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Items: 1 to 50 of 158

1.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F.

BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1.

PMID:
30764785
2.

Cornelia de Lange syndrome in diverse populations.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, 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 MG, Krantz ID.

Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.

PMID:
30614194
3.

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

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.

PMID:
30576410
4.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.

PMID:
30526868
5.

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

Rai MK, Pai R, Prabhu MA, Pasha SW, Kedambadi RC, Kamath P, Augustine AJ, Bhavani GS, Girisha KM.

Pacing Clin Electrophysiol. 2019 Feb;42(2):201-207. doi: 10.1111/pace.13569. Epub 2018 Dec 19.

PMID:
30516834
6.

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

Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.

Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.

PMID:
30488656
7.

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Uttarilli A, Shah H, Bhavani GS, Upadhyai P, Shukla A, Girisha KM.

Bone. 2019 Mar;120:204-211. doi: 10.1016/j.bone.2018.10.026. Epub 2018 Nov 6.

PMID:
30408610
8.

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A.

Clin Genet. 2018 Nov 5. doi: 10.1111/cge.13468. [Epub ahead of print]

PMID:
30394532
9.

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM.

J Hum Genet. 2019 Jan;64(1):17-21. doi: 10.1038/s10038-018-0523-y. Epub 2018 Oct 18.

PMID:
30337681
10.

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 SS, Shukla A, Mathew M, Girisha KM.

Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248.

PMID:
30303820
11.

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS.

Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0140-3. [Epub ahead of print]

PMID:
30214071
12.

Introducing in AJMG Part A: Case reports in diverse populations.

Girisha KM, Wonkam A, Muenke M.

Am J Med Genet A. 2018 Jul;176(7):1547-1548. doi: 10.1002/ajmg.a.40353. No abstract available.

PMID:
30160834
13.

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

Kanthi A, Hebbar M, Bielas SL, Girisha KM, Shukla A.

Eur J Med Genet. 2018 Aug 22. pii: S1769-7212(18)30278-7. doi: 10.1016/j.ejmg.2018.08.009. [Epub ahead of print]

PMID:
30142437
14.

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1.

Shukla A, Kaur P, Girisha KM.

J Pediatr Genet. 2018 Sep;7(3):130-133. doi: 10.1055/s-0038-1641177. Epub 2018 Apr 5.

PMID:
30105122
15.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A.

BMC Med Genet. 2018 Aug 8;19(1):140. doi: 10.1186/s12881-018-0655-0.

16.

Report of second case and clinical and molecular characterization of Eiken syndrome.

Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM.

Clin Genet. 2018 Nov;94(5):457-460. doi: 10.1111/cge.13413. Epub 2018 Jul 27.

PMID:
29987841
17.

Facial profile and additional features in fetuses with trisomy 21.

Radhakrishnan P, Nayak SS, Shukla A, Girisha KM.

Clin Dysmorphol. 2018 Oct;27(4):126-129. doi: 10.1097/MCD.0000000000000234.

PMID:
29985174
18.

Author Correction: 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 SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B.

Nature. 2018 Sep;561(7722):E7. doi: 10.1038/s41586-018-0296-7.

PMID:
29977062
19.

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL.

Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5.

PMID:
29976978
20.

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 SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B.

Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Erratum in: Nature. 2018 Sep;561(7722):E7.

PMID:
29769720
21.

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.

Salian S, Nampoothiri S, Shukla A, Girisha KM.

Congenit Anom (Kyoto). 2019 Jan;59(1):26-27. doi: 10.1111/cga.12285. Epub 2018 May 16. No abstract available.

PMID:
29704261
22.

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.

Hebbar M, Kanthi A, Shukla A, Bielas S, Girisha KM.

J Hum Genet. 2018 Jul;63(8):935-939. doi: 10.1038/s10038-018-0462-7. Epub 2018 Apr 25.

23.

A review of skeletal dysplasia research in India.

Uttarilli A, Shah H, Shukla A, Girisha KM.

J Postgrad Med. 2018 Apr-Jun;64(2):98-103. doi: 10.4103/jpgm.JPGM_527_17. Review.

24.

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

Shukla A, Saneto RP, Hebbar M, Mirzaa G, Girisha KM.

Am J Med Genet A. 2018 May;176(5):1232-1237. doi: 10.1002/ajmg.a.38687.

PMID:
29681094
25.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

PMID:
29681090
26.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Salian S, Shukla A, Shah H, Bhat SN, Bhat VR, Nampoothiri S, Shenoy R, Phadke SR, Hariharan SV, Girisha KM.

Clin Genet. 2018 Jul;94(1):159-164. doi: 10.1111/cge.13252. Epub 2018 Apr 14.

PMID:
29566257
27.

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J, Bhavani GS, Shah H, Hecht J, Krüger U, Shukla A, Kornak U, Girisha KM.

Bone. 2018 May;110:368-377. doi: 10.1016/j.bone.2018.02.029. Epub 2018 Feb 27.

PMID:
29499418
28.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.

PMID:
29463858
29.

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.

Shambhavi A, Salian S, Shah H, Nair M, Sharan K, Jin DK, Cho SY, Mathew M, Shukla A, Girisha KM.

J Pediatr Genet. 2018 Mar;7(1):9-13. doi: 10.1055/s-0037-1604100. Epub 2017 Jul 13.

PMID:
29441215
30.

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

Galada C, Hebbar M, Lewis L, Soans S, Kadavigere R, Srivastava A, Bielas S, Girisha KM, Shukla A.

Congenit Anom (Kyoto). 2018 Sep;58(5):181-182. doi: 10.1111/cga.12275. Epub 2018 Feb 20. No abstract available.

PMID:
29405484
31.

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.

Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A.

J Hum Genet. 2018 Jan;63(1):19-25. doi: 10.1038/s10038-017-0363-1. Epub 2017 Nov 16.

PMID:
29215095
32.

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Hebbar M, Kanthi A, Shrikiran A, Patil S, Muranjan M, Francis F, Bhat B V, Girisha KM, Shukla A.

Am J Med Genet A. 2018 Jan;176(1):156-160. doi: 10.1002/ajmg.a.38522. Epub 2017 Nov 17.

PMID:
29150899
33.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

34.

Cover Image, Volume 173A, Number 9, September 2017.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Sep;173(9):i. doi: 10.1002/ajmg.a.38408.

PMID:
28816424
35.

Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

Patil SJ, Somashekar PH, Shukla A, Siddaiah S, Bhat V, Girisha KM, Rao PN.

J Pediatr Genet. 2017 Sep;6(3):198-204. doi: 10.1055/s-0037-1602386. Epub 2017 Apr 24.

36.

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

Radhakrishnan P, Nayak SS, Pai MV, Shukla A, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):194-197. doi: 10.1055/s-0037-1602142. Epub 2017 Apr 10.

37.

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Nampoothiri S, Hebbar M, Roy AG, Kochumon SP, Bielas S, Shukla A, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):191-193. doi: 10.1055/s-0037-1599148. Epub 2017 Mar 7.

38.

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.

Salian S, Shukla A, Nishimura G, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):177-180. doi: 10.1055/s-0037-1599201. Epub 2017 Mar 7.

39.

Noonan syndrome in diverse populations.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27.

40.

The promise of discovering population-specific disease-associated genes in South Asia.

Nakatsuka N, Moorjani P, Rai N, Sarkar B, Tandon A, Patterson N, Bhavani GS, Girisha KM, Mustak MS, Srinivasan S, Kaushik A, Vahab SA, Jagadeesh SM, Satyamoorthy K, Singh L, Reich D, Thangaraj K.

Nat Genet. 2017 Sep;49(9):1403-1407. doi: 10.1038/ng.3917. Epub 2017 Jul 17.

41.

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A.

Eur J Med Genet. 2017 Oct;60(10):533-535. doi: 10.1016/j.ejmg.2017.07.010. Epub 2017 Jul 12.

PMID:
28711739
42.

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

Zhang JF, James F, Shukla A, Girisha KM, Paciorkowski AR.

BMC Res Notes. 2017 Jun 27;10(1):233. doi: 10.1186/s13104-017-2556-2.

43.

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Girisha KM.

J Hum Genet. 2017 Sep;62(9):867. doi: 10.1038/jhg.2017.65. Epub 2017 Jun 15. No abstract available.

PMID:
28615676
44.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.

PMID:
28548707
45.

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

Somashekar PH, Shukla A, Girisha KM.

Ophthalmic Genet. 2017 Dec;38(6):533-536. doi: 10.1080/13816810.2017.1301967. Epub 2017 Apr 7.

PMID:
28388256
46.

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM.

J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.

47.

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Kotabagi S, Shah H, Shukla A, Girisha KM.

Clin Genet. 2017 Sep;92(3):323-326. doi: 10.1111/cge.13006. Epub 2017 Apr 19.

PMID:
28276056
48.

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Salian S, Cho TJ, Phadke SR, Gowrishankar K, Bhavani GS, Shukla A, Jagadeesh S, Kim OH, Nishimura G, Girisha KM.

Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27. Review.

PMID:
28127940
49.

A novel sequence variant in SFRP4 causing Pyle disease.

Galada C, Shah H, Shukla A, Girisha KM.

J Hum Genet. 2017 Apr;62(5):575-576. doi: 10.1038/jhg.2016.166. Epub 2017 Jan 19.

PMID:
28100910
50.

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Kubaski F, Suzuki Y, Orii K, Giugliani R, Church HJ, Mason RW, Dũng VC, Ngoc CT, Yamaguchi S, Kobayashi H, Girisha KM, Fukao T, Orii T, Tomatsu S.

Mol Genet Metab. 2017 Mar;120(3):247-254. doi: 10.1016/j.ymgme.2016.12.010. Epub 2016 Dec 22.

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