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• 2020

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

  Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-04-2020, In: American Journal of Medical Genetics, Part A.

  Research output: Contribution to journal › Article › peer-review

  • Type 1 Pena Shokeir syndrome
  • Congenital Myasthenic Syndromes
  • Population Biological Variation

• Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families

  Radhakrishnan, P., Jacob, P., Nayak, S. S., Gowrishankar, K., Prakash Soni, J., Shukla, A. & Girisha, K. M., 01-07-2020, In: Clinical Dysmorphology. 29, 3, p. 123-126 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Primary Hypertrophic Osteoarthropathy
  • Exome
  • 15-hydroxyprostaglandin dehydrogenase
  • Prostaglandins
  • Mutation

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

  University of Washington Center for Mendelian Genomics, 06-08-2020, In: American Journal of Human Genetics. 107, 2, p. 293-310 18 p.

  Research output: Contribution to journal › Article › peer-review

  • Arthrogryposis
  • Mutation
  • Skeletal Muscle
  • Myosins
  • Contracture
  2 Citations (Scopus)

• Response to Hall et al

  University of Washington Center for Mendelian Genomics, 03-12-2020, In: American Journal of Human Genetics. 107, 6, p. 1188-1189 2 p.

  Research output: Contribution to journal › Letter › peer-review

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

  Schneeberger, P. E., Nayak, S. S., Fuchs, S., Kutsche, K. & Girisha, K. M., 01-11-2020, In: American Journal of Medical Genetics, Part A.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ramer Ladda syndrome
  • Roberts Syndrome
  • Contracture
  • Elbow
  • Ectromelia
• 2019

  Cornelia de Lange syndrome in diverse populations

  Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V. H. W., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P. & 45 others, Uwineza, A., Mutesa, L., Tekendo-Ngongang, C., Wonkam, A., Fieggen, K., Batista, L. C., Moretti-Ferreira, D., Stevenson, R. E., Prijoles, E. J., Everman, D., Clarkson, K., Worthington, J., Kimonis, V., Hisama, F., Crowe, C., Wong, P., Johnson, K., Clark, R. D., Bird, L., Masser-Frye, D., McDonald, M., Willems, P., Roeder, E., Saitta, S., Anyane-Yeoba, K., Demmer, L., Hamajima, N., Stark, Z., Gillies, G., Hudgins, L., Dave, U., Shalev, S., Siu, V., Ades, A., Dubbs, H., Raible, S., Kaur, M., Salzano, E., Jackson, L., Deardorff, M., Kline, A., Summar, M., Muenke, M., Linguraru, M. G. & Krantz, I. D., 01-02-2019, In: American Journal of Medical Genetics, Part A. 179, 2, p. 150-158 9 p.

  Research output: Contribution to journal › Article › peer-review

  • De Lange Syndrome
  • Lip
  • Population
  • Technology
  • Nose
  11 Citations (Scopus)

• Meckel syndrome: Clinical and mutation profile in six fetuses

  Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A. & Girisha, K. M., 01-12-2019, In: Clinical Genetics.

  Research output: Contribution to journal › Article › peer-review

  • Meckel syndrome type 1
  • Fetus
  • Mutation
  • Polydactyly
  • Nervous System Malformations
  2 Citations (Scopus)

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

  Radhakrishnan, P., Moirangthem, A., Nayak, S. S., Shukla, A., Mathew, M. & Girisha, K. M., 01-01-2019, In: Clinical Dysmorphology. 28, 1, p. 17-21 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Type 1 Pena Shokeir syndrome
  • Glycogen Storage Disease Type IV
  • Glycogen Storage Disease
  • Fetus
  • Exome
• 2018

  Erratum to: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 (Nature, (2018), 557, 7706, (564-569), 10.1038/s41586-018-0118-y)

  Szenker-Ravi, E., Altunoglu, U., Leushacke, M., Bosso-Lefèvre, C., Khatoo, M., Thi Tran, H., Naert, T., Noelanders, R., Hajamohideen, A., Beneteau, C., de Sousa, S. B., Karaman, B., Latypova, X., Başaran, S., Yücel, E. B., Tan, T. T., Vlaminck, L., Nayak, S. S., Shukla, A., Girisha, K. M. & 7 others, Le Caignec, C., Soshnikova, N., Uyguner, Z. O., Vleminckx, K., Barker, N., Kayserili, H. & Reversade, B., 13-09-2018, In: Nature. 561, 7722, p. E7

  Research output: Contribution to journal › Comment/debate › peer-review

  • Medical Genetics
  • Belgium
  • Extremities
  1 Citation (Scopus)

• Facial profile and additional features in fetuses with trisomy 21

  Radhakrishnan, P., Nayak, S. S., Shukla, A. & Girisha, K. M., 01-10-2018, In: Clinical Dysmorphology. 27, 4, p. 126-129 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Down Syndrome
  • Fetus
  • Audiovisual Aids
  • Aneuploidy
  • Pregnancy

• Influence of isometric exercise on pressure pain sensitivity in knee osteoarthritis

  Neelapala, Y. V. R., Nayak, S., Sivalanka, S., Cornelio, R. & Prajapati, M., 2018, In: Journal of Pain Management. 11, 4, p. 361-367 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Knee Osteoarthritis
  • Exercise
  • Pressure
  • Pain
  • Control Groups
  2 Citations (Scopus)

• RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

  Szenker-Ravi, E., Altunoglu, U., Leushacke, M., Bosso-Lefèvre, C., Khatoo, M., Thi Tran, H., Naert, T., Noelanders, R., Hajamohideen, A., Beneteau, C., De Sousa, S. B., Karaman, B., Latypova, X., Başaran, S., Yücel, E. B., Tan, T. T., Vlaminck, L., Nayak, S. S., Shukla, A., Girisha, K. M. & 7 others, Le Caignec, C., Soshnikova, N., Uyguner, Z. O., Vleminckx, K., Barker, N., Kayserili, H. & Reversade, B., 24-05-2018, In: Nature. 557, 7706, p. 564-569 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Extremities
  • Tetra-amelia autosomal recessive
  • Regenerative Medicine
  • Ligases
  • Xenopus
  47 Citations (Scopus)
• 2017

  Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1

  Nayak, S. S., Salian, S., Shukla, A., Mathew, M. & Girisha, K. M., 01-05-2017, In: Congenital Anomalies. 57, 3, p. 83-85 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Fraser Syndrome
  • Fetus
  • Mutation
  • Brachydactyly
  • Oligohydramnios
  3 Citations (Scopus)
• 2016

  Congenital high airway obstruction syndrome presenting as nonimmune hydrops in a 19-week fetus

  Mundkur, A., Nayak, S. S., Vasudeva, A., Katta, G. M. & Kumar, P., 01-09-2016, In: International Journal of Infertility and Fetal Medicine. 7, 3, p. 99-102 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Airway Obstruction
  • Edema
  • Fetus
  • Hydrops Fetalis
  • Pregnancy

• Congenital omphalocele and cleft palate in two fetuses

  Upadhyay, N., Pai, M. V., Nayak, S. S., Girisha, K. M. & Shukla, A., 01-07-2016, In: Congenital Anomalies. 56, 4, p. 190-191 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review

• Spectrum of urorectal septum malformation sequence

  Shah, K., Nayak, S. S., Shukla, A. & Girisha, K. M., 01-05-2016, In: Congenital Anomalies. 56, 3, p. 119-126 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Fetus
  • Genitalia
  • Gastrointestinal Tract
  • Sacral defect and anterior sacral meningocele
  • Kidney
  4 Citations (Scopus)

• What does fetal autopsy unmask in oligohydramnios?

  Nayak, S. S., Shukla, A., Kodandapani, S., Adiga, P. K. & Girisha, K. M., 17-07-2016, In: Journal of Maternal-Fetal and Neonatal Medicine. 29, 14, p. 2347-2351 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Oligohydramnios
  • Autopsy
  • Fetus
  • Amniotic Fluid
  • Fetal Growth Retardation
  1 Citation (Scopus)
• 2014

  Fetal akinesia deformation sequence: Expanding the phenotypic spectrum

  Nayak, S. S., Kadavigere, R., Mathew, M., Kumar, P., Hall, J. G. & Girisha, K. M., 2014, In: American Journal of Medical Genetics, Part A. 164, 10, p. 2643-2648 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Type 1 Pena Shokeir syndrome
  • Fetus
  • Micrognathism
  • Clubfoot
  • Pterygium
  7 Citations (Scopus)
• 2013

  Jejunal atresia and postaxial polydactyly: A newly recognized phenotype

  Girisha, K. M., Nayak, S. S., Rawal, A., Roopa, P. S. & Shetty, J., 07-2013, In: Clinical Dysmorphology. 22, 3, p. 121-123 3 p.

  Research output: Contribution to journal › Comment/debate › peer-review
  3 Citations (Scopus)

• Prenatal diagnosis of absent pulmonary valve confirmed by autopsy

  Vivek, G., Shetty, R. K., Nayak, S. S., Girisha, K. M. & Naha, K., 2013, In: BMJ Case Reports. 007997.

  Research output: Contribution to journal › Article › peer-review

  • Pulmonary Valve
  • Prenatal Diagnosis
  • Autopsy
  • Pulmonary Artery
  • Pulmonary Valve Stenosis
  1 Citation (Scopus)
• 2012

  Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder

  Nayak, S. S., Adiga, P. K., Rai, L. & Girisha, K. M., 2012, In: Genetic counseling (Geneva, Switzerland). 23, 4, p. 487-491 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Rhizomelic Chondrodysplasia Punctata
  • Connective Tissue
  • Nose
  • Fetus
  • Tarsal Bones
  4 Citations (Scopus)