Katta Mohan Girisha

Affiliations
  • Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Publications (88)

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.

Clinical dysmorphology
Avec: Priyanka Upadhyai , Eram Fatima Amiri , Vishal Singh Guleria , Stephanie L Bielas , Anju Shukla

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

Annals of human genetics
Avec: Parneet Kaur , Suvasini Sharma , Rajagopal Kadavigere , Anju Shukla

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

European journal of medical genetics
Avec: Parneet Kaur , Mirjam M C Wamelink , Marjo S van der Knaap , Anju Shukla

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Human mutation
Avec: Katta M Girisha , Leonie von Elsner , Kausthubham Neethukrishna , Mamta Muranjan , Anju Shukla , Gandham SriLakshmi Bhavani , Gen Nishimura , Kerstin Kutsche , Geert Mortier

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.

European journal of human genetics : EJHG
Avec: Tess Holling , Sheela Nampoothiri , Bedirhan Tarhan , Pauline E Schneeberger , Kollencheri Puthenveettil Vinayan , Dhanya Yesodharan , Arun Grace Roy , Periyasamy Radhakrishnan , Malik Alawi , Lindsay Rhodes , Peter B Kang , Kerstin Kutsche

Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.

Journal of pediatric genetics
Avec: Shruthi Sudarshan , Atin Kumar , Arun Gupta , Neetu Bhari , Gomathy Sethuraman , Tanuja Kaushal , Ankita Pradhan , Savita Sapra , Neerja Gupta , Punit Kaur , Sheffali Gulati , Biswaroop Chakrawarty , Sumita Danda , Meenakshi Bhatt , Seema Kapoor , Katta M Girisha , Naveen Sankhyan , Madhulika Kabra , Madhumita Roy Chowdhury

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.

Clinical dysmorphology
Avec: Shivani Mishra , Anju Shukla

Mongolian spots in GM1 gangliosidosis: a pictorial report.

Clinical dysmorphology
Avec: Shivani Mishra , Pranita Pai , Anusha Uttarilli ,

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Human mutation
Avec: Dipti Deshpande , Shailesh Kumar Gupta , Asodu Sandeep Sarma , Prajnya Ranganath , Jamal Md Nurul Jain S , Jayesh Sheth , Mehul Mistri , Neerja Gupta , Madhulika Kabra , Shubha R Phadke , Katta M Girisha , Ratna Dua Puri , Shagun Aggarwal , Chaitanya Datar , Kausik Mandal , Preetha Tilak , Mamta Muranjan , Sunita Bijarnia-Mahay , Radha Rama Devi A , Naresh B Tayade , Akash Ranjan , Ashwin B Dalal

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

Brain : a journal of neurology
Avec: Chiara Klöckner , J Pedro Fernández-Murray , Mahtab Tavasoli , Heinrich Sticht , Gisela Stoltenburg-Didinger , Leila Motlagh Scholle , Somayeh Bakhtiari , Michael C Kruer , Hossein Darvish , Saghar Ghasemi Firouzabadi , Alex Pagnozzi , Anju Shukla , Dhanya Lakshmi Narayanan , Parneet Kaur , Reza Maroofian , Maha S Zaki , Mahmoud M Noureldeen , Andreas Merkenschlager , Janina Gburek-Augustat , Elisa Cali , Selina Banu , Kamrun Nahar , Stephanie Efthymiou , Henry Houlden , Rami Abou Jamra , Jason Williams , Christopher R McMaster , Konrad Platzer

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Brain : a journal of neurology
Avec: Michelle C do Rosario , Guillermo Rodriguez Bey , Bruce Nmezi , Fang Liu , Talia Oranburg , Ana S A Cohen , Keith A Coffman , Maya R Brown , Kirill Kiselyov , Quinten Waisfisz , Myrthe T Flohil , Shahyan Siddiqui , Jill A Rosenfeld , Alejandro Iglesias , Nicole I Wolf , Quasar Saleem Padiath , Anju Shukla

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Nature genetics
Avec: Ricardo Moreno Traspas , Tze Shin Teoh , Pui-Mun Wong , Michael Maier , Crystal Y Chia , Kenneth Lay , Nur Ain Ali , Austin Larson , Fuad Al Mutairi , Nouriya Abbas Al-Sannaa , Eissa Ali Faqeih , Majid Alfadhel , Huma Arshad Cheema , Juliette Dupont , Stéphane Bézieau , Bertrand Isidor , Dorrain Yanwen Low , Yulan Wang , Grace Tan , Poh San Lai , Hugues Piloquet , Madeleine Joubert , Hulya Kayserili , Kimberly A Kripps , Shareef A Nahas , Eric P Wartchow , Mikako Warren , Gandham SriLakshmi Bhavani , Majed Dasouki , Renata Sandoval , Elisa Carvalho , Luiza Ramos , Gilda Porta , Bin Wu , Harsha Prasada Lashkari , Badr AlSaleem , Raeda M BaAbbad , Anabela Natália Abreu Ferrão , Vasiliki Karageorgou , Natalia Ordonez-Herrera , Suliman Khan , Peter Bauer , Benjamin Cogne , Aida M Bertoli-Avella , Marie Vincent , Bruno Reversade

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.

American journal of medical genetics. Part A
Avec: Swati Singh , Hitesh Shah , Ashwin Dalal , Anju Shukla , Gandham SriLakshmi Bhavani , Katta M Girisha

Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.

Prenatal diagnosis
Avec: Subrahmanya Vasishta , Akkatai S Teli , Akhila Vasudeva , Katta M Girisha , Shalini S Nayak

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.

European journal of human genetics : EJHG
Avec: Almundher Al-Maawali , Fathiya Al-Murshedi , Amna Al-Futaisi , Ahmed Mansy , Asila Al-Habsi , Katta M Girisha

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

Nature communications
Avec: Elizabeth A Werren , Geneva R LaForce , Anshika Srivastava , Delia R Perillo , Shaokun Li , Katherine Johnson , Safa Baris , Brandon Berger , Samantha L Regan , Christian D Pfennig , Sonja de Munnik , Rolph Pfundt , Malavika Hebbar , Raúl Jimenez-Heredia , Elif Karakoc-Aydiner , Ahmet Ozen , Jasmin Dmytrus , Ana Krolo , Ken Corning , E J Prijoles , Raymond J Louie , Robert Roger Lebel , Thuy-Linh Le , Jeanne Amiel , Christopher T Gordon , Kaan Boztug , Katta M Girisha , Anju Shukla , Stephanie L Bielas , Ashleigh E Schaffer

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

European journal of human genetics : EJHG
Avec: Swati Singh , Sheela Nampoothiri , Dhanya Lakshmi Narayanan , Chakshu Chaudhry , Sandesh Salvankar , Katta M Girisha

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics
Avec: Maya Chopra , Meriel McEntagart , Jill Clayton-Smith , Konrad Platzer , Anju Shukla , Katta M Girisha , Anupriya Kaur , Parneet Kaur , Rolph Pfundt , Hermine Veenstra-Knol , Grazia M S Mancini , Gerarda Cappuccio , Nicola Brunetti-Pierri , Fanny Kortüm , Maja Hempel , Jonas Denecke , Anna Lehman , Auteur inconnu , Tjitske Kleefstra , Kyra E Stuurman , Martina Wilke , Michelle L Thompson , E Martina Bebin , Emilia K Bijlsma , Mariette J V Hoffer , Cacha Peeters-Scholte , Anne Slavotinek , William A Weiss , Tiffany Yip , Ugur Hodoglugil , Amy Whittle , Janette diMonda , Juanita Neira , Sandra Yang , Amelia Kirby , Hailey Pinz , Rosan Lechner , Frank Sleutels , Ingo Helbig , Sarah McKeown , Katherine Helbig , Rebecca Willaert , Jane Juusola , Jennifer Semotok , Medard Hadonou , John Short , Auteur inconnu , Naomi Yachelevich , Sajel Lala , Alberto Fernández-Jaen , Janvier Porta Pelayo , Chiara Klöckner , Susanne B Kamphausen , Rami Abou Jamra , Maria Arelin , A Micheil Innes , Anni Niskakoski , Sam Amin , Maggie Williams , Julie Evans , Sarah Smithson , Damian Smedley , Anna de Burca , Usha Kini , Martin B Delatycki , Lyndon Gallacher , Alison Yeung , Lynn Pais , Michael Field , Ellenore Martin , Perrine Charles , Thomas Courtin , Boris Keren , Maria Iascone , Anna Cereda , Gemma Poke , Véronique Abadie , Christel Chalouhi , Padmini Parthasarathy , Benjamin J Halliday , Stephen P Robertson , Stanislas Lyonnet , Jeanne Amiel , Christopher T Gordon

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.

Human mutation
Avec: Priyanka Upadhyai , Periyasamy Radhakrishnan , Vishal S Guleria , Neethukrishna Kausthubham , Shalini S Nayak , Andrea Superti-Furga , Katta M Girisha

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.

American journal of medical genetics. Part A
Avec: Puneeth H Somashekar , Priyanka Upadhyai , Dhanya L Narayanan , Nutan Kamath , Shruti Bajaj , Katta M Girisha , Anju Shukla

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

American journal of medical genetics. Part A
Avec: Katta M Girisha , Gandham S Bhavani , Hitesh Shah , Amita Moirangthem , Anju Shukla , Ok-Hwa Kim , Gen Nishimura , Geert R Mortier

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

American journal of medical genetics. Part A
Avec: Dhanya L Narayanan , Anju Shukla , Neethukrishna Kausthubham , Gandham S Bhavani , Hitesh Shah , Geert Mortier , Katta M Girisha

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

American journal of human genetics
Avec: Hae Ryung Chang , Sung Yoon Cho , Jae Hoon Lee , Eunkyung Lee , Jieun Seo , Hye Ran Lee , Denise P Cavalcanti , Outi Mäkitie , Helena Valta , Katta M Girisha , Chung Lee , Kausthubham Neethukrishna , Gandham S Bhavani , Anju Shukla , Sheela Nampoothiri , Shubha R Phadke , Mi Jung Park , Shiro Ikegawa , Zheng Wang , Martin R Higgs , Grant S Stewart , Eunyoung Jung , Myeong-Sok Lee , Jong Hoon Park , Eun A Lee , Hongtae Kim , Kyungjae Myung , Woosung Jeon , Kyoungyeul Lee , Dongsup Kim , Ok-Hwa Kim , Murim Choi , Han-Woong Lee , Yonghwan Kim , Tae-Joon Cho

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.

American journal of medical genetics. Part A
Avec: Parneet Kaur , Kausthubham Neethukrishna , Ali Kumble , Katta M Girisha , Anju Shukla

Cornelia de Lange syndrome in diverse populations.

American journal of medical genetics. Part A
Avec: Leah Dowsett , Antonio R Porras , Paul Kruszka , Brandon Davis , Tommy Hu , Engela Honey , Eben Badoe , Meow-Keong Thong , Eyby Leon , Katta M Girisha , Anju Shukla , Shalini S Nayak , Vorasuk Shotelersuk , Andre Megarbane , Shubha Phadke , Nirmala D Sirisena , Vajira H W Dissanayake , Carlos R Ferreira , Monisha S Kisling , Pranoot Tanpaiboon , Annette Uwineza , Leon Mutesa , Cedrik Tekendo-Ngongang , Ambroise Wonkam , Karen Fieggen , Leticia Cassimiro Batista , Danilo Moretti-Ferreira , Roger E Stevenson , Eloise J Prijoles , David Everman , Kate Clarkson , Jessica Worthington , Virginia Kimonis , Fuki Hisama , Carol Crowe , Paul Wong , Kisha Johnson , Robin D Clark , Lynne Bird , Diane Masser-Frye , Marie McDonald , Patrick Willems , Elizabeth Roeder , Sulgana Saitta , Kwame Anyane-Yeoba , Laurie Demmer , Naoki Hamajima , Zornitza Stark , Greta Gillies , Louanne Hudgins , Usha Dave , Stavit Shalev , Victoria Siu , Ann Ades , Holly Dubbs , Sarah Raible , Maninder Kaur , Emanuela Salzano , Laird Jackson , Matthew Deardorff , Antonie Kline , Marshall Summar , Maximilian Muenke , Marius George Linguraru , Ian D Krantz

Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.

Pacing and clinical electrophysiology : PACE
Avec: Maneesh K Rai , Rohith Pai , Mukund A Prabhu , Syed Waleem Pasha , Rakshith C Kedambadi , Padmanabh Kamath , Alfred J Augustine , Gangham SriLakshmi Bhavani , Katta M Girisha

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Clinical dysmorphology
Avec: Periyasamy Radhakrishnan , Amita Moirangthem , Shalini S Nayak , Anju Shukla , Mary Mathew , Katta M Girisha

Turner syndrome in diverse populations.

American journal of medical genetics. Part A
Avec: Paul Kruszka , Yonit A Addissie , Cedrik Tekendo-Ngongang , Kelly L Jones , Sarah K Savage , Neerja Gupta , Nirmala D Sirisena , Vajira H W Dissanayake , C Sampath Paththinige , Teresa Aravena , Sheela Nampoothiri , Dhanya Yesodharan , Katta M Girisha , Siddaramappa Jagdish Patil , Saumya Shekhar Jamuar , Jasmine Chew-Yin Goh , Agustini Utari , Nydia Sihombing , Rupesh Mishra , Neer Shoba Chitrakar , Brenda C Iriele , Ezana Lulseged , Andre Megarbane , Annette Uwineza , Elizabeth Eberechi Oyenusi , Oluwarotimi Bolaji Olopade , Olufemi Adetola Fasanmade , Milagros M Duenas-Roque , Meow-Keong Thong , Joanna Y L Tung , Gary T K Mok , Nicole Fleischer , Godfrey M Rwegerera , María Beatriz de Herreros , Johnathan Watts , Karen Fieggen , Victoria Huckstadt , Angélica Moresco , María Gabriela Obregon , Dalia Farouk Hussen , Neveen A Ashaat , Engy A Ashaat , Brian H Y Chung , Eben Badoe , Sultana M H Faradz , Mona O El Ruby , Vorasuk Shotelersuk , Ambroise Wonkam , Ekanem Nsikak Ekure , Shubha R Phadke , Antonio Richieri-Costa , Maximilian Muenke

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

American journal of medical genetics. Part A
Avec: Pauline E Schneeberger , Shalini S Nayak , Sigrid Fuchs , Kerstin Kutsche , Katta M Girisha

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

American journal of human genetics
Avec: Jessica X Chong , Jared C Talbot , Emily M Teets , Samantha Previs , Brit L Martin , Kathryn M Shively , Colby T Marvin , Arthur S Aylsworth , Reem Saadeh-Haddad , Ulrich A Schatz , Francesca Inzana , Tawfeg Ben-Omran , Fatima Almusafri , Mariam Al-Mulla , Kati J Buckingham , Tamar Harel , Hagar Mor-Shaked , Periyasamy Radhakrishnan , Katta M Girisha , Shalini S Nayak , Anju Shukla , Klaus Dieterich , Julien Faure , John Rendu , Yline Capri , Xenia Latypova , Deborah A Nickerson , David M Warshaw , Paul M L Janssen , Auteur inconnu , Sharon L Amacher , Michael J Bamshad

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Clinical dysmorphology
Avec: Swati Singh , Vaishnavi Ashok Badiger , Suma Balan , Sheela Nampoothiri , Anand Prahalad Rao , Hitesh Shah , Gandham SriLakshmi Bhavani , Dhanya Lakshmi Narayanan , Katta M Girisha

Perspectives on the future of dysmorphology.

American journal of medical genetics. Part A
Avec: Benjamin D Solomon , Margaret P Adam , Chin-To Fong , Katta M Girisha , Judith G Hall , Anna C E Hurst , Peter M Krawitz , Shahida Moosa , Shubha R Phadke , Cedrik Tekendo-Ngongang , Tara L Wenger

Exome Sequencing in Monogenic Forms of Rickets.

Indian journal of pediatrics
Avec: Prince Jacob , Gandham SriLakshmi Bhavani , Prajna Udupa , Zheng Wang , Sankar V Hariharan , Kishan Delampady , Ashwin Dalal , Nutan Kamath , Shiro Ikegawa , Rathika D Shenoy , Koushik Handattu , Hitesh Shah , Katta M Girisha

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Clinical genetics
Avec: Purvi Majethia , Namanpreet Kaur , Selinda Mascarenhas , Lakshmi Priya Rao , Shruti Pande , Dhanya Lakshmi Narayanan , Vivekananda Bhat , Shalini S Nayak , Karthik Vijay Nair , Adarsh Pooradan Prasannakumar , Ankur Chaurasia , Bhagesh Hunakunti , Nalesh Jadhav , Sheeba Farooqui , Mayuri Yeole , Vishaka Kothiwale , Rohit Naik , Veena Bhat , Shrikiran Aroor , Leslie Lewis , Jayashree Purkayastha , Y Ramesh Bhat , B K Praveen , B L Yatheesha , Siddaramappa J Patil , Sheela Nampoothiri , Nutan Kamath , Shahyan Siddiqui , Stephanie Bielas , Suvasini Sharma , Anju Shukla

PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.

American journal of medical genetics. Part A
Avec: Sivagamy Sithambaram , Prince Jacob , Kausthubham Neethukrishna , Gandham SriLakshmi Bhavani , Ashwin Dalal , Hitesh Shah ,

KBG Syndrome in 16 Indian Individuals.

American journal of medical genetics. Part A
Avec: Shruti Bajaj , Sheela Nampoothiri , Roshni Chugh , Jayesh Sheth , Frenny Sheth , Harsh Sheth , Vinu Narayan , Ameya Deshpande , Anaita Hegde , Aradhana Dwivedi , Dhanya Yeshodharan , Indu Khosla , Madhukar Mittal , Mahesh Kore , Vedam Ramprasad , Anbu Kayalvizhi C , Katta M Girisha

Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next-Generation Sequencing.

Indian pediatrics
Avec: Dhanya Lakshmi Narayanan ,

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Journal of human genetics
Avec: Divya Pasumarthi , Neerja Gupta , Jayesh Sheth , S Jamal Md Nurul Jain , Ikrormi Rungsung , Madhulika Kabra , Prajnya Ranganath , Shagun Aggarwal , Shubha R Phadke , Katta M Girisha , Anju Shukla , Chaitanya Datar , Ishwar C Verma , Ratna Dua Puri , Riddhi Bhavsar , Mehul Mistry , V H Sankar , Kalpana Gowrishankar , Divya Agrawal , Mohandas Nair , Sumita Danda , Jai Prakash Soni , Ashwin Dalal

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.

American journal of medical genetics. Part A
Avec: Periyasamy Radhakrishnan , Anju Shukla , Katta M Girisha , Shalini S Nayak

Meckel syndrome: Clinical and mutation profile in six fetuses.

Clinical genetics
Avec: Periyasamy Radhakrishnan , Shalini S Nayak , Anju Shukla , Anna Lindstrand , Katta M Girisha

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

Journal of human genetics
Avec: Parneet Kaur , Gandham SriLakshmi Bhavani , Arun Raj , Anju Shukla

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

American journal of human genetics
Avec: Davut Pehlivan , Yavuz Bayram , Nilay Gunes , Zeynep Coban Akdemir , Anju Shukla , Tatjana Bierhals , Burcu Tabakci , Yavuz Sahin , Alper Gezdirici , Jawid M Fatih , Elif Yilmaz Gulec , Gozde Yesil , Jaya Punetha , Zeynep Ocak , Christopher M Grochowski , Ender Karaca , Hatice Mutlu Albayrak , Periyasamy Radhakrishnan , Haktan Bagis Erdem , Ibrahim Sahin , Timur Yildirim , Ilhan A Bayhan , Aysegul Bursali , Muhsin Elmas , Zafer Yuksel , Ozturk Ozdemir , Fatma Silan , Onur Yildiz , Osman Yesilbas , Sedat Isikay , Burhan Balta , Shen Gu , Shalini N Jhangiani , Harsha Doddapaneni , Jianhong Hu , Donna M Muzny , Auteur inconnu , Eric Boerwinkle , Richard A Gibbs , Konstantinos Tsiakas , Maja Hempel , Davut Gul , Jennifer E Posey , Nursel H Elcioglu , Beyhan Tuysuz , James R Lupski

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clinical genetics
Avec: Puneeth H Somashekar , Katta M Girisha , Sheela Nampoothiri , Kalpana Gowrishankar , Radha R Devi , Neerja Gupta , Dhanya L Narayanan , Anupriya Kaur , Shruti Bajaj , Sujatha Jagadeesh , Leslie E S Lewis , Shenoy Shailaja , Anju Shukla

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

European journal of medical genetics
Avec: Anil Kanthi , Malavika Hebbar , Stephanie L Bielas , Katta M Girisha , Anju Shukla

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Scientific reports
Avec: Shalini S Nayak , Pauline E Schneeberger , Siddaramappa J Patil , Karegowda M Arun , Pujar V Suresh , Viralam S Kiran , Sateesh Siddaiah , Shreesha Maiya , Shrikanth K Venkatachalagupta , Neethukrishna Kausthubham , Fanny Kortüm , Isabella Rau , Alexandra Wey-Fabrizius , Lotte Van Den Heuvel , Josephina Meester , Lut Van Laer , Anju Shukla , Bart Loeys , Katta M Girisha , Kerstin Kutsche

Three M syndrome 2 in two Indian patients.

American journal of medical genetics. Part A
Avec: Prince Jacob , Katta M Girisha

Genetic disorders with central nervous system white matter abnormalities: An update.

Clinical genetics
Avec: Anju Shukla , Parneet Kaur , Dhanya Lakshmi Narayanan , Michelle C do Rosario , Rajagopal Kadavigere ,

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.

American journal of medical genetics. Part A
Avec: Purvi Majethia ,

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

American journal of medical genetics. Part A
Avec: Puneeth H Somashekar , Dhanya L Narayanan , Sujatha Jagadeesh , Beena Suresh , Reddy D Vaishnavi , Stephanie Bielas , Katta M Girisha , Anju Shukla

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

Clinical genetics
Avec: Puneeth H Somashekar , Parneet Kaur , Joshi Stephen , Vishal Singh Guleria , Rajagopal Kadavigere , Stephanie Bielas , Priyanka Upadhyai , Anju Shukla

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.

Indian journal of pediatrics
Avec: Harsha Prasada Lashkari , Manisha Madkaikar , Aparna Dalvi , Maya Gupta , Jacinta Bustamante , Madhubala Sharma , Amit Rawat , Prateek Bhatia , Kamalakshi G Bhat , Sadashiva Rao , Nutan Kamath , Faheem Moideen , Sylvain Latour , Sarah Winter , Gandham SriLakshmi Bhavani , Katta M Girisha

Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.

Journal of pediatric genetics
Avec: Parag M Tamhankar , Lakshmi Vasudevan , Pratima Kondurkar , Sarfaraj Niazi , Rita Christopher , Dhaval Solanki , Pooja Dholakia , Mamta Muranjan , Mahesh Kamate , Umesh Kalane , Jayesh Sheth , Vasundhara Tamhankar , Reena Gulati , Madhavi Vasikarla , Sumita Danda , Shaik M Naushad , Katta M Girisha , Shekhar Patil

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.

Journal of medical genetics
Avec: Sarah Verheyen , Jasmin Blatterer , Michael R Speicher , Gandham SriLakshmi Bhavani , Geert-Jan Boons , Mai-Britt Ilse , Dominik Andrae , Jens Sproß , Frédéric Maxime Vaz , Susanne G Kircher , Laura Posch-Pertl , Daniela Baumgartner , Torben Lübke , Hitesh Shah , Ali Al Kaissi , Katta M Girisha , Barbara Plecko

Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics.

Indian pediatrics
Avec: Monica Juneja , Arpita Gupta , Smitha Sairam , Ridhimaa Jain , Monika Sharma , Anjana Thadani , Roopa Srinivasan , Lokesh Lingappa , Shabina Ahmed , K S Multani , Pankaj Buch , Nandita Chatterjee , Samir Dalwai , Madhulika Kabra , Seema Kapoor , Prarthana Kharod Patel , K M Girisha , Madhuri Kulkarni , P A M Kunju , Prahbhjot Malhi , Zafar Meenai , Devendra Mishra , Nandini Mundkur , M K C Nair , Samuel Philip Oommen , Chhaya Prasad , Arun Singh , Leena Srivastava , Praveen Suman , Rahul Thakur

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.

Journal of medical genetics
Avec: Kruti Varshney , Sanjeeva Ghanti Narayanachar , Katta M Girisha , Gandham SriLakshmi Bhavani , Dhanyalakshmi Narayanan , Shubha Phadke , Sheela Nampoothiri , Gautham Arunachal Udupi , Palany Raghupathy , Mohandas Nair , Thenral S Geetha , Meenakshi Bhat

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

American journal of medical genetics. Part A
Avec: Prince Jacob , Gandham Sri Lakshmi Bhavani , Hitesh Shah , Chelna Galada , Sheela Nampoothiri , Nutan Kamath , Shubha R Phadke , Mamta Muranjan , Chaitanya A Datar , Anju Shukla , Katta M Girisha

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

NPJ genomic medicine
Avec: Prince Jacob , Hillevi Lindelöf , Cecilie F Rustad , Vernon Reid Sutton , Shahida Moosa , Prajna Udupa , Anna Hammarsjö , Gandham SriLakshmi Bhavani , Dominyka Batkovskyte , Kristian Tveten , Ashwin Dalal , Eva Horemuzova , Ann Nordgren , Emma Tham , Hitesh Shah , Else Merckoll , Laura Orellana , Gen Nishimura , Katta M Girisha , Giedre Grigelioniene

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

European journal of human genetics : EJHG
Avec: Shruti Pande , Purvi Majethia , Karthik Nair , Lakshmi Priya Rao , Selinda Mascarenhas , Namanpreet Kaur , Michelle C do Rosario , Kausthubham Neethukrishna , Ankur Chaurasia , Bhagesh Hunakunti , Nalesh Jadhav , Sruthy Xavier , Jeevan Kumar , Vivekananda Bhat , Gandham SriLakshmi Bhavani , Dhanya Lakshmi Narayanan , B L Yatheesha , Siddaramappa J Patil , Sheela Nampoothiri , Nutan Kamath , Shrikiran Aroor , Ramesh Bhat Y , Leslie E Lewis , Suvasini Sharma , Shruti Bajaj , Naveen Sankhyan , Shahyan Siddiqui , Shalini S Nayak , Stephanie Bielas , Anju Shukla

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

American journal of medical genetics. Part A
Avec: Mayuri Yeole , Purvi Majethia , Shahyan Siddiqui , Anju Shukla , Periyasamy Radhakrishnan , Vivekananda Bhat

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

American journal of medical genetics. Part A
Avec: Namanpreet Kaur , Michelle C do Rosario , Purvi Majethia , Selinda Mascarenhas , Lakshmi Priya Rao , Karthik Vijay Nair , Bhagesh Hunakunti , Adarsh Pooradan Prasannakumar , Rohit Naik , Dhanya Lakshmi Narayanan , Shalini S Nayak , Vivekananda Bhat , Suvasini Sharma , Y Ramesh Bhat , B L Yatheesha , Rajesh Kulkarni , Siddaramappa J Patil , Sheela Nampoothiri , Shahyan Siddiqui , Stephanie Bielas , Anju Shukla

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.

Gene
Avec: Puneeth H Somashekar , Priyanka Upadhyai , Anju Shukla , Katta M Girisha

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Human molecular genetics
Avec: Marie Alice Dupont , Camille Humbert , Céline Huber , Quentin Siour , Ida Chiara Guerrera , Vincent Jung , Anni Christensen , Aurore Pouliet , Meriem Garfa-Traoré , Patrick Nitschké , Marie Injeyan , Kathryn Millar , David Chitayat , Patrick Shannon , Anju Shukla , Charlotte Mechler , Esben Lorentzen , Alexandre Benmerah , Valérie Cormier-Daire , Cécile Jeanpierre , Sophie Saunier , Marion Delous

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.

American journal of medical genetics. Part A
Avec: Anju Shukla , Katta M Girisha , Puneeth H Somashekar , Sheela Nampoothiri , Rebecca McClellan , Hilary J Vernon

Genomic and phenotypic delineation of congenital microcephaly.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ranad Shaheen , Sateesh Maddirevula , Nour Ewida , Saud Alsahli , Ghada M H Abdel-Salam , Maha S Zaki , Saeed Al Tala , Amal Alhashem , Ameen Softah , Mohammed Al-Owain , Anas M Alazami , Basma Abadel , Nisha Patel , Tarfa Al-Sheddi , Rana Alomar , Eman Alobeid , Niema Ibrahim , Mais Hashem , Firdous Abdulwahab , Muddathir Hamad , Brahim Tabarki , Ali H Alwadei , Fahad Alhazzani , Fahad A Bashiri , Amal Kentab , Serdar Şahintürk , Elliott Sherr , Brieana Fregeau , Samira Sogati , Saad Ali M Alshahwan , Salwa Alkhalifi , Zainab Alhumaidi , Samia Temtamy , Mona Aglan , Ghada Otaify , Katta M Girisha , Maha Tulbah , Mohammed Zain Seidahmed , Mustafa A Salih , Mohamed Abouelhoda , Afaque A Momin , Muna Al Saffar , Jennifer N Partlow , Stefan T Arold , Eissa Faqeih , Christopher Walsh , Fowzan S Alkuraya

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Brain : a journal of neurology
Avec: Nicole J Van Bergen , Yiran Guo , Julia Rankin , Nicole Paczia , Julia Becker-Kettern , Laura S Kremer , Angela Pyle , Jean-François Conrotte , Carolyn Ellaway , Peter Procopis , Kristina Prelog , Tessa Homfray , Júlia Baptista , Emma Baple , Matthew Wakeling , Sean Massey , Daniel P Kay , Anju Shukla , Katta M Girisha , Leslie E S Lewis , Saikat Santra , Rachel Power , Piers Daubeney , Julio Montoya , Eduardo Ruiz-Pesini , Reka Kovacs-Nagy , Martin Pritsch , Uwe Ahting , David R Thorburn , Holger Prokisch , Robert W Taylor , John Christodoulou , Carole L Linster , Sian Ellard , Hakon Hakonarson

GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

Clinical dysmorphology
Avec: Parneet Kaur , Shivani Mishra , Shimoga M Rajesh , Katta M Girisha , Anju Shukla

Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.

Clinical genetics
Avec: Umut Altunoglu , Esra Börklü , Anju Shukla , Nathalie Escande-Beillard , Susanne Ledig , Hülya Azaklı , Shalini S Nayak , Serpil Eraslan , Ingo Kennerknecht , Hülya Kayserili

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.

Translational psychiatry
Avec: Taimoor I Sheikh , Nasim Vasli , Stephen Pastore , Kimia Kharizi , Ricardo Harripaul , Zohreh Fattahi , Shruti Pande , Farooq Naeem , Abrar Hussain , Asif Mir , Omar Islam , Muhammad Irfan , Muhammad Ayub , Christoph Schwarzer , Hossein Najmabadi , Anju Shukla , Valentina C Sladky , Vincent Zoran Braun , Irmina Garcia-Carpio , Andreas Villunger , John B Vincent

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

American journal of human genetics
Avec: Leslie G Biesecker , Margaret P Adam , Fowzan S Alkuraya , Anne R Amemiya , Michael J Bamshad , Anita E Beck , James T Bennett , Lynne M Bird , John C Carey , Brian Chung , Robin D Clark , Timothy C Cox , Cynthia Curry , Mary Beth Palko Dinulos , William B Dobyns , Philip F Giampietro , Katta M Girisha , Ian A Glass , John M Graham , Karen W Gripp , Chad R Haldeman-Englert , Bryan D Hall , A Micheil Innes , Jennifer M Kalish , Kim M Keppler-Noreuil , Kenjiro Kosaki , Beth A Kozel , Ghayda M Mirzaa , John J Mulvihill , Malgorzata J M Nowaczyk , Roberta A Pagon , Kyle Retterer , Alan F Rope , Pedro A Sanchez-Lara , Laurie H Seaver , Joseph T Shieh , Anne M Slavotinek , Andrew K Sobering , Cathy A Stevens , David A Stevenson , Tiong Yang Tan , Wen-Hann Tan , Anne C Tsai , David D Weaver , Marc S Williams , Elaine Zackai , Yuri A Zarate

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

American journal of human genetics
Avec: Yuh-Charn Lin , Marcello Niceta , Valentina Muto , Barbara Vona , Alistair T Pagnamenta , Reza Maroofian , Christian Beetz , Hermine van Duyvenvoorde , Maria Lisa Dentici , Peter Lauffer , Sadeq Vallian , Andrea Ciolfi , Simone Pizzi , Peter Bauer , Nana-Maria Grüning , Emanuele Bellacchio , Andrea Del Fattore , Stefania Petrini , Ranad Shaheen , Dov Tiosano , Rana Halloun , Ben Pode-Shakked , Hatice Mutlu Albayrak , Emregül Işık , Jan M Wit , Marcus Dittrich , Bruna L Freire , Debora R Bertola , Alexander A L Jorge , Ortal Barel , Ataf H Sabir , Amal M J Al Tenaiji , Sulaima M Taji , Nouriya Al-Sannaa , Hind Al-Abdulwahed , Maria Cristina Digilio , Melita Irving , Yair Anikster , Gandham S L Bhavani , Katta M Girisha , Auteur inconnu , Thomas Haaf , Jenny C Taylor , Bruno Dallapiccola , Fowzan S Alkuraya , Ruey-Bing Yang , Marco Tartaglia

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Journal of human genetics
Avec: Anna Hammarsjö , Maria Pettersson , David Chitayat , Atsuhiko Handa , Britt-Marie Anderlid , Marco Bartocci , Donald Basel , Dominyka Batkovskyte , Ana Beleza-Meireles , Peter Conner , Jesper Eisfeldt , Katta M Girisha , Brian Hon-Yin Chung , Eva Horemuzova , Hironobu Hyodo , Liene Korņejeva , Kristina Lagerstedt-Robinson , Angela E Lin , Måns Magnusson , Shahida Moosa , Shalini S Nayak , Daniel Nilsson , Hirofumi Ohashi , Naoko Ohashi-Fukuda , Henrik Stranneheim , Fulya Taylan , Rasa Traberg , Ulrika Voss , Valtteri Wirta , Ann Nordgren , Gen Nishimura , Anna Lindstrand , Giedre Grigelioniene

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

American journal of human genetics
Avec: Alban Ziegler , Rémi Duclaux-Loras , Céline Revenu , Fabienne Charbit-Henrion , Bernadette Begue , Karine Duroure , Linda Grimaud , Anne Laure Guihot , Valérie Desquiret-Dumas , Mohammed Zarhrate , Nicolas Cagnard , Emmanuel Mas , Anne Breton , Thomas Edouard , Clarisse Billon , Michael Frank , Estelle Colin , Guy Lenaers , Daniel Henrion , Stanislas Lyonnet , Laurence Faivre , Yves Alembik , Anaïs Philippe , Bruno Moulin , Eyal Reinstein , Shay Tzur , Ruben Attali , George McGillivray , Susan M White , Lyndon Gallacher , Kerstin Kutsche , Pauline Schneeberger , Katta M Girisha , Shalini S Nayak , Lynn Pais , Reza Maroofian , Aboulfazl Rad , Barbara Vona , Ehsan Ghayoor Karimiani , Caroline Lekszas , Thomas Haaf , Ludovic Martin , Frank Ruemmele , Dominique Bonneau , Nadine Cerf-Bensussan , Filippo Del Bene , Marianna Parlato

Trichothiodystrophy type 4 in an Indian family.

American journal of medical genetics. Part A
Avec: Shruti Pande , Anju Shukla ,

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.

Human mutation
Avec: Tess Holling , Gandham S Bhavani , Leonie von Elsner , Hitesh Shah , Neethukrishna Kausthubham , Shaila S Bhattacharyya , Anju Shukla , Geert R Mortier , Thorsten Schinke , Tatyana Danyukova , Sandra Pohl , Kerstin Kutsche , Katta M Girisha

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.

Human genetics
Avec: Smrithi Salian , Xin-Yu Guo , Yoshiko Murakami , Taroh Kinoshita , Parneet Kaur , Anju Shukla , Katta M Girisha , Morihisa Fujita , Philippe M Campeau

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Journal of the European Academy of Dermatology and Venereology : JEADV
Avec: B Vona , D A Schwartzbaum , A A Rodriguez , S S Lewis , M B Toosi , P Radhakrishnan , N Bozan , R Akın , M Doosti , R Manju , D Duman , C J Sineni , S Nampoothiri , E G Karimiani , H Houlden , G Bademci , M Tekin , K M Girisha , R Maroofian , S Douzgou

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Reem Al-Jawahiri , Aidin Foroutan , Jennifer Kerkhof , Haley McConkey , Michael Levy , Sadegheh Haghshenas , Kathleen Rooney , Jasmin Turner , Debbie Shears , Muriel Holder , Henrietta Lefroy , Bruce Castle , Linda M Reis , Elena V Semina , Auteur inconnu , Katherine Lachlan , Kate Chandler , Thomas Wright , Jill Clayton-Smith , Franziska Phan Hug , Nelly Pitteloud , Lucia Bartoloni , Sabine Hoffjan , Soo-Mi Park , Ajay Thankamony , Melissa Lees , Emma Wakeling , Swati Naik , Britta Hanker , Katta M Girisha , Emanuele Agolini , Zampino Giuseppe , Ziegler Alban , Marine Tessarech , Boris Keren , Alexandra Afenjar , Christiane Zweier , Andre Reis , Thomas Smol , Yoshinori Tsurusaki , Okamoto Nobuhiko , Futoshi Sekiguchi , Naomi Tsuchida , Naomichi Matsumoto , Ikuyo Kou , Yoshiro Yonezawa , Shiro Ikegawa , Bert Callewaert , Megan Freeth , Auteur inconnu , Lotte Kleinendorst , Alan Donaldson , Marielle Alders , Anne De Paepe , Bekim Sadikovic , Alisdair McNeill

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

American journal of medical genetics. Part A
Avec: Swati Singh , Prince Jacob , Siddaramappa J Patil , Mamta Muranjan , Hitesh Shah , Katta M Girisha , Gandham SriLakshmi Bhavani

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.

Clinical dysmorphology
Avec: Mangalore S Shravya , Katta M Girisha , Shalini S Nayak

The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.

Aging cell
Avec: Debasish Kumar Ghosh , Shruti Pande , Jeevan Kumar , Dhanya Yesodharan , Sheela Nampoothiri , Periyasamy Radhakrishnan , Chilakala Gangi Reddy , Akash Ranjan , Katta M Girisha

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.

Human mutation
Avec: Pelin Ozlem Simsek-Kiper , Prince Jacob , Priyanka Upadhyai , Zihni Ekim Taşkıran , Vishal S Guleria , Beren Karaosmanoglu , Gozde Imren , Rahsan Gocmen , Gandham S Bhavani , Neethukrishna Kausthubham , Hitesh Shah , Gulen Eda Utine , Koray Boduroglu , Katta M Girisha

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.

Journal of human genetics
Avec: Prajna Udupa , Debasish Kumar Ghosh , Neethukrishna Kausthubham , Hitesh Shah , Sandip Bartakke , Ashwin Dalal , Katta M Girisha , Gandham SriLakshmi Bhavani

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

American journal of medical genetics. Part A
Avec: Shalini S Nayak , Robert Harkness , Anju Shukla , Siddharth Banka , William G Newman , Katta M Girisha

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Human genetics
Avec: Franziska Schnabel , Elisabeth Schuler , Almundher Al-Maawali , Ankur Chaurasia , Steffen Syrbe , Adila Al-Kindi , Gandham SriLakshmi Bhavani , Anju Shukla , Janine Altmüller , Peter Nürnberg , Siddharth Banka , Katta M Girisha , Yun Li , Bernd Wollnik , Gökhan Yigit

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.

American journal of medical genetics. Part A
Avec: Shruti Pande , Selinda Mascarenhas , Aishwarya Venkatraman , Vivekananda Bhat , Dhanya Lakshmi Narayanan , Shahyan Siddiqui , Stephanie Bielas , Anju Shukla

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

European journal of human genetics : EJHG
Avec: Lisa G Riley , Subrata Sabui , Hamid M Said , Aram Niaz , Katta M Girisha , Periyasamy Radhakrishnan , Sheela Nampoothiri , Dhanya Yesodharan , Tatjana Kilo , Janine Smith , Rachel S H Wong , Manoj P Menezes , Sachin Gupta , Sandra T Cooper , Shanti Balasubramaniam

Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India.

Clinical and experimental dermatology
Avec: S S Lewis , K M Girisha

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Journal of human genetics
Avec: Futoshi Sekiguchi , Yoshinori Tsurusaki , Nobuhiko Okamoto , Keng Wee Teik , Seiji Mizuno , Hiroshi Suzumura , Bertrand Isidor , Winnie Peitee Ong , Muzhirah Haniffa , Susan M White , Mari Matsuo , Kayoko Saito , Shubha Phadke , Tomoki Kosho , Patrick Yap , Manisha Goyal , Lorne A Clarke , Rani Sachdev , George McGillivray , Richard J Leventer , Chirag Patel , Takanori Yamagata , Hitoshi Osaka , Yoshiya Hisaeda , Hirofumi Ohashi , Kenji Shimizu , Keisuke Nagasaki , Junpei Hamada , Sumito Dateki , Takashi Sato , Yasutsugu Chinen , Tomonari Awaya , Takeo Kato , Kougoro Iwanaga , Masahiko Kawai , Takashi Matsuoka , Yoshikazu Shimoji , Tiong Yang Tan , Seema Kapoor , Nerine Gregersen , Massimiliano Rossi , Mathieu Marie-Laure , Lesley McGregor , Kimihiko Oishi , Lakshmi Mehta , Greta Gillies , Paul J Lockhart , Kate Pope , Anju Shukla , Ghada M H Abdel-Salam , David Mowat , David Coman , Ok Hwa Kim , Marie-Pierre Cordier , Kate Gibson , Jeff Milunsky , Jan Liebelt , Helen Cox , Salima El Chehadeh , Annick Toutain , Ken Saida , Hiromi Aoi , Gaku Minase , Naomi Tsuchida , Kazuhiro Iwama , Yuri Uchiyama , Toshifumi Suzuki , Kohei Hamanaka , Yoshiteru Azuma , Atsushi Fujita , Eri Imagawa , Eriko Koshimizu , Atsushi Takata , Satomi Mitsuhashi , Satoko Miyatake , Takeshi Mizuguchi , Noriko Miyake , Naomichi Matsumoto

Réseau de co-auteurs

Katta M Girisha 59 collaborations
Anju Shukla 48 collaborations
Shalini S Nayak 17 collaborations
Gandham SriLakshmi Bhavani 15 collaborations
Sheela Nampoothiri 15 collaborations
Hitesh Shah 13 collaborations
Parneet Kaur 10 collaborations
Periyasamy Radhakrishnan 10 collaborations
Dhanya Lakshmi Narayanan 9 collaborations
None None 7 collaborations
Prince Jacob 7 collaborations
Priyanka Upadhyai 6 collaborations
Kerstin Kutsche 6 collaborations
Shubha R Phadke 6 collaborations
Shahyan Siddiqui 6 collaborations
Ashwin Dalal 6 collaborations
Neethukrishna Kausthubham 6 collaborations
Puneeth H Somashekar 6 collaborations
Nutan Kamath 6 collaborations
Shruti Pande 6 collaborations
Stephanie Bielas 6 collaborations
Kausthubham Neethukrishna 5 collaborations
Mamta Muranjan 5 collaborations
Neerja Gupta 5 collaborations
Gandham S Bhavani 5 collaborations
Purvi Majethia 5 collaborations
Vivekananda Bhat 5 collaborations
Siddaramappa J Patil 5 collaborations
Suvasini Sharma 4 collaborations
Gen Nishimura 4 collaborations
Dhanya Yesodharan 4 collaborations
Madhulika Kabra 4 collaborations
Jayesh Sheth 4 collaborations
Michelle C do Rosario 4 collaborations
Swati Singh 4 collaborations
Dhanya L Narayanan 4 collaborations
Shruti Bajaj 4 collaborations
Selinda Mascarenhas 4 collaborations
Stephanie L Bielas 3 collaborations
Rajagopal Kadavigere 3 collaborations
Pauline E Schneeberger 3 collaborations
Sumita Danda 3 collaborations
Seema Kapoor 3 collaborations
Shivani Mishra 3 collaborations
Reza Maroofian 3 collaborations
Shiro Ikegawa 3 collaborations
Shubha Phadke 3 collaborations
Cedrik Tekendo-Ngongang 3 collaborations
Shahida Moosa 3 collaborations
Prajna Udupa 3 collaborations
Namanpreet Kaur 3 collaborations
Lakshmi Priya Rao 3 collaborations
Ankur Chaurasia 3 collaborations
Bhagesh Hunakunti 3 collaborations
B L Yatheesha 3 collaborations
K M Girisha 3 collaborations
Fowzan S Alkuraya 3 collaborations
Vishal Singh Guleria 2 collaborations
Leonie von Elsner 2 collaborations
Geert Mortier 2 collaborations
Tess Holling 2 collaborations
Naveen Sankhyan 2 collaborations
Prajnya Ranganath 2 collaborations
Ratna Dua Puri 2 collaborations
Shagun Aggarwal 2 collaborations
Chaitanya Datar 2 collaborations
Akash Ranjan 2 collaborations
Chiara Klöckner 2 collaborations
Maha S Zaki 2 collaborations
Rami Abou Jamra 2 collaborations
Konrad Platzer 2 collaborations
Bertrand Isidor 2 collaborations
Harsha Prasada Lashkari 2 collaborations
Peter Bauer 2 collaborations
Almundher Al-Maawali 2 collaborations
Rolph Pfundt 2 collaborations
Malavika Hebbar 2 collaborations
Jeanne Amiel 2 collaborations
Christopher T Gordon 2 collaborations
Jill Clayton-Smith 2 collaborations
Anupriya Kaur 2 collaborations
Fanny Kortüm 2 collaborations
Maja Hempel 2 collaborations
A Micheil Innes 2 collaborations
Lyndon Gallacher 2 collaborations
Lynn Pais 2 collaborations
Boris Keren 2 collaborations
Stanislas Lyonnet 2 collaborations
Vishal S Guleria 2 collaborations
Amita Moirangthem 2 collaborations
Ok-Hwa Kim 2 collaborations
Geert R Mortier 2 collaborations
Zheng Wang 2 collaborations
Paul Kruszka 2 collaborations
Eben Badoe 2 collaborations
Meow-Keong Thong 2 collaborations
Vorasuk Shotelersuk 2 collaborations
Andre Megarbane 2 collaborations
Nirmala D Sirisena 2 collaborations
Vajira H W Dissanayake 2 collaborations
Annette Uwineza 2 collaborations
Ambroise Wonkam 2 collaborations
Karen Fieggen 2 collaborations
Robin D Clark 2 collaborations
Greta Gillies 2 collaborations
Maximilian Muenke 2 collaborations
Michael J Bamshad 2 collaborations
Margaret P Adam 2 collaborations
Karthik Vijay Nair 2 collaborations
Adarsh Pooradan Prasannakumar 2 collaborations
Nalesh Jadhav 2 collaborations
Mayuri Yeole 2 collaborations
Rohit Naik 2 collaborations
Shrikiran Aroor 2 collaborations
Y Ramesh Bhat 2 collaborations
Kalpana Gowrishankar 2 collaborations
Mohandas Nair 2 collaborations
Anna Lindstrand 2 collaborations
Hatice Mutlu Albayrak 2 collaborations
Sujatha Jagadeesh 2 collaborations
Leslie E S Lewis 2 collaborations
Anna Hammarsjö 2 collaborations
Dominyka Batkovskyte 2 collaborations
Eva Horemuzova 2 collaborations
Ann Nordgren 2 collaborations
Giedre Grigelioniene 2 collaborations
Jeevan Kumar 2 collaborations
David Chitayat 2 collaborations
Ranad Shaheen 2 collaborations
Ghada M H Abdel-Salam 2 collaborations
Tiong Yang Tan 2 collaborations
Barbara Vona 2 collaborations
Thomas Haaf 2 collaborations
Hirofumi Ohashi 2 collaborations
George McGillivray 2 collaborations
Susan M White 2 collaborations
S S Lewis 2 collaborations
Yoshinori Tsurusaki 2 collaborations
Futoshi Sekiguchi 2 collaborations
Naomi Tsuchida 2 collaborations
Naomichi Matsumoto 2 collaborations
Debasish Kumar Ghosh 2 collaborations
Siddharth Banka 2 collaborations
Eram Fatima Amiri 1 collaboration
Mirjam M C Wamelink 1 collaboration
Marjo S van der Knaap 1 collaboration
Bedirhan Tarhan 1 collaboration
Kollencheri Puthenveettil Vinayan 1 collaboration
Arun Grace Roy 1 collaboration
Malik Alawi 1 collaboration
Lindsay Rhodes 1 collaboration
Peter B Kang 1 collaboration
Shruthi Sudarshan 1 collaboration
Atin Kumar 1 collaboration
Arun Gupta 1 collaboration
Neetu Bhari 1 collaboration
Gomathy Sethuraman 1 collaboration
Tanuja Kaushal 1 collaboration
Ankita Pradhan 1 collaboration
Savita Sapra 1 collaboration
Punit Kaur 1 collaboration
Sheffali Gulati 1 collaboration
Biswaroop Chakrawarty 1 collaboration
Meenakshi Bhatt 1 collaboration
Madhumita Roy Chowdhury 1 collaboration
Pranita Pai 1 collaboration
Anusha Uttarilli 1 collaboration
Dipti Deshpande 1 collaboration
Shailesh Kumar Gupta 1 collaboration
Asodu Sandeep Sarma 1 collaboration
Jamal Md Nurul Jain S 1 collaboration
Mehul Mistri 1 collaboration
Kausik Mandal 1 collaboration
Preetha Tilak 1 collaboration
Sunita Bijarnia-Mahay 1 collaboration
Radha Rama Devi A 1 collaboration
Naresh B Tayade 1 collaboration
Ashwin B Dalal 1 collaboration
J Pedro Fernández-Murray 1 collaboration
Mahtab Tavasoli 1 collaboration
Heinrich Sticht 1 collaboration
Gisela Stoltenburg-Didinger 1 collaboration
Leila Motlagh Scholle 1 collaboration
Somayeh Bakhtiari 1 collaboration
Michael C Kruer 1 collaboration
Hossein Darvish 1 collaboration
Saghar Ghasemi Firouzabadi 1 collaboration
Alex Pagnozzi 1 collaboration
Mahmoud M Noureldeen 1 collaboration
Andreas Merkenschlager 1 collaboration
Janina Gburek-Augustat 1 collaboration
Elisa Cali 1 collaboration
Selina Banu 1 collaboration
Kamrun Nahar 1 collaboration
Stephanie Efthymiou 1 collaboration
Henry Houlden 1 collaboration
Jason Williams 1 collaboration
Christopher R McMaster 1 collaboration
Guillermo Rodriguez Bey 1 collaboration
Bruce Nmezi 1 collaboration
Fang Liu 1 collaboration
Talia Oranburg 1 collaboration
Ana S A Cohen 1 collaboration
Keith A Coffman 1 collaboration
Maya R Brown 1 collaboration
Kirill Kiselyov 1 collaboration
Quinten Waisfisz 1 collaboration
Myrthe T Flohil 1 collaboration
Jill A Rosenfeld 1 collaboration
Alejandro Iglesias 1 collaboration
Nicole I Wolf 1 collaboration
Quasar Saleem Padiath 1 collaboration
Ricardo Moreno Traspas 1 collaboration
Tze Shin Teoh 1 collaboration
Pui-Mun Wong 1 collaboration
Michael Maier 1 collaboration
Crystal Y Chia 1 collaboration
Kenneth Lay 1 collaboration
Nur Ain Ali 1 collaboration
Austin Larson 1 collaboration
Fuad Al Mutairi 1 collaboration
Nouriya Abbas Al-Sannaa 1 collaboration
Eissa Ali Faqeih 1 collaboration
Majid Alfadhel 1 collaboration
Huma Arshad Cheema 1 collaboration
Juliette Dupont 1 collaboration
Stéphane Bézieau 1 collaboration
Dorrain Yanwen Low 1 collaboration
Yulan Wang 1 collaboration
Grace Tan 1 collaboration
Poh San Lai 1 collaboration
Hugues Piloquet 1 collaboration
Madeleine Joubert 1 collaboration
Hulya Kayserili 1 collaboration
Kimberly A Kripps 1 collaboration
Shareef A Nahas 1 collaboration
Eric P Wartchow 1 collaboration
Mikako Warren 1 collaboration
Majed Dasouki 1 collaboration
Renata Sandoval 1 collaboration
Elisa Carvalho 1 collaboration
Luiza Ramos 1 collaboration
Gilda Porta 1 collaboration
Bin Wu 1 collaboration
Badr AlSaleem 1 collaboration
Raeda M BaAbbad 1 collaboration
Anabela Natália Abreu Ferrão 1 collaboration
Vasiliki Karageorgou 1 collaboration
Natalia Ordonez-Herrera 1 collaboration
Suliman Khan 1 collaboration
Benjamin Cogne 1 collaboration
Aida M Bertoli-Avella 1 collaboration
Marie Vincent 1 collaboration
Bruno Reversade 1 collaboration
Subrahmanya Vasishta 1 collaboration
Akkatai S Teli 1 collaboration
Akhila Vasudeva 1 collaboration
Fathiya Al-Murshedi 1 collaboration
Amna Al-Futaisi 1 collaboration
Ahmed Mansy 1 collaboration
Asila Al-Habsi 1 collaboration
Elizabeth A Werren 1 collaboration
Geneva R LaForce 1 collaboration
Anshika Srivastava 1 collaboration
Delia R Perillo 1 collaboration
Shaokun Li 1 collaboration
Katherine Johnson 1 collaboration
Safa Baris 1 collaboration
Brandon Berger 1 collaboration
Samantha L Regan 1 collaboration
Christian D Pfennig 1 collaboration
Sonja de Munnik 1 collaboration
Raúl Jimenez-Heredia 1 collaboration
Elif Karakoc-Aydiner 1 collaboration
Ahmet Ozen 1 collaboration
Jasmin Dmytrus 1 collaboration
Ana Krolo 1 collaboration
Ken Corning 1 collaboration
E J Prijoles 1 collaboration
Raymond J Louie 1 collaboration
Robert Roger Lebel 1 collaboration
Thuy-Linh Le 1 collaboration
Kaan Boztug 1 collaboration
Ashleigh E Schaffer 1 collaboration
Chakshu Chaudhry 1 collaboration
Sandesh Salvankar 1 collaboration
Maya Chopra 1 collaboration
Meriel McEntagart 1 collaboration
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