| Year |
Citation |
Score |
| 2020 |
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, ... ... Shinde DN, et al. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European Journal of Human Genetics : Ejhg. PMID 32483341 DOI: 10.1038/S41431-020-0654-4 |
0.34 |
|
| 2019 |
Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, ... ... Shinde DN, et al. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 31303265 DOI: 10.1016/J.Ajhg.2019.06.007 |
0.401 |
|
| 2019 |
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, ... ... Shinde DN, et al. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. American Journal of Human Genetics. PMID 31104773 DOI: 10.1016/J.Ajhg.2019.04.001 |
0.385 |
|
| 2019 |
Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, ... ... Shinde DN, et al. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney International. PMID 31005274 DOI: 10.1016/J.Kint.2019.01.025 |
0.383 |
|
| 2019 |
Smith ED, Blanco K, Sajan SA, Hunter JM, Shinde DN, Wayburn B, Rossi M, Huang J, Stevens CA, Muss C, Alcaraz W, Hagman KDF, Tang S, Radtke K. A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30894705 DOI: 10.1038/S41436-019-0477-2 |
0.31 |
|
| 2019 |
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, ... ... Shinde DN, et al. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nature Communications. 10: 708. PMID 30755616 DOI: 10.1038/S41467-018-07953-W |
0.463 |
|
| 2018 |
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, ... ... Shinde DN, et al. De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. American Journal of Human Genetics. PMID 30612693 DOI: 10.1016/J.Ajhg.2018.12.008 |
0.365 |
|
| 2018 |
Scheuerle AE, Sweed NT, Timmons CF, Smith ED, Alcaraz WA, Shinde DN. An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. American Journal of Medical Genetics. Part A. PMID 30450763 DOI: 10.1002/Ajmg.A.40633 |
0.483 |
|
| 2018 |
Peng Y, Shinde DN, Alexander Valencia C, Mo JS, Rosenfeld J, Cho MT, Chamberlin A, Li Z, Liu J, Gui B. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Human Molecular Genetics. PMID 29554255 DOI: 10.1093/hmg/ddy072 |
0.337 |
|
| 2018 |
Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. American Journal of Human Genetics. 102: 188-195. PMID 29304374 DOI: 10.1016/J.Ajhg.2017.12.009 |
0.397 |
|
| 2017 |
Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN. De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms. Clinical Genetics. PMID 29251763 DOI: 10.1111/Cge.13198 |
0.351 |
|
| 2017 |
Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sørensen KP, Helbig KL, et al. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. American Journal of Human Genetics. 101: 1013-1020. PMID 29220673 DOI: 10.1016/J.Ajhg.2017.11.004 |
0.338 |
|
| 2017 |
Peng Y, Shinde DN, Valencia AC, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, et al. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Human Molecular Genetics. PMID 29040572 DOI: 10.1093/Hmg/Ddx377 |
0.448 |
|
| 2017 |
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, et al. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. American Journal of Human Genetics. PMID 28942967 DOI: 10.1016/J.Ajhg.2017.08.013 |
0.5 |
|
| 2017 |
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, ... ... Shinde DN, et al. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American Journal of Human Genetics. PMID 28942966 DOI: 10.1016/J.Ajhg.2017.08.014 |
0.312 |
|
| 2017 |
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, et al. DNM1 encephalopathy: A new disease of vesicle fission. Neurology. PMID 28667181 DOI: 10.1212/Wnl.0000000000004152 |
0.449 |
|
| 2017 |
Theisen BE, Rumyantseva A, Cohen JS, Alcaraz WA, Shinde DN, Tang S, Srivastava S, Pevsner J, Trifunovic A, Fatemi A. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. American Journal of Medical Genetics. Part A. PMID 28650581 DOI: 10.1002/Ajmg.A.38339 |
0.321 |
|
| 2017 |
Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, Powis Z, Helbig K, Waller K, Grange DK, Tang S, Hagman KD. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Human Mutation. PMID 28106320 DOI: 10.1002/Humu.23183 |
0.309 |
|
| 2016 |
Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clinical Genetics. PMID 27598823 DOI: 10.1111/Cge.12861 |
0.389 |
|
| 2016 |
Kim JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CT, et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. American Journal of Human Genetics. PMID 27545680 DOI: 10.1016/J.Ajhg.2016.06.029 |
0.404 |
|
| 2016 |
Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, et al. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Annals of Neurology. PMID 27543892 DOI: 10.1002/Ana.24762 |
0.461 |
|
| 2016 |
Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, et al. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27513193 DOI: 10.1038/Gim.2016.95 |
0.338 |
|
| 2016 |
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, ... ... Shinde DN, et al. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. European Journal of Human Genetics : Ejhg. PMID 27352968 DOI: 10.1038/Ejhg.2016.80 |
0.333 |
|
| 2016 |
Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26795593 DOI: 10.1038/Gim.2015.186 |
0.313 |
|
| 2015 |
Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. Bmc Medical Genetics. 16: 102. PMID 26542245 DOI: 10.1186/S12881-015-0240-8 |
0.442 |
|
| 2013 |
Shinde DN, Elmer DP, Calabrese P, Boulanger J, Arnheim N, Tiemann-Boege I. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. Human Molecular Genetics. 22: 4117-26. PMID 23740942 DOI: 10.1093/Hmg/Ddt260 |
0.691 |
|
| 2009 |
Tiemann-Boege I, Curtis C, Shinde DN, Goodman DB, Tavaré S, Arnheim N. Product length, dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel. Analytical Chemistry. 81: 5770-6. PMID 19601653 DOI: 10.1021/Ac900633Y |
0.626 |
|
| 2007 |
Qin J, Calabrese P, Tiemann-Boege I, Shinde DN, Yoon SR, Gelfand D, Bauer K, Arnheim N. The molecular anatomy of spontaneous germline mutations in human testes. Plos Biology. 5: e224. PMID 17760502 DOI: 10.1371/Journal.Pbio.0050224 |
0.691 |
|
| 2003 |
Lai Y, Shinde D, Arnheim N, Sun F. The mutation process of microsatellites during the polymerase chain reaction. Journal of Computational Biology : a Journal of Computational Molecular Cell Biology. 10: 143-55. PMID 12804088 DOI: 10.1089/106652703321825937 |
0.628 |
|
| 2003 |
Shinde D, Lai Y, Sun F, Arnheim N. Taq DNA polymerase slippage mutation rates measured by PCR and quasi-likelihood analysis: (CA/GT)n and (A/T)n microsatellites. Nucleic Acids Research. 31: 974-80. PMID 12560493 DOI: 10.1093/Nar/Gkg178 |
0.567 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2022 |
Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, et al. Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability. Journal of Neurophysiology. PMID 35583973 DOI: 10.1152/jn.00509.2021 |
0.295 |
|
| 2020 |
Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, et al. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain : a Journal of Neurology. PMID 33242881 DOI: 10.1093/brain/awaa346 |
0.28 |
|
| 2018 |
Sajan SA, Ganesh J, Shinde DN, Powis Z, Scarano MI, Stone J, Winter S, Tang S. Biallelic disruption of is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. Journal of Medical Genetics. PMID 30478137 DOI: 10.1136/Jmedgenet-2018-105639 |
0.276 |
|
| 2019 |
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. When moments matter: Finding answers with rapid exome sequencing. Molecular Genetics & Genomic Medicine. e1027. PMID 31872981 DOI: 10.1002/Mgg3.1027 |
0.265 |
|
| 2021 |
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, et al. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. American Journal of Medical Genetics. Part A. PMID 33522091 DOI: 10.1002/ajmg.a.62102 |
0.238 |
|
| 2018 |
Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, ... ... Shinde DN, et al. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. American Journal of Human Genetics. PMID 29576218 DOI: 10.1016/J.Ajhg.2018.02.014 |
0.233 |
|
| 2012 |
Qian J, Ferguson TM, Shinde DN, Ramírez-Borrero AJ, Hintze A, Adami C, Niemz A. Sequence dependence of isothermal DNA amplification via EXPAR Nucleic Acids Research. 40. PMID 22416064 DOI: 10.1093/Nar/Gks230 |
0.211 |
|
| 2021 |
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, ... ... Shinde DN, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics. PMID 33596411 DOI: 10.1016/j.ajhg.2021.01.015 |
0.198 |
|
| 2022 |
Towne MC, Rossi M, Wayburn B, Huang JM, Radtke K, Alcaraz W, Farwell Hagman KD, Shinde DN. Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher. Human Mutation. PMID 35143109 DOI: 10.1002/humu.24342 |
0.183 |
|
| 2018 |
Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, et al. Erratum: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29388939 DOI: 10.1038/gim.2017.263 |
0.168 |
|
| 2013 |
Roskos K, Hickerson AI, Lu HW, Ferguson TM, Shinde DN, Klaue Y, Niemz A. Simple system for isothermal DNA amplification coupled to lateral flow detection. Plos One. 8: e69355. PMID 23922706 DOI: 10.1371/Journal.Pone.0069355 |
0.15 |
|
| 2004 |
Kelkar SD, Ray PG, Shinde DN. An epidemic of rotavirus diarrhoea in Jawhar Taluk, Thane district, Maharashtra, India, December 2000-January 2001. Epidemiology and Infection. 132: 337-41. PMID 15061509 DOI: 10.1017/S0950268803001912 |
0.091 |
|
| 2011 |
Tande SN, Shinde DN. Seismic response of adjacent coupled buildings with MDOF systems using SAVD device Journal of Structural Engineering (Madras). 38: 261-271. |
0.06 |
|
| 2015 |
Bendale VT, Patil CL, Chavan RP, Shinde DN. Analysis of milk quality and adulteration in milk samples collected from Thane International Journal of Pharma and Bio Sciences. 6: P729-P733. |
0.055 |
|
| 2008 |
Lokhande RS, Shinde DN, Kulkarni SW, Lohani P, Ghodvinde V, Gangele S. Hydrobiological studies of Ulhas river, Thane district (M.S.), India, at various stations Pollution Research. 27: 735-738. |
0.044 |
|
| 2003 |
Ingle ST, Shinde DN, Namdas SB. Effects of rogar and endosulfan on the metabolism of fresh water sponge (Spongilla lacustris) Journal of Environmental Biology. 24: 63-67. PMID 12974413 |
0.041 |
|
| 2009 |
Tande SN, Krishnaswamy KT, Shinde DN. Optimal seismic response of adjacent coupled buildings with dampers Journal of the Institution of Engineers (India): Civil Engineering Division. 90: 19-24. |
0.039 |
|
| 2009 |
Prashant L, Shinde DN, Santosh K, Vijay G, Gangele SS. A case study of ambient air quality with vehicular load in Ulhasnagar, Maharashtra, India Pollution Research. 28: 481-484. |
0.031 |
|
| 2009 |
Ghodvinde VJ, Shinde DN, Lohani PP, Kulkarni SW, Gangele SS. Calibration and modeling of NPK based on soil fertility for lowland rice grown in Shahapur Tahasil Ecology, Environment and Conservation. 15: 481-484. |
0.028 |
|
| 2002 |
Shinde DN, Ingle ST, Pachpande B. Bioaccumulation of pesticide in fresh water sponges (spongilla lacustris) Asian Journal of Microbiology, Biotechnology and Environmental Sciences. 4: 345-347. |
0.015 |
|
| 2005 |
Patankar JA, Shah A, Rane V, Vaidya RB, Shinde DN. Synthesis of pyrrolopyrazoles and pyrrolobenzodiazepines as antimicrobial agents Indian Journal of Heterocyclic Chemistry. 15: 125-128. |
0.01 |
|
| Hide low-probability matches. |