Publications


Citing GeneMatcher:

If you are publishing a paper that resulted at least in part from a successful GeneMatcher match, please state this in the paper and cite GeneMatcher:

Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene. Hum Mutat. 2015 Jul 29. doi: 10.1002/humu.22844. PubMed: 26220891.

Another paper that discusses GeneMatcher is:

Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat. 2015 Apr;36(4):425-31. doi: 10.1002/humu.22769. PubMed: 25684268.

Citing the website:

https://genematcher.org/statistics/. Accessed July 17th, 2018


Media Referencing GeneMatcher (9):

  1. HudsonAlpha Institute for Biotechnology. 2016 Research report. January 1, 2016.
    http://publications.instantflipbook.com/48eaee53f0/?page=1

  2. Global Alliance for Genomics & Health News Blog. January 1, 2016.
    https://genomicsandhealth.org/news-blog/greater-the-sum-its-parts-how-matchmaker-exchange-being-used-solve-todays-hardest-rare-dis

  3. Meet GeneMatcher: New crowdsourced sites for rare diseases. Valley News Live (CNN), February 29, 2016.
    http://www.valleynewslive.com/home/headlines/Meet-GeneMatcher-New-crowdsourced-sites-for-rare-diseases-370495361.html

  4. Duke Health. "Network and gene tools help quickly identify new, rare genetic disease." ScienceDaily, September 1, 2016.
    https://www.sciencedaily.com/releases/2016/09/160929133616.htm

  5. Huntsville researches help discover new genetic disorder causing intellectual delay. Tech Alabama, December 23, 2016.
    http://www.waaytv.com/tech_alabama/huntsville-researches-help-discover-new-genetic-disorder-causing-intellectual-delay/article_b4719cb0-c863-11e6-931a-23e5835a0559.html

  6. HudsonAlpha breaks ground with new finding about rare, genetic disorder. WHNT News 19, December 23, 2016.
    http://whnt.com/2016/12/23/hudsonalpha-breaks-ground-with-new-finding-about-rare-genetic-disorder/

  7. Collaboration matters when looking for answers to undiagnosed diseases. January 1, 2017.
    https://fromthelabs.bcm.edu/2017/02/10/collaboration-matters-when-looking-for-answers-to-undiagnosed-diseases/

  8. Geenitutkijan Tinder Toi Osuman. June 20, 2017.
    https://www.helsinki.fi/fi/uutiset/geenitutkijan-tinder-toi-osuman

  9. Na negen jaar een diagnose: dit gebeurde in de tussentijd. July 7, 2017.
    http://www.volkskrant.nl/wetenschap/na-negen-jaar-een-diagnose-dit-gebeurde-in-de-tussentijd~a4505095/


Publications Referencing GeneMatcher (92):

  1. Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum. Mutat. 2015 Apr;36(4):425-31. doi:10.1002/humu.22769. PubMed: 25684268.

  2. Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57. doi:10.1101/gr.186882.114. PubMed: 25917818.

  3. Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am. J. Hum. Genet. 2015 Aug 6;97(2):343-52. doi:10.1016/j.ajhg.2015.07.004. PubMed: 26235985.

  4. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am. J. Hum. Genet. 2015 Aug 6;97(2):199-215. doi:10.1016/j.ajhg.2015.06.009. PubMed: 26166479.

  5. Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA. Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. Curr Neurol Neurosci Rep. 2015 Sep;15(9):64. doi:10.1007/s11910-015-0584-7. PubMed: 26289954.

  6. Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am. J. Hum. Genet. 2015 Sep 3;97(3):457-64. doi:10.1016/j.ajhg.2015.07.014. PubMed: 26299366.

  7. Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Am. J. Hum. Genet. 2015 Sep 3;97(3):493-500. doi:10.1016/j.ajhg.2015.08.003. PubMed: 26340335.

  8. Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum. Mutat. 2015 Oct;36(10):928-30. doi:10.1002/humu.22844. PubMed: 26220891.

  9. Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum. Mutat. 2015 Oct;36(10):1009-1014. doi:10.1002/humu.22837. PubMed: 26173930.

  10. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum. Mutat. 2015 Oct;36(10):915-21. doi:10.1002/humu.22858. PubMed: 26295439.

  11. Lambertson KF, Damiani SA, Might M, Shelton R, Terry SF. Participant-driven matchmaking in the genomic era. Hum. Mutat. 2015 Oct;36(10):965-73. doi:10.1002/humu.22852. PubMed: 26252162.

  12. Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. Hum. Mutat. 2015 Oct;36(10):1004-8. doi:10.1002/humu.22839. PubMed: 26183434.

  13. Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Hum. Mutat. 2015 Oct;36(10):1015-9. doi:10.1002/humu.22843. PubMed: 26220823.

  14. Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, Alkuraya FS. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. Am. J. Hum. Genet. 2015 Oct 1;97(4):608-15. doi:10.1016/j.ajhg.2015.08.007. PubMed: 26365341.

  15. Lawler M, Siu LL, Rehm HL, Chanock SJ, Alterovitz G, Burn J, Calvo F, Lacombe D, Teh BT, North KN, Sawyers CL. All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health. Cancer Discov. 2015 Nov;5(11):1133-6. doi:10.1158/2159-8290.CD-15-0821. PubMed: 26526696.

  16. Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am. J. Hum. Genet. 2015 Nov 5;97(5):744-53. doi:10.1016/j.ajhg.2015.09.009. PubMed: 26477546.

  17. Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016;1. doi:10.1038/npjgenmed.2016.36. PubMed: 28868155.

  18. Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, Jiang YH, McConkie-Rosell A, Schaefer GB, Kaylor J, Rahman OA, Telegrafi A, Friedman B, Douglas G, Monaghan KG, Chung WK. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Cold Spring Harb Mol Case Stud. 2016 Jan;2(1):a000661. doi:10.1101/mcs.a000661. PubMed: 27148580.

  19. Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur. J. Hum. Genet. 2016 Jan;25(1):79-84. doi:10.1038/ejhg.2016.128. PubMed: 27759031.

  20. Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. Am. J. Med. Genet. A. 2016 Jan;170A(1):156-61. doi:10.1002/ajmg.a.37405. PubMed: 26395437.

  21. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR, Majewski J, Boycott KM. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin. Genet. 2016 Mar;89(3):275-84. doi:10.1111/cge.12654. PubMed: 26283276.

  22. Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am. J. Hum. Genet. 2016 Mar 3;98(3):562-570. doi:10.1016/j.ajhg.2016.01.011. PubMed: 26942288.

  23. Olgiati S, Quadri M, Bonifati V. Genetics of movement disorders in the next-generation sequencing era. Mov. Disord. 2016 Apr;31(4):458-70. doi:10.1002/mds.26521. PubMed: 26899883.

  24. You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MBP, Valle D, Armanios M, Hoover-Fong J. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am. J. Hum. Genet. 2016 May 5;98(5):909-918. doi:10.1016/j.ajhg.2016.03.014. PubMed: 27132593.

  25. Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am. J. Hum. Genet. 2016 May 5;98(5):1001-1010. doi:10.1016/j.ajhg.2016.03.011. PubMed: 27108799.

  26. Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am. J. Hum. Genet. 2016 May 5;98(5):963-970. doi:10.1016/j.ajhg.2016.03.002. PubMed: 27087320.

  27. Lelieveld SH, Veltman JA, Gilissen C. Novel bioinformatic developments for exome sequencing. Hum. Genet. 2016 Jun;135(6):603-14. doi:10.1007/s00439-016-1658-6. PubMed: 27075447.

  28. Li R, Sobreira N, Witmer PD, Pratz KW, Braunstein EM. Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. Haematologica. 2016 Jun;101(6):e228-31. doi:10.3324/haematol.2015.139790. PubMed: 26944477.

  29. Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 Jul;17(3):159-64. doi:10.1007/s10048-016-0479-z. PubMed: 27003583.

  30. Chacón-Camacho OF, Sobreira N, You J, Piña-Aguilar RE, Villegas-Ruiz V, Zenteno JC. Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. Am. J. Med. Genet. A. 2016 Jul;170(7):1934-7. doi:10.1002/ajmg.a.37683. PubMed: 27139419.

  31. Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, Kircher M, Daza RM, Ibrahim N, Wakil SM, Alaqeel A, Altowaijri I, Shendure J, Al-Habib A, Faqieh E, Alkuraya FS. Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genet. Med. 2016 Jul;18(7):686-95. doi:10.1038/gim.2015.147. PubMed: 26633546.

  32. Sobreira NL, Valle D. Lessons learned from the search for genes responsible for rare Mendelian disorders. Mol Genet Genomic Med. 2016 Jul;4(4):371-5. doi:10.1002/mgg3.233. PubMed: 27468413.

  33. Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 Jul 19;9(1):42. doi:10.1186/s12920-016-0208-3. PubMed: 27435318.

  34. Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet. Med. 2016 Aug;18(8):788-95. doi:10.1038/gim.2015.161. PubMed: 26656649.

  35. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J. Clin. Invest. 2016 Aug 1;126(8):2881-92. doi:10.1172/JCI82890. PubMed: 27427983.

  36. Kobayashi Y, Horie M, Nakano A, Murata K, Itou T, Suzuki Y. Exaptation of Bornavirus-Like Nucleoprotein Elements in Afrotherians. PLoS Pathog. 2016 Aug;12(8):e1005785. doi:10.1371/journal.ppat.1005785. PubMed: 27518265.

  37. Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. Am. J. Hum. Genet. 2016 Aug 4;99(2):451-9. doi:10.1016/j.ajhg.2016.06.011. PubMed: 27476655.

  38. Du C, Pusey BN, Adams CJ, Lau CC, Bone WP, Gahl WA, Markello TC, Adams DR. Explorations to improve the completeness of exome sequencing. BMC Med Genomics. 2016 Aug 27;9(1):56. doi:10.1186/s12920-016-0216-3. PubMed: 27568008.

  39. Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. Clin. Genet. 2016 Sep;90(3):258-62. doi:10.1111/cge.12773. PubMed: 26954065.

  40. Abou Tayoun AN, Krock B, Spinner NB. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. Expert Rev. Mol. Diagn. 2016 Sep;16(9):987-99. doi:10.1080/14737159.2016.1209411. PubMed: 27388938.

  41. Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am. J. Hum. Genet. 2016 Sep 1;99(3):720-727. doi:10.1016/j.ajhg.2016.06.035. PubMed: 27545676.

  42. Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. Am. J. Hum. Genet. 2016 Sep 1;99(3):683-694. doi:10.1016/j.ajhg.2016.06.020. PubMed: 27545674.

  43. Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am. J. Hum. Genet. 2016 Oct 6;99(4):934-941. doi:10.1016/j.ajhg.2016.08.001. PubMed: 27616479.

  44. Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am. J. Hum. Genet. 2016 Oct 6;99(4):991-999. doi:10.1016/j.ajhg.2016.08.017. PubMed: 27693232.

  45. Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M. Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. Am. J. Hum. Genet. 2016 Oct 6;99(4):962-973. doi:10.1016/j.ajhg.2016.08.003. PubMed: 27666370.

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