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1. Evidence-Enhanced Triplet Generation Framework for Hallucination Alleviation in Generative Question Answering

Author

Du, Haowei, Zhang, Huishuai, and Zhao, Dongyan

Subjects
Computer Science - Computation and Language, Computer Science - Artificial Intelligence
Abstract

To address the hallucination in generative question answering (GQA) where the answer can not be derived from the document, we propose a novel evidence-enhanced triplet generation framework, EATQA, encouraging the model to predict all the combinations of (Question, Evidence, Answer) triplet by flipping the source pair and the target label to understand their logical relationships, i.e., predict Answer(A), Question(Q), and Evidence(E) given a QE, EA, and QA pairs, respectively. Furthermore, we bridge the distribution gap to distill the knowledge from evidence in inference stage. Our framework ensures the model to learn the logical relation between query, evidence and answer, which simultaneously improves the evidence generation and query answering. In this paper, we apply EATQA to LLama and it outperforms other LLMs-based methods and hallucination mitigation approaches on two challenging GQA benchmarks. Further analysis shows that our method not only keeps prior knowledge within LLM, but also mitigates hallucination and generates faithful answers.

Published
2024

2. In-Context Learning with Reinforcement Learning for Incomplete Utterance Rewriting

Author

Du, Haowei and Zhao, Dongyan

Subjects
Computer Science - Computation and Language
Abstract

In-context learning (ICL) of large language models (LLMs) has attracted increasing attention in the community where LLMs make predictions only based on instructions augmented with a few examples. Existing example selection methods for ICL utilize sparse or dense retrievers and derive effective performance. However, these methods do not utilize direct feedback of LLM to train the retriever and the examples selected can not necessarily improve the analogy ability of LLM. To tackle this, we propose our policy-based reinforcement learning framework for example selection (RLS), which consists of a language model (LM) selector and an LLM generator. The LM selector encodes the candidate examples into dense representations and selects the top-k examples into the demonstration for LLM. The outputs of LLM are adopted to compute the reward and policy gradient to optimize the LM selector. We conduct experiments on different datasets and significantly outperform existing example selection methods. Moreover, our approach shows advantages over supervised finetuning (SFT) models in few shot setting. Further experiments show the balance of abundance and the similarity with the test case of examples is important for ICL performance of LLM.

Published
2024

3. Internal and External Knowledge Interactive Refinement Framework for Knowledge-Intensive Question Answering

Author

Du, Haowei and Zhao, Dongyan

Subjects
Computer Science - Computation and Language
Abstract

Recent works have attempted to integrate external knowledge into LLMs to address the limitations and potential factual errors in LLM-generated content. However, how to retrieve the correct knowledge from the large amount of external knowledge imposes a challenge. To this end, we empirically observe that LLMs have already encoded rich knowledge in their pretrained parameters and utilizing these internal knowledge improves the retrieval of external knowledge when applying them to knowledge-intensive tasks. In this paper, we propose a new internal and external knowledge interactive refinement paradigm dubbed IEKR to utilize internal knowledge in LLM to help retrieve relevant knowledge from the external knowledge base, as well as exploit the external knowledge to refine the hallucination of generated internal knowledge. By simply adding a prompt like 'Tell me something about' to the LLMs, we try to review related explicit knowledge and insert them with the query into the retriever for external retrieval. The external knowledge is utilized to complement the internal knowledge into input of LLM for answers. We conduct experiments on 3 benchmark datasets in knowledge-intensive question answering task with different LLMs and domains, achieving the new state-of-the-art. Further analysis shows the effectiveness of different modules in our approach.

Published
2024

4. Multi-Granularity Information Interaction Framework for Incomplete Utterance Rewriting

Author

Du, Haowei, Zhang, Dinghao, Li, Chen, Li, Yang, and Zhao, Dongyan

Subjects
Computer Science - Computation and Language
Abstract

Recent approaches in Incomplete Utterance Rewriting (IUR) fail to capture the source of important words, which is crucial to edit the incomplete utterance, and introduce words from irrelevant utterances. We propose a novel and effective multi-task information interaction framework including context selection, edit matrix construction, and relevance merging to capture the multi-granularity of semantic information. Benefiting from fetching the relevant utterance and figuring out the important words, our approach outperforms existing state-of-the-art models on two benchmark datasets Restoration-200K and CANAND in this field. Code will be provided on \url{https://github.com/yanmenxue/QR}., Comment: Findings of EMNLP2023 (short)

Published
2023

5. Relation-Aware Question Answering for Heterogeneous Knowledge Graphs

Author

Du, Haowei, Huang, Quzhe, Li, Chen, Zhang, Chen, Li, Yang, and Zhao, Dongyan

Subjects
Computer Science - Computation and Language, Computer Science - Artificial Intelligence
Abstract

Multi-hop Knowledge Base Question Answering(KBQA) aims to find the answer entity in a knowledge graph (KG), which requires multiple steps of reasoning. Existing retrieval-based approaches solve this task by concentrating on the specific relation at different hops and predicting the intermediate entity within the reasoning path. During the reasoning process of these methods, the representation of relations are fixed but the initial relation representation may not be optimal. We claim they fail to utilize information from head-tail entities and the semantic connection between relations to enhance the current relation representation, which undermines the ability to capture information of relations in KGs. To address this issue, we construct a \textbf{dual relation graph} where each node denotes a relation in the original KG (\textbf{primal entity graph}) and edges are constructed between relations sharing same head or tail entities. Then we iteratively do primal entity graph reasoning, dual relation graph information propagation, and interaction between these two graphs. In this way, the interaction between entity and relation is enhanced, and we derive better entity and relation representations. Experiments on two public datasets, WebQSP and CWQ, show that our approach achieves a significant performance gain over the prior state-of-the-art. Our code is available on \url{https://github.com/yanmenxue/RAH-KBQA}., Comment: Findings of EMNLP2023 (Long)

Published
2023

6. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Author

Dardas, Zain, Fatih, Jawid M., Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M., Jones, Edward G., Jhangiani, Shalini N., Wehrens, Xander H. T., Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Coban-Akdemir, Zeynep, and Morris, Shaine A.

Published
2024
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7. Cross-Lingual Question Answering over Knowledge Base as Reading Comprehension

Author

Zhang, Chen, Lai, Yuxuan, Feng, Yansong, Shen, Xingyu, Du, Haowei, and Zhao, Dongyan

Subjects
Computer Science - Computation and Language
Abstract

Although many large-scale knowledge bases (KBs) claim to contain multilingual information, their support for many non-English languages is often incomplete. This incompleteness gives birth to the task of cross-lingual question answering over knowledge base (xKBQA), which aims to answer questions in languages different from that of the provided KB. One of the major challenges facing xKBQA is the high cost of data annotation, leading to limited resources available for further exploration. Another challenge is mapping KB schemas and natural language expressions in the questions under cross-lingual settings. In this paper, we propose a novel approach for xKBQA in a reading comprehension paradigm. We convert KB subgraphs into passages to narrow the gap between KB schemas and questions, which enables our model to benefit from recent advances in multilingual pre-trained language models (MPLMs) and cross-lingual machine reading comprehension (xMRC). Specifically, we use MPLMs, with considerable knowledge of cross-lingual mappings, for cross-lingual reading comprehension. Existing high-quality xMRC datasets can be further utilized to finetune our model, greatly alleviating the data scarcity issue in xKBQA. Extensive experiments on two xKBQA datasets in 12 languages show that our approach outperforms various baselines and achieves strong few-shot and zero-shot performance. Our dataset and code are released for further research., Comment: 14 pages, 4 figures, EACL 2023 (findings)

Published
2023

8. Knowledge-enhanced Iterative Instruction Generation and Reasoning for Knowledge Base Question Answering

Author

Du, Haowei, Huang, Quzhe, Zhang, Chen, and Zhao, Dongyan

Subjects
Computer Science - Computation and Language
Abstract

Multi-hop Knowledge Base Question Answering(KBQA) aims to find the answer entity in a knowledge base which is several hops from the topic entity mentioned in the question. Existing Retrieval-based approaches first generate instructions from the question and then use them to guide the multi-hop reasoning on the knowledge graph. As the instructions are fixed during the whole reasoning procedure and the knowledge graph is not considered in instruction generation, the model cannot revise its mistake once it predicts an intermediate entity incorrectly. To handle this, we propose KBIGER(Knowledge Base Iterative Instruction GEnerating and Reasoning), a novel and efficient approach to generate the instructions dynamically with the help of reasoning graph. Instead of generating all the instructions before reasoning, we take the (k-1)-th reasoning graph into consideration to build the k-th instruction. In this way, the model could check the prediction from the graph and generate new instructions to revise the incorrect prediction of intermediate entities. We do experiments on two multi-hop KBQA benchmarks and outperform the existing approaches, becoming the new-state-of-the-art. Further experiments show our method does detect the incorrect prediction of intermediate entities and has the ability to revise such errors., Comment: Accepted by NLPCC 2022(oral)

Published
2022

9. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

Author

Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, and Mazzeu, Juliana F

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.

Published
2022

10. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Author

Grochowski, Christopher M., Bengtsson, Jesse D., Du, Haowei, Gandhi, Mira, Lun, Ming Yin, Mehaffey, Michele G., Park, KyungHee, Höps, Wolfram, Benito, Eva, Hasenfeld, Patrick, Korbel, Jan O., Mahmoud, Medhat, Paulin, Luis F., Jhangiani, Shalini N., Hwang, James Paul, Bhamidipati, Sravya V., Muzny, Donna M., Fatih, Jawid M., Gibbs, Richard A., Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Lindstrand, Anna, Sedlazeck, Fritz J., Pehlivan, Davut, Lupski, James R., and Carvalho, Claudia M.B.

Published
2024
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11. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Author

Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Carter, Jennefer, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Delot, Emmanuele, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garcia, Brandon, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Page, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Sousa, Rodrigo Guarischi, Gudmundsson, Sanna, Gulati, Ashima, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lee, Arthur, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James (Jim), Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Mastrorosa, Francesco Kumara, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Mendez, Hector Rodrigo, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Nguyen, Thuy-mi P., Nguyen, Jonathan, Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria`Sara, Ponce, Sarah, Porter, Elizabeth, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Evette, Scott, Stuart, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Kevin, Smith, Josh, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael (Mike), Tise, Christina, Tong, Catherine (Cat), Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Wei, Chia-Lin, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Chong, Jessica X., Berger, Seth I., Smith, Erica, Calame, Daniel G., Hawley, Megan H., Rivera-Munoz, E. Andres, Bamshad, Michael J., and Rehm, Heidi L.

Published
2024
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13. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Author

Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, and Callewaert, Bert

Published
2024
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14. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

Author

Abouhala, Siwaar, Albert, Jessica, Almalvez, Miguel, Alvarez, Raquel, Amin, Mutaz, Anderson, Peter, Aradhya, Swaroop, Ashley, Euan, Assimes, Themistocles, Auriga, Light, Austin-Tse, Christina, Bamshad, Mike, Barseghyan, Hayk, Baxter, Samantha, Behera, Sairam, Beheshti, Shaghayegh, Bejerano, Gill, Berger, Seth, Bernstein, Jon, Best, Sabrina, Blankenmeister, Benjamin, Blue, Elizabeth, Boerwinkle, Eric, Bonkowski, Emily, Bonner, Devon, Boone, Philip, Bornhorst, Miriam, Bozkurt-Yozgatli, Tugce, Brand, Harrison, Buckingham, Kati, Calame, Daniel, Casadei, Silvia, Chadwick, Lisa, Chavez, Clarisa, Chen, Ziwei, Chinn, Ivan, Chong, Jessica, Coban-Akdemir, Zeynep, Cohen, Andrea J., Conner, Sarah, Conomos, Matthew, Coveler, Karen, Cui, Ya Allen, Currin, Sara, Daber, Robert, Dardas, Zain, Davis, Colleen, Dawood, Moez, de Dios, Ivan, de Esch, Celine, Delaney, Meghan, Délot, Emmanuèle, DiTroia, Stephanie, Doddapaneni, Harsha, Du, Haowei, Duan, Ruizhi, Dugan-Perez, Shannon, Duong, Nhat, Duyzend, Michael, Eichler, Evan, Emami, Sara, Fatih, Jawid, Fraser, Jamie, Fusaro, Vincent, Galey, Miranda, Ganesh, Vijay, Garimella, Kiran, Gibbs, Richard, Gifford, Casey, Ginsburg, Amy, Goddard, Pagé, Gogarten, Stephanie, Gogate, Nikhita, Gordon, William, Gorzynski, John E., Greenleaf, William, Grochowski, Christopher, Groopman, Emily, Guarischi Sousa, Rodrigo, Gudmundsson, Sanna, Gulati, Ashima, Guo, Daniel, Hale, Walker, Hall, Stacey, Harvey, William, Hawley, Megan, Heavner, Ben, Herman, Isabella, Horike-Pyne, Martha, Hu, Jianhong, Huang, Yongqing, Hwang, James, Jarvik, Gail, Jensen, Tanner, Jhangiani, Shalini, Jimenez-Morales, David, Jin, Christopher, Saad, Ahmed K., Kahn-Kirby, Amanda, Kain, Jessica, Kaur, Parneet, Keehan, Laura, Knoblach, Susan, Ko, Arthur, Kohler, Jennefer, Kundaje, Anshul, Kundu, Soumya, Lancaster, Samuel M., Larsson, Katie, Lemire, Gabrielle, Lewis, Richard, Li, Wei, Li, Yidan, Liu, Pengfei, LoTempio, Jonathan, Lupski, James, Ma, Jialan, MacArthur, Daniel, Mahmoud, Medhat, Malani, Nirav, Mangilog, Brian, Marafi, Dana, Marmolejos, Sofia, Marten, Daniel, Martinez, Eva, Marvin, Colby, Marwaha, Shruti, Kumara Mastrorosa, Francesco, Matalon, Dena, May, Susanne, McGee, Sean, Meador, Lauren, Mefford, Heather, Rodrigo Mendez, Hector, Miller, Alexander, Miller, Danny E., Mitani, Tadahiro, Montgomery, Stephen, Moussa, Hala Mohamed, Moyses, Mariana, Munderloh, Chloe, Muzny, Donna, Nelson, Sarah, Neu, Matthew B., Nguyen, Jonathan, Nguyen, Thuy-mi P., Nussbaum, Robert, Nykamp, Keith, O'Callaghan, William, O'Heir, Emily, O'Leary, Melanie, Olsen, Jeren, Osei-Owusu, Ikeoluwa, O'Donnell-Luria, Anne, Padhi, Evin, Pais, Lynn, Pan, Miao, Panchal, Piyush, Patterson, Karynne, Payne, Sheryl, Pehlivan, Davut, Petrowski, Paul, Pham, Alicia, Pitsava, Georgia, Podesta, Astaria, Ponce, Sarah, Posey, Jennifer, Prosser, Jaime, Quertermous, Thomas, Rai, Archana, Ramani, Arun, Rehm, Heidi, Reuter, Chloe, Reuter, Jason, Richardson, Matthew, Rivera-Munoz, Andres, Rubio, Oriane, Sabo, Aniko, Salani, Monica, Samocha, Kaitlin, Sanchis-Juan, Alba, Savage, Sarah, Scott, Stuart, Scott, Evette, Sedlazeck, Fritz, Shah, Gulalai, Shojaie, Ali, Singh, Mugdha, Smith, Josh, Smith, Kevin, Snow, Hana, Snyder, Michael, Socarras, Kayla, Starita, Lea, Stark, Brigitte, Stenton, Sarah, Stergachis, Andrew, Stilp, Adrienne, Sundaram, Laksshman, Sutton, V. Reid, Tai, Jui-Cheng, Talkowski, Michael, Tise, Christina, Tong, Catherine, Tsao, Philip, Ungar, Rachel, VanNoy, Grace, Vilain, Eric, Voutos, Isabella, Walker, Kim, Weisburd, Ben, Weiss, Jeff, Wellington, Chris, Weng, Ziming, Westheimer, Emily, Wheeler, Marsha, Wheeler, Matthew, Wiel, Laurens, Wilson, Michael, Wojcik, Monica, Wong, Quenna, Wong, Issac, Xiao, Changrui, Yadav, Rachita, Yi, Qian, Yuan, Bo, Zhao, Jianhua, Zhen, Jimmy, Zhou, Harry, Wojcik, Monica H., Reuter, Chloe M., Duyzend, Michael H., Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Starita, Lea M., Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., and Sedlazeck, Fritz J.

Published
2023
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15. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Author

Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, and Lupski, James R.

Published
2023
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16. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

Author

Jolly, Angad, Du, Haowei, Borel, Christelle, Chen, Na, Zhao, Sen, Grochowski, Christopher M., Duan, Ruizhi, Fatih, Jawid M., Dawood, Moez, Salvi, Sejal, Jhangiani, Shalini N., Muzny, Donna M., Koch, André, Rouskas, Konstantinos, Glentis, Stavros, Deligeoroglou, Efthymios, Bacopoulou, Flora, Wise, Carol A., Dietrich, Jennifer E., Van den Veyver, Ignatia B., Dimas, Antigone S., Brucker, Sara, Sutton, V. Reid, Gibbs, Richard A., Antonarakis, Stylianos E., Wu, Nan, Coban-Akdemir, Zeynep H., Zhu, Lan, Posey, Jennifer E., and Lupski, James R.

Published
2023
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18. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Author

Du, Haowei, Jolly, Angad, Grochowski, Christopher M., Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N., Li, He, Muzny, Donna, Fatih, Jawid M., Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E., Witzl, Karin, Posey, Jennifer E., Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P. J., Bi, Weimin, Gibbs, Richard A., Sedlazeck, Fritz J., Lupski, James R., Carvalho, Claudia M. B., and Liu, Pengfei

Published
2022
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19. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Author

Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., and Lupski, James R.

Published
2021
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20. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Author

Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., and Pehlivan, Davut

Published
2021
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21. Breast tumours maintain a reservoir of subclonal diversity during expansion

Author

Minussi, Darlan C., Nicholson, Michael D., Ye, Hanghui, Davis, Alexander, Wang, Kaile, Baker, Toby, Tarabichi, Maxime, Sei, Emi, Du, Haowei, Rabbani, Mashiat, Peng, Cheng, Hu, Min, Bai, Shanshan, Lin, Yu-wei, Schalck, Aislyn, Multani, Asha, Ma, Jin, McDonald, Thomas O., Casasent, Anna, Barrera, Angelica, Chen, Hui, Lim, Bora, Arun, Banu, Meric-Bernstam, Funda, Van Loo, Peter, Michor, Franziska, and Navin, Nicholas E.

Published
2021
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22. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Author

Du, Haowei, primary, Dardas, Zain, additional, Jolly, Angad, additional, Grochowski, Christopher M, additional, Jhangiani, Shalini N, additional, Li, He, additional, Muzny, Donna, additional, Fatih, Jawid M, additional, Yesil, Gozde, additional, Elçioglu, Nursel H, additional, Gezdirici, Alper, additional, Marafi, Dana, additional, Pehlivan, Davut, additional, Calame, Daniel G, additional, Carvalho, Claudia M B, additional, Posey, Jennifer E, additional, Gambin, Tomasz, additional, Coban-Akdemir, Zeynep, additional, and Lupski, James R, additional

Published
2023
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23. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

Author

Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, and Yuan, Bo

Published
2021
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25. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

Author

Robak, Laurie A., Du, Renqian, Yuan, Bo, Gu, Shen, Alfradique-Dunham, Isabel, Kondapalli, Vismaya, Hinojosa, Evelyn, Stillwell, Amanda, Young, Emily, Zhang, Chaofan, Song, Xiaofei, Du, Haowei, Gambin, Tomasz, Jhangiani, Shalini N., Coban Akdemir, Zeynep, Muzny, Donna M., Tejomurtula, Anusha, Ross, Owen A., Shaw, Chad, Jankovic, Joseph, Bi, Weimin, Posey, Jennifer E., Lupski, James R., and Shulman, Joshua M.

Published
2020
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27. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Author

Duan, Ruizhi, primary, Hijazi, Hadia, additional, Gulec, Elif Yilmaz, additional, Eker, Hatice Koçak, additional, Costa, Silvia R., additional, Sahin, Yavuz, additional, Ocak, Zeynep, additional, Isikay, Sedat, additional, Ozalp, Ozge, additional, Bozdogan, Sevcan, additional, Aslan, Huseyin, additional, Elcioglu, Nursel, additional, Bertola, Débora R., additional, Gezdirici, Alper, additional, Du, Haowei, additional, Fatih, Jawid M., additional, Grochowski, Christopher M., additional, Akay, Gulsen, additional, Jhangiani, Shalini N., additional, Karaca, Ender, additional, Gu, Shen, additional, Coban-Akdemir, Zeynep, additional, Posey, Jennifer E., additional, Bayram, Yavuz, additional, Sutton, V. Reid, additional, Carvalho, Claudia M.B., additional, Pehlivan, Davut, additional, Gibbs, Richard A., additional, and Lupski, James R., additional

Published
2022
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28. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

Author

Marafi, Dana, primary, Kozar, Nina, additional, Duan, Ruizhi, additional, Bradley, Stephen, additional, Yokochi, Kenji, additional, Al Mutairi, Fuad, additional, Saadi, Nebal Waill, additional, Whalen, Sandra, additional, Brunet, Theresa, additional, Kotzaeridou, Urania, additional, Choukair, Daniela, additional, Keren, Boris, additional, Nava, Caroline, additional, Kato, Mitsuhiro, additional, Arai, Hiroshi, additional, Froukh, Tawfiq, additional, Faqeih, Eissa Ali, additional, AlAsmari, Ali M., additional, Saleh, Mohammed M., additional, Pinto e Vairo, Filippo, additional, Pichurin, Pavel N., additional, Klee, Eric W., additional, Schmitz, Christopher T., additional, Grochowski, Christopher M., additional, Mitani, Tadahiro, additional, Herman, Isabella, additional, Calame, Daniel G., additional, Fatih, Jawid M., additional, Du, Haowei, additional, Coban-Akdemir, Zeynep, additional, Pehlivan, Davut, additional, Jhangiani, Shalini N., additional, Gibbs, Richard A., additional, Miyatake, Satoko, additional, Matsumoto, Naomichi, additional, Wagstaff, Laura J., additional, Posey, Jennifer E., additional, Lupski, James R., additional, Meijer, Dies, additional, and Wagner, Matias, additional

Published
2022
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29. Centers for Mendelian Genomics: A decade of facilitating gene discovery

Author

Baxter, Samantha M., primary, Posey, Jennifer E., additional, Lake, Nicole J., additional, Sobreira, Nara, additional, Chong, Jessica X., additional, Buyske, Steven, additional, Blue, Elizabeth E., additional, Chadwick, Lisa H., additional, Coban-Akdemir, Zeynep H., additional, Doheny, Kimberly F., additional, Davis, Colleen P., additional, Lek, Monkol, additional, Wellington, Christopher, additional, Jhangiani, Shalini N., additional, Gerstein, Mark, additional, Gibbs, Richard A., additional, Lifton, Richard P., additional, MacArthur, Daniel G., additional, Matise, Tara C., additional, Lupski, James R., additional, Valle, David, additional, Bamshad, Michael J., additional, Hamosh, Ada, additional, Mane, Shrikant, additional, Nickerson, Deborah A., additional, Rehm, Heidi L., additional, O’Donnell-Luria, Anne, additional, Adams, Marcia, additional, Aguet, François, additional, Akay, Gulsen, additional, Anderson, Peter, additional, Antonescu, Corina, additional, Arachchi, Harindra M., additional, Atik, Mehmed M., additional, Austin-Tse, Christina A., additional, Babb, Larry, additional, Bacus, Tamara J., additional, Bahrambeigi, Vahid, additional, Balasubramanian, Suganthi, additional, Bayram, Yavuz, additional, Beaudet, Arthur L., additional, Beck, Christine R., additional, Belmont, John W., additional, Below, Jennifer E., additional, Bilguvar, Kaya, additional, Boehm, Corinne D., additional, Boerwinkle, Eric, additional, Boone, Philip M., additional, Bowne, Sara J., additional, Brand, Harrison, additional, Buckingham, Kati J., additional, Byrne, Alicia B., additional, Calame, Daniel, additional, Campbell, Ian M., additional, Cao, Xiaolong, additional, Carvalho, Claudia, additional, Chander, Varuna, additional, Chang, Jaime, additional, Chao, Katherine R., additional, Chinn, Ivan K., additional, Clarke, Declan, additional, Collins, Ryan L., additional, Cummings, Beryl, additional, Dardas, Zain, additional, Dawood, Moez, additional, Delano, Kayla, additional, DiTroia, Stephanie P., additional, Doddapaneni, Harshavardhan, additional, Du, Haowei, additional, Du, Renqian, additional, Duan, Ruizhi, additional, Eldomery, Mohammad, additional, Eng, Christine M., additional, England, Eleina, additional, Evangelista, Emily, additional, Everett, Selin, additional, Fatih, Jawid, additional, Felsenfeld, Adam, additional, Francioli, Laurent C., additional, Frazar, Christian D., additional, Fu, Jack, additional, Gamarra, Emmanuel, additional, Gambin, Tomasz, additional, Gan, Weiniu, additional, Gandhi, Mira, additional, Ganesh, Vijay S., additional, Garimella, Kiran V., additional, Gauthier, Laura D., additional, Giroux, Danielle, additional, Gonzaga-Jauregui, Claudia, additional, Goodrich, Julia K., additional, Gordon, William W., additional, Griffith, Sean, additional, Grochowski, Christopher M., additional, Gu, Shen, additional, Gudmundsson, Sanna, additional, Hall, Stacey J., additional, Hansen, Adam, additional, Harel, Tamar, additional, Harmanci, Arif O., additional, Herman, Isabella, additional, Hetrick, Kurt, additional, Hijazi, Hadia, additional, Horike-Pyne, Martha, additional, Hsu, Elvin, additional, Hu, Jianhong, additional, Huang, Yongqing, additional, Hurless, Jameson R., additional, Jahl, Steve, additional, Jarvik, Gail P., additional, Jiang, Yunyun, additional, Johanson, Eric, additional, Jolly, Angad, additional, Karaca, Ender, additional, Khayat, Michael, additional, Knight, James, additional, Kolar, J. Thomas, additional, Kumar, Sushant, additional, Lalani, Seema, additional, Laricchia, Kristen M., additional, Larkin, Kathryn E., additional, Leal, Suzanne M., additional, Lemire, Gabrielle, additional, Lewis, Richard A., additional, Li, He, additional, Ling, Hua, additional, Lipson, Rachel B., additional, Liu, Pengfei, additional, Lovgren, Alysia Kern, additional, López-Giráldez, Francesc, additional, MacMillan, Melissa P., additional, Mangilog, Brian E., additional, Mano, Stacy, additional, Marafi, Dana, additional, Marosy, Beth, additional, Marshall, Jamie L., additional, Martin, Renan, additional, Marvin, Colby T., additional, Mawhinney, Michelle, additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mehaffey, Michelle, additional, Mekonnen, Betselote, additional, Meng, Xiaolu, additional, Mitani, Tadahiro, additional, Miyake, Christina Y., additional, Mohr, David, additional, Morris, Shaine, additional, Mullen, Thomas E., additional, Murdock, David R., additional, Murugan, Mullai, additional, Muzny, Donna M., additional, Myers, Ben, additional, Neira, Juanita, additional, Nguyen, Kevin K., additional, Nielsen, Patrick M., additional, Nudelman, Natalie, additional, O’Heir, Emily, additional, O’Leary, Melanie C., additional, Ongaco, Chrissie, additional, Orange, Jordan, additional, Osei-Owusu, Ikeoluwa A., additional, Paine, Ingrid S., additional, Pais, Lynn S., additional, Paschall, Justin, additional, Patterson, Karynne, additional, Pehlivan, Davut, additional, Pelle, Benjamin, additional, Penney, Samantha, additional, Perez de Acha Chavez, Jorge, additional, Pierce-Hoffman, Emma, additional, Poli, Cecilia M., additional, Punetha, Jaya, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Rodrigues, Eliete, additional, Roote, Gwendolin T., additional, Rosenfeld, Jill A., additional, Ryke, Erica L., additional, Sabo, Aniko, additional, Sanchez, Alice, additional, Schrauwen, Isabelle, additional, Scott, Daryl A., additional, Sedlazeck, Fritz, additional, Serrano, Jillian, additional, Shaw, Chad A., additional, Shelford, Tameka, additional, Shively, Kathryn M., additional, Singer-Berk, Moriel, additional, Smith, Joshua D., additional, Snow, Hana, additional, Snyder, Grace, additional, Solomonson, Matthew, additional, Son, Rachel G., additional, Song, Xiaofei, additional, Stankiewicz, Pawel, additional, Stephan, Taylorlyn, additional, Sutton, V. Reid, additional, Sveden, Abigail, additional, Sánchez, Diana Cornejo, additional, Tackett, Monica, additional, Talkowski, Michael, additional, Threlkeld, Machiko S., additional, Tiao, Grace, additional, Udler, Miriam S., additional, Vail, Laura, additional, Valivullah, Zaheer, additional, Valkanas, Elise, additional, VanNoy, Grace E., additional, Wang, Qingbo S., additional, Wang, Gao, additional, Wang, Lu, additional, Wangler, Michael F., additional, Watts, Nicholas A., additional, Weisburd, Ben, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, White, Janson J., additional, Williamson, Clara E., additional, Wilson, Michael W., additional, Wiszniewski, Wojciech, additional, Withers, Marjorie A., additional, Witmer, Dane, additional, Witzgall, Lauren, additional, Wohler, Elizabeth, additional, Wojcik, Monica H., additional, Wong, Isaac, additional, Wood, Jordan C., additional, Wu, Nan, additional, Xing, Jinchuan, additional, Yang, Yaping, additional, Yi, Qian, additional, Yuan, Bo, additional, Zeiger, Jordan E., additional, Zhang, Chaofan, additional, Zhang, Peng, additional, Zhang, Yan, additional, Zhang, Xiaohong, additional, Zhang, Yeting, additional, Zhang, Shifa, additional, Zoghbi, Huda, additional, and van den Veyver, Igna, additional

Published
2022
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30. Additional file 1 of The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Author

Du, Haowei, Jolly, Angad, Grochowski, Christopher M., Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N., Li, He, Muzny, Donna, Fatih, Jawid M., Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E., Witzl, Karin, Posey, Jennifer E., Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P. J., Bi, Weimin, Gibbs, Richard A., Sedlazeck, Fritz J., Lupski, James R., Carvalho, Claudia M. B., and Liu, Pengfei

Abstract

Additional file 1. Supplementary methods, clinical description of BAB9637, BAB3097, and BAB9484, Table S1, S3, S5, S6, Figure S1-S9.

Published
2022
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31. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies

Author

Chen, Chun-An, primary, Lattier, John, additional, Zhu, Wenmiao, additional, Rosenfeld, Jill, additional, Wang, Lei, additional, Scott, Tiana M., additional, Du, Haowei, additional, Patel, Vipulkumar, additional, Dang, Anh, additional, Magoulas, Pilar, additional, Streff, Haley, additional, Sebastian, Jessica, additional, Svihovec, Shayna, additional, Curry, Kathryn, additional, Delgado, Mauricio R., additional, Hanchard, Neil A., additional, Lalani, Seema, additional, Marom, Ronit, additional, Madan-Khetarpal, Suneeta, additional, Saenz, Margarita, additional, Dai, Hongzheng, additional, Meng, Linyan, additional, Xia, Fan, additional, Bi, Weimin, additional, Liu, Pengfei, additional, Posey, Jennifer E., additional, Scott, Daryl A., additional, Lupski, James R., additional, Eng, Christine M., additional, Xiao, Rui, additional, and Yuan, Bo, additional

Published
2022
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32. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

Author

Marafi, Dana, primary, Fatih, Jawid M, additional, Kaiyrzhanov, Rauan, additional, Ferla, Matteo P, additional, Gijavanekar, Charul, additional, Al-Maraghi, Aljazi, additional, Liu, Ning, additional, Sites, Emily, additional, Alsaif, Hessa S, additional, Al-Owain, Mohammad, additional, Zakkariah, Mohamed, additional, El-Anany, Ehab, additional, Guliyeva, Ulviyya, additional, Guliyeva, Sughra, additional, Gaba, Colette, additional, Haseeb, Ateeq, additional, Alhashem, Amal M, additional, Danish, Enam, additional, Karageorgou, Vasiliki, additional, Beetz, Christian, additional, Subhi, Alaa A, additional, Mullegama, Sureni V, additional, Torti, Erin, additional, Sebastin, Monisha, additional, Breilyn, Margo Sheck, additional, Duberstein, Susan, additional, Abdel-Hamid, Mohamed S, additional, Mitani, Tadahiro, additional, Du, Haowei, additional, Rosenfeld, Jill A, additional, Jhangiani, Shalini N, additional, Coban Akdemir, Zeynep, additional, Gibbs, Richard A, additional, Taylor, Jenny C, additional, Fakhro, Khalid A, additional, Hunter, Jill V, additional, Pehlivan, Davut, additional, Zaki, Maha S, additional, Gleeson, Joseph G, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Posey, Jennifer E, additional, Sutton, V Reid, additional, Alkuraya, Fowzan S, additional, Elsea, Sarah H, additional, and Lupski, James R, additional

Published
2021
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33. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Author

Calame, Daniel G., primary, Fatih, Jawid M., additional, Herman, Isabella, additional, Coban‐Akdemir, Zeynep, additional, Du, Haowei, additional, Mitani, Tadahiro, additional, Jhangiani, Shalini N., additional, Marafi, Dana, additional, Gibbs, Richard A., additional, Posey, Jennifer E., additional, Mehta, Vidya P., additional, Mohila, Carrie A., additional, Abid, Farida, additional, Lotze, Timothy E., additional, Pehlivan, Davut, additional, Adesina, Adekunle M., additional, and Lupski, James R., additional

Published
2021
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34. An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

Author

Mc Cartney, Ann M., primary, Mahmoud, Medhat, additional, Jochum, Michael, additional, Agustinho, Daniel Paiva, additional, Zorman, Barry, additional, Al Khleifat, Ahmad, additional, Dabbaghie, Fawaz, additional, K Kesharwani, Rupesh, additional, Smolka, Moritz, additional, Dawood, Moez, additional, Albin, Dreycey, additional, Aliyev, Elbay, additional, Almabrazi, Hakeem, additional, Arslan, Ahmed, additional, Balaji, Advait, additional, Behera, Sairam, additional, Billingsley, Kimberley, additional, L Cameron, Daniel, additional, Daw, Joyjit, additional, T. Dawson, Eric, additional, De Coster, Wouter, additional, Du, Haowei, additional, Dunn, Christopher, additional, Esteban, Rocio, additional, Jolly, Angad, additional, Kalra, Divya, additional, Liao, Chunxiao, additional, Liu, Yunxi, additional, Lu, Tsung-Yu, additional, M Havrilla, James, additional, M Khayat, Michael, additional, Marin, Maximillian, additional, Monlong, Jean, additional, Price, Stephen, additional, Rafael Gener, Alejandro, additional, Ren, Jingwen, additional, Sagayaradj, Sagayamary, additional, Sapoval, Nicolae, additional, Sinner, Claude, additional, C. Soto, Daniela, additional, Soylev, Arda, additional, Subramaniyan, Arun, additional, Syed, Najeeb, additional, Tadimeti, Neha, additional, Tater, Pamella, additional, Vats, Pankaj, additional, Vaughn, Justin, additional, Walker, Kimberly, additional, Wang, Gaojianyong, additional, Zeng, Qiandong, additional, Zhang, Shangzhe, additional, Zhao, Tingting, additional, Kille, Bryce, additional, Biederstedt, Evan, additional, Chaisson, Mark, additional, English, Adam, additional, Kronenberg, Zev, additional, J. Treangen, Todd, additional, Hefferon, Timothy, additional, Chin, Chen-Shan, additional, Busby, Ben, additional, and J Sedlazeck, Fritz, additional

Published
2021
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35. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

Author

Grochowski, Christopher M., primary, Krepischi, Ana C. V., additional, Eisfeldt, Jesper, additional, Du, Haowei, additional, Bertola, Debora R., additional, Oliveira, Danyllo, additional, Costa, Silvia S., additional, Lupski, James R., additional, Lindstrand, Anna, additional, and Carvalho, Claudia M. B., additional

Published
2021
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36. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

Author

Calame, Daniel G., primary, Fatih, Jawid, additional, Herman, Isabella, additional, Akdemir, Zeynep Coban, additional, Du, Haowei, additional, Jhangiani, Shalini N., additional, Gibbs, Richard A., additional, Marafi, Dana, additional, Pehlivan, Davut, additional, Posey, Jennifer E., additional, Lotze, Timothy, additional, Mancias, Pedro, additional, Bhattacharjee, Meenakshi Bidwai, additional, and Lupski, James R., additional

Published
2021
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37. Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

Author

Mahmoud, Medhat, primary, Gener, Alejandro Rafael, additional, Khayat, Michael M., additional, English, Adam C., additional, Balaji, Advait, additional, Zhou, Anbo, additional, Hehn, Andreas, additional, Fungtammasan, Arkarachai, additional, Chrisman, Brianna Sierra, additional, Chin, Chen-Shan, additional, Lin, Chiao-Feng, additional, Lo, Chun-Hsuan, additional, Liao, Chunxiao, additional, Carvalho, Claudia M. B., additional, Diesh, Colin, additional, Symer, David E., additional, Kalra, Divya, additional, Albin, Dreycey, additional, Aliyev, Elbay, additional, Dawson, Eric T., additional, Venner, Eric, additional, Foertter, Fernanda, additional, Bae, Gigon, additional, Du, Haowei, additional, Daw, Joyjit, additional, Wang, Junzhou, additional, Akagi, Keiko, additional, Phan, Lon, additional, Jochum, Michael, additional, Edrisi, Mohammadamin, additional, Shah, Nirav N., additional, Wang, Qi, additional, Fullem, Robert, additional, Zheng, Rong, additional, Kalla, Sara E, additional, Mitra, Shakuntala, additional, Treangen, Todd J., additional, Mahaganapathy, Vaidhyanathan, additional, Malladi, Venkat Sai, additional, Menon, Vipin K, additional, Fu, Yilei, additional, Yin, Yongze, additional, Feng, Yuanqing, additional, Hefferon, Tim, additional, Sedlazeck, Fritz J., additional, and Busby, Ben, additional

Published
2020
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38. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy

Author

Marafi, Dana, primary, Mitani, Tadahiro, additional, Isikay, Sedat, additional, Hertecant, Jozef, additional, Almannai, Mohammed, additional, Manickam, Kandamurugu, additional, Abou Jamra, Rami, additional, El‐Hattab, Ayman W., additional, Rajah, Jaishen, additional, Fatih, Jawid M., additional, Du, Haowei, additional, Karaca, Ender, additional, Bayram, Yavuz, additional, Punetha, Jaya, additional, Rosenfeld, Jill A., additional, Jhangiani, Shalini N., additional, Boerwinkle, Eric, additional, Akdemir, Zeynep C., additional, Erdin, Serkan, additional, Hunter, Jill V., additional, Gibbs, Richard A., additional, Pehlivan, Davut, additional, Posey, Jennifer E., additional, and Lupski, James R., additional

Published
2020
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39. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Author

Mitani, Tadahiro, primary, Punetha, Jaya, additional, Akalin, Ibrahim, additional, Pehlivan, Davut, additional, Dawidziuk, Mateusz, additional, Coban Akdemir, Zeynep, additional, Yilmaz, Sarenur, additional, Aslan, Ezgi, additional, Hunter, Jill V., additional, Hijazi, Hadia, additional, Grochowski, Christopher M., additional, Jhangiani, Shalini N., additional, Karaca, Ender, additional, Fatih, Jawid M., additional, Iwanowski, Piotr, additional, Gambin, Tomasz, additional, Wlasienko, Pawel, additional, Goszczanska-Ciuchta, Alicja, additional, Bekiesinska-Figatowska, Monika, additional, Hosseini, Masoumeh, additional, Arzhangi, Sanaz, additional, Najmabadi, Hossein, additional, Rosenfeld, Jill A., additional, Du, Haowei, additional, Marafi, Dana, additional, Blaser, Susan, additional, Teitelbaum, Ronni, additional, Silver, Rachel, additional, Posey, Jennifer E., additional, Ropers, Hans-Hilger, additional, Gibbs, Richard A., additional, Wiszniewski, Wojciech, additional, Lupski, James R., additional, Chitayat, David, additional, Kahrizi, Kimia, additional, and Gawlinski, Pawel, additional

Published
2019
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40. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

Author

Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, and Lupski, James R

Published
2024
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41. Biallelic loss-of-function variants in the splicing regulator NSRP1cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Author

Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., and Lupski, James R.

Abstract

Alternative splicing plays a critical role in mouse neurodevelopment, regulating neurogenesis, cortical lamination, and synaptogenesis, yet few human neurodevelopmental disorders are known to result from pathogenic variation in splicing regulator genes. Nuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a ubiquitously expressed splicing regulator not known to underlie a Mendelian disorder.

Published
2021
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42. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

Author

Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, and Hunter, Jill V.

Subjects
CEREBRAL atrophy, NEUROTRANSMITTER receptors, GLUTAMATE receptors, NEURAL transmission, EPILEPSY, LEUKODYSTROPHY, NEUROCYSTICERCOSIS
Abstract

Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G‐protein‐coupled glutamate receptor critical for synaptic transmission. We previously proposed GRM7 as a candidate disease gene in two families with neurodevelopmental disorders (NDDs). One additional family has been published since. Here, we describe three additional families with GRM7 biallelic variants and deeply characterize the associated clinical neurological and electrophysiological phenotype and molecular data in 11 affected individuals from six unrelated families. Methods: Exome sequencing and family‐based rare variant analyses on a cohort of 220 consanguineous families with NDDs revealed three families with GRM7 biallelic variants; three additional families were identified through literature search and collaboration with a clinical molecular laboratory. Results: We compared the observed clinical features and variants of 11 affected individuals from the six unrelated families. Identified novel deleterious variants included two homozygous missense variants (c.2671G>A:p.Glu891Lys and c.1973G>A:p.Arg685Gln) and one homozygous stop‐gain variant (c.1975C>T:p.Arg659Ter). Developmental delay, neonatal‐ or infantile‐onset epilepsy, and microcephaly were universal. Three individuals had hypothalamic–pituitary–axis dysfunction without pituitary structural abnormality. Neuroimaging showed cerebral atrophy and hypomyelination in a majority of cases. Two siblings demonstrated progressive loss of myelination by 2 years in both and an acquired microcephaly pattern in one. Five individuals died in early or late childhood. Conclusion: Detailed clinical characterization of 11 individuals from six unrelated families demonstrates that rare biallelic GRM7 pathogenic variants can cause DEEs, microcephaly, hypomyelination, and cerebral atrophy. [ABSTRACT FROM AUTHOR]

Published
2020
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44. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Author

Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Genomics, Baylor-Hopkins Center for Mendelian, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R, and Baylor-Hopkins Center for Mendelian Genomics

Subjects
DEVELOPMENTAL delay, ATROPHY, MEDICAL genetics, MOLECULAR genetics, GENOMICS, RESEARCH, GENETIC mutation, RESEARCH methodology, EVALUATION research, MEDICAL cooperation, COMPARATIVE studies, CEREBELLUM diseases, RESEARCH funding
Published
2020
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45. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

Author

Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G, Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, and Lupski JR

Abstract

Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamilial heterogeneity highlight the complexity of the underlying genetic pathogenesis of these developmental anomalies. Family-based genomics by exome sequencing (ES) and rare variant analyses combined with whole-genome array-based comparative genomic hybridization were implemented to investigate 18 families with limb birth defects. Eleven of 18 (61%) families revealed explanatory variants, including 7 single-nucleotide variant alleles and 3 copy number variants (CNVs), at previously reported "disease trait associated loci": BHLHA9 , GLI3, HOXD cluster, HOXD13 , NPR2 , and WNT10B . Breakpoint junction analyses for all three CNV alleles revealed mutational signatures consistent with microhomology-mediated break-induced replication, a mechanism facilitated by Alu/Alu -mediated rearrangement. Homozygous duplication of BHLHA9 was observed in one Turkish kindred and represents a novel contributory genetic mechanism to Gollop-Wolfgang Complex (MIM: 228250), where triplication of the locus has been reported in one family from Japan (i.e., 4n = 2n + 2n versus 4n = 3n + 1n allelic configurations). Genes acting on limb patterning are sensitive to a gene dosage effect and are often associated with an allelic series. We extend an allele-specific gene dosage model to potentially assist, in an adjuvant way, interpretations of interconnections among an allelic series, clinical severity, and reduced penetrance of the BHLHA9 -related CLM spectrum., Competing Interests: J.R.L. has stock ownership in 23andMe, is a paid consultant for the Regeneron Genetics Center, and is a co-inventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing and genomic testing (ES, WGS, CMA, and aCGH) conducted at Baylor Genetics (BG). J.R.L. serves on the Scientific Advisory Board (SAB) of BG., (© 2022 The Author(s).)

Published
2022
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46. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Author

Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, and Lupski JR

Subjects
Glutamine metabolism, Histidine metabolism, Humans, Metabolome, Nitrogen metabolism, Epilepsy, Generalized diagnosis, Epilepsy, Generalized genetics, Sodium-Calcium Exchanger genetics
Abstract

The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in the mammalian brain; defects in nearly 100 unique SLC-encoding genes (OMIM: https://www.omim.org) are associated with rare Mendelian disorders including developmental and epileptic encephalopathy and severe neurodevelopmental disorders. Exome sequencing and family-based rare variant analyses on a cohort with neurodevelopmental disorders identified two siblings with developmental and epileptic encephalopathy and a shared deleterious homozygous splicing variant in SLC38A3. The gene encodes SNAT3, a sodium-coupled neutral amino acid transporter and a principal transporter of the amino acids asparagine, histidine, and glutamine, the latter being the precursor for the neurotransmitters GABA and glutamate. Additional subjects with a similar developmental and epileptic encephalopathy phenotype and biallelic predicted-damaging SLC38A3 variants were ascertained through GeneMatcher and collaborations with research and clinical molecular diagnostic laboratories. Untargeted metabolomic analysis was performed to identify novel metabolic biomarkers. Ten individuals from seven unrelated families from six different countries with deleterious biallelic variants in SLC38A3 were identified. Global developmental delay, intellectual disability, hypotonia, and absent speech were common features while microcephaly, epilepsy, and visual impairment were present in the majority. Epilepsy was drug-resistant in half. Metabolomic analysis revealed perturbations of glutamate, histidine, and nitrogen metabolism in plasma, urine, and CSF of selected subjects, potentially representing biomarkers of disease. Our data support the contention that SLC38A3 is a novel disease gene for developmental and epileptic encephalopathy and illuminate the likely pathophysiology of the disease as perturbations in glutamine homeostasis., (© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Published
2022
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47. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Author

Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, and Carvalho CMB

Abstract

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated ( DVL1 , DVL3 , FZD2 , NXN , ROR2 , and WNT5A ). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families. Pathogenic or likely pathogenic variants in genes associated with RS or RS phenocopies were identified in all 22 individuals, including the first variant to be reported in DVL2 . We retrospectively collected medical records of 16 individuals from this cohort and extracted clinical descriptions from 52 previously published cases. We performed Human Phenotype Ontology (HPO) based quantitative phenotypic analyses to dissect allele-specific phenotypic differences. Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1 , DVL2 , and DVL3 variants, demonstrating no phenotypic distinction between the NXN -autosomal recessive and dominant forms of RS. While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A , FZD2 , and ROR2 apart from non-RS-associated paralogs. Through human phenotype analyses of this RS cohort and OMIM clinical synopses of Mendelian disease, this study begins to tease apart specific biologic roles for non-canonical WNT-pathway proteins., Competing Interests: BCM and Miraca Holdings have formed a joint venture with shared ownership and governance of BG, which performs clinical microarray analysis (CMA), clinical ES (cES), and clinical biochemical studies. V.R.S. and P.L. receive professional services compensation from BG and J.R.L. serves on the Scientific Advisory Board of the BG. J.R.L. has stock ownership in 23andMe, is a paid consultant for the Regeneron Genetics Center, and is a coinventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. W.K.C. is a is a paid consultant for the Regeneron Genetics Center. P.C.S. and S.M. are employees of GeneDx. The other authors declare no competing interests., (© 2021 The Author(s).)

Published
2021
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