Shalini S Nayak

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Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

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

A. Nordgren, D. Chitayat, J. Eisfeldt, 2021, Journal of Human Genetics.

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

K. Girisha, A. Superti-Furga, Neethukrishna Kausthubham, 2021, Human mutation.

Clinical utility of fetal autopsy and its impact on genetic counseling

K. Girisha, A. Shukla, H. Shah, 2015, Prenatal diagnosis.

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

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

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

H. Kayserili, K. Girisha, A. Shukla, 2021, Clinical genetics.

What does fetal autopsy unmask in oligohydramnios?

K. Girisha, A. Shukla, Shalini S Nayak, 2015, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Fetal akinesia deformation sequence: Expanding the phenotypic spectrum

K. Girisha, R. Kadavigere, M. Mathew, 2014, American journal of medical genetics. Part A.

Spectrum of urorectal septum malformation sequence

K. Girisha, A. Shukla, Shalini S Nayak, 2016, Congenital anomalies.

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

K. Girisha, A. Shukla, Shalini S Nayak, 2020, Clinical dysmorphology.

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

K. Girisha, A. Shukla, Shalini S Nayak, 2019, American Journal of Medical Genetics. Part A.

Meckel syndrome: Clinical and mutation profile in six fetuses

A. Lindstrand, K. Girisha, A. Shukla, 2019, Clinical genetics.

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

A. Moirangthem, K. Girisha, A. Shukla, 2019, Clinical dysmorphology.

Prenatal diagnosis of absent pulmonary valve confirmed by autopsy

K. Girisha, K. Naha, R. Shetty, 2013, BMJ Case Reports.

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

F. Kortüm, K. Girisha, A. Shukla, 2021, Scientific Reports.

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

K. Girisha, A. Shukla, S. Salian, 2017, Congenital anomalies.

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

F. Del Bene, T. Haaf, R. Maroofian, 2021, American journal of human genetics.

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

K. Girisha, K. Kutsche, S. Fuchs, 2020, American journal of medical genetics. Part A.

Anomalies associated with single umbilical artery at perinatal autopsy.

K. Girisha, A. Shukla, Shalini S Nayak, 2015, Indian pediatrics.

Symmetrical Terminal Transverse Limb Deficiencies

S. Phadke, Divya Agarwal, K. Girisha, 2015, The Indian Journal of Pediatrics.

Congenital omphalocele and cleft palate in two fetuses

K. Girisha, A. Shukla, Shalini S Nayak, 2016, Congenital anomalies.

Facial profile and additional features in fetuses with trisomy 21

K. Girisha, A. Shukla, Shalini S Nayak, 2018, Clinical Dysmorphology.

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.

K. Girisha, G. Bhavani, A. Ranjan, 2023, Biochimica et biophysica acta. Molecular basis of disease.

Influence of isometric exercise on pressure pain sensitivity in knee osteoarthritis

Shalini S Nayak, Y. Neelapala, Manisha Prajapati, 2018 .

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

D. Nickerson, M. Bamshad, K. Buckingham, 2020, bioRxiv.

Jejunal atresia and postaxial polydactyly: a newly recognized phenotype.

K. Girisha, J. Shetty, Shalini S Nayak, 2013, Clinical dysmorphology.

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

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation

K. Girisha, A. Shukla, Shalini S Nayak, 2017, Journal of Pediatric Genetics.

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

K. Girisha, A. Shukla, S. Nampoothiri, 2024, Clinical Genetics.

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

K. Girisha, A. Shukla, S. Nampoothiri, 2023, European journal of human genetics : EJHG.

Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus.

K. Girisha, A. Vasudeva, R. Kadavigere, 2015, Journal of clinical and diagnostic research : JCDR.

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

K. Girisha, Shalini S Nayak, Mangalore S Shravya, 2023, Clinical dysmorphology.