Jonathan (Jon) Zonana

Professor

  • 5071 Citations
  • 33 h-Index
1975 …2018

Research output per year

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Research Output

  • 5071 Citations
  • 33 h-Index
  • 72 Article
  • 4 Review article
  • 3 Letter
  • 2 Comment/debate
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Article
2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, M. C., Chen, Z., Balasubramanian, M., Barnett, C. P., Becker, T. A., Ben-Shachar, S., Bertola, D. R., Blakeley, J. O., Burkitt-Wright, E. M. M., Callaway, A., Crenshaw, M., Cunha, K. S., Cunningham, M., D'Agostino, M. D. & 55 others, Dahan, K., De Luca, A., Destrée, A., Dhamija, R., Eoli, M., Evans, D. G. R., Galvin-Parton, P., George-Abraham, J. K., Gripp, K. W., Guevara-Campos, J., Hanchard, N. A., Hernández-Chico, C., Immken, L. D., Janssens, S., Jones, K. J., Keena, B. A., Kochhar, A., Liebelt, J., Martir-Negron, A., Mahoney, M. J., Maystadt, I., McDougall, C., McEntagart, M., Mendelsohn, N., Miller, D. T., Mortier, G., Morton, J., Pappas, J., Plotkin, S. R., Pond, D., Rosenbaum, K., Rubin, K., Russell, L., Rutledge, L. S., Saletti, V., Schonberg, R., Schreiber, A., Seidel, M., Siqveland, E., Stockton, D. W., Trevisson, E., Ullrich, N. J., Upadhyaya, M., van Minkelen, R., Verhelst, H., Wallace, M. R., Yap, Y. S., Zackai, E., Zonana, J., Zurcher, V., Claes, K., Martin, Y., Korf, B. R., Legius, E. & Messiaen, L. M., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 69-87 19 p.

Research output: Contribution to journalArticle

32 Scopus citations
2017

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Low, K. J., Ansari, M., Abou Jamra, R., Clarke, A., El Chehadeh, S., Fitzpatrick, D. R., Greenslade, M., Henderson, A., Hurst, J., Keller, K., Kuentz, P., Prescott, T., Roessler, F., Selmer, K. K., Schneider, M. C., Stewart, F., Tatton-Brown, K., Thevenon, J., Vigeland, M. D., Vogt, J. & 4 others, Willems, M., Zonana, J., Study, D. D. D. & Smithson, S. F., May 1 2017, In : European Journal of Human Genetics. 25, 5, p. 552-559 8 p.

Research output: Contribution to journalArticle

8 Scopus citations
2016

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto, M., Myung, C., Beirnes, K., Choi, K., Asakura, Y., Bokenkamp, A., Bonneau, D., Brugnara, M., Charrow, J., Colin, E., Davis, A., Deschenes, G., Gentile, M., Giordano, M., Gormley, A. K., Govender, R., Joseph, M., Keller, K., Lerut, E., Levtchenko, E. & 11 others, Massella, L., Mayfield, C., Najafian, B., Parham, D., Spranger, J., Stenzel, P., Yis, U., Yu, Z., Zonana, J., Hendson, G. & Boerkoel, C. F., Nov 5 2016, In : Orphanet journal of rare diseases. 11, 1, p. 1-12 12 p.

Research output: Contribution to journalArticle

6 Scopus citations

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome

Yarbrough, K., Danko, C., Krol, A., Zonana, J. J. & Leitenberger, S., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

3 Scopus citations
2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Rojnueangnit, K., Xie, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott, M. A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C. P., Crenshaw, M., Bartholomew, D. W., Basel, L., Bellus, G., Ben-Shachar, S., Bialer, M. G., Bick, D., Blumberg, B. & 53 others, Cortes, F., David, K. L., Destree, A., Duat-Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I. M., Frydman, M., Gardner, K., Gripp, K. W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B. A., Llano-Rivas, I., Leppig, K., Mcdonald, M., Misra, V. K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro, H., Pivnick, E. K., Powell, C. M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C. P., Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M., Verma, I. C., Wallace, S., Williams, C., Zackai, E., Zonana, J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E. & Messiaen, L., Nov 2015, In : Human mutation. 36, 11, p. 1052-1063 12 p.

Research output: Contribution to journalArticle

58 Scopus citations
2014

Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections

Carlberg, V. M., Lofgren, S. M., Mann, J. A., Austin, J. P., Nolt, D., Shereck, E. B., Davila-Saldana, B., Zonana, J. & Krol, A. L., Nov 1 2014, In : Pediatric dermatology. 31, 6, p. 716-721 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Mullegama, S. V., Rosenfeld, J. A., Orellana, C., Van Bon, B. W. M., Halbach, S., Repnikova, E. A., Brick, L., Li, C., Dupuis, L., Rosello, M., Aradhya, S., Stavropoulos, D. J., Manickam, K., Mitchell, E., Hodge, J. C., Talkowski, M. E., Gusella, J. F., Keller, K., Zonana, J., Schwartz, S. & 7 others, Pyatt, R. E., Waggoner, D. J., Shaffer, L. G., Lin, A. E., De Vries, B. B. A., Mendoza-Londono, R. & Elsea, S. H., Jan 2014, In : European Journal of Human Genetics. 22, 1, p. 57-63 7 p.

Research output: Contribution to journalArticle

21 Scopus citations
2012

Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: The importance of SMARCB1

Chakrapani, A. L., White, C. R., Korcheva, V., White, K., Lofgren, S., Zonana, J., Moore, S., Krol, A. & Mansoor, A., Aug 1 2012, In : American Journal of Dermatopathology. 34, 6, p. e77-e80

Research output: Contribution to journalArticle

5 Scopus citations

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanović, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., Dehaai, K. A., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., Kobelka, C. & 16 others, Kohler, K., Lewis, D. B., Massella, L., Mcleod, D. R., Milford, D. V., Nobili, F., Olney, A. H., Semerci, C. N., Stajić, N., Stein, A., Taque, S., Zonana, J., Lücke, T., Hendson, G., Bonnaure-Mallet, M. & Boerkoel, C. F., Jul 2012, In : Journal of dental research. 91, p. S29-S37

Research output: Contribution to journalArticle

16 Scopus citations

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Mefford, H. C., Rosenfeld, J. A., Shur, N., Slavotinek, A. M., Cox, V. A., Hennekam, R. C., Firth, H. V., Willatt, L., Wheeler, P., Morrow, E. M., Cook, J., Sullivan, R., Oh, A., McDonald, M. T., Zonana, J., Keller, K., Hannibal, M. C., Ball, S., Kussmann, J., Gorski, J. & 10 others, Zelewski, S., Banks, V., Smith, W., Smith, R., Paull, L., Rosenbaum, K. N., Amor, D. J., Silva, J., Lamb, A. & Eichler, E. E., Feb 1 2012, In : Journal of medical genetics. 49, 2, p. 110-118 9 p.

Research output: Contribution to journalArticle

25 Scopus citations

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein

Dauber, A., LaFranchi, S. H., Maliga, Z., Lui, J. C., Moon, J. E., McDeed, C., Henke, K., Zonana, J., Kingman, G. A., Pers, T. H., Baron, J., Rosenfeld, R. G., Hirschhorn, J. N., Harris, M. P. & Hwa, V., Nov 1 2012, In : Journal of Clinical Endocrinology and Metabolism. 97, 11, p. E2140-E2151

Research output: Contribution to journalArticle

37 Scopus citations

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Baradaran-Heravi, A., Cho, K. S., Tolhuis, B., Sanyal, M., Morozova, O., Morimoto, M., Elizondo, L. I., Bridgewater, D., Lubieniecka, J., Beirnes, K., Myung, C., Leung, D., Fam, H. K., Choi, K., Huang, Y., Dionis, K. Y., Zonana, J., Keller, K., Stenzel, P., Mayfield, C. & 7 others, Lücke, T., Bokenkamp, A., Marra, M. A., Van Lohuizen, M., Lewis, D. B., Shaw, C. & Boerkoel, C. F., Jun 1 2012, In : Human molecular genetics. 21, 11, p. 2572-2587 16 p., dds083.

Research output: Contribution to journalArticle

38 Scopus citations

Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto, M., Yu, Z., Stenzel, P., Clewing, J. M., Najafian, B., Mayfield, C., Hendson, G., Weinkauf, J. G., Gormley, A. K., Parham, D. M., Ponniah, U., André, J. L., Asakura, Y., Basiratnia, M., Bogdanović, R., Bokenkamp, A., Bonneau, D., Buck, A., Charrow, J., Cochat, P. & 27 others, Cordeiro, I., Deschenes, G., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Guillen-Navarro, E., Keller, K., Kirmani, S., Kobelka, C., Lamfers, P., Levtchenko, E., Lewis, D. B., Massella, L., McLeod, D. R., Milford, D. V., Nobili, F., Saraiva, J. M., Semerci, C. N., Shoemaker, L., Stajić, N., Stein, A., Taha, D., Wand, D., Zonana, J., Lücke, T. & Boerkoel, C. F., Sep 25 2012, In : Orphanet journal of rare diseases. 7, 1, 70.

Research output: Contribution to journalArticle

18 Scopus citations
2010

Clinical and genetic characterization of manifesting carriers of DMD mutations

Soltanzadeh, P., Friez, M. J., Dunn, D., von Niederhausern, A., Gurvich, O. L., Swoboda, K. J., Sampson, J. B., Pestronk, A., Connolly, A. M., Florence, J. M., Finkel, R. S., Bönnemann, C. G., Medne, L., Mendell, J. R., Mathews, K. D., Wong, B. L., Sussman, M. D., Zonana, J., Kovak, K., Gospe, S. M. & 5 others, Gappmaier, E., Taylor, L. E., Howard, M. T., Weiss, R. B. & Flanigan, K. M., Aug 1 2010, In : Neuromuscular Disorders. 20, 8, p. 499-504 6 p.

Research output: Contribution to journalArticle

87 Scopus citations
2009

Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (workshop II)

Wright, J. T., Morris, C., Clements, S. E., D'Souza, R., Gaide, O., Mikkola, M. & Zonana, J., Sep 1 2009, In : American Journal of Medical Genetics, Part A. 149, 9, p. 2062-2067 6 p.

Research output: Contribution to journalArticle

12 Scopus citations

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Rosenfeld, J. A., Leppig, K., Ballif, B. C., Thiese, H., Erdie-Lalena, C., Bawle, E., Sastry, S., Spence, J. E., Bandholz, A., Surti, U., Zonana, J., Keller, K., Meschino, W., Bejjani, B. A., Torchia, B. S. & Shaffer, L. G., Nov 1 2009, In : Genetics in Medicine. 11, 11, p. 797-805 9 p.

Research output: Contribution to journalArticle

45 Scopus citations
2002

Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations

Orange, J. S., Brodeur, S. R., Jain, A., Bonilla, F. A., Schneider, L. C., Kretschmer, R., Nurko, S., Rasmussen, W. L., Köhler, J. R., Gellis, S. E., Ferguson, B. M., Strominger, J. L., Zonana, J., Ramesh, N., Ballas, Z. K. & Geha, R. S., Jan 1 2002, In : Journal of Clinical Investigation. 109, 11, p. 1501-1509 9 p.

Research output: Contribution to journalArticle

Open Access
167 Scopus citations
2001

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J. & Overbeek, P. A., Dec 20 2001, In : Nature. 414, 6866, p. 913-916 4 p.

Research output: Contribution to journalArticle

260 Scopus citations

Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodysplasin-A

Schneider, P., Street, S. L., Gaide, O., Hertig, S., Tardivel, A., Tschopp, J., Runkel, L., Alevizopoulos, K., Ferguson, B. M. & Zonana, J., Jun 1 2001, In : Journal of Biological Chemistry. 276, 22, p. 18819-18827 9 p.

Research output: Contribution to journalArticle

164 Scopus citations

Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia

Chen, Y., Molloy, S. S., Thomas, L., Gambee, J., Bächinger, H. P., Ferguson, B., Zonana, J., Thomas, G. & Morris, N. P., Jun 19 2001, In : Proceedings of the National Academy of Sciences of the United States of America. 98, 13, p. 7218-7223 6 p.

Research output: Contribution to journalArticle

87 Scopus citations
2000

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

Zonana, J., Elder, M. E., Schneider, L. C., Orlow, S. J., Moss, C., Golabi, M., Shapira, S. K., Farndon, P. A., Wara, D. W., Emmal, S. A. & Ferguson, B. M., Jan 1 2000, In : American Journal of Human Genetics. 67, 6, p. 1555-1562 8 p.

Research output: Contribution to journalArticle

385 Scopus citations

Clouston hidrotic ectodermal dysplasia (HED): Genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

Kibar, Z., Dubé, M. P., Powell, J., McCuaïg, C., Hayflick, S. J., Zonana, J., Hovnanian, A., Radhakrishna, U., Antonarakis, S. E., Benohanian, A., Sheeran, A. D., Stephan, M. L., Gosselin, R., Kelsell, D. P., Christianson, A. L., Clarke Fraser, F., Der Kaloustian, V. M. & Rouleau, G. A., May 1 2000, In : European Journal of Human Genetics. 8, 5, p. 372-380 9 p.

Research output: Contribution to journalArticle

31 Scopus citations

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Lamartine, J., Essenfelder, G. M., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S. J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D. P., Christianson, A. L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G. A. & Waksman, G., Oct 1 2000, In : Nature genetics. 26, 2, p. 142-144 3 p.

Research output: Contribution to journalArticle

197 Scopus citations
1999

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Monreal, A. W., Ferguson, B. M., Headon, D. J., Street, S. L., Overbeek, P. A. & Zonana, J., Aug 1 1999, In : Nature genetics. 22, 4, p. 366-369 4 p.

Research output: Contribution to journalArticle

302 Scopus citations
1998

Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with Evidence for multiple independent mutations

Taylor, T. D., Hayflick, S. J., McKinnon, W., Guttmacher, A. E., Hovnanian, A., Litt, M. & Zonana, J., Jan 1 1998, In : Journal of Investigative Dermatology. 111, 1, p. 83-85 3 p.

Research output: Contribution to journalArticle

17 Scopus citations
164 Scopus citations

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications

Ferguson, B. M., Thomas, N. S. T., Munoz, F., Morgan, D., Clarke, A. & Zonana, J., Jan 1 1998, In : Journal of medical genetics. 35, 2, p. 112-115 4 p.

Research output: Contribution to journalArticle

33 Scopus citations
1997

Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain

Ferguson, B. M., Brockdorff, N., Formstone, E., Ngyuen, T., Kronmiller, J. E. & Zonana, J., Sep 1 1997, In : Human molecular genetics. 6, 9, p. 1589-1594 6 p.

Research output: Contribution to journalArticle

137 Scopus citations

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X- linked disorder

Munoz, F., Lestringant, G., Sybert, V., Frydman, M., Alswaini, A., Frossard, P. M., Jorgenson, R. & Zonana, J., Jul 1997, In : American Journal of Human Genetics. 61, 1, p. 94-100 7 p.

Research output: Contribution to journalArticle

Open Access
56 Scopus citations
1996

Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17

Hayflick, S. J., Taylor, T., McKinnon, W., Guttmacher, A. E., Litt, M. & Zonana, J., Jan 1 1996, In : Journal of Investigative Dermatology. 107, 1, p. 11-14 4 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., De La Chapelle, A. & Schlessinger, D., Aug 1 1996, In : Nature genetics. 13, 4, p. 409-416 8 p.

Research output: Contribution to journalArticle

542 Scopus citations
1995

An atypical case of fragile X syndrome caused by a deletion that includes the FMRI gene

Quan, F., Zonana, J., Gunter, K., Peterson, K. L., Magenis, R. E. & Popovich, B. W., Jan 1 1995, In : American Journal of Human Genetics. 56, 5, p. 1042-1051 10 p.

Research output: Contribution to journalArticle

44 Scopus citations

Craniofacial conodysplasia

Beals, R. K., Piatt, J. H. & Zonana, J., Jan 1 1995, In : Journal of Pediatric Orthopaedics. 15, 5, p. 633-636 4 p.

Research output: Contribution to journalArticle

4 Scopus citations
1994

Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia

Zonana, J., Jones, M., Clarke, A., Gault, J., Muller, B. & Thomas, N. S. T., Apr 1 1994, In : Journal of medical genetics. 31, 4, p. 287-292 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

Nickel, R. E., Pillers, D. A. M., Merkens, M., Magenis, R. E., Driscoll, D. A., Emanuel, B. S. & Zonana, J., Jan 1 1994, In : American Journal of Medical Genetics. 52, 4, p. 445-449 5 p.

Research output: Contribution to journalArticle

46 Scopus citations
1993

Characterisation of molecular DNA rearrangements within the Xq12 - q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)

Thomas, N. S. T., Chelly, J., Zonana, J., Davies, K. J. P., Morgan, S., Gault, J., Rack, K. A., Buckle, V. J., Brockdorff, N., Clare, A. & Monaco, A., Oct 1 1993, In : Human molecular genetics. 2, 10, p. 1679-1685 7 p.

Research output: Contribution to journalArticle

13 Scopus citations

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome

Ladda, R. L., Zonana, J., Ramer, J. C., Mascari, M. J. & Rogan, P. K., Jan 1 1993, In : American Journal of Medical Genetics. 47, 4, p. 550-555 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Detection of a molecular deletion at the DXS732 locus in a patient with X- linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment

Zonana, J., Gault, J., Davies, K. J. P., Jones, M., Browne, D., Litt, M., Brockdorff, N., Rastan, S., Clarke, A. & Thomas, N. S. T., Jan 1 1993, In : American Journal of Human Genetics. 52, 1, p. 78-84 7 p.

Research output: Contribution to journalArticle

29 Scopus citations

HEPATOCELLULAR CARCINOMA IN ARTERIOHEPATIC DYSPLASIA

Keeffe, E. B., Pinson, C. W., Ragsdale, J. & Zonana, J., Sep 1993, In : The American journal of gastroenterology. 88, 9, p. 1446-1449 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

Searching for Human Epilepsy Genes: A Progress Report

Leppert, M., McMahon, W. M., Quattlebaum, T. G., Bjerre, I., Zonana, J., Shevell, M. I., Andermann, E., Rosales, T. O., Ronen, G. M., Connolly, M. & Anderson, V. E., Oct 1993, In : Brain Pathology. 3, 4, p. 357-369 13 p.

Research output: Contribution to journalArticle

15 Scopus citations

Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region

Nickel, R. E., Pillers, D. M., Merkens, M., Magenis, R. E., Driscoll, D. A., Emanuel, B. S. & Zonana, J., Dec 1 1993, In : European Journal of Pediatric Surgery. 3, SUPPL. 1, p. 27-28 2 p.

Research output: Contribution to journalArticle

5 Scopus citations
1992

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

Driscoll, D. A., Spinner, N. B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., Goldberg, R. B., Shprintzen, R. J., Saal, H. M., Zonana, J., Jones, M. C., Mascarello, J. T. & Emanuel, B. S., Jan 1 1992, In : American Journal of Medical Genetics. 44, 2, p. 261-268 8 p.

Research output: Contribution to journalArticle

308 Scopus citations

High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus

Zonana, J., Jones, M., Browne, D., Litt, M., Kramer, P., Becker, H. W., Brockdorff, N., Rastan, S., Davies, K. P., Clarke, A. & Thomas, N. S. T., Jan 1 1992, In : American Journal of Human Genetics. 51, 5, p. 1036-1046 11 p.

Research output: Contribution to journalArticle

33 Scopus citations
1990

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

Magenis, R. E., Toth-Fejel, S., Allen, L. J., Black, M., Brown, M. G., Budden, S., Cohen, R., Friedman, J. M., Kalousek, D., Zonana, J., Lacy, D., LaFranchi, S., Lahr, M., Macfarlane, J. & Williams, C. P. S., Jan 1 1990, In : American Journal of Medical Genetics. 35, 3, p. 333-349 17 p.

Research output: Contribution to journalArticle

135 Scopus citations

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

Godfrey, M., Menashe, V., Weleber, R. G., Koler, R. D., Bigley, R. H., Lovrien, E., Zonana, J. & Hollister, D. W., Apr 18 1990, In : American Journal of Human Genetics. 46, 4, p. 652-660 9 p.

Research output: Contribution to journalArticle

61 Scopus citations

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis

Zonana, J., Schinzel, A., Upadhyaya, M., Thomas, N. S. T., Anton-Lamprecht, I. & Harper, P. S., Jan 22 1990, In : American Journal of Medical Genetics. 35, 1, p. 132-135 4 p.

Research output: Contribution to journalArticle

15 Scopus citations

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

Wardinsky, T. D., Pagon, R. A., Powell, B. R., McGillivray, B., Stephan, M., Zonana, J. & Moser, A., Aug 1990, In : Clinical Genetics. 38, 2, p. 84-93 10 p.

Research output: Contribution to journalArticle

44 Scopus citations
1989

Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis

Zonana, J., Sarfarazi, M., Thomas, N. S. T., Clarke, A., Marymee, K. & Harper, P. S., Mar 1989, In : The Journal of pediatrics. 114, 3, p. 392-399 8 p.

Research output: Contribution to journalArticle

3 Scopus citations
1988

Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

Magenis, R. E., Sheehy, R. R., Brown, M. G., McDermid, H. E., White, B. N., Zonana, J. & Weleber, R., Jan 1 1988, In : American Journal of Medical Genetics. 29, 1, p. 9-19 11 p.

Research output: Contribution to journalArticle

20 Scopus citations

Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation

Zonana, J., Roberts, S. H., Thomas, N. S. T. & Harper, P. S., Jan 1 1988, In : Journal of medical genetics. 25, 6, p. 383-386 4 p.

Research output: Contribution to journalArticle

30 Scopus citations