Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 10725G>C; Gln3575His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

American Journal Of Medical Genetics. Part A

Baldridge, Dustin D; Spillmann, Rebecca C RC; Wegner, Daniel J DJ; Wambach, Jennifer A JA; White, Frances V FV; Sisco, Kathleen K; Toler, Tomi L TL; Dickson, Patricia I PI; Cole, F Sessions FS; Shashi, Vandana V; Grange, Dorothy K DK

Publication Date: 2020-05

Variant appearance in text: KMT2D: 10725G>C; Gln3575His

PubMed Link: 32083401

Variant Present in the following documents:

• Main text

View BVdb publication page

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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Cuvertino, Sara S; Hartill, Verity V; Colyer, Alice A; Garner, Terence T; Nair, Nisha N; Al-Gazali, Lihadh L; Canham, Natalie N; Faundes, Victor V; Flinter, Frances F; Hertecant, Jozef J; Holder-Espinasse, Muriel M; Jackson, Brian B; Lynch, Sally Ann SA; Nadat, Fatima F; Narasimhan, Vagheesh M VM; Peckham, Michelle M; Sellers, Robert R; Seri, Marco M; Montanari, Francesca F; Southgate, Laura L; Squeo, Gabriella Maria GM; Trembath, Richard R; van Heel, David D; Venuto, Santina S; Weisberg, Daniel D; Stals, Karen K; Ellard, Sian S; , ; Barton, Anne A; Kimber, Susan J SJ; Sheridan, Eamonn E; Merla, Giuseppe G; Stevens, Adam A; Johnson, Colin A CA; Banka, Siddharth S

Publication Date: 2020-05

Variant appearance in text: KMT2D: Gln3575His

PubMed Link: 31949313

Variant Present in the following documents:

• Main text
• 41436_2019_Article_743.pdf

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: KMT2D: 10725G>C; Q3575H

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

View BVdb publication page

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Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome.

Molecular Genetics & Genomic Medicine

Song, Xiao X; Wang, Xueyan X; Ding, Li L; He, Dan D; Sun, Jin J; Xi, Na N; Yin, Yan Y; Peng, Hui H; Sun, Lingling L

Publication Date: 2020-01

Variant appearance in text: KMT2D: Gln3575His

PubMed Link: 31691538

Variant Present in the following documents:

• MGG3-8-e1034.pdf

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PEDIA: prioritization of exome data by image analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM

Publication Date: 2019-12

Variant appearance in text: KMT2D: 10725G>C

PubMed Link: 31164752

Variant Present in the following documents:

• 41436_2019_Article_566.pdf
• 41436_2019_566_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.

Scientific Reports

Ogier, Jacqueline M JM; Arhatari, Benedicta D BD; Carpinelli, Marina R MR; McColl, Bradley K BK; Wilson, Michael A MA; Burt, Rachel A RA

Publication Date: 2018-04-03

Variant appearance in text: KMT2D: Gln3575His

PubMed Link: 29615807

Variant Present in the following documents:

• 41598_2018_Article_23856.pdf

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Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Frontiers In Genetics

Sakata, Sonoko S; Okada, Satoshi S; Aoyama, Kohei K; Hara, Keiichi K; Tani, Chihiro C; Kagawa, Reiko R; Utsunomiya-Nakamura, Akari A; Miyagawa, Shinichiro S; Ogata, Tsutomu T; Mizuno, Haruo H; Kobayashi, Masao M

Publication Date: 2017

Variant appearance in text: KMT2D: Q3575H

PubMed Link: 29321794

Variant Present in the following documents:

• Main text
• fgene-08-00210.pdf

View BVdb publication page

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