Publications:

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High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.

American Journal Of Medical Genetics. Part A

Munabi, Naikhoba C O NCO; Mikhail, Shady S; Toubat, Omar O; Webb, Michelle M; Auslander, Allyn A; Sanchez-Lara, Pedro A PA; Manojlovic, Zarko Z; Schmidt, Ryan J RJ; Craig, David D; Magee, William P WP; Kumar, Subramanyan Ram SR

Publication Date: 2022-07

Variant appearance in text: SACS: Q1143K

PubMed Link: 35385219

Variant Present in the following documents:

• Main text
• AJMG-188-2082.pdf

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The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Genes

Musante, Luciana L; Costa, Paola P; Zanus, Caterina C; Faletra, Flavio F; Murru, Flora M FM; Bianco, Anna M AM; La Bianca, Martina M; Ragusa, Giulia G; Athanasakis, Emmanouil E; d'Adamo, Adamo P AP; Carrozzi, Marco M; Gasparini, Paolo P

Publication Date: 2022-03-12

Variant appearance in text: SACS: Gln1143Lys

PubMed Link: 35328054

Variant Present in the following documents:

• Main text
• genes-13-00500.pdf

View BVdb publication page

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Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.

Scientific Reports

Huusko, Johanna M JM; Tiensuu, Heli H; Haapalainen, Antti M AM; Pasanen, Anu A; Tissarinen, Pinja P; Karjalainen, Minna K MK; Zhang, Ge G; Christensen, Kaare K; Ryckman, Kelli K KK; Jacobsson, Bo B; Murray, Jeffrey C JC; Kingsmore, Stephen F SF; Hallman, Mikko M; Muglia, Louis J LJ; Rämet, Mika M

Publication Date: 2021-08-24

Variant appearance in text: rs144267558

PubMed Link: 34429451

Variant Present in the following documents:

• Main text
• 41598_2021_Article_96374.pdf

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs144267558

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

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

Sun, Miao M; Johnson, Amy Knight AK; Nelakuditi, Viswateja V; Guidugli, Lucia L; Fischer, David D; Arndt, Kelly K; Ma, Lan L; Sandford, Erin E; Shakkottai, Vikram V; Boycott, Kym K; Warman-Chardon, Jodi J; Li, Zejuan Z; Del Gaudio, Daniela D; Burmeister, Margit M; Gomez, Christopher M CM; Waggoner, Darrel J DJ; Das, Soma S

Publication Date: 2019-01

Variant appearance in text: SACS: 3427C>A

PubMed Link: 29915382

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: SACS: 3427C>A; Gln1143Lys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SACS: Q1143K

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Human Mutation

Romano, Alessandro A; Tessa, Alessandra A; Barca, Amilcare A; Fattori, Fabiana F; de Leva, Maria Fulvia MF; Terracciano, Alessandra A; Storelli, Carlo C; Santorelli, Filippo Maria FM; Verri, Tiziano T

Publication Date: 2013-03

Variant appearance in text: SACS: Q1143K; rs144267558

PubMed Link: 23280630

Variant Present in the following documents:

• humu0034-0525-SD1.pdf

View BVdb publication page

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