Superlink Snp - Success Stories Updater

Some successful usages of Superlink and Superlink-online

125.	Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. M. Hashim Raza, E. Michael Gertz, Jennifer Mundorff, Joseph Lukong, Judith Kuster, Alejandro A. Schäffer, Dennis Drayna. Human Genetics, 132(4): 385--396, 2013
124.	Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia. Satya R. Vemula, Andreas Puschmann, Jianfeng Xiao, Yu Zhao, Monika Rudziñska, Karen P. Frei, Daniel D. Truong, Zbigniew K. Wszolek and Mark S. LeDoux. Human Molecular Genetics, 22(12): 2510-2519, 2013
123.	Altered Subcellular Localization of Heat Shock Protein 90 Is Associated with Impaired Expression of the Aryl Hydrocarbon Receptor Pathway in Dogs. Frank G. van Steenbeek, Bart Spee, Louis C. Penning, Anne Kummeling, Ingrid H. M. van Gils, Guy C. M. Grinwis, Dik Van Leenen, Frank C. P. Holstege, Manon Vos-Loohuis, Jan Rothuizen, Peter A. J. Leegwater. PloS one, 8(3): e57973, 2013
122.	Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Ji Kwon Park, Lisa J. Martin, Xue Zhang, Anil G. Jegga, D. Woodrow Benson. Heart Rhythm, 9(7): 1090-1096, 2012
121.	Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss. Nasrin Yazdanpanahi, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar, Zahra Noormohammadi, Effat Farrokhi, Hossein Najmabadi, Shirin Shahbazi, Azam Hosseinipour. International Journal of Pediatric Otorhinolaryngology, 76(6): 845-850, 2012
120.	Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C. Hila Romi, Idan Cohen, Daniella Landau, Suliman Alkrinawi, Baruch Yerushalmi, Reli Hershkovitz, Nitza Newman-Heiman, Garry R. Cutting, Rivka Ofir, Sara Sivan, Ohad S. Birk. The American Journal of Human Genetic, 90(5): 893-899, 2012
119.	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation. Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon-Brauch, Jouni Uitto, Mia Horowitz, Stavit Shalev, Eli Sprecher. The American Journal of Human Genetics, 91(2): 337-342, 2012
118.	Detection of Phenotype Modifier Genes Using Two-Locus Linkage Analysis in Complex Disorders Such as Major Psychosis. Alexandre Bureau, Jordie Croteau, Chantal Mérette, Alain Fourniera, Yvon C. Chagnon, Marc-André Roy, Michel Maziade. Human Heredity, 73(4): 195--207, 2012
117.	The phenotype of human STK4 deficiency. Hengameh Abdollahpour, Giridharan Appaswamy, Daniel Kotlarz, Jana Diestelhorst, Rita Beier, Alejandro A. Schäffer, E. Michael Gertz, Axel Schambach, Hans H. Kreipe, Dietmar Pfeifer, Karin R. Engelhardt, Nima Rezaei, Bodo Grimbacher, Sabine Lohrmann, Roya Sherkat, Christoph Klein. Blood, 119(15): 3450--3457, 2012
116.	Symptom dimensions as alternative phenotypes to address genetic heterogeneity in schizophrenia and bipolar disorder. Aurélie Labbe, Alexandre Bureau, Isabel Moreau, Marc-André Roy, Yvon Chagnon, Michel Maziade and Chantal Merette. European Journal of Human Genetics, 2012
115.	Specifying and Sustaining Pigmentation Patterns in Domestic and Wild Cats. Christopher B. Kaelin, Xiao Xu, Lewis Z. Hong, Victor A. David, Kelly A. McGowan, Anne Schmidt-Küntzel3, Melody E. Roelke3, Javier Pino, Joan Pontius3, Gregory M. Cooper, Hermogenes Manuel, William F. Swanson, Laurie Marker, Cindy K. Harper, Ann van Dyk, Bisong Yue, James C. Mullikin, Wesley C. Warren, Eduardo Eizirik, Lidia Kos, Stephen J. O'Brien, Gregory S. Barsh, Marilyn Menotti-Raymond. Science, 337(6101): 1536-1541, 2012
114.	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Catherine Boileau, Dong-Chuan Guo, Nadine Hanna, Ellen S Regalado, Delphine Detaint, Limin Gong, Mathilde Varret, Siddharth K Prakash, Alexander H Li, Hyacintha d'Indy, Alan C Braverman, Bernard Grandchamp, Callie S Kwartler, Laurent Gouya, Regie Lyn P Santos-Cortez, Marianne Abifadel, Suzanne M Leal, Christine Muti, Jay Shendure, Marie-Sylvie Gross, Mark J Rieder, Alec Vahanian, Deborah A Nickerson, Jean Baptiste Michel, National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Guillaume Jondeau & Dianna M Milewicz. Nature Genetics, 44(8), 916–921, 2012
113.	Microcephaly-Thin Corpus Callosum Syndrome Maps to 8q23.2-q24.12. Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, Shlomit Helman, Adi Har-Zahav, Efrat Birk, Idit Maya, Liora Kornreich, Dov Inbar, Gudrun Nürnberg, Peter Nürnberg, Tamar Steinberg, Rachel Straussberg. Pediatric Neurology, 46(6):363-368, 2012
112.	Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14. Dana Fuchs-Telem, Ofer Sarig, Maurice A.M. van Steensel, Ofer Isakov, Shirli Israeli, Janna Nousbeck, Katharina Richard, Veronique Winnepenninckx, Marigje Vernooij, Noam Shomron, Jouni Uitto, Philip Fleckman, Gabriele Richard, Eli Sprecher. The American Journal of Human Genetics, 2012
111.	Familial cortical myoclonus with a mutation in NOL3. J. Russell, J. Steckley, G. Coppola, A. Hahn, M. Howard, Z. Kornberg, A. Huang, S. Mirsattari, B. Merriman, E. Klein, M. Choi, H. Lee, Hsien-Yang and A. Kirk, C. Nelson-Williams, G. Gibson, S. Baraban, R. Lifton, D. Geschwind, Y. Fu, L. Ptáček. Annals of Neurology, 2012
110.	Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q. Muhammad Hashim Raza, Rana Amjad, Sheikh Riazuddin and Dennis Drayna. Human Genetics, 131(2):311-313, 2012
109.	A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai. Journal of Medical Genetics, 2012
108.	Oxytocin and vasopressin genes are significantly associated with schizophrenia in a large Arab-Israeli pedigree. Omri Teltsha, Kyra Kanyas-Sarnera, Amihai Rigbia, Lior Greenbauma, Bernard Lerera and Yoav Kohna. The International Journal of Neuropsychopharmacology, 15(3):309-313, 2012
107.	Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment. M. Schraders, S. Haas, N. Weegerink, J. Oostrik, H. Hu, L. Hoefsloot, S. Kannan, P. Huygen, R. Penningsand R. Admiraal, V. Kalscheuer, H. Kunst, H. Kremer. The American Journal of Human Genetics, 88(5):628 - 634, 2011
106.	A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia. Janna Nousbeck, Bettina Burger, Dana Fuchs-Telem, Mor Pavlovsky, Shlomit Fenig, Ofer Sarig, Peter Itin, Eli Sprecher. The American Journal of Human Genetics, 89(2):302-307, 2011
105.	The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. J. Zolotushko, H. Flusser, B. Markus, I. Shelef, Y. Langer, M. Heverin, I. Björkhem, S. Sivan, O. S. Birk. European Journal of Human Genetics, 19:942-946, 2011
104.	Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. E. Muhammad, N. Leventhal, G. Parvari, A. Hanukoglu, I. Hanukoglu, V. Chalifa-Caspi, Y. Feinstein, J. Weinbrand, H. Jacoby, E. Manor, T. Nagar, J. Beck, V. Sheffield, E. Hershkovitz, R. Parvari. Human Genetics, 129(4):397-405, 2011
103.	Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1. M. Mazor, S. Alkrinawi, V. Chalifa-Caspi, E. Manor, V. C. Sheffield, M. Aviram, R. Parvari. The American Journal of Human Genetics, 88(5):599-607, 2011
102.	A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. V. Carelli, S. Schimpf, N. Fuhrmann, M. Lucia Valentino, C. Zanna, L. Iommarini, M. Papke, S. Schaich, S. Tippmann, B. Baumann, P. Barboni, L. Longanesi, M. Rugolo, A. Ghelli, M. V. Alavi, R. J. Youle, L. Bucchi, R. Carroccia, M. Pia Giannoccaro, C. Tonon, R. Lodi, G. Cenacchi, P. Montagna, R. Liguori, B. Wissinger. Human Molecular Genetics, 20(10):1893-1905, 2011
101.	A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis. S. Israeli, Z. Khamaysi, D. Fuchs-Telem, J. Nousbeck, R. Bergman, O. Sarig, E. Sprecher. The American Journal of Human Genetics, 88(4):482-487, 2011
100.	A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. G. Manes, M. Hebrard, B. Bocquet, I. Meunier, D. Coustes-Chazalette, A. Sénéchal, A. Bolland-Augé, D. Zelenika, C. P. Hamel. BMC Medical Genetics, 12(1):54, 2011
99.	Genetic Heterogeneity for Recessively Inherited Congenital Cataract Microcornea with Corneal Opacity. K. Khan, A. Al-Maskari, M. McKibbin, I. M. Carr, A. Booth, M. Mohamed, S. Siddiqui, J. A. Poulter, D. A. Parry, C. V. Logan, A. Hashmi, T. Sahi, H. Jafri, Y. Raashid, C. A. Johnson, A. F. Markham, C. Toomes, A. Rice, E. Sheridan, C. F. Inglehearn, Manir Ali. Investigative Ophthalmology & Visual Science, 52(7), 2011
98.	A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. S. Khan, S. Basit, F.K. Zimri, N. Ali, G. Ali, M. Ansar, W. Ahmad. Clinical Genetics, 2011
97.	Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1). M. Jelani, M. S. Chishti, W. Ahmad. Journal of Human Genetics, 56(5):352-357, 2011
96.	Identification of a Mutation Associated with Fatal Foal Immunodeficiency Syndrome in the Fell and Dales Pony. L. Y. Fox-Clipsham, S. D. Carter, I. Goodhead, N. Hall, D. C. Knottenbelt, P. D. F. May, W. E. Ollier, J. E. Swinburne. PLoS Genetics, 7(7):e1002133, 2011
95.	Mapping of the Disease Locus and Identification of ADAMTS10 As a Candidate Gene in a Canine Model of Primary Open Angle Glaucoma. J. Kuchtey, L. M. Olson, T. Rinkoski, E. O. MacKay, T. M. Iverson, K. N. Gelatt, J. L. Haines, R. W. Kuchtey. PLoS Genetics, 7(2):e1001306, 2011
94.	Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. J. A. Rosenfeld, J. Milisa Drautz, C. L. Clericuzio, T. Cushing, S. Raskin, J. Martin, R. C. Tervo, J. A. Pitarque, D. M. Nowak, J. A. Karolak, A. N. Lamb, R. A. Schultz, B. C. Ballif, B. A. Bejjani, M. Gajecka, Lisa G. Shaffer. American Journal of Medical Genetics Part A, 155(8):1906-1916, 2011
93.	Novel Splice Mutation in Microthalmia-Associated Transcription Factor in Waardenburg Syndrome. L. Brenner, K. Burke, C. A. LeDuc, S. Guha, J. Guo, W. K. Chung. Genetic Testing and Molecular Biomarkers. July/August 2011, 15(7-8): 525-529, 2011
92.	A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. J. R. Shearman, A. N. Wilton. BMC Genomics, 12(11):258, 2011
91.	Mapping cerebellar abiotrophy in Australian Kelpies. J. R. Shearman, R. W. Cook, C. McCowan, J. L. Fletcher, R. M. Taylor, A. N. Wilton. Animal Genetics, 2011
90.	Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. G. Maydan, I. Noyman, A. Har-Zahav, Z. Ben Neriah, M. Pasmanik-Chor, A. Yeheskel, A. Albin-Kaplanski, I. Maya, N. Magal, E. Birk, A. J Simon, A. Halevy, G. Rechavi, M. Shohat, R. Straussberg, L. Basel-Vanagaite. Journal of Medical Genetics, 48(6):383-389, 2011
89.	A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. J. C. Fyfe, R. A. Al-Tamimi, J. Liu, A. A. Schäffer, R. Agarwala, P. S. Henthorn. Neurogenetics, 1-10, 2011
88.	Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex. R. Kaufmann, R. Straussberg, H. Mandel, A. Fattal-Valevski, B. Ben-Zeev, A. Naamati, A. Shaag, S. Zenvirt, O. Konen, A. Mimouni-Bloch, William B. Dobyns, Simon Edvardson, O. Pines, O. Elpeleg. The American Journal of Human Genetics, 87(5):667-670, 2010
87.	Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII. M. Feldshtein, S. Elkrinawi, B. Yerushalmi, B. Marcus, D. Vullo, H. Romi, R. Ofir, D. Landau, S. Sivan, C. T. Supuran, O. S. Birk. The American Journal of Human Genetics, 87(5):713-720, 2010
86.	Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation. M. Feinstein, B. Markus, I. Noyman, H. Shalev, H. Flusser, I. Shelef, K. Liani-Leibson, Z. Shorer, I. Cohen, S. Khateeb, S. Sivan, O. S. Birk. The American Journal of Human Genetics, 87(6):820-828, 2010
85.	Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. M. Gunay-Aygun, Y. Zivony-Elboum, F. Gumruk, D. Geiger, M. Cetin, M. Khayat, R. Kleta, N. Kfir, Y. Anikster, J. Chezar, M. Arcos-Burgos, A. Shalata, H. Stanescu, J. Manaster, M. Arat, H. Edwards, A. S. Freiberg, P. Suzanne Hart, L. C. Riney, K. Patzel, P. Tanpaiboon, T. Markello, M. Huizing, I. Maric, M. Horne, B. E. Kehrel, K. Jurk, N. F. Hansen, P. F. Cherukuri11, M. Jones, P. Cruz, J. C. Mullikin, A. Nurden, J. G. White, W. A. Gahl, T. Falik-Zaccai. Blood, 116(23):4990-5001, 2010
84.	SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System . E. Birk, A. Har-Zahav, C. M. Manzini, M. Pasmanik-Chor, L. Kornreich, C. A. Walsh, K. Noben-Trauth, A. Albin, A. J. Simon, L. Colleaux, Y. Morad, L. Rainshtein, D. J. Tischfield, P. Wang, N. Magal, I. Maya, N. Shoshani, G. Rechavi, D. Gothelf, G. Maydan, M. Shohat, L. Basel-Vanagaite. The American Journal of Human Genetics, 87(5):694-700, 2010
83.	A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss. A. Sırmacı, S. Erbek, J. Price, M. Huang, D. Duman, F. B. Cengiz, G. Bademci, S. Tokgöz-Yılmaz, B. Hismi, H. Özdağ, B. Öztürk, S. Kulaksızoğlu, E. Yıldırım, H. Kokotas, M. Grigoriadou, M. B. Petersen, H. Shahin, M. Kanaan, M. King, Z. Chen, S. H. Blanton, X. Z. Liu, S. Zuchner, N. Akar, M. Tekin. The American Journal of Human Genetics, 86(5):797-804, 2010
82.	Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene. L Volpi, G. Roversi, E. A. Colombo, N. Leijsten, D. Concolino, A. Calabria, M. A. Mencarelli, M. Fimiani, F. Macciardi, R. Pfundt, E. F.P.M. Schoenmakers, L. Larizza. The American Journal of Human Genetics, 86(1):72-76, 2010
81.	Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing. K. M. Summers, N. J. Bokil, F. T. Lu, J. T. Low, H. M. Baisden, D. Duffy, D. J. Radford. American Journal of Medical Genetics. Part A., 152A(3):613-621, 2010
80.	A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. M. Brooks , K. Etter, J. Catalfamo, A. Brisbin, C. Bustamante and J. Mezey. Gene, 450(1-2):70-75, 2010
79.	Mutation Discovered in a Feline Model of Human Congenital Retinal Blinding Disease. M. Menotti-Raymond, K. H. Deckman, V. David, J. Myrkalo, S. J. O'Brien, K. Narfström. Investigative Ophthalmology and Visual Science. 51(6):2852-2859, 2010
78.	Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome). E. Meyer, C. Ricketts, N. V. Morgan, M. R. Morris, S. Pasha, L. J. Tee, F. Rahman, A. Bazin, B. BessiÃ¨res, P. DÃ©chelotte, M. T. Yacoubi, M. Al-Adnani, T. Marton, D. Tannahill, R. C. Trembath, C. Fallet-Bianco, P. Cox, D. Williams and E.R. Maher. American Journal of Human Genetics, 86(3):471-478, 2010
77.	Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a <3.5 Megabase Pair Region on Chromosome 19q13.3. M. A. Nesbit, F. M. Hannan, U. Graham, M. P. Whyte, P. J. Morrison, S. J. Hunter and R. V. Thakker. The Journal of Clinical Endocrinology & Metabolism, 95(4):1947-1954, 2010
76.	Mammary-digital-nail (MDN) syndrome: A novel phenotype maps to human chromosome 22q12.3-13.1. M. Genzer-Nir, M. Khayat, L. Kogan, H.I. Cohen, M. Hershkowitz, D. Geiger , T.C. Falik-Zaccai. European Journal of Human Genetics, 18(6):662-667, 2010
75.	Defining and Mapping Mammalian Coat Pattern Genes: Multiple Genomic Regions Implicated in Domestic Cat Stripes and Spots. E. Eizirik, V.A. David, V. Buckley-Beason, M.E. Roelke, A.A. Schäffer, S.S. Hannah, K. Narfström, S.J. O'Brien, M. Menotti-Raymond. Genetics, 184(1):267-275, 2010
74.	A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis. S.A.U. Iseri, Y. K. Durlu and A. Tolun. European Journal of Human Genetics, 18(10):1121-1126, 2010
73.	A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. A. Marques-Pinheiro, M. Marduel, J.P. Rabès, M. Devillers, L. Villéger, D. Allard, J. Weissenbach, M. Guerin, Y. Zair, D. Erlich, C. Junien, A. Munnich, M. Krempf, M. Abifadel, J.P. Jaïs, The French Research Network on ADH, C. Boileau and M. Varret. European Journal of Human Genetics, 18(11):1236-1242, 2010
72.	Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene. V. Levy-Litan, E. Hershkovitz, L. Avizov, N. Leventhal, D. Bercovich, V. Chalifa-Caspi, E. Manor, S. Buriakovsky, Yair Hadad, James Godin, R. Parvari. American Journal of Human Genetics, 86(2):273-278, 2010
71.	Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. M. Azam, R.W.J. Collin, S.T.A. Shah, A.A. Shah, M.I. Khan, A. Hussain, A. Sadeque, T.M. Strom, A.A.H.J. Thiadens, S. Roosing, A.I. den Hollander, F.P.M. Cremers, R. Qamar. Molecular Vision, 16:774-781, 2010
70.	Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. R. Kropatsch, E. Petrasch-Parwez, D. Seelow, A. Schlichting, W.M. Gerding, D.A. Akkad, J.T. Epplen, G. Dekomien. Molecular and Cellular Probes, 24(6):357-363, 2010
69.	Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes. S. Basit, G. Ali, N. Wasif, M. Ansar, W. Ahmad. Human Genetics, 128(2):213-220, 2010
68.	Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss. F. Spaans, C. G. Faber, H. J. M. Smeets, P. A. M. Hofman, C. Braida, D. G. Monckton, C. E. M. de Die-Smulders. Journal of Neurology, Neurosurgery & Psychiatry, 80(9):1029-1035, 2009
67.	A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. A. Sırmacı, H. Öztürkmen-Akay, S. Erbek, A. İncesulu, D. Duman, S. Taşır-Yılmaz, H. Özdağ, M. Tekin. Clinical Genetics, 75(6):562-567, 2009
66.	Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping. L. Benayoun, R. Spiegel, N. Auslender, A. H Abbasi, L. Rizel, Y. Hujeirat, I. Salama, H. J. Garzozi, S. Allon-Shalev, T. Ben-Yosef. American Journal of Medical Genetics Part A, 149A(4):650-656, 2009
65.	Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations. A. Sırmacıa, D. Dumana, H. Öztürkmen-Akayb, S. Erbekc, A. İncesulud, B. Öztürk-Hişmia, Z. S. Arıcıa, E. B. Yüksel-Konuka, S. Taşır-Yılmaze, S. Tokgöz-Yılmazf, F. B. Cengiza, İ. Aslana, M. Yıldırımg, A. Hasanefendioğlu-Bayrakb, A. Ayçiçekh, İ. Yılmazi, S. Fitozj, F. Altınk, H. Özdağe, M. Tekin. International Journal of Pediatric Otorhinolaryngology, 73(5):699-705, 2009
64.	Genetic Linkage Localizes an Adolescent Idiopathic Scoliosis and Pectus Excavatum Gene to the 18q Chromosome. C. A. Gurnett, F. Alaee, A. Bowcock, L. Kruse, L. G. Lenke, K. H. Bridwell, T. Kuklo, S. J. Luhmann, M. B. Dobbs. Spine, 34(2):94-100, 2009
63.	OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin. K. L.M. Coene, R. Roepman, D. Doherty, B. Afroze, H. Y. Kroes, S. J.F. Letteboer, L. H. Ngu, B. Budny, E. van Wijk, N. T. Gorden, M. Azhimi, C. Thauvin-Robinet, J. A. Veltman, M. Boink, T. Kleefstra, F. P.M. Cremers, H. van Bokhoven, A. P.M. de Brouwer. The American Journal of Human Genetics, 85(5):465-481, 2009
62.	A Domestic cat X Chromosome Linkage Map and the Sex-Linked orange Locus: Mapping of orange, Multiple Origins and Epistasis Over nonagouti. A. Schmidt-Küntzel, G. Nelson, V. A. David, A. A. Schäffer, E. Eizirik, M. E. Roelke, J. S. Kehler, S. S. Hannah, S. J. O'Brien, M. Menotti-Raymond. Genetics, 181(4):1415-1425, 2009
61.	Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene. E. Shteyer, A. Saada, A. Shaag, F. Aziz Al-Hijawi, R. Kidess, S. Revel-Vilk, and O. Elpeleg. American Journal of Human Genetics, 84(3):412-7, 2009
60.	Genotypic characterization of microsatellite markers and broiler and layer selected chicken lines and their reciprocal F1s. Millor Fernandes do RosÃ¡rio, MÃ´nica CorrÃªa Ledur2, Ana Silvia Alves Meira Tavares Moura,Luiz Lehmann Coutinho, Antonio Augusto Franco Garcia. Sci. Agric. (Piracicaba, Braz.), 66(2):150-158, 2009
59.	Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene. P. Renbaum, E. Kellerman, R. Jaron, D. Geiger, R. Segel, M. Lee, M. C. King and E. Levy-Lahad. American Journal of Human Genetics, 85(2):281-289, 2009
58.	TRPM7 is not associated with amyotrophic lateral sclerosis parkinsonism dementia complex in the Kii peninsula of Japan. K. Hara, Y. Kokubo, H. Ishiura, Y. Fukuda, A. Miyashita, R. Kuwano, R. Sasaki, J. Goto, M. Nishizawa, S. Kuzuhara, S. Tsuji. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B(1):310-313, 2009
57.	A novel syndrome with congenital neutropenia caused by mutations in G6PC3. K. Boztug, G. Appaswamy, A. Ashikov, A.A. Schäffer, U. Salzer, J. Diestelhorst, M. Germeshausen, G. Brandes, J. Lee-Gossler, F. Noyan, A.K. Gatzke, M. Minkov, J. Greil, C. Kratz, T. Petropoulou, I. Pellier, C. Bellanne-Chantelot, N. Rezaei, K. Monkemoller, N. Irani-Hakimeh, H. Bakker, R. Gerardy-Schahn, C. Zeidler, B. Grimbacher, K. Welte, C. Klein. The New England journal of medicine, 360(1):32-43, 2009
56.	A novel locus for adolescent idiopathic scoliosis on chromosome 12p. C.L. Raggio, P.F. Giampietro, S. Dobrin, C. Zhao, D. Dorshorst, N. Ghebranious, J.L. Weber, R.D. Blank. Journal of Orthopaedic Research, 27(10):1366 - 1372, 2009
55.	Mapping of the Domestic Cat "SILVER" Coat Color Locus Identifies a Unique Genomic Location for Silver in Mammals. M. Menotti-Raymond, V. A. David, E. Eizirik, M. E. Roelke, H. Ghaffari, S. J. O'Brien. Journal of Heredity, 100(1):8-13, 2009
54.	An autosomal genetic linkage map of the domestic cat, Felis silvestris catus. M. Menotti-Raymond, V.A. David, A.A. Schäffer, J.F. Tomlin, E. Eizirik, C. Phillip, D. Wells, J.U. Pontius, S.S. Hannah, S.J. O'Brien. Genomics, 93(4):305-313, 2009
53.	A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections. E.O. Glocker, M.D., A. Hennigs, M. Nabavi, M.D., A.A. Schäffer, Ph.D., C. Woellner, M.Sc., U. Salzer, M.D., D. Pfeifer, Ph.D., H. Veelken, M.D., K. Warnatz, M.D., F. Tahami, M.Sc., S. Jamal, M.Sc., A. Manguiat, M.Sc., N. Rezaei, M.D., A.A. Amirzargar, M.D., A. Plebani, M.D., N. Hannesschlager, B.Sc., O. Gross, Ph.D., J. Ruland, M.D., B. Grimbacher, M.D. The New England Journal of Medicine, 361(18):1727-1735, 2009
52.	Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle. J. Buitkamp, C. Kühn, J. Semmer, K.-U. Götz. Animal Genetics, 40(6):894-899, 2009
51.	Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by Vitamin D deficiency and can be associated with renal calcifications. B. Kremke1, C. Bergwitz, W. Ahrens, S. Schütt, M. Schumacher, V. Wagner, P.M. Holterhus, H. Jüppner, O. Hiort. Experimental and Clinical Endocrinology and Diabetes, 117(2):49-56, 2009
50.	Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3. M.S. Chishti, K. Lee, M.-L. McDonald, M.J. Hassan, M. Ansar, W. Ahmad, S.M. Leal. Journal of Human Genetics, 54(3):141-144, 2009
49.	Association of LOXL1 gene with Finnish exfoliation syndrome patients. S. Lemmelä, E. Forsman, P. Onkamo, H. Nurmi, H. Laivuori, T. Kivelä, P. Puska, M. Heger, A. Eriksson, H. Forsius, Irma Järvelä. Journal of Human Genetics, 54:289-297, 2009
48.	Evidence for an interaction of schizophrenia susceptibility loci on chromosome 6q23.3 and 10q24.33–q26.13 in Arab Israeli families. A. Alkelai, Y. Kohn, T. Olender, K. Sarner-Kanyas, A. Rigbi, A. Hamdan, E. Ben-Asher, D. Lancet, B. Lerer. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 150B(7):914-925, 2009
47.	Haplotype sharing excludes canine orthologous Filaggrin locus in atopy in West Highland White Terriers. J. Barros Roque, C. A. O'Leary, M. Kyaw-Tanner, M. Latter, K. Mason, M Shipstone, L Vogelnest, D.L. Duffy. Animal Genetics, 40(5):793-794, 2009
46.	Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. U. Dursun, C. Koroglu, E.K. Orhan, S.A. Ugur, A. Tolun. Neurogenetics, 10(4): 325-331, 2009
45.	Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. M. B. Brooks, J. L. Catalfamo, K. Etter, A. Brisbin, C. D. Bustamante. Journal of Thrombosis and Haemostasis, 2008
44.	Evaluation of the Serotonergic Genes htr1A, htr1B, htr2A, and slc6A4 in Aggressive Behavior of Golden Retriever Dogs. L. Berg, M. Vos-Loohuis, M. B. H. Schilder, B. A. Oost, H. A. W. Hazewinkel, C. M. Wade, E. K. Karlsson, K. Lindblad-Toh, A. E. Liinamo, P. A. J. Leegwater. Behavior Genetics, 38(1):55-66, 2008
43.	Linkage Analysis in a Large Family from Pakistan with Depression and a High Incidence of Consanguineous Marriages. M. Ayub, M. Irfanc, A. Macleanb, F. Naeemd, S. MacGregore, P.M. Visschere, W. Muirb, D. Blackwoodb. Human Heredity, 66(3):190-198, 2008
42.	Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis. J. Nousbeck, R. Spiegel, A. Ishida-Yamamoto, M. Indelman, A. Shani-Adir, N. Adir, E. Lipkin, S. Bercovici, D. Geiger, M.A. van Steensel, P.M. Steijlen, R. Bergman, A. Bindereif, M. Choder, S. Shalev, E.Sprecher. The American Journal of Human Genetics, 82(5):1114-1121, 2008
41.	Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy. D. Magen, C. Georgopoulos, P. Bross, D. Ang, Y. Segev, D. Goldsher, A. Nemirovski, E. Shahar, S. Ravid, A. Luder, B. Heno, R. Gershoni-Baruch, K. Skorecki, H. Mandel. The American Journal of Human Genetics, 83(1):30-42, 2008
40.	A new locus for otosclerosis, OTSC8 , maps to the pericentromeric region of chromosome 9. I.B.H. Ali, M. Thys, N. Beltaief, I. Schrauwen, N. Hilgert, K. Vanderstraeten, N. Dieltjens, E. Mnif, S. Hachicha, G. Besbes. Human Genetics, 123(3):267-272, 2008
39.	Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ. O. Barel, Z. Shorer, H. Flusser, R. Ofir, G. Narkis, G. Finer, H. Shalev, A. Nasasra, A. Saada, O.S. Birk. American Journal of Human Genetics, 82(5):1211-1216, 2008
38.	Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9. O. Barel, S.A. Shalev, R. Ofir, A. Cohen, J. Zlotogora, Z. Shorer, G. Mazor, G. Finer, S. Khateeb, N. Zilberberg, O.S. Birk. American Journal of Human Genetics, 83(2):193-199, 2008
37.	The Slick Hair Coat Locus Maps to Bovine Chromosome 20 in Senepol Derived Cattle. M. Mariasegaram, C. C. Chase Jr, J. X. Chaparro, T. A. Olson, R. A. Brenneman, R. P. Niedz. Anim Genet, 38, 2007
36.	Homozygous CRYBB1 Deletion Mutation Underlies Autosomal Recessive Congenital Cataract. Cohen, D., Bar-Yosef, U., Levy, J., Gradstein, L., Belfair, N., Ofir, R., Joshua, S., Lifshitz, T., Carmi, R., Birk, O. S. Investigative Ophthalmology and Visual Science(IOVS), 48:2208-2213, 2007
35.	Familial Steroid Sensitive Nephrotic Syndrome in Southern Israel: clinical and genetic observations. D. Landau, T. Oved, D. Geiger, H. Shalev, R. Parvari. Pediatric Nephrology, 22(5):661-669, 2007
34.	Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia. M. Tekin, B. Hismi, S. Fitoz, H. Ozdag, F. Cengiz, A. Sirmaci, I. Aslan, B. Inceoglu, E. Yuksel-Konuk, S. Yilmaz, O. Yasun, N. Akar. American Journal of Human Genetics, 80, 2007
33.	Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase. L. Basel-Vanagaite, R. Attia, A. Ishida-Yamamoto, L. Rainshtein, D. Ben Amitai, R. Lurie, M. Pasmanik-Chor, M. Indelman, A. Zvulunov, S. Saban, N. Magal, E. Sprecher, M. Shohat. American Journal of Human Genetics, 80(3):467-477, 2007
32.	Mutation in CEP290 Discovered for Cat Model of Human Retinal Degeneration. M. Menotti-Raymond, V. A. David, A. A. Schäffer, R. Stephens, D. Wells, R. Kumar-Singh, S. J. O'Brien, K. Narfström. Journal of Heredity, 10(19), 2007
31.	Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene. V. A. David, A. A. Schäffer, K. Bajema, E. Eizirik, D. K. Ryugo, S. S. Hannah, S. J. O'Brien, M. Menotti-Raymond. Journal of Heredity, 10(72), 2007
30.	A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. S. Hanein, A. Durr, P. Ribai, S. Forlani, A. L. Leutenegger, I. Nelson, M. C. Babron, N. Elleuch, C. Depienne, C. Charon, A. Brice, G. Stevanin. Human Genet, 122(3-4):261-273, 2007
29.	Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. K. Maeda, R. Kaji, K. Yasuno, J. Jambaldorj, H. Nodera, H. Takashima, M. Nakagawa, S. Makino, G. Tamiya. Journal of Human Genetics, 52(11):907-914, 2007
28.	Elimination of neutrophil elastase and adaptor protein complex 3 subunit genes as the cause of trapped neutrophil syndrome in Border collies. J.R. Shearman, A.N. Wilton. Animal Genetics, 38(2), 2007
27.	Assignment of 58 genes from HSA18 to the porcine IMpRH maps for SSC1 and SSC6 1. M. Nishibori, T. Hayashi, H. Hiraiwa, T. Shimogiri, H. Yasue. Animal Genetics, 38(2), 2007
26.	Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa. F. Coppieters, B.P. Leroy, D. Beysen, J. Hellemans, K. De Bosscher, G. Haegeman, K. Robberecht, W. Wuyts, P.J. Coucke, E. De Baere. American Journal of Human Genetics, 81(1):147-157, 2007
25.	Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIP5KI1C of the Phophatidylinsitol Pathway. G. Narkis, R. Ofir, D. Landau, E. Manor, M. Volokita, R. Hershkowitz, K. Elbedour O.S. Birk. American Journal of Human Genetics, 81(3):530-539, 2007
24.	A novel DFNA5 mutation does not cause hearing loss in an Iranian family. L. Van Laer, N.C. Meyer, M. Malekpour, Y. Riazalhosseini, M. Moghannibashi, K. Kahrizi, A. Vandevelde, F. Alasti, H. Najmabadiand, G. Van Camp. Journal of Human Genetics, 52(6):549-552, 2007
23.	SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis. C. Bergwitz, N.M. Roslin,M. Tieder, J.C. Loredo-Osti, M. Bastepe, H. Abu-Zahra, D. Frappier, K. Burkett, T.O. Carpenter, D. Anderson, M. Garabedian , I. Sermet, T.M. Fujiwara, K. Morgan , H.S. Tenenhouse, Juppner. American Journal of Human Genetics, 78(2):179-192, 2006
22.	Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. RY. Birnbaum, A. Zvulunov, D. Hallel-Halevy, E. Cagnano, G. Finer, R. Ofir, D. Geiger, E. Silberstein, Y. Feferman, O.S. Birk. Nature genetics, 38(7):749-751, 2006
21.	Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. S. Malik, A.A. Abbasi, M. Ansar, W. Ahmad, M.C. Koch, KH Grzeschik. Clinical Genetics, 69(6):518-524, 2006
20.	Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. J. Jung, G. Bohn, A. Allroth, K. Boztug , G. Brandes, I. Sandrock, A. A. Schäffer, C. Rathinam, I. Köllner, C. Beger, R. Schilke, K. Welte, B. Grimbacher, C. Klein. Blood. 2, 8(1):362-369, 2006
19.	A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat. Y. Ishida, V. A. David, E. Eizirik, A. A. Schäffer, B. A. Neelam, M. E. Roelke, S. S. Hannah, S. J. O’Brien, M. Menotti-Raymond. Genomics , 88(6):698-705, 2006
18.	A Deleterious Mutation in SAMD9 causes Normophosphatemic Familial Tumoral Calcinosis. O. Topaz, M. Indelman, I. Chefetz, D. Geiger, A. Metzker, Y. Altschuler, M. Choder, D. Bercovich, J. Uitto, R. Bergman, G. Richard, E. Sprecher. American Journal of Human Genetics, 79(4):759-764, 2006
17.	An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. J. C. Fyfe, M. Menotti-Raymond, V.A. David, L.Brichta, A. A. Schäffer, R. Agarwala, W. J. Murphy, W. J. Wedemeyer, B. L. Gregory, B. G. Buzzell, M. C. Drummond, B.Wirth, S. J. O’Brien. Genome Ressearch , 16(9):1084-1090, 2006
16.	Naegeli-Franceschetti-Jadassohn syndrome and Dermatopathia Pigmentosa Reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. J. Lugassy, P. Itin, A. Ishida-Yamamoto, K. Holland, S. Huson, D. Geiger, H. C. Hennies, M. Indelman, D.Bercovich, J. Uitto, R. Bergman, J. A. McGrath, G. Richard, E. Sprecher. American Journal of Human Genetics, 79(4):724-730, 2006
15.	PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy. S. Khateeb, H. Flusser, R. Ofir, I. Shelef, G. Narkis, G. Vardi, Z. Shorer, R. Levy, A. Galil, K. Elbedour, O. S. Birk. American Journal of Human Genetics, 79(5): 942-948, 2006
14.	The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability. D. J. E. Housley, P. J. Venta. Animal Genetics, 37(4):309-315, 2006
13.	Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. L. Basel-Vanagaite, L. Muncher, R. Straussberg, M. Pasmanik-Chor, M. Yahav, L. Rainshtein, C.A. Walsh, N. Magal, E. Taub, V. Drasinover, H. Shalev, R. Attia, G. Rechavi, A.J. Simon, M. Shohat. Ann Neurol, 60(2):214-22, 2006
12.	Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. C.B. Michielse, M. Bhat, A. Brady, H. Jafrid, J.A.J.M van den Hurk, Y. Raashid, H.G Brunner, H. van Bokhoven, G.W Padberg. European Journal of Human Genetics, 14:1306–1312, 2006
11.	A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. R.E. Lamont, J. Loredo-Osti, N.M. Roslin, J. Mauthe, G. Coghlan, E. Nylen, D. Frappier, A.M. Innes, E.G. Lemire, R.B. Lowry, C.R. Greenberg, B.L. Triggs-Raine, K. Morgan, K. Wrogemann, T.M. Fujiwara, T. Zelinski. American journal of medical genetics. Part A., 132A(2):136-143, 2005
10.	Amish brittle hair syndrome gene maps to 7p14.1. E. Seboun, A. Lemainque, C.E. Jackson. American journal of medical genetics. Part A., 134(3):290-294, 2005
9.	A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma. E. Sprecher, A. Ishida-Yamamoto, M. Mizrahi-Koren, D. Rapaport, D. Goldsher, M. Indelman, O. Topaz, I. Chefetz, H. Keren, T. J. O'Brien, D. Bercovich, S. Shalev, D. Geiger, R. Bergman, M. Horowitz, H. Mandel. American journal of human genetics, 77(2):242-251, 2005
8.	Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2-q13. M. Mizrachi-Koren, D. Geiger, M. Indelman, O. Bitterman-Deutsch, R. Bergman, E. Sprecher. The Journal of Investigative Dermatology , 125(3):456-462, 2005
7.	Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. S.O. A., D.L. Duffy, R.D. Gordon, Y.W. Jeske, K. Lin-Su, M.I. New, M. Stowasser. Journal of hypertension, 23(8):1477-1484, 2005
6.	Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. V. L.i Ramprasad, S. Sripriya, G. Ronnie, D. Nancarrow, S. Saxena, A. Hemamalini, D. Kumar, Lingam Vijaya, G. Kumaramanickavel. Molecular Vision, 11:934-940, 2005
5.	Infantile bilateral striatal necrosis maps to chromosome 19q. L. Basel-Vanagaite, R. Straussberg, H. Ovadia, A. Kaplan, N. Magal, Z. Shorer, H. Shalev, C. Walsh, M. Shohat. Neurology, 62(1):87-90, 2004
4.	Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. W. Rezende-Lima, K.S. Parreira, M. Garcia-Gonzalez, E. Riveira, J.F. Banet, X.M. Lens. Kidney International, 66(2):558-563, 2004
3.	Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. G. Narkis, D. Landau, E. Manor, K. Elbedour, A. Tzemach, M. Fishelson, D. Geiger, R. Ofir, R. Carmi, O.S. Birk. American journal of medical genetics. Part A.130(3):272-276, 2004
2.	Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. J. Ausseil, J.C. Loredo-Osti, A. Verner, C. Darmond-Zwaig, I. Maire, B. Poorthuis, O.P. van Diggelen, T.J. Hudson, T.M. Fujiwara, K. Morgan, A.V. Pshezhetsky. Journal of medical genetics, 41(12):941-945, 2004
1.	Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity. L. Basel-Vanagaite, A. Alkelai, R. Straussberg, N. Magal, D. Inbar D, M. Mahajna, M. Shohat. Journal of medical genetics 40(10):729-32, 2003

Some references to Superlink papers

Speeding up HMM algorithms for genetic linkage analysis via chain reductions of the state space. D. Geiger, C. Meek and Y. Wexler. Bioinformatics 2009 25(12):196-203
easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. K. Hoffmann and T. H. Lindner. Bioinformatics 2005 21(17):3565-3567
Maximum Likelihood Haplotyping for General Pedigrees. Fishelson M., Dovgolevsky N. and Geiger D. Human Heredity, 2005; 59:41-60.
Optimizing Exact Genetic Linkage Computations. Fishelson M. and Geiger D. Journal of Computational Biology, 2004; 11(2-3): 263-75.
On finding minimal w-cutset Bozhena Bidyuk and Rina Dechter, ACM International Conference Proceeding Series
Proceedings of the 20th conference on Uncertainty in artificial intelligence Banff, Canada 2004:43 - 50
Graphical Models for Genetic Analyses Lauritzen, S.L and N.A.Sheehan, Statistical Science. 2004.
On the complexity of fundamental computational problems in pedigree analysis Piccolboni A, Gusfield D. J Comput Biol. 2003;10(5):763-73.
A survey of current software for linkage analysis Dudbridge F. Hum Genomics. 2003 Nov;1(1):63-5.
New Advances in Inference by Recursive Conditioning David Allen and Adnan Darwiche. In Proceedings of the 19th Conference on Uncertainty in Artificial Intelligence UAI-2003
Exact Genetic Linkage Computations for General Pedigrees. Fishelson M. and Geiger D. Bioinformatics, 2002; 18 Suppl. 1: S189-S198.

Some links pointing to Superlink

Science Magazine Netwatch, Volume 312, Number 5776, Issue of 19 May 2006
Rina Dechter homepage: http://www.ics.uci.edu/~dechter/ics-280/spring-2005/
List of Genetic Linkage software http://www.nslij-genetics.org/soft/