Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

Authors: Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, Lipiński, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry, Wang, Jian-She, Wagner, Matias, Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Staufner, Christian

Source: In Molecular Genetics and Metabolism March 2024 141(3)

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Authors: Lin, Sheng‐Jia, Vona, Barbara, Porter, Hillary M., Izadi, Mahmoud, Huang, Kevin, Lacassie, Yves, Rosenfeld, Jill A., Khan, Saadullah, Petree, Cassidy, Ali, Tayyiba A., Muhammad, Nazif, Khan, Sher A., Muhammad, Noor, Liu, Pengfei, Haymon, Marie‐Louise, Rüschendorf, Franz, Kong, Il‐Keun, Schnapp, Linda, Shur, Natasha, Chorich, Lynn, Layman, Lawrence, Haaf, Thomas, Pourkarimi, Ehsan, Kim, Hyung‐Goo, Varshney, Gaurav K.

Source: Human mutation. 43(10):1472-1489

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Lessons from a 30 year follow‐up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them

Authors: Chanes, Benjamin, Arriaza, Marta, Lacassie, Yves

Source: American journal of medical genetics.Part A. 185(4):1242-1246

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122551727.0x000001&indx=1&recIds=ETOCvdc_100122551727.0x000001

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

Authors: Walters, Michelle E., Lacassie, Yves, Azamian, Mahshid, Franciskovich, Rachel, Zapata, Gladys, Hernandez, Patricia P., Liu, Pengfei, Campbell, Ian M., Bostwick, Bret L., Lalani, Seema R.

Source: American journal of medical genetics.Part A. 185(3):916-922

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114531905.0x000001&indx=1&recIds=ETOCvdc_100114531905.0x000001

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance

Authors: Casano, Kelsey, Meddaugh, Hannah, Zambrano, Regina M., Marble, Michael, Torres, Jairo I., Lacassie, Yves

Source: In European Journal of Medical Genetics April 2020 63(4)

Further delineation of Basel‐Vanagaite‐Smirin‐Yosef syndrome: Report of three patients

Authors: Haynes, Devon, Pollack, Lynda, Prasad, Chitra, Goobie, Sharan, Colaiacovo, Samantha, Wolfinger, Tara, Lacassie, Yves

Source: American journal of medical genetics.Part A. 182(7):1785-1790

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Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

Authors: Lacassie, Yves, Johnson, Britt, Lay‐Son, Guillermo, Quintana, Rita, King, Andrew, Cortes, Fanny, Alvarez, Cecilia, Gomez, Ricardo, Vargas, Alfonso, Chalew, Stuart, King, Alejandra, Guardia, Sylvia, Sorensen, Ricardo U., Aradhya, Swaroop

Source: American journal of medical genetics.Part A. 182(7):1767-1775

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107348406.0x000001&indx=1&recIds=ETOCvdc_100107348406.0x000001

New ocular finding in Baraitser-Winter syndrome (BWS)

Authors: Rall, Natalie, Leon, Alejandro, Gomez, Ricardo, Daroca, Jessica, Lacassie, Yves

Source: In European Journal of Medical Genetics January 2018 61(1):21-23

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Authors: Stolerman, Elliot S., Francisco, Elizabeth, Stallworth, Jennifer L., Jones, Julie R., Monaghan, Kristin G., Keller‐Ramey, Jennifer, Person, Richard, Wentzensen, Ingrid M., McWalter, Kirsty, Keren, Boris, Heron, Benedicte, Nava, Caroline, Heron, Delphine, Kim, Katherine, Burton, Barbara, Al‐Musafri, Fatima, O'Grady, Lauren, Sahai, Inderneel, Escobar, Luis F., Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Lacassie, Yves, Gunay‐Aygun, Meral, Schatz, Krista Sondergaard, Hochstenbach, Ron, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Slegtenhorst, Marjon, Mancini, Grazia M.S., Louie, Raymond J.

Source: American journal of medical genetics.Part A. 179(7):1276-1286

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083919669.0x000001&indx=1&recIds=ETOCvdc_100083919669.0x000001

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses

Authors: Lacour, Jennie C., McBride, Lori, St. Hilaire, Hugo, Mundinger, Gerhard S., Moses, Michael, Koon, Jessica, Torres, Jairo I., Lacassie, Yves

Source: Cleft palate-craniofacial journal. 56(5):674-678

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN619939631&indx=1&recIds=ETOCRN619939631

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia

Authors: Murphy, Heidi, Patrick, Jessica, Báez-Irizarry, Eileen, Lacassie, Yves, Gómez, Ricardo, Vargas, Alfonso, Barkemeyer, Brian, Kanotra, Sohit, Zambrano, Regina M.

Source: In European Journal of Medical Genetics April 2016 59(4):227-231

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Authors: Susgun, Seda, Ben-Mahmoud, Afif, Rüschendorf, Franz, Ku, Bonsu, Hussain, Syeda Iqra, Schulz, Solveig, Puk, Oliver, Biskup, Saskia, Labonne, Jonathan D. J., Don, Dilan Wellalage, Gupta, Vijay, Choi, Tae-Ik, Khan, Saadullah, Wasif, Naveed, Lacassie, Yves, Layman, Lawrence C., Ugur Iseri, Sibel Aylin, Kim, Cheol-Hee, Kim, Hyung-Goo

Source: Human Mutation; 1/5/2024, p1-13, 13p

RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature

Authors: Thompson, Danielle, Patrick-Esteve, Jessica, Surcouf, Jeffrey W., Rivera, Dana, Castellanos, Bianca, Desai, Pooja, Lilje, Christian, Lacassie, Yves, Marble, Michael, Zambrano, Regina

Source: Clinical dysmorphology. 26(4):195-199

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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Authors: Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalia T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M, Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo

Source: Scientific Reports; 11/20/2023, Vol. 13 Issue 1, p1-23, 23p

Subject Terms: KALLMANN syndrome, INTELLECTUAL disabilities, COMPARATIVE genomic hybridization, SHORT tandem repeat analysis, LOCUS (Genetics), CHROMOSOMAL translocation

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

Authors: Rosenfeld, Jill A., Lacassie, Yves, El-Khechen, Dima, Escobar, Luis F., Reggin, James, Heuer, Carolyn, Chen, Emily, Jenkins, Lauren S., Collins, A. Thomas, Zinner, Samuel, Babcock, Melanie, Morrow, Bernice, Schultz, Roger A., Torchia, Beth S., Ballif, Blake C., Tsuchiya, Karen D., Shaffer, Lisa G.

Source: In European Journal of Medical Genetics 2011 54(1):42-49

Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair

Authors: Zambrano, Regina M., Marble, Michael, Chalew, Stuart A., Lilje, Christian, Vargas, Alfonso, Lacassie, Yves

Source: American journal of medical genetics.Part A. 173(2):565-567

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081731089.0x000001&indx=1&recIds=ETOCvdc_100081731089.0x000001

Front Cover, Volume 43, Issue 10

Authors: Lin, Sheng‐Jia, Vona, Barbara, Porter, Hillary M., Izadi, Mahmoud, Huang, Kevin, Lacassie, Yves, Rosenfeld, Jill A., Khan, Saadullah, Petree, Cassidy, Ali, Tayyiba A., Muhammad, Nazif, Khan, Sher A., Muhammad, Noor, Liu, Pengfei, Haymon, Marie‐Louise, Rüschendorf, Franz, Kong, Il‐Keun, Schnapp, Linda, Shur, Natasha, Chorich, Lynn, Layman, Lawrence, Haaf, Thomas, Pourkarimi, Ehsan, Kim, Hyung‐Goo, Varshney, Gaurav K.

Source: Human mutation. 43(10):i-i

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100159566538.0x000001&indx=1&recIds=ETOCvdc_100159566538.0x000001

A Boy with a Mild Case of Cornelia de Lange Syndrome with Above Average Intelligence.

Authors: Lacassie, Yves, Bobadilla, Olga, Cambias, Ron D.

Source: Journal of Intellectual and Developmental Disability. Dec 1997 22(4):293-299.

Peer Reviewed: Y

Page Count: 7

Descriptors: Case Studies, Children, Clinical Diagnosis, Cognitive Ability, Congenital Impairments, Disability Identification, Gifted, Physical Characteristics, Symptoms (Individual Disorders)

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Authors: Minatogawa, Mari, Ai Unzaki, Hiroko Morisaki, Syx, Delfien, Tohru Sonoda, Janecke, Andreas R., Slavotinek, Anne, Voermans, Nicol C., Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J., Jayakar, Parul, Gahl, William A., Tifft, Cynthia J., Figuera, Luis E., Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki

Source: Journal of Medical Genetics; Sep2022, Vol. 59 Issue 9, p865-877, 13p

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14(mcEDS-CHST14)

Authors: Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki

Source: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 9 p865-877, 13p