Publications:

---

Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.

International Journal Of Molecular Sciences

Ohkawara, Bisei B; Ito, Mikako M; Ohno, Kinji K

Publication Date: 2021-02-28

Variant appearance in text: CLSS: D529N

PubMed Link: 33671084

Variant Present in the following documents:

• Main text
• ijms-22-02455.pdf

View BVdb publication page

---

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

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

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: LRP4: 1585G>A

PubMed Link: 29907799

Variant Present in the following documents:

• 41436_2018_4_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Prenatal Diagnosis

Stals, Karen L KL; Wakeling, Matthew M; Baptista, Júlia J; Caswell, Richard R; Parrish, Andrew A; Rankin, Julia J; Tysoe, Carolyn C; Jones, Garan G; Gunning, Adam C AC; Lango Allen, Hana H; Bradley, Lisa L; Brady, Angela F AF; Carley, Helena H; Carmichael, Jenny J; Castle, Bruce B; Cilliers, Deirdre D; Cox, Helen H; Deshpande, Charu C; Dixit, Abhijit A; Eason, Jacqueline J; Elmslie, Frances F; Fry, Andrew E AE; Fryer, Alan A; Holder, Muriel M; Homfray, Tessa T; Kivuva, Emma E; McKay, Victoria V; Newbury-Ecob, Ruth R; Parker, Michael M; Savarirayan, Ravi R; Searle, Claire C; Shannon, Nora N; Shears, Deborah D; Smithson, Sarah S; Thomas, Ellen E; Turnpenny, Peter D PD; Varghese, Vinod V; Vasudevan, Pradeep P; Wakeling, Emma E; Baple, Emma L EL; Ellard, Sian S

Publication Date: 2018-01

Variant appearance in text: LRP4: Asp529Asn

PubMed Link: 29096039

Variant Present in the following documents:

• Main text
• PD-38-33.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LRP4: D529N

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LRP4: D529N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

American Journal Of Human Genetics

Li, Yun Y; Pawlik, Barbara B; Elcioglu, Nursel N; Aglan, Mona M; Kayserili, Hülya H; Yigit, Gökhan G; Percin, Ferda F; Goodman, Frances F; Nürnberg, Gudrun G; Cenani, Asim A; Urquhart, Jill J; Chung, Boi-Dinh BD; Ismail, Samira S; Amr, Khalda K; Aslanger, Ayca D AD; Becker, Christian C; Netzer, Christian C; Scambler, Pete P; Eyaid, Wafaa W; Hamamy, Hanan H; Clayton-Smith, Jill J; Hennekam, Raoul R; Nürnberg, Peter P; Herz, Joachim J; Temtamy, Samia A SA; Wollnik, Bernd B

Publication Date: 2010-05-14

Variant appearance in text: LRP4: 1585G>A; D529N

PubMed Link: 20381006

Variant Present in the following documents:

• Main text

View BVdb publication page

---