, Huglo D, Pruvot FR.

Ann Surg. 2017 Dec;266(6):e112-e113. doi: 10.1097/SLA.0000000000001941. No abstract available.


Lack of Relationship Between Clinical Features and KRAS Mutations in Patients with Metastatic Colorectal Cancer.

Ploquin A, Zerimech F, Escande F, Adenis A, Giraud C, Gasnault L, Bourgeois V, Desauw C, Hebbar M.

Anticancer Res. 2016 Aug;36(8):4233-6.


Time to Definitive Health-Related Quality of Life Score Deterioration in Patients with Resectable Metastatic Colorectal Cancer Treated with FOLFOX4 versus Sequential Dose-Dense FOLFOX7 followed by FOLFIRI: The MIROX Randomized Phase III Trial.

Hamidou Z, Chibaudel B, Hebbar M, Hug de Larauze M, André T, Louvet C, Brusquant D, Garcia-Larnicol ML, de Gramont A, Bonnetain F.

PLoS One. 2016 Jun 16;11(6):e0157067. doi: 10.1371/journal.pone.0157067. eCollection 2016.


Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.

Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM.

Am J Med Genet A. 2016 Sep;170(9):2486-9. doi: 10.1002/ajmg.a.37794. Epub 2016 Jun 8. No abstract available.


Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Shukla A, Hebbar M, Harms FL, Kadavigere R, Girisha KM, Kutsche K.

Am J Med Genet A. 2016 Nov;170(11):2998-3003. doi: 10.1002/ajmg.a.37759. Epub 2016 May 18.


Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.

Hebbar M, Girisha KM, Shukla A.

BMJ Case Rep. 2016 May 13;2016. pii: bcr2016215162. doi: 10.1136/bcr-2016-215162.


Use of Prucalopride for Chronic Constipation: A Systematic Review and Meta-analysis of Published Randomized, Controlled Trials.

Sajid MS, Hebbar M, Baig MK, Li A, Philipose Z.

J Neurogastroenterol Motil. 2016 Jul 30;22(3):412-22. doi: 10.5056/jnm16004.


A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A.

Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15.


Drop of Total Liver Function in the Interstages of the New Associating Liver Partition and Portal Vein Ligation for Staged Hepatectomy Technique: Analysis of the "Auxiliary Liver" by HIDA Scintigraphy.

Truant S, Baillet C, Deshorgue AC, Leteurtre E, Hebbar M, Ernst O, Huglo D, Pruvot FR.

Ann Surg. 2016 Mar;263(3):e33-4. doi: 10.1097/SLA.0000000000001603. No abstract available.


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