Pediatric - Genetics Division

Research output

Research output per year 1970 1986 1989 2007 2009 2013 2014 2015 2018 2019 2021 2022 2023

• 117 Article
• 5 Chapter
• 4 Comment/debate
• 4 Review article
• 3 More
  • 3 Letter

Research output per year

Research output per year

Search results

• 2023

  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

  Kaur, M., Blair, J., Devkota, B., Fortunato, S., Clark, D., Lawrence, A., Kim, J., Do, W., Semeo, B., Katz, O., Mehta, D., Yamamoto, N., Schindler, E., Al Rawi, Z., Wallace, N., Wilde, J. J., McCallum, J., Liu, J., Xu, D., Jackson, M., & 77 othersRentas, S., Tayoun, A. A., Zhe, Z., Abdul-Rahman, O., Allen, B., Angula, M. A., Anyane-Yeboa, K., Argente, J., Arn, P. H., Armstrong, L., Basel-Salmon, L., Baynam, G., Bird, L. M., Bruegger, D., Ch'ng, G. S., Chitayat, D., Clark, R., Cox, G. F., Dave, U., DeBaere, E., Field, M., Graham, J. M., Gripp, K. W., Greenstein, R., Gupta, N., Heidenreich, R., Hoffman, J., Hopkin, R. J., Jones, K. L., Jones, M. C., Kariminejad, A., Kogan, J., Lace, B., Leroy, J., Lynch, S. A., McDonald, M., Meagher, K., Mendelsohn, N., Micule, I., Moeschler, J., Nampoothiri, S., Ohashi, K., Powell, C. M., Ramanathan, S., Raskin, S., Roeder, E., Rio, M., Rope, A. F., Sangha, K., Scheuerle, A. E., Schneider, A., Shalev, S., Siu, V., Smith, R., Stevens, C., Tkemaladze, T., Toimie, J., Toriello, H., Turner, A., Wheeler, P. G., White, S. M., Young, T., Loomes, K. M., Pipan, M., Harrington, A. T., Zackai, E., Rajagopalan, R., Conlin, L., Deardorff, M. A., McEldrew, D., Pie, J., Ramos, F., Musio, A., Kline, A. D., Izumi, K., Raible, S. E. & Krantz, I. D., Aug 2023, In: American Journal of Medical Genetics, Part A. 191, 8, p. 2113-2131 19 p.

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

• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kortüm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K., Srinivasan, V. M., & 44 othersBakhtiari, S., Kruer, M. C., Salih, M. A., Kuechler, A., Muller, E. A., Blocker, K., Kuismin, O., Park, K. L., Kochhar, A., Brown, K., Ramanathan, S., Clark, R. D., Elgizouli, M., Melikishvili, G., Tabatadze, N., Stark, Z., Mirzaa, G. M., Ong, J., Grasshoff, U., Bevot, A., von Wintzingerode, L., Jamra, R. A., Hennig, Y., Goldenberg, P., Al Alam, C., Charif, M., Boulouiz, R., Bellaoui, M., Amrani, R., Al Mutairi, F., Tamim, A. M., Abdulwahab, F., Alkuraya, F. S., Khouj, E. M., Alvi, J. R., Sultan, T., Hashemi, N., Karimiani, E. G., Ashrafzadeh, F., Imannezhad, S., Efthymiou, S., Houlden, H., Sticht, H. & Zweier, C., Aug 2023, In: Genetics in Medicine. 25, 8, 100885.

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

• PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

  Petit, F., Longoni, M., Wells, J., Maser, R. S., Bogenschutz, E. L., Dysart, M. J., Contreras, H. T. M., Frénois, F., Pober, B. R., Clark, R. D., Giampietro, P. F., Ropers, H. H., Hu, H., Loscertales, M., Wagner, R., Ai, X., Brand, H., Jourdain, A. S., Delrue, M. A., Gilbert-Dussardier, B., & 19 othersDevisme, L., Keren, B., McCulley, D. J., Qiao, L., Hernan, R., Wynn, J., Scott, T. M., Calame, D. G., Coban-Akdemir, Z., Hernandez, P., Hernandez-Garcia, A., Yonath, H., Lupski, J. R., Shen, Y., Chung, W. K., Scott, D. A., Bult, C. J., Donahoe, P. K. & High, F. A., Oct 5 2023, In: American Journal of Human Genetics. 110, 10, p. 1787-1803 17 p.

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

  Open Access
• 2022

  ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection

  Thomas, A. X., Link, N., Robak, L. A., Demmler-Harrison, G., Pao, E. C., Squire, A. E., Michels, S., Cohen, J. S., Comi, A., Prontera, P., Verrotti di Pianella, A., Di Cara, G., Garavelli, L., Caraffi, S. G., Fusco, C., Zuntini, R., Parks, K. C., Sherr, E. H., Hashem, M. O., Maddirevula, S., & 8 othersAlkuraya, F. S., Contractar, I. A. F., Neil, J. E., Walsh, C. A., Bellen, H. J., Chao, H. T., Clark, R. D. & Mirzaa, G. M., Aug 2022, In: Annals of Clinical and Translational Neurology. 9, 8, p. 1276-1288 13 p.

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

  Open Access

• Delayed diagnosis and racial bias in children with genetic conditions

  Omorodion, J., Dowsett, L., Clark, R. D., Fraser, J., Abu-El-Haija, A., Strong, A., Wojcik, M. H., Bryant, A. S. & Gold, N. B., Apr 2022, In: American Journal of Medical Genetics, Part A. 188, 4, p. 1118-1123 6 p.

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

  Open Access

• De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

  Lu, S., Ma, M., Mao, X., Bacino, C. A., Jankovic, J., Sutton, V. R., Bartley, J. A., Wang, X., Rosenfeld, J. A., Beleza-Meireles, A., Chauhan, J., Pan, X., Li, M., Liu, P., Prescott, K., Amin, S., Davies, G., Wangler, M. F., Dai, Y. & Bellen, H. J., Oct 6 2022, In: American Journal of Human Genetics. 109, 10, p. 1932-1943 12 p.

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

  Open Access

• Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader–Willi Syndrome

  Mahmoud, R., Swanson, H. D., Butler, M. G., Flodman, P., Gold, J. A., Miller, J. L., Roof, E., Osann, K., Dykens, E., Driscoll, D. J. & Kimonis, V., May 1 2022, In: Journal of Clinical Medicine. 11, 9, 2572.

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

  Open Access

• O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

  Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C. Y., Fung, J. L. F., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., Denommé-Pichon, A. S., De Dios, J. K., England, E., Funalot, B., Gerard, M., Joseph, M., & 19 othersKennedy, C., Kumps, C., Willems, M., Van De Laar, I. M. B. H., Aarts-Tesselaar, C., Van Slegtenhorst, M., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L. S., Paterson, H., Ramanathan, S., Rodan, L. H., Superti-Furga, A., Chung, B. H. Y., Sherr, E., Netzer, C., Schaaf, C. P. & Erger, F., Jul 1 2022, In: Journal of Medical Genetics. 59, 7, p. 697-705 9 p.

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

  Open Access
• 2021

  CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

  Palmer, E. E., Whitton, C., Hashem, M. O., Clark, R. D., Ramanathan, S., Starr, L. J., Velasco, D., De Dios, J. K., Singh, E., Cormier-Daire, V., Chopra, M., Rodan, L. H., Nellaker, C., Lakhani, S., Mallack, E. J., Panzer, K., Sidhu, A., Wentzensen, I. M., Lacombe, D., Michaud, V., & 1 othersAlkuraya, F. S., Oct 2021, In: Clinical Genetics. 100, 4, p. 468-477 10 p.

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

  Open Access

• Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes

  Veatch, O. J., Malow, B. A., Lee, H. S., Knight, A., Barrish, J. O., Neul, J. L., Lane, J. B., Skinner, S. A., Kaufmann, W. E., Miller, J. L., Driscoll, D. J., Bird, L. M., Butler, M. G., Dykens, E. M., Gold, J. A., Kimonis, V., Bacino, C. A., Tan, W. H., Kothare, S. V., Peters, S. U., & 2 othersPercy, A. K. & Glaze, D. G., Oct 2021, In: Pediatric Neurology. 123, p. 30-37 8 p.

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

  Open Access

• Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study

  Mahmoud, R., Leonenko, A., Butler, M. G., Flodman, P., Gold, J. A., Miller, J. L., Roof, E., Dykens, E., Driscoll, D. J. & Kimonis, V., Jul 2021, In: Clinical Genetics. 100, 1, p. 29-39 11 p.

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

  Open Access

• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

  Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M., Gates, R., & 25 othersGomez-Ospina, N., Ramanathan, S., Clark, R. D., Glaser, K., Benke, P. J., Cohen, J. S., Fatemi, A., Mu, W., Baranano, K. W., Madden, J. A., Gubbels, C. S., Yu, T. W., Agrawal, P. B., Chambers, M. K., Phornphutkul, C., Pugh, J. A., Tauber, K. A., Azova, S., Smith, J. R., O’Donnell-Luria, A., Medsker, H., Srivastava, S., Krakow, D., Schweitzer, D. N. & Arboleda, V. A., Oct 2021, In: Molecular Genetics and Genomic Medicine. 9, 10, e1809.

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

  Open Access
• 2020

  Genetic subtype-phenotype analysis of growth hormone treatment on psychiatric behavior in prader-willi syndrome

  Montes, A. S., Osann, K. E., Gold, J. A., Tamura, R. N., Driscoll, D. J., Butler, M. G. & Kimonis, V. E., Nov 2020, In: Genes. 11, 11, p. 1-11 11 p., 1250.

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

  Open Access

• Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome

  Oldzej, J., Manazir, J., Gold, J. A., Mahmoud, R., Osann, K., Flodman, P., Cassidy, S. B. & Kimonis, V. E., Jan 1 2020, In: American Journal of Medical Genetics, Part A. 182, 1, p. 169-175 7 p.

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

  Open Access
• 2019

  A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

  Kimonis, V., Surampalli, A., Wencel, M., Gold, J. A. & Cowen, N. M., Sep 1 2019, In: PLoS ONE. 14, 9, e0221615.

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

  Open Access

• Birth seasonality studies in a large Prader–Willi syndrome cohort

  Butler, M. G., Kimonis, V., Dykens, E., Gold, J. A., Tamura, R., Miller, J. L. & Driscoll, D. J., Aug 2019, In: American Journal of Medical Genetics, Part A. 179, 8, p. 1531-1534 4 p.

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

  Open Access

• Contributing factors of mortality in Prader–Willi syndrome

  Proffitt, J., Osann, K., McManus, B., Kimonis, V. E., Heinemann, J., Butler, M. G., Stevenson, D. A. & Gold, J. A., Feb 2019, In: American Journal of Medical Genetics, Part A. 179, 2, p. 196-205 10 p.

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

  Open Access

• Cornelia de Lange syndrome in diverse populations

  Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V. H. W., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P., & 45 othersUwineza, A., Mutesa, L., Tekendo-Ngongang, C., Wonkam, A., Fieggen, K., Batista, L. C., Moretti-Ferreira, D., Stevenson, R. E., Prijoles, E. J., Everman, D., Clarkson, K., Worthington, J., Kimonis, V., Hisama, F., Crowe, C., Wong, P., Johnson, K., Clark, R. D., 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, M. G. & Krantz, I. D., Feb 2019, In: American Journal of Medical Genetics, Part A. 179, 2, p. 150-158 9 p.

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

  Open Access

• De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

  Vetrini, F., McKee, S., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., Roeder, E., Littlejohn, R. O., Holder, S., Zhu, W., Alaimo, J. T., Graham, B., Harris, J. M., Gibson, J. B., Pastore, M., McBride, K. L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E. A., & 37 othersWierenga, K. J., Scott, D. A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J. L., Burrage, L. C., Seaver, L. H., Van Maldergem, L., Mahida, S., Soul, J. S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J. A., Park, S. M., Varghese, V., Lampe, A. K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., Muzny, D. M., Gibbs, R. A., Elsea, S. H., Posey, J. E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C. M., Lupski, J. R. & Liu, P., Feb 28 2019, In: Genome Medicine. 11, 1, 12.

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

  Open Access

• Early diagnosis in prader–willi syndrome reduces obesity and associated co-morbidities

  Kimonis, V. E., Tamura, R., Gold, J. A., Patel, N., Surampalli, A., Manazir, J., Miller, J. L., Roof, E., Dykens, E., Butler, M. G. & Driscoll, D. J., Nov 2019, In: Genes. 10, 11, 898.

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

  Open Access

• Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index

  Butler, M. G., Matthews, N. A., Patel, N., Surampalli, A., Gold, J. A., Khare, M., Thompson, T., Cassidy, S. B. & Kimonis, V. E., 2019, In: American Journal of Medical Genetics, Part A. 179, 9, p. 1826-1835 10 p.

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

  Open Access

• Molecular genetic classification in Prader-Willi syndrome: A multisite cohort study

  Butler, M. G., Hartin, S. N., Hossain, W. A., Manzardo, A. M., Kimonis, V., Dykens, E., Gold, J. A., Kim, S. J., Weisensel, N., Tamura, R., Miller, J. L. & Driscoll, D. J., Mar 1 2019, In: Journal of Medical Genetics. 56, 3, p. 149-153 5 p.

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

  Open Access

• Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

  Link, N., Chung, H., Jolly, A., Withers, M., Tepe, B., Arenkiel, B. R., Shah, P. S., Krogan, N. J., Aydin, H., Geckinli, B. B., Tos, T., Isikay, S., Tuysuz, B., Mochida, G. H., Thomas, A. X., Clark, R. D., Mirzaa, G. M., Lupski, J. R. & Bellen, H. J., Dec 16 2019, In: Developmental Cell. 51, 6, p. 713-729.e6

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

  Open Access
• 2018

  Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis

  Liu, Y., Michelson, D., Clark, R. & Gold, J. A., 2018, In: Neurology. 91, 3, p. 143-147 5 p.

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

  Open Access

• Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome

  Gold, J. A., Mahmoud, R., Cassidy, S. B. & Kimonis, V., May 2018, In: American Journal of Medical Genetics, Part A. 176, 5, p. 1161-1165 5 p.

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

  Open Access

• Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

  Singh, P., Mahmoud, R., Gold, J. A., Miller, J. L., Roof, E., Tamura, R., Dykens, E., Butler, M. G., Driscoll, D. J. & Kimonis, V., Sep 1 2018, In: Journal of Medical Genetics. 55, 9, p. 594-598 5 p.

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

  Open Access

• Prader–Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study

  Butler, M. G., Kimonis, V., Dykens, E., Gold, J. A., Miller, J., Tamura, R. & Driscoll, D. J., Feb 2018, In: American Journal of Medical Genetics, Part A. 176, 2, p. 368-375 8 p.

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

  Open Access

• SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

  Stokes, B., Berger, S. I., Hall, B. A., Weiss, K., Martinez, A. F., Hadley, D. W., Murdock, D. R., Ramanathan, S., Clark, R. D., Roessler, E., Kruszka, P. & Muenke, M., Jan 2018, In: Congenital Anomalies. 58, 1, p. 29-32 4 p.

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

  Open Access

• The importance of preconception and prenatal genetic evaluation in heart transplant individuals and fetal and postnatal cardiac monitoring in their offspring

  Liu, Y., Bock, M. J. & Gold, J. A., Nov 1 2018, In: Cardiology in the Young. 28, 11, p. 1356-1358 3 p.

  Research output: Contribution to journal › Article › peer-review
• 2017

  A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester

  Jones, M., Chung, J., Kimonis, V. & Gold, J. A., 2017, In: Clinical Dysmorphology. 26, 2, p. 98-100 3 p.

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

  Open Access

• Oxytocin treatment in children with Prader–Willi syndrome: A double-blind, placebo-controlled, crossover study

  Miller, J. L., Tamura, R., Butler, M. G., Kimonis, V., Sulsona, C., Gold, J. A. & Driscoll, D. J., May 2017, In: American Journal of Medical Genetics, Part A. 173, 5, p. 1243-1250 8 p.

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

  Open Access

• Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3)

  Dang, V., Surampalli, A., Manzardo, A. M., Youn, S., Butler, M. G., Gold, J. A. & Kimonis, V. E., Jan 1 2017, In: Cytogenetic and Genome Research. 150, 1, p. 29-34 6 p.

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

  Open Access
• 2016

  Growth Charts for Prader-Willi Syndrome during Growth Hormone Treatment

  Butler, M. G., Lee, J., Cox, D. M., Manzardo, A. M., Gold, J. A., Miller, J. L., Roof, E., Dykens, E., Kimonis, V. & Driscoll, D. J., Sep 1 2016, In: Clinical Pediatrics. 55, 10, p. 957-974 18 p.

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

  Open Access

• Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

  Deml, B., Reis, L. M., Lemyre, E., Clark, R. D., Kariminejad, A. & Semina, E. V., Apr 1 2016, In: European Journal of Human Genetics. 24, 4, p. 535-541 7 p.

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

  Open Access
• 2015

  Concurrent triplication and uniparental isodisomy: Evidence for microhomology-mediated break-induced replication model for genomic rearrangements

  Sahoo, T., Wang, J. C., Elnaggar, M. M., Sanchez-Lara, P., Ross, L. P., Mahon, L. W., Hafezi, K., Deming, A., Hinman, L., Bruno, Y., Bartley, J. A., Liehr, T., Anguiano, A. & Jones, M., Jan 11 2015, In: European Journal of Human Genetics. 23, 1, p. 61-66 6 p.

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

  Open Access

• Growth charts for non-growth hormone treated prader-willi syndrome

  Butler, M. G., Lee, J., Manzardo, A. M., Gold, J. A., Miller, J. L., Kimonis, V. & Driscoll, D. J., Jan 1 2015, In: Pediatrics. 135, 1, p. e126-e135

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

  Open Access
• 2014

  A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

  Yamamoto, S., Jaiswal, M., Charng, W. L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N. A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L. E. L. M., & 23 othersDe Ligt, J., Jhangiani, S. N., Xie, Y., Tsang, S. H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y. W., Liu, Z., Lin-Moore, A. T., Clark, R. D., Curry, C. J., Link, N., Schulze, K. L., Boerwinkle, E., Dobyns, W. B., Allikmets, R., Gibbs, R. A., Chen, R., Lupski, J. R., Wangler, M. F. & Bellen, H. J., Sep 25 2014, In: Cell. 159, 1, p. 200-214 15 p.

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

  Open Access

• Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

  Keppler-Noreuil, K. M., Sapp, J. C., Lindhurst, M. J., Parker, V. E. R., Blumhorst, C., Darling, T., Tosi, L. L., Huson, S. M., Whitehouse, R. W., Jakkula, E., Grant, I., Balasubramanian, M., Chandler, K. E., Fraser, J. L., Gucev, Z., Crow, Y. J., Brennan, L. M., Clark, R., Sellars, E. A., Pena, L. D., & 11 othersKrishnamurty, V., Shuen, A., Braverman, N., Cunningham, M. L., Sutton, V. R., Tasic, V., Graham, J. M., Geer, J., Henderson, A., Semple, R. K. & Biesecker, L. G., Jul 2014, In: American Journal of Medical Genetics, Part A. 164, 7, p. 1713-1733 21 p.

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

  Open Access

• Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome

  Khare, M., Gold, J. A., Wencel, M., Billimek, J., Surampalli, A., Duarte, B., Pontello, A., Galassetti, P., Cassidy, S. & Kimonis, V. E., May 2014, In: Journal of Pediatric Endocrinology and Metabolism. 27, 5-6, p. 511-518 8 p.

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

  Open Access

• Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology

  Gold, J. A., Ruth, C., Osann, K., Flodman, P., McManus, B., Lee, H. S., Donkervoort, S., Khare, M., Roof, E., Dykens, E., Driscoll, D. J., Butler, M. G., Heinemann, J., Cassidy, S. & Kimonis, V. E., Feb 2014, In: Genetics in Medicine. 16, 2, p. 164-169 6 p.

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

  Open Access

• Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

  Esplin, E. D., Li, B., Slavotinek, A., Novelli, A., Battaglia, A., Clark, R., Curry, C. & Hudgins, L., Aug 2014, In: American Journal of Medical Genetics, Part A. 164, 8, p. 2097-2103 7 p.

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

• Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

  Lindstrand, A., Davis, E. E., Carvalho, C. M. B., Pehlivan, D., Willer, J. R., Tsai, I. C., Ramanathan, S., Zuppan, C., Sabo, A., Muzny, D., Gibbs, R., Liu, P., Lewis, R. A., Banin, E., Lupski, J. R., Clark, R. & Katsanis, N., May 1 2014, In: American Journal of Human Genetics. 94, 5, p. 745-754 10 p.

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

  Open Access
• 2013

  Assisted reproductive technologies: The need for multi-disciplinary review of its impact on neonatal/perinatal medicine and medical genetics

  Merritt, T. A., Lavery, A., Gold, J. A., Clark, R. D. & Oshiro, B., Jul 2013, In: NeoReviews. 14, 7, p. e360-e368

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

• Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria

  Rush, E. T., Adam, M. P., Clark, R. D., Curry, C., Hartmann, J. E., Dobyns, W. B. & Olney, A. H., Feb 2013, In: American Journal of Medical Genetics, Part A. 161, 2, p. 320-326 7 p.

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

• Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

  Miyake, N., Yano, S., Sakai, C., Hatakeyama, H., Matsushima, Y., Shiina, M., Watanabe, Y., Bartley, J., Abdenur, J. E., Wang, R. Y., Chang, R., Tsurusaki, Y., Doi, H., Nakashima, M., Saitsu, H., Ogata, K., Goto, Y. I. & Matsumoto, N., Mar 2013, In: Human Mutation. 34, 3, p. 446-452 7 p.

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

  Open Access
• 2012

  Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

  Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W., Fenckova, M., Van Den Akker, W. M. R., Kasri, N. N., Nillesen, W. M., Prescott, T., Clark, R. D., Devriendt, K., Van Reeuwijk, J., De Brouwer, A. P. M., Gilissen, C., Zhou, H., Brunner, H. G., Veltman, J. A., & 2 othersSchenck, A. & Van Bokhoven, H., Jul 13 2012, In: American Journal of Human Genetics. 91, 1, p. 73-82 10 p.

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

  Open Access

• Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

  Manzini, M. C., Tambunan, D. E., Hill, R. S., Yu, T. W., Maynard, T. M., Heinzen, E. L., Shianna, K. V., Stevens, C. R., Partlow, J. N., Barry, B. J., Rodriguez, J., Gupta, V. A., Al-Qudah, A. K., Eyaid, W. M., Friedman, J. M., Salih, M. A., Clark, R., Moroni, I., Mora, M., Beggs, A. H., & 2 othersGabriel, S. B. & Walsh, C. A., Sep 7 2012, In: American Journal of Human Genetics. 91, 3, p. 541-547 7 p.

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

  Open Access

• Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome

  Henkhaus, R. S., Kim, S. J., Kimonis, V. E., Gold, J. A., Dykens, E. M., Driscoll, D. J. & Butler, M. G., Mar 1 2012, In: Genetic Testing and Molecular Biomarkers. 16, 3, p. 178-186 9 p.

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

  Open Access

• Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

  Muller, E. A., Aradhya, S., Atkin, J. F., Carmany, E. P., Elliott, A. M., Chudley, A. E., Clark, R. D., Everman, D. B., Garner, S., Hall, B. D., Herman, G. E., Kivuva, E., Ramanathan, S., Stevenson, D. A., Stockton, D. W. & Hudgins, L., Feb 2012, In: American Journal of Medical Genetics, Part A. 158 A, 2, p. 391-399 9 p.

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

  Open Access
• 2011

  Growth standards of infants with Prader-Willi syndrome

  Butler, M. G., Sturich, J., Lee, J., Myers, S. E., Whitman, B. Y., Gold, J. A., Kimonis, V., Scheimann, A., Terrazas, N. & Driscoll, D. J., Apr 2011, In: Pediatrics. 127, 4, p. 687-695 9 p.

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

  Open Access