Girisha M Katta

2023

A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies

Nampoothiri, S., Dsouza, J. M., Yesodharan, D., Girisha, K. M., Eapen, M., Sivasankaran Nair, S., Pillai, B. V. & Radhakrishnan, P., 03-2023, In: Clinical Genetics. 103, 3, p. 369 - 370 2 p.

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

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

Shravya, M. S., Mathew, M., Vasudeva, A., Girisha, K. M. & Nayak, S. S., 01-2023, In: Clinical Genetics. 103, 1, p. 127-129 3 p.

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

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

Nayak, S. S., Harkness, R., Shukla, A., Banka, S., Newman, W. G. & Girisha, K. M., 03-2023, In: American Journal of Medical Genetics, Part A. 191, 3, p. 730 - 741 12 p.

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

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

Udupa, P., Shrikondawar, A. N., Nayak, S. S., Shah, H., Ranjan, A., Girisha, K. M., Bhavani, G. S. L. & Ghosh, D. K., 08-2023, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1869, 6, 166741.

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

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

Vasishta, S., Teli, A. S., Vasudeva, A., Girisha, K. M. & Nayak, S. S., 2023, (Accepted/In press) In: Prenatal Diagnosis.

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

Exome Sequencing in Monogenic Forms of Rickets

Jacob, P., Bhavani, G. S. L., Udupa, P., Wang, Z., Hariharan, S. V., Delampady, K., Dalal, A., Kamath, N., Ikegawa, S., Shenoy, R. D., Handattu, K., Shah, H. & Girisha, K. M., 2023, (Accepted/In press) In: Indian Journal of Pediatrics.

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

Open Access

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

Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G. S. L., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K. M., Li, Y., Wollnik, B. & Yigit, G., 04-2023, In: Human Genetics. 142, 4, p. 543-552 10 p.

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

Open Access

Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX

Ghosh, D. K., Udupa, P., Shrikondawar, A. N., Bhavani, G. S. L., Shah, H., Ranjan, A. & Girisha, K. M., 01-2023, In: Matrix Biology. 115, p. 81-106 26 p.

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

Open Access

1 Citation (Scopus)

Nosology of genetic skeletal disorders: 2023 revision

Unger, S., Ferreira, C. R., Mortier, G. R., Ali, H., Bertola, D. R., Calder, A., Cohn, D. H., Cormier-Daire, V., Girisha, K. M., Hall, C., Krakow, D., Makitie, O., Mundlos, S., Nishimura, G., Robertson, S. P., Savarirayan, R., Sillence, D., Simon, M., Sutton, V. R., Warman, M. L., & 1 othersSuperti-Furga, A., 05-2023, In: American Journal of Medical Genetics, Part A. 191, 5, p. 1164-1209 46 p.

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

Open Access

8 Citations (Scopus)

Perspectives on the future of dysmorphology

Solomon, B. D., Adam, M. P., Fong, C. T., Girisha, K. M., Hall, J. G., Hurst, A. C. E., Krawitz, P. M., Moosa, S., Phadke, S. R., Tekendo-Ngongang, C. & Wenger, T. L., 03-2023, In: American Journal of Medical Genetics, Part A. 191, 3, p. 659-671 13 p.

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

2 Citations (Scopus)

2022

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

Holling, T., Bhavani, G. S., von Elsner, L., Shah, H., Kausthubham, N., Bhattacharyya, S. S., Shukla, A., Mortier, G. R., Schinke, T., Danyukova, T., Pohl, S., Kutsche, K. & Girisha, K. M., 05-2022, In: Human Mutation. 43, 5, p. 625-642 18 p.

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

Open Access

2 Citations (Scopus)

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

Vona, B., Schwartzbaum, D. A., Rodriguez, A. A., Lewis, S. S., Toosi, M. B., Radhakrishnan, P., Bozan, N., Akın, R., Doosti, M., Manju, R., Duman, D., Sineni, C. J., Nampoothiri, S., Karimiani, E. G., Houlden, H., Bademci, G., Tekin, M., Girisha, K. M., Maroofian, R. & Douzgou, S., 09-2022, In: Journal of the European Academy of Dermatology and Venereology. 36, 9, p. 1606-1611 6 p.

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

Open Access

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

Simsek-Kiper, P. O., Jacob, P., Upadhyai, P., Taşkıran, Z. E., Guleria, V. S., Karaosmanoglu, B., Imren, G., Gocmen, R., Bhavani, G. S., Kausthubham, N., Shah, H., Utine, G. E., Boduroglu, K. & Girisha, K. M., 12-2022, In: Human Mutation. 43, 12, p. 2116-2129 14 p.

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

Open Access

1 Citation (Scopus)

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

Klöckner, C., Fernández-Murray, J. P., Tavasoli, M., Sticht, H., Stoltenburg-Didinger, G., Scholle, L. M., Bakhtiari, S., Kruer, M. C., Darvish, H., Firouzabadi, S. G., Pagnozzi, A., Shukla, A., Girisha, K. M., Narayanan, D. L., Kaur, P., Maroofian, R., Zaki, M. S., Noureldeen, M. M., Merkenschlager, A., Gburek-Augustat, J., & 9 othersCali, E., Banu, S., Nahar, K., Efthymiou, S., Houlden, H., Jamra, R. A., Williams, J., McMaster, C. R. & Platzer, K., 01-06-2022, In: Brain. 145, 6, p. 1916-1923 8 p.

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

1 Citation (Scopus)

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

Salian, S., Guo, X. Y., Murakami, Y., Kinoshita, T., Kaur, P., Shukla, A., Girisha, K. M., Fujita, M. & Campeau, P. M., 08-2022, In: Human Genetics. 141, 8, p. 1423-1429 7 p.

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

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

Varshney, K., Narayanachar, S. G., Girisha, K. M., Bhavani, G. S. L., Narayanan, D., Phadke, S., Nampoothiri, S., Udupi, G. A., Raghupathy, P., Nair, M., Geetha, T. S. & Bhat, M., 2022, (Accepted/In press) In: Journal of Medical Genetics. 108098.

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

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

Juneja, M., Gupta, A., Sairam, S., Jain, R., Sharma, M., Thadani, A., Srinivasan, R., Lingappa, L., Ahmed, S., Multani, K. S., Buch, P., Chatterjee, N., Dalwai, S., Kabra, M., Kapoor, S., Patel, P. K., Girisha, K. M., Kulkarni, M., Kunju, P. A. M., Malhi, P., & 10 othersMeenai, Z., Mishra, D., Mundkur, N., Nair, M. K. C., Oommen, S. P., Prasad, C., Singh, A., Srivastava, L., Suman, P. & Thakur, R., 15-05-2022, In: Indian Pediatrics. 59, 5, p. 401-415 15 p.

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

3 Citations (Scopus)

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India

Chaudhary, A. K., Gholse, A., Nagarajaram, H. A., Dalal, A. B., Gupta, N., Dutta, A. K., Danda, S., Gupta, R., Sankar, H. V., Bhavani, G. S. L., Girisha, K. M., Phadke, S. R., Ranganath, P. & Bashyam, M. D., 03-2022, In: American Journal of Medical Genetics, Part A. 188, 3, p. 788 - 805

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

2 Citations (Scopus)

Erratum: PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families (Genet Med (2021) 23(2415-2425))(s41436021012966)(10.1038/s41436-021-01296-6))

Guimier, A., Achleitner, M. T., Moreau de Bellaing, A., Edwards, M., de Pontual, L., Mittal, K., Dunn, K. E., Grove, M. E., Tysoe, C. J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., van den Broek, F., Chatterjee, D., Alston, C. L., Knowles, C. V., Brett, L., Till, J. A., Homfray, T., & 40 othersFrench, P., Spentzou, G., Elserafy, N. A., Lichkus, K. S., Sankaran, B. P., Kennedy, H. L., George, P. M., Kidd, A., Wortmann, S. B., Fisk, D. G., Koopmann, T. T., Rafiq, M. A., Merker, J. D., Parikh, S., Ahimaz, P., Weintraub, R. G., Ma, A. S., Turner, C., Ellaway, C. J., Phillips, L. K., Thorburn, D. R., Chung, W. K., Kana, S. L., Faye-Petersen, O. M., Thompson, M. L., Janin, A., McLeod, K., McGowan, R., McFarland, R., Girisha, K. M., Morris-Rosendahl, D. J., Hurst, A. C. E., Turner, C. L. S., Hamilton, R. M., Taylor, R. W., Bajolle, F., Gordon, C. T., Amiel, J., Mayr, J. A. & Doudney, K., 01-04-2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 4, p. 967 1 p.

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

Open Access

1 Citation (Scopus)

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

Altunoglu, U., Börklü, E., Shukla, A., Escande-Beillard, N., Ledig, S., Azaklı, H., Nayak, S. S., Eraslan, S., Girisha, K. M., Kennerknecht, I. & Kayserili, H., 02-2022, In: Clinical Genetics. 101, 2, p. 221-232 12 p.

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

2 Citations (Scopus)

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

Udupa, P., Ghosh, D. K., Kausthubham, N., Shah, H., Bartakke, S., Dalal, A., Girisha, K. M. & Bhavani, G. S. L., 2022, (Accepted/In press) In: Journal of Human Genetics.

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

Open Access

1 Citation (Scopus)

Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination

do Rosario, M. C., Kaur, P., Girisha, K. M., Bielas, S. & Shukla, A., 01-10-2022, In: Clinical Dysmorphology. 31, 4, p. 196-200 5 p.

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

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

Moreno Traspas, R., Teoh, T. S., Wong, P. M., Maier, M., Chia, C. Y., Lay, K., Ali, N. A., Larson, A., Al Mutairi, F., Al-Sannaa, N. A., Faqeih, E. A., Alfadhel, M., Cheema, H. A., Dupont, J., Bézieau, S., Isidor, B., Low, D. Y., Wang, Y., Tan, G., Lai, P. S., & 27 othersPiloquet, H., Joubert, M., Kayserili, H., Kripps, K. A., Nahas, S. A., Wartchow, E. P., Warren, M., Bhavani, G. S. L., Dasouki, M., Sandoval, R., Carvalho, E., Ramos, L., Porta, G., Wu, B., Lashkari, H. P., AlSaleem, B., BaAbbad, R. M., Abreu Ferrão, A. N., Karageorgou, V., Ordonez-Herrera, N., Khan, S., Bauer, P., Cogne, B., Bertoli-Avella, A. M., Vincent, M., Girisha, K. M. & Reversade, B., 08-2022, In: Nature Genetics. 54, 8, p. 1214-1226 13 p.

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

1 Citation (Scopus)

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

Holling, T., Nampoothiri, S., Tarhan, B., Schneeberger, P. E., Vinayan, K. P., Yesodharan, D., Roy, A. G., Radhakrishnan, P., Alawi, M., Rhodes, L., Girisha, K. M., Kang, P. B. & Kutsche, K., 04-2022, In: European Journal of Human Genetics. 30, 4, p. 439-449 11 p.

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

Open Access

2 Citations (Scopus)

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

Verheyen, S., Blatterer, J., Speicher, M. R., Bhavani, G. S. L., Boons, G. J., Ilse, M. B., Andrae, D., Sproß, J., Vaz, F. M., Kircher, S. G., Posch-Pertl, L., Baumgartner, D., Lübke, T., Shah, H., Al Kaissi, A., Girisha, K. M. & Plecko, B., 01-10-2022, In: Journal of Medical Genetics. 59, 10, p. 957-964 8 p.

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

Open Access

14 Citations (Scopus)

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients

Jacob, P., Bhavani, G. S. L., Shah, H., Galada, C., Nampoothiri, S., Kamath, N., Phadke, S. R., Muranjan, M., Datar, C. A., Shukla, A. & Girisha, K. M., 03-2022, In: American Journal of Medical Genetics, Part A. 188, 3, p. 751-759 9 p.

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

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

University of Washington Center for Mendelian Genomics (UW-CMG) & Genomics England Research Consortium, 06-2022, In: Genetics in Medicine. 24, 6, p. 1261-1273 13 p.

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

Open Access

5 Citations (Scopus)

Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles

Girisha, K. M., Jacob, P., SriLakshmi Bhavani, G., Shah, H. & Mortier, G. R., 06-2022, In: European Journal of Medical Genetics. 65, 6, p. 104521 104521.

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

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

Ghosh, D. K., Pande, S., Kumar, J., Yesodharan, D., Nampoothiri, S., Radhakrishnan, P., Reddy, C. G., Ranjan, A. & Girisha, K. M., 2022, (Accepted/In press) In: Aging Cell.

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

Open Access

5 Citations (Scopus)

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy

do Rosario, M. C., Bey, G. R., Nmezi, B., Liu, F., Oranburg, T., Cohen, A. S. A., Coffman, K. A., Brown, M. R., Kiselyov, K., Waisfisz, Q., Flohil, M. T., Siddiqui, S., Rosenfeld, J. A., Iglesias, A., Girisha, K. M., Wolf, N. I., Padiath, Q. S. & Shukla, A., 19-12-2022, In: Brain : a journal of neurology. 145, 12, p. 4202-4209 8 p.

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

1 Citation (Scopus)

2021

A celebration in honor of John M. Graham, Jr, MD, ScD

D'Cunha Burkardt, D., Sanchez-Lara, P. A., Girisha, K. M., Golden, J. A. & Carey, J. C., 01-09-2021, In: American Journal of Medical Genetics, Part A.

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

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians

Kausthubham, N., Shukla, A., Gupta, N., Bhavani, G. S., Kulshrestha, S., Das Bhowmik, A., Moirangthem, A., Bijarnia-Mahay, S., Kabra, M., Puri, R. D., Mandal, K., Verma, I. C., Bielas, S. L., Phadke, S. R., Dalal, A. & Girisha, K. M., 01-04-2021, In: Human Mutation. 42, 4, p. e15-e61

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

Open Access

13 Citations (Scopus)

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

Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W., & 27 othersHaldeman-Englert, C. R., Hall, B. D., Innes, A. M., Kalish, J. M., Keppler-Noreuil, K. M., Kosaki, K., Kozel, B. A., Mirzaa, G. M., Mulvihill, J. J., Nowaczyk, M. J. M., Pagon, R. A., Retterer, K., Rope, A. F., Sanchez-Lara, P. A., Seaver, L. H., Shieh, J. T., Slavotinek, A. M., Sobering, A. K., Stevens, C. A., Stevenson, D. A., Tan, T. Y., Tan, W. H., Tsai, A. C., Weaver, D. D., Williams, M. S., Zackai, E. & Zarate, Y. A., 07-01-2021, In: American Journal of Human Genetics. 108, 1, p. 8-15 8 p.

Research output: Contribution to journal › Review article › peer-review

52 Citations (Scopus)

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

Upadhyai, P., Radhakrishnan, P., Guleria, V. S., Kausthubham, N., Nayak, S. S., Superti-Furga, A. & Girisha, K. M., 08-2021, In: Human Mutation.

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

1 Citation (Scopus)

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

Somashekar, P. H., Kaur, P., Stephen, J., Guleria, V. S., Kadavigere, R., Girisha, K. M., Bielas, S., Upadhyai, P. & Shukla, A., 04-2021, In: Clinical Genetics. 99, 4, p. 594-600 7 p.

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

6 Citations (Scopus)

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

Sheikh, T. I., Vasli, N., Pastore, S., Kharizi, K., Harripaul, R., Fattahi, Z., Pande, S., Naeem, F., Hussain, A., Mir, A., Islam, O., Girisha, K. M., Irfan, M., Ayub, M., Schwarzer, C., Najmabadi, H., Shukla, A., Sladky, V. C., Braun, V. Z., Garcia-Carpio, I., & 2 othersVillunger, A. & Vincent, J. B., 06-2021, In: Translational Psychiatry. 11, 1, 1.

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

Open Access

9 Citations (Scopus)

Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia

Majethia, P., Somashekar, P. H., Hebbar, M., Kadavigere, R., Praveen, B. K., Girisha, K. M. & Shukla, A., 08-2021, In: Clinical Genetics. 100, 2, p. 201-205 5 p.

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

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

Ziegler, A., Duclaux-Loras, R., Revenu, C., Charbit-Henrion, F., Begue, B., Duroure, K., Grimaud, L., Guihot, A. L., Desquiret-Dumas, V., Zarhrate, M., Cagnard, N., Mas, E., Breton, A., Edouard, T., Billon, C., Frank, M., Colin, E., Lenaers, G., Henrion, D., Lyonnet, S., & 27 othersFaivre, L., Alembik, Y., Philippe, A., Moulin, B., Reinstein, E., Tzur, S., Attali, R., McGillivray, G., White, S. M., Gallacher, L., Kutsche, K., Schneeberger, P., Girisha, K. M., Nayak, S. S., Pais, L., Maroofian, R., Rad, A., Vona, B., Karimiani, E. G., Lekszas, C., Haaf, T., Martin, L., Ruemmele, F., Bonneau, D., Cerf-Bensussan, N., Del Bene, F. & Parlato, M., 03-06-2021, In: American Journal of Human Genetics. 108, 6, p. 1126-1137 12 p.

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

Open Access

6 Citations (Scopus)

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Kaur, P., do Rosario, M. C., Hebbar, M., Sharma, S., Kausthubham, N., Nair, K., Shrikiran, A., Bhat Y, R., Lewis, L. E. S., Nampoothiri, S., Patil, S. J., Suresh, N., Bijarnia Mahay, S., Dua Puri, R., Pai, S., Kaur, A., Rakshith, K. C., Kamath, N., Bajaj, S., Kumble, A., & 12 othersShetty, R., Shenoy, R., Kamate, M., Shah, H., Muranjan, M. N., Yatheesha, B. L., Avabratha, K. S., Subramaniam, G., Kadavigere, R., Bielas, S., Girisha, K. M. & Shukla, A., 11-2021, In: Clinical Genetics. 100, 5, p. 542-550 9 p.

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

6 Citations (Scopus)

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

Lashkari, H. P., Madkaikar, M., Dalvi, A., Gupta, M., Bustamante, J., Sharma, M., Rawat, A., Bhatia, P., Bhat, K. G., Rao, S., Kamath, N., Moideen, F., Latour, S., Winter, S., Bhavani, G. S. L. & Girisha, K. M., 2021, In: Indian Journal of Pediatrics. 89, 3, p. 233-242 10 p.

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

Open Access

2 Citations (Scopus)

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

Nayak, S. S., Schneeberger, P. E., Patil, S. J., Arun, K. M., Suresh, P. V., Kiran, V. S., Siddaiah, S., Maiya, S., Venkatachalagupta, S. K., Kausthubham, N., Kortüm, F., Rau, I., Wey-Fabrizius, A., Van Den Heuvel, L., Meester, J., Van Laer, L., Shukla, A., Loeys, B., Girisha, K. M. & Kutsche, K., 12-2021, In: Scientific Reports. 11, 1, 764.

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

Open Access

3 Citations (Scopus)

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Guo, L., Iida, A., Bhavani, G. S. L., Gowrishankar, K., Wang, Z., Xue, J. Y., Wang, J., Miyake, N., Matsumoto, N., Hasegawa, T., Iizuka, Y., Matsuda, M., Nakashima, T., Takechi, M., Iseki, S., Yambe, S., Nishimura, G., Koseki, H., Shukunami, C., Girisha, K. M., & 1 othersIkegawa, S., 12-2021, In: Nature Communications. 12, 1, 2046.

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

Open Access

1 Citation (Scopus)

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

Mishra, S., Girisha, K. M. & Shukla, A., 01-01-2021, In: Clinical Dysmorphology. 30, 1, p. 1-5 5 p.

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

1 Citation (Scopus)

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

Deshpande, D., Gupta, S. K., Sarma, A. S., Ranganath, P., Jain S., J. M. N., Sheth, J., Mistri, M., Gupta, N., Kabra, M., Phadke, S. R., Girisha, K. M., Dua Puri, R., Aggarwal, S., Datar, C., Mandal, K., Tilak, P., Muranjan, M., Bijarnia-Mahay, S., Rama Devi A., R., Tayade, N. B., & 2 othersRanjan, A. & Dalal, A. B., 10-2021, In: Human Mutation. 42, 10, p. 1336 - 1350

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

4 Citations (Scopus)

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

Shukla, A., Kaur, P., Narayanan, D. L., do Rosario, M. C., Kadavigere, R. & Girisha, K. M., 01-01-2021, In: Clinical Genetics. 99, 1, p. 119-132 14 p.

Research output: Contribution to journal › Review article › peer-review

5 Citations (Scopus)

Genome sequencing in families with congenital limb malformations

Elsner, J., Mensah, M. A., Holtgrewe, M., Hertzberg, J., Bigoni, S., Busche, A., Coutelier, M., de Silva, D. C., Elçioglu, N., Filges, I., Gerkes, E., Girisha, K. M., Graul-Neumann, L., Jamsheer, A., Krawitz, P., Kurth, I., Markus, S., Megarbane, A., Reis, A., Reuter, M. S., & 12 othersSvoboda, D., Teller, C., Tuysuz, B., Türkmen, S., Wilson, M., Woitschach, R., Vater, I., Caliebe, A., Hülsemann, W., Horn, D., Mundlos, S. & Spielmann, M., 08-2021, In: Human Genetics. 140, 8, p. 1229 - 1239 11 p.

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

Open Access

6 Citations (Scopus)

Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome

Pande, S., Radhakrishnan, P., Shetty, N. M., Shukla, A. & Girisha, K. M., 09-2021, In: American Journal of Medical Genetics, Part A. 185, 9, p. 2756-2765 10 p.

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

2 Citations (Scopus)

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

CAUSES Study & Genomics England Research Consortium, 03-06-2021, In: American Journal of Human Genetics. 108, 6, p. 1138-1150 13 p.

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

7 Citations (Scopus)

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

Hammarsjö, A., Pettersson, M., Chitayat, D., Handa, A., Anderlid, B. M., Bartocci, M., Basel, D., Batkovskyte, D., Beleza-Meireles, A., Conner, P., Eisfeldt, J., Girisha, K. M., Chung, B. H. Y., Horemuzova, E., Hyodo, H., Korņejeva, L., Lagerstedt-Robinson, K., Lin, A. E., Magnusson, M., Moosa, S., & 13 othersNayak, S. S., Nilsson, D., Ohashi, H., Ohashi-Fukuda, N., Stranneheim, H., Taylan, F., Traberg, R., Voss, U., Wirta, V., Nordgren, A., Nishimura, G., Lindstrand, A. & Grigelioniene, G., 10-2021, In: Journal of Human Genetics. 66, 10, p. 995 - 1008 14 p.

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

Open Access

11 Citations (Scopus)

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

Puri, R. D., Setia, N., N, V., Jagadeesh, S., Nampoothiri, S., Gupta, N., Muranjan, M., Bhat, M., Girisha, K. M., Kabra, M., Verma, J., Thomas, D. C., Biji, I., Raja, J., Makkar, R., Verma, I. C. & Kishnani, P. S., 05-2021, In: Neuromuscular Disorders. 31, 5, p. 431 - 441

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

2 Citations (Scopus)

Girisha M Katta

Research output

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