Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations

Authors: Guillouet, Charlotte ¹, Agostini, Valeria ¹, Baujat, Geneviève ², Cocciadiferro, Dario ³, Pippucci, Tommaso ⁴, Lesieur-Sebellin, Marion ¹, Georget, Mathieu ¹, Schatz, Ulrich ^{5, 35}, Fauth, Christine ⁵, Louie, Raymond J. ⁶, Rogers, Curtis ⁶, Davis, Jessica M. ⁶, Konstantopoulou, Vassiliki ⁷, Mayr, Johannes A. ⁸, Bouman, Arjan ⁹, Wilke, Martina ⁹, VanNoy, Grace E. ¹⁰, England, Eleina M. ¹⁰, Park, Kristen L. ¹¹, Brown, Kathleen ¹², Saenz, Margarita ¹², Novelli, Antonio ³, Digilio, Maria Cristina ¹³, Mastromoro, Gioia ¹⁴, Rongioletti, Mauro Ciro Antonio ¹⁴, Piacentini, Gerardo ¹⁵, Kaiyrzhanov, Rauan ^{16, 17}, Guliyeva, Sughra ¹⁸, Hasanova, Lala ¹⁹, Shears, Deborah ²⁰, Bhatnagar, Ishita ²⁰, Stals, Karen ²¹, Klaas, Oliver ²², Horvath, Judit ²², Bouvagnet, Patrice ^{38, 39}, Witmer, P. Dane ²³, MacCarrick, Gretchen ²³, Cisarova, Katarina ³⁶, Good, Jean-Marc ²⁴, Gorokhova, Svetlana ^{25, 26}, Boute, Odile ²⁷, Smol, Thomas ²⁷, Bruel, Ange-Line ^{28, 29}, Patat, Olivier ³⁰, Broadbent, Julia R. ³¹, Tan, Tiong Y. ^{31, 32, 33}, Tan, Natalie B. ³³, Lyonnet, Stanislas ^{1, 2}, Busa, Tiffany ²⁶, Graziano, Claudio ³⁴, Amiel, Jeanne ^{1, 2}, Gordon, Christopher T. ^{1, ∗}

Source: In The American Journal of Human Genetics 3 April 2025 112(4):829-845

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Authors: Thaxton, Courtney, Goldstein, Jennifer, DiStefano, Marina, Wallace, Kathleen, Witmer, P. Dane, Haendel, Melissa A., Hamosh, Ada, Rehm, Heidi L., Berg, Jonathan S.

Source: In Cell Genomics 11 May 2022 2(5)

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Authors: Dyment, David A., O'Donnell‐Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping‐Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, Boer, Elke, Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, López‐Giráldez, Francesc, Matise, Tara C., McEvoy‐Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

Source: American journal of medical genetics.Part A. 185(1):119-133

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100112419830.0x000001&indx=1&recIds=ETOCvdc_100112419830.0x000001

Variants of human CLDN9 cause mild to profound hearing loss

Authors: Ramzan, Memoona, Philippe, Christophe, Belyantseva, Inna A., Nakano, Yoko, Fenollar‐Ferrer, Cristina, Tona, Risa, Yousaf, Rizwan, Basheer, Rasheeda, Imtiaz, Ayesha, Faridi, Rabia, Munir, Zunaira, Idrees, Hafiza, Salman, Midhat, Nambot, Sophie, Vitobello, Antonio, Kartti, Souad, Zarrik, Oumaima, Witmer, P. Dane, Sobreria, Nara, Ibrahimi, Azeddine, Banfi, Botond, Moutton, Sebastien, Friedman, Thomas B., Naz, Sadaf

Source: Human mutation. 42(10):1321-1335

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128936550.0x000001&indx=1&recIds=ETOCvdc_100128936550.0x000001

The utility of exome sequencing for fetal pleural effusions

Authors: Jelin, Angie C., Sobreira, Nara, Wohler, Elizabeth, Solomon, Benjamin, Sparks, Teresa, Sagaser, Katelynn G, Forster, Katherine R., Miller, Jena, Witmer, P. Dane, Hamosh, Ada, Valle, David, Blakemore, Karin

Source: Prenatal diagnosis. 40(5):590-595

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106949838.0x000001&indx=1&recIds=ETOCvdc_100106949838.0x000001

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Authors: Schnappauf, Oskar, Zhou, Qing, Moura, Natalia Sampaio, Ombrello, Amanda K., Michael, Drew G., Deuitch, Natalie, Barron, Karyl, Stone, Deborah L., Hoffmann, Patrycja, Hershfield, Michael, Applegate, Carolyn, Bjornsson, Hans T., Beck, David B., Witmer, P. Dane, Sobreira, Nara, Wohler, Elizabeth, Chiorini, John A., Center, The American Genome, Dalgard, Clifton L., Center, NIH Intramural Sequencing, Kastner, Daniel L., Aksentijevich, Ivona

Source: Journal of clinical immunology. 40(6):917-926

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171466827.0x000001&indx=1&recIds=ETOCvdc_100171466827.0x000001

Insights into genetics, human biology and disease gleaned from family based genomic studies

Authors: Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M.B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

Source: In Genetics in Medicine April 2019 21(4):798-812

Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss

Authors: Ramzan, Memoona, Idrees, Hafiza, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf

Source: Gene. 705:109-112

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081963694.0x000001&indx=1&recIds=ETOCvdc_100081963694.0x000001

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex.

Authors: Jelin, Angie C., Sopko, Nikolai, Sobreira, Nara, Boyadjiev, Simeon A., Wohler, Elizabeth, Morrill, Christian, Witmer, P. Dane, Michaud, Jason, Valle, David, Gearhart, John, Dicarlo, Heather

Source: Frontiers in Genetics; 2024, p1-7, 7p

Subject Terms: BLADDER exstrophy, URODYNAMICS, GENETIC variation, CELL communication, PEDIATRIC urology

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Authors: Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., De Backer, Julie

Source: Journal of the American College of Cardiology. 72(6):605-615

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100070016315.0x000001&indx=1&recIds=ETOCvdc_100070016315.0x000001

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Authors: Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

Source: In The American Journal of Human Genetics 6 August 2015 97(2):199-215

Generating Exome Enriched Sequencing Libraries from Formalin‐Fixed, Paraffin‐Embedded Tissue DNA for Next‐Generation Sequencing

Authors: Marosy, Beth A., Craig, Brian D., Hetrick, Kurt N., Witmer, P. Dane, Ling, Hua, Griffith, Sean M., Myers, Benjamin, Ostrander, Elaine A., Stanford, Janet L., Brody, Lawrence C., Doheny, Kimberly F.

Source: Current Protocols in Human Genetics. 92(1):18.10.1-18.10.25

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110337679.0x000001&indx=1&recIds=ETOCvdc_100110337679.0x000001

Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan

Authors: Ramzan, Memoona, Bashir, Rasheeda, Salman, Midhat, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf

Source: Scientific reports. 10(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174621959.0x000001&indx=1&recIds=ETOCvdc_100174621959.0x000001

Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration

Authors: Lumayag, Stephen, Haldin, Caroline E., Corbett, Nicola J., Wahlin, Karl J., Cowan, Colleen, Turturro, Sanja, Larsen, Peter E., Kovacs, Beatrix, Witmer, P. Dane, Valle, David, Zack, Donald J., Nicholson, Daniel A., Xu, Shunbin

Source: Proceedings of the National Academy of Sciences of the United States of America, 2013 Feb 01. 110(6), 1990-1991.

Access URL: https://www.jstor.org/stable/41992167

MicroRNA (miRNA) Transcriptome of Mouse Retina and Identification of a Sensory Organ-specific miRNA Cluster

Authors: Xu, Shunbin, Witmer, P. Dane, Lumayag, Stephen, Kovacs, Beatrix, Valle, David

Source: In Journal of Biological Chemistry 24 August 2007 282(34):25053-25066

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Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Authors: Koji Shindo, Jun Yu, Masaya Suenaga, Fesharakizadeh, Shahriar, Cho, Christy, Macgregor-Das, Anne, Siddiqui, Abdulrehman, Witmer, P. Dane, Koji Tamura, Tae Jun Song, Navarro Almario, Jose Alejandro, Brant, Aaron, Borges, Michael, Ford, Madeline, Barkley, Thomas, Jin He, Weiss, Matthew J., Wolfgang, Christopher L., Roberts, Nicholas J., Hruban, Ralph H.

Source: Journal of Clinical Oncology; 10/20/2017, Vol. 35 Issue 30, p3382-3390, 25p

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