peer-reviewed publications

We remain committed to sharing and publishing data with our internal and external collaborators in the scientific and medical literature. We are proud to share our extensive list of peer-reviewed publications here. Check back often, as our listing is regularly updated.

Listing by Category:

Hereditary Cancer

Cardiology

Clinical Genomics (Including Clinical Diagnostic Exome Sequencing)

Cystic Fibrosis

General Genetics / Pediatric Genetics

Neurogenetics

  • POGZ truncating alleles cause syndromic intellectual disability
    White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M1, Person RE1, Niu Z, Zhang J1, Rosenfeld JA1, Muzny DM, Eng C1, Beaudet AL1, Lupski JR1, Boerwinkle E, Gibbs RA1, Yang Y, Xia F, Sutton VR, 2016.
  • STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
    Stamberger H1, Nikanorova M1, Willemsen MH1, Accorsi P1, Angriman M1, Baier H1, Benkel-Herrenbrueck I1, Benoit V1, Budetta M1, Caliebe A1, Cantalupo G1, Capovilla G1, Casara G1, Courage C1, Deprez M1, Destrée A1, Dilena R1, Erasmus CE1, Fannemel M1, Fjær R1, Giordano L1, Helbig KL1, Heyne HO1, Klepper J1, Kluger GJ1, Lederer D1, Lodi M1, Maier O1, Merkenschlager A1, Michelberger N1, Minetti C1, Muhle H1, Phalin J1, Ramsey K1, Romeo A1, Schallner J1, Schanze I1, Shinawi M1, Sleegers K1, Sterbova K1, Syrbe S1, Traverso M1, Tzschach A1, Uldall P1, Van Coster R1, Verhelst H1, Viri M1, Winter S1, Wolff M1, Zenker M1, Zoccante L1, De Jonghe P1, Helbig I1, Striano P1, Lemke JR1, Møller RS2, Weckhuysen S2, 2015.
  • Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
    Gund C1, Powis Z1, Alcaraz W1, Desai S2, Baranano K2, 2015.
  • Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities
    Cameron Mroske, Kristen Rasmussen, Deepali N. Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M. Baxter, Elizabeth McPherson and Sha Tang Journal of Molecular Diagnostics, 2015.
  • WAC loss-of-function mutations cause a recognizable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
    Cori DeSanto, Kristin D’Aco, Gabriel C Araujo, Nora Shannon, DDD Study, Hilary Vernon, April Rahrig, Kristin G Monaghan, Zhiyv Niu, Patrik Vitazka, Jonathan Dodd, Sha Tang, Linda Manwaring, Arelis Martir-Negron, Rhonda E Schnur, Jane Juusola, Audrey Schroeder,Vivian Pan, Katherine L Helbig, Bethany Friedman, Marwan Shinawi1 Journal of Molecular Diagnostics, 2014.
  • Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing
    Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH. Journal of Molecular Diagnostics, 2014.
  • Improving the molecular diagnosis and treatment of epilepsy with complex genetic testing
    Aaron Elliott, PhD and Amanda Bergner, MS. Medical Laboratory Observer, 2016.
  • Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
    Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Moller RS, Hjalgrim H, Lal D, Neubauer BA, Nurnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CRJ, Misceo D, Frengen E, Stromme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJV, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BPC, Sa J, Mendonca C, de Kovel CGF, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Neurology, 2016.
  • Three cases of Troyer syndrome in two families of Filipino descent
    Butler S, Helbig KL, Alcaraz W, Seaver LH, Hsieh DT, Rohena L. Am J Med Genet, 2016.
  • Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping
    Amos J, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Care4Rare Canada Consortium, Riviere JB, Faivre L, Innes AM, Lebel RR, Boycott KM. Clin Genet, 2016.
  • BRAT1 mutations present with a spectrum of clinical severity
    Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. Am Med Genet A, 2016.
  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
    de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CGF, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MTA, St Martin AD, Chelly J, EuroEPINCOMIC S-RES MAE working group, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BPC. J Med Genet, 2016.
  • Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
    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, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Meyers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Illiescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Eur J Hum Genet, 2016.   

Hereditary Pancreatitis

Technology

R&D

  • The Escherichia coli NarL receiver domain regulates transcription through promoter specific functions
    Galit Katsir1, Michael Jarvis, Martin Phillips, Zhongcai Ma, and Robert P. Gunsalus.  Molecular Biotechnology, 2010.
  • Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium.
    Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Am J Hum Genet, 2016.

Publications that Reference Ambry Genetics

 

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