Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

Autor: Bijarnia-Mahay S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Bijarnia@gmail.com., Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kulshrestha S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Ramprasad VL; Medgenome Laboratories Ltd, Bengaluru, Karnataka, India., Murugan S; Medgenome Laboratories Ltd, Bengaluru, Karnataka, India., Sud S; Department of MRI, Sir Ganga Ram Hospital, New Delhi, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.

Publikováno v: Journal of human genetics [J Hum Genet] 2022 Mar; Vol. 67 (3), pp. 133-136. Date of Electronic Publication: 2021 Oct 08.

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Autor: Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Udyawar D; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Sharma S; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India., Suresh N; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India., do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Ramesh Bhat Y; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shrikiran A; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Dec; Vol. 29 (12), pp. 1774-1780. Date of Electronic Publication: 2021 Jul 19.

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

Autor: Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Stephen J; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Guleria VS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kadavigere R; Department of Radiodiagnosis and Imaging, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bielas S; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA., Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

Publikováno v: Clinical genetics [Clin Genet] 2021 Apr; Vol. 99 (4), pp. 594-600. Date of Electronic Publication: 2021 Jan 28.

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

Autor: Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India. Electronic address: girish.katta@manipal.edu.

Publikováno v: Gene [Gene] 2020 Mar 01; Vol. 729, pp. 144229. Date of Electronic Publication: 2019 Nov 07.

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

Autor: Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., McClellan R; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland., Vernon HJ; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2019 May; Vol. 179 (5), pp. 870-874. Date of Electronic Publication: 2019 Apr 02.