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1. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)

Author

Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Jamra, Rami Abou, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna CE, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Medicine, Rady Children's Institute for Genomic, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell’Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, and Earl, Dawn

Subjects
Biotechnology, Brain Disorders, Genetics, Neurosciences, Clinical Research, Rare Diseases, Eye Disease and Disorders of Vision, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Child, Endocannabinoids, Phenotype, Nervous System Diseases, Heterozygote, Syndrome, Mutant Proteins, endocannabinoid, episodic ataxia, paroxysmal tonic upgaze, nystagmus, developmental delay, Rady Children's Institute for Genomic Medicine, Undiagnosed Disease Network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All children displayed paroxysms of nystagmus or eye deviation accompanied by compensatory head posture and worsened incoordination most frequently after waking. RNA sequencing showed clear expression of the truncated transcript and no differences were found between mutant and wild-type DAGLA activity. Immunofluorescence staining of patient-derived fibroblasts and HEK cells expressing the mutant protein showed distinct perinuclear aggregation not detected in control samples. This report establishes truncating variants in the last DAGLA exon as the cause of a unique paediatric syndrome. Because enzymatic activity was preserved, the observed mislocalization of the truncated protein may account for the observed phenotype. Potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect. To our knowledge, this is the first report directly linking an endocannabinoid system component with human genetic disease and sets the stage for potential future therapeutic avenues.

Published
2022

2. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Author

Shankar, Suma P, Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G, Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R, Schaffrath, Raffael, Alkuraya, Fowzan S, Brinkmann, Ulrich, Eriksson, Leif A, Lloyd, Kent, Rauen, Katherine A, Network, Undiagnosed Diseases, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L, and Fisher, Paul G

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Human Genome, 2.1 Biological and endogenous factors, Adenosine Diphosphate, Animals, Histidine, Humans, Methyltransferases, Mice, Mice, Inbred C57BL, Neurodevelopmental Disorders, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Syndrome, Nonverbal neurodevelopment delays, Novel gene discovery, Precision animal modeling, Precision genomics, Translational genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity
Abstract

PurposeDiphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5 as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).MethodsMolecular testing was performed using exome or genome sequencing. A targeted Dph5 knockin mouse (C57BL/6Ncrl-Dph5em1Mbp/Mmucd) was created for a DPH5 p.His260Arg homozygous variant identified in 1 family. Adenosine diphosphate-ribosylation assays in DPH5-knockout human and yeast cells and in silico modeling were performed for the identified DPH5 potential pathogenic variants.ResultsDPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages. Dph5 p.His260Arg homozygous knockin was embryonically lethal with only 1 subviable mouse exhibiting impaired growth, craniofacial dysmorphology, and multisystem dysfunction recapitulating the human phenotype. Adenosine diphosphate-ribosylation assays showed absent to decreased function in DPH5-knockout human and yeast cells. In silico modeling of the variants showed altered DPH5 structure and disruption of its interaction with eEF2.ConclusionWe provide strong clinical, biochemical, and functional evidence for DPH5 as a novel cause of embryonic lethality or profound NDDs with multisystem involvement and expand diphthamide-deficiency syndromes and ribosomopathies.

Published
2022

3. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Author

McConkie‐Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Spillmann, Rebecca C, Cope, Heidi, Tan, Queenie K‐G, Palmer, Christina GS, Hooper, Stephen R, Shashi, Vandana, Acosta, Maria T, Adam, Margaret, Adams, David R, Agrawal, Pankaj B, Alejandro, Mercedes E, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg‐Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D, Draper, David D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Findley, Laurie C, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, and Godfrey, Rena A

Subjects
Pediatric, Biotechnology, Human Genome, Clinical Research, Genetics, Good Health and Well Being, Child, Delivery of Health Care, Family, Genomics, Humans, Parents, Exome Sequencing, exome and genomic sequencing, undiagnosed disorders, healthcare empowerment, genetic counseling, parental perspectives, rare disorders, Undiagnosed Disease Network, Clinical Sciences, Genetics & Heredity
Abstract

The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to understand and seek new information related to the genomic sequencing, manage emotions related to the diagnostic process and outcomes, and utilize genomic sequencing information to the betterment of the individual/child and family. The GEmS consists of four scales, two are primarily emotion-focused (Meaning of a Diagnosis, and Emotional Management of the Process) and two are action-oriented (Seeking Information and Support, and Implications and Planning). The purpose of this research was to provide a strategy for interpreting results from the GEmS and present illustrative cases. These illustrations should serve to facilitate use of the GEmS in the clinical and research arena, particularly with respect to guiding genetic counseling processes for parents of children with undiagnosed conditions.

Published
2022

4. The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease

Author

Carmody, Leigh C., Gargano, Michael A., Toro, Sabrina, Vasilevsky, Nicole A., Adam, Margaret P., Blau, Hannah, Chan, Lauren E., Gomez-Andres, David, Horvath, Rita, Kraus, Megan L., Ladewig, Markus S., Lewis-Smith, David, Lochmüller, Hanns, Matentzoglu, Nicolas A., Munoz-Torres, Monica C., Schuetz, Catharina, Seitz, Berthold, Similuk, Morgan N., Sparks, Teresa N., Strauss, Timmy, Swietlik, Emilia M., Thompson, Rachel, Zhang, Xingmin Aaron, Mungall, Christopher J., Haendel, Melissa A., and Robinson, Peter N.

Published
2023
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5. A dyadic approach to the delineation of diagnostic entities in clinical genomics

Author

Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata JM, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, and Zarate, Yuri A

Subjects
Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a recognizably distinct phenotype. We assert that only by a combinatorial or dyadic approach taking both of these attributes into account can a unitary, distinct genetic disorder be designated. We propose that all Mendelian disorders should be designated as "GENE-related phenotype descriptor" (e.g., "CFTR-related cystic fibrosis"). This approach to delineating and naming disorders reconciles the complexity of gene-to-phenotype relationships in a simple and clear manner yet communicates the complexity and nuance of these relationships.

Published
2021

6. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Author

Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., and Weaver, K. Nicole

Published
2023
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7. Fetal Alcohol Spectrum Disorders in a Pacific Southwest City: Maternal and Child Characteristics

Author

Chambers, Christina D, Coles, Claire, Kable, Julie, Akshoomoff, Natacha, Xu, Ronghui, Zellner, Jennifer A, Honerkamp‐Smith, Gordon, Manning, Melanie A, Adam, Margaret P, and Jones, Kenneth Lyons

Subjects
Perinatal Period - Conditions Originating in Perinatal Period, Behavioral and Social Science, Alcoholism, Alcohol Use and Health, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Fetal Alcohol Spectrum Disorders (FASD), Conditions Affecting the Embryonic and Fetal Periods, Prevention, Substance Misuse, Mental health, Good Health and Well Being, Adult, Case-Control Studies, Child, Cities, Female, Fetal Alcohol Spectrum Disorders, Humans, Male, Mothers, Risk Factors, Southwestern United States, Young Adult, Prevalence, Pregnant Women, Prenatal Alcohol Use, Clinical Sciences, Neurosciences, Psychology, Substance Abuse
Abstract

BACKGROUND:There are limited data on the characteristics of children with fetal alcohol spectrum disorders (FASD) and their mothers from the general population in the United States. METHODS:During the 2012 and 2013 academic years, first-grade children in a large urban Pacific Southwest city were invited to participate in a study to estimate the prevalence of FASD. Children who screened positive on weight, height, or head circumference ≤25th centile or on parental report of developmental concerns were selected for evaluation, along with a random sample of those who screened negative. These children were examined for dysmorphology and neurobehavior and their mothers or collateral sources were interviewed. Children were classified as fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), alcohol-related neurodevelopmental disorder (ARND), or No FASD. RESULTS:A total of 854 children were evaluated; 5 FAS, 44 pFAS, 44 ARND, and 761 No FASD. Children with FAS or pFAS were more likely to have dysmorphic features, and 32/49 (65.3%) of those met criteria for neurobehavioral impairment on cognitive measures with or without behavioral deficits. In contrast, 28/44 (63.6%) of children with ARND met criteria on behavioral measures alone. Mothers of FASD children were more likely to recognize pregnancy later, be unmarried, and report other substance use or psychiatric disorders, but did not differ on age, socioeconomic status, education, or parity. Mothers of FASD children reported more drinks/drinking day each trimester. The risk of FASD was elevated with increasing number of drinks/drinking day prior to pregnancy recognition, even at the level of 1 drink per day (adjusted odds ratio 3.802, 95% confidence interval 1.634, 8.374). CONCLUSIONS:Data from this general population sample in a large urban region in the United States demonstrate the variability of expression of FASD and point to risk and protective factors for mothers in this setting.

Published
2019

8. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Author

Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Jr., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, and Weksberg, Rosanna

Published
2022
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9. Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Author

Carter, Lauren B, Battaglia, Agatino, Cherry, Athena, Manning, Melanie A, Ruzhnikov, Maura RZ, Bird, Lynne M, Dowsett, Leah, Graham, John M, Alkuraya, Fowzan S, Hashem, Mais, Dinulos, Mary Beth, Vallee, Stephanie, Adam, Margaret P, Glass, Ian, Beck, Anita E, Stevens, Cathy A, Zackai, Elaine, McDougall, Carey, Keena, Beth, Peron, Angela, Vignoli, Aglaia, Seaver, Laurie H, Slavin, Thomas P, and Hudgins, Louanne

Subjects
Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, Epilepsy, Neurosciences, Clinical Research, Pediatric, Brain Disorders, Neurodegenerative, Physical Injury - Accidents and Adverse Effects, Intellectual and Developmental Disabilities (IDD), Preterm, Low Birth Weight and Health of the Newborn, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Mental health, Neurological, Good Health and Well Being, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 1, Diagnosis, Differential, Female, Humans, Hypoxia-Ischemia, Brain, Infant, Newborn, Male, Phenotype, Pregnancy, Psychological Distress, 1p36, distress, hypoxic ischemic encephalopathy, Genetics, Clinical Sciences
Abstract

1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these individuals by Battaglia et al., "birth history was notable in 50% of the cases for varying degrees of perinatal distress." Given the potential for perinatal distress, seizures and PVL, we questioned if this disorder has clinical overlap with hypoxic ischemic encephalopathy (HIE). We reviewed the medical records of 69 individuals with 1p36 deletion to clarify the perinatal phenotype of this disorder and determine if there is evidence of perinatal distress and/or hypoxic injury. Our data provides evidence that these babies have signs of perinatal distress. The majority (59% term; 75% preterm) needed resuscitation and approximately 18% had cardiac arrest. Most had abnormal brain imaging (84% term; 73% preterm) with abnormal white matter findings in over half of patients. PVL or suggestion of "hypoxic insult" was present in 18% of term and 45% of preterm patients. In conclusion, individuals with 1p36 deletion have evidence of perinatal distress, white matter changes, and seizures, which can mimic HIE but are likely related to their underlying chromosome disorder.

Published
2019

10. Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.

Author

Chambers, Christina D, Johnson, Diana L, Xu, Ronghui, Luo, Yunjun, Lopez-Jimenez, Janina, Adam, Margaret P, Braddock, Stephen R, Robinson, Luther K, Vaux, Keith, Lyons Jones, Kenneth, and OTIS Collaborative Research Group

Subjects
OTIS Collaborative Research Group, Humans, Pregnancy Complications, Antirheumatic Agents, Pregnancy Outcome, Odds Ratio, Risk Factors, Maternal Exposure, Pregnancy, Adult, Middle Aged, Female, Live Birth, Congenital Abnormalities, Young Adult, Adalimumab, General Science & Technology
Abstract

BACKGROUND:Information is needed on the safety of adalimumab when used in pregnancy for the treatment of certain autoimmune diseases. METHODS AND FINDINGS:Between 2004 and 2016, the Organization of Teratology Information Specialists Research Center at the University of California San Diego conducted a prospective controlled observational cohort study in 602 pregnant women who had or had not taken adalimumab. Women in the adalimumab-exposed cohort had received at least one dose of the drug in the first trimester for the treatment of rheumatoid arthritis or Crohn's Disease (N = 257). Women in the disease comparison cohort had not used adalimumab in pregnancy (N = 120). Women in the healthy comparison cohort had no rheumatic or inflammatory bowel diseases (N = 225). Women and their infants were followed to one year postpartum with maternal interviews, medical records abstraction, and physical examinations. Study outcomes were major structural birth defects, minor defects, spontaneous abortion, preterm delivery, pre and post-natal growth deficiency, serious or opportunistic infections and malignancies. 42/602 (7.0%) of pregnancies were lost-to-follow-up. 22/221 (10.0%) in the adalimumab-exposed cohort had a live born infant with a major birth defect compared to 8/106 (7.5%) in the diseased unexposed cohort (adjusted odds ratio 1.10, 95% confidence interval [CI] 0.45 to 2.73). Women in the adalimumab-exposed cohort were more likely to deliver preterm compared to the healthy cohort (adjusted hazard ratio [aHR] 2.59, 95% CI 1.22 to 5.50), but not compared to the diseased unexposed cohort (aHR 0.82, 95% CI 0.66 to 7.20). No significant increased risks were noted with adalimumab exposure for any other study outcomes. CONCLUSIONS:Adalimumab exposure in pregnancy compared to diseased unexposed pregnancies was not associated with an increased risk for any of the adverse outcomes examined. Women with rheumatoid arthritis or Crohn's Disease were at increased risk of preterm delivery, irrespective of adalimumab exposure.

Published
2019

11. Maternal risk factors for fetal alcohol spectrum disorders: Distal variables

Author

May, Philip A., primary, Hasken, Julie M., additional, de Vries, Marlene M., additional, Marais, Anna‐Susan, additional, Abdul‐Rahman, Omar, additional, Robinson, Luther K., additional, Adam, Margaret P., additional, Manning, Melanie A., additional, Kalberg, Wendy O., additional, Buckley, David, additional, Snell, Cudore L., additional, Seedat, Soraya, additional, Parry, Charles D. H., additional, and Hoyme, H. Eugene, additional

Published
2024
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12. Estimating the community prevalence, child traits, and maternal risk factors of fetal alcohol spectrum disorders (FASD) from a random sample of school children

Author

May, Philip A., Hasken, Julie M., Hooper, Stephen R., Hedrick, Dixie M., Jackson-Newsom, Julia, Mullis, Chalise E., Dobyns, Elizabeth, Kalberg, Wendy O., Buckley, David, Robinson, Luther K., Abdul-Rahman, Omar, Adam, Margaret P., Manning, Melanie A., Jewett, Tamison, and Hoyme, H. Eugene

Published
2021
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14. The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

Author

Freed, Amanda S., Clowes Candadai, Sarah V., Sikes, Megan C., Thies, Jenny, Byers, Heather M., Dines, Jennifer N., Ndugga-Kabuye, Mesaki Kenneth, Smith, Mallory B., Fogus, Katie, Mefford, Heather C., Lam, Christina, Adam, Margaret P., Sun, Angela, McGuire, John K., DiGeronimo, Robert, Dipple, Katrina M., Deutsch, Gail H., Billimoria, Zeenia C., and Bennett, James T.

Published
2020
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15. Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

Author

Hoyme, H Eugene, Kalberg, Wendy O, Elliott, Amy J, Blankenship, Jason, Buckley, David, Marais, Anna-Susan, Manning, Melanie A, Robinson, Luther K, Adam, Margaret P, Abdul-Rahman, Omar, Jewett, Tamison, Coles, Claire D, Chambers, Christina, Jones, Kenneth L, Adnams, Colleen M, Shah, Prachi E, Riley, Edward P, Charness, Michael E, Warren, Kenneth R, and May, Philip A

Subjects
Reproductive Medicine, Biomedical and Clinical Sciences, Brain Disorders, Alcoholism, Alcohol Use and Health, Fetal Alcohol Spectrum Disorders (FASD), Neurosciences, Conditions Affecting the Embryonic and Fetal Periods, Perinatal Period - Conditions Originating in Perinatal Period, Intellectual and Developmental Disabilities (IDD), Substance Misuse, Pediatric, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Mental health, Reproductive health and childbirth, Good Health and Well Being, Adolescent, Alcohol Drinking, Child, Child, Preschool, Diagnosis, Differential, Fetal Alcohol Spectrum Disorders, Humans, Infant, Infant, Newborn, Maternal Behavior, Neuropsychological Tests, Pediatrics, Physical Examination, Physician's Role, Sensitivity and Specificity, Medical and Health Sciences, Psychology and Cognitive Sciences, Biomedical and clinical sciences, Health sciences, Psychology
Abstract

The adverse effects of prenatal alcohol exposure constitute a continuum of disabilities (fetal alcohol spectrum disorders [FASD]). In 1996, the Institute of Medicine established diagnostic categories delineating the spectrum but not specifying clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical guidelines operationalizing the Institute of Medicine categories, allowing for standardization of FASD diagnoses in clinical settings. The purpose of the current report is to present updated diagnostic guidelines based on a thorough review of the literature and the authors' combined expertise based on the evaluation of >10 000 children for potential FASD in clinical settings and in epidemiologic studies in conjunction with National Institute on Alcohol Abuse and Alcoholism-funded studies, the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, and the Collaboration on FASD Prevalence. The guidelines were formulated through conference calls and meetings held at National Institute on Alcohol Abuse and Alcoholism offices in Rockville, MD. Specific areas addressed include the following: precise definition of documented prenatal alcohol exposure; neurobehavioral criteria for diagnosis of fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder; revised diagnostic criteria for alcohol-related birth defects; an updated comprehensive research dysmorphology scoring system; and a new lip/philtrum guide for the white population, incorporating a 45-degree view. The guidelines reflect consensus among a large and experienced cadre of FASD investigators in the fields of dysmorphology, epidemiology, neurology, psychology, developmental/behavioral pediatrics, and educational diagnostics. Their improved clarity and specificity will guide clinicians in accurate diagnosis of infants and children prenatally exposed to alcohol.

Published
2016

16. Maternal and paternal risk factors for fetal alcohol spectrum disorders: Alcohol and other drug use as proximal influences

Author

May, Philip A., primary, Hasken, Julie M., additional, de Vries, Marlene M., additional, Marais, Anna‐Susan, additional, Abdul‐Rahman, Omar, additional, Robinson, Luther K., additional, Adam, Margaret P., additional, Manning, Melanie A., additional, Kalberg, Wendy O., additional, Buckley, David, additional, Seedat, Soraya, additional, Parry, Charles D. H., additional, and Hoyme, H. Eugene, additional

Published
2023
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18. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

Author

Verscaj, Courtney P., Velez‐Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J., Thorson, Willa, Tan, Wen‐Hann, Rodig, Nancy, Graham, John M., Peron, Angela, Quintero‐Rivera, Fabiola, Zackai, Elaine H., Thomas, Mary Ann, Stevens, Cathy A., Adam, Margaret P., Bird, Lynne M., Jones, Marilyn C., and Matalon, Dena R.

Abstract

Objective: Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract (CAKUT), maturity onset diabetes of the young, type 5, and neurodevelopmental disorders. Structural and/or functional renal disease is the most common phenotypic feature, although the prenatal renal phenotypes and the postnatal correlates have not been well characterized. Method: We reviewed pre‐ and postnatal medical records of 26 cases with prenatally or postnatally identified 17q12/HNF1B microdeletions (by chromosomal microarray or targeted gene sequencing), obtained through a multicenter collaboration. We specifically evaluated 17 of these cases (65%) with reported prenatal renal ultrasound findings. Results: Heterogeneous prenatal renal phenotypes were noted, most commonly renal cysts (41%, n = 7/17) and echogenic kidneys (41%), although nonspecific dysplasia, enlarged kidneys, hydronephrosis, pelvic kidney with hydroureter, and lower urinary tract obstruction were also reported. Postnatally, most individuals developed renal cysts (73%, 11/15 live births), and there were no cases of end‐stage renal disease during childhood or the follow‐up period. Conclusion: Our findings demonstrate that copy number variant analysis to assess for 17q12 microdeletion should be considered for a variety of prenatally detected renal anomalies. It is important to distinguish 17q12 microdeletion from other etiologies of CAKUT as the prognosis for renal function and presence of associated findings are distinct and may influence pregnancy and postnatal management. Key points: What is already known about this topic? Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including renal abnormalities.Cystic renal changes, including cystic dysplasia, are the most commonly reported association postnatally. Hyperechogenic kidneys have been associated prenatally. What does this study add? This study broadens the spectrum of prenatal renal anomalies associated with 17q12 deletions.Despite prenatal onset of renal abnormalities, we demonstrate that individuals with 17q12 deletions displayed no progression to end‐stage renal disease during the postnatal follow‐up period. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Author

Verscaj, Courtney P., primary, Velez‐Bartolomei, Frances, additional, Bodle, Ethan, additional, Chan, Katie, additional, Lyons, Michael J., additional, Thorson, Willa, additional, Tan, Wen‐Hann, additional, Rodig, Nancy, additional, Graham, John M., additional, Peron, Angela, additional, Quintero‐Rivera, Fabiola, additional, Zackai, Elaine H., additional, Thomas, Mary Ann, additional, Stevens, Cathy A., additional, Adam, Margaret P., additional, Bird, Lynne M., additional, Jones, Marilyn C., additional, and Matalon, Dena R., additional

Published
2023
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20. The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

Author

Carmody, Leigh C, primary, Gargano, Michael A, additional, Toro, Sabrina, additional, Vasilevsky, Nicole A, additional, Adam, Margaret P, additional, Blau, Hannah, additional, Chan, Lauren E, additional, Gomez-Andres, David, additional, Horvath, Rita, additional, Kraus, Megan L, additional, Ladewig, Markus S, additional, Lewis-Smith, David, additional, Lochmüller, Hanns, additional, Matentzoglu, Nicolas A, additional, Munoz-Torres, Monica C, additional, Schuetz, Catharina, additional, Seitz, Berthold, additional, Similuk, Morgan N, additional, Sparks, Teresa N, additional, Strauss, Timmy, additional, Swietlik, Emilia M, additional, Thompson, Rachel, additional, Zhang, Xingmin Aaron, additional, Mungall, Christopher J, additional, Haendel, Melissa A, additional, and Robinson, Peter N, additional

Published
2023
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21. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Author

Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, DDD Study, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, and Liu, Pengfei

Published
2019
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23. Mowat-Wilson syndrome: growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, and Garavelli, Livia

Published
2020
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25. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Author

Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, and Garavelli, Livia

Published
2018
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26. Perspectives on the future of dysmorphology

Author

Solomon, Benjamin D., primary, Adam, Margaret P., additional, Fong, Chin‐To, additional, Girisha, Katta M., additional, Hall, Judith G., additional, Hurst, Anna C. E., additional, Krawitz, Peter M., additional, Moosa, Shahida, additional, Phadke, Shubha R., additional, Tekendo‐Ngongang, Cedrik, additional, and Wenger, Tara L., additional

Published
2022
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28. Integration of child life services in the delivery of multi-disciplinary differences in Sexual Development (DSD) and Congenital Adrenal Hyperplasia (CAH) care

Author

Cheng, Julie W., primary, McCauley, Elizabeth, additional, Nicassio, Lauren N., additional, Fechner, Patricia Y., additional, Amies Oelschlager, Anne-Marie E., additional, Adam, Margaret P., additional, Fisher, Christina, additional, Wetzler, Joanne, additional, Kinsinger, Rachel, additional, Nelson, Paige, additional, McCune, Nancy, additional, Cain, Mark P., additional, and Shnorhavorian, Margarett, additional

Published
2022
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31. Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities

Author

May, Philip A., Chambers, Christina D., Kalberg, Wendy O., Zellner, Jennifer, Feldman, Haruna, Buckley, David, Kopald, David, Hasken, Julie M., Xu, Ronghui, Honerkamp-Smith, Gordon, Taras, Howard, Manning, Melanie A., Robinson, Luther K., Adam, Margaret P., Abdul-Rahman, Omar, Vaux, Keith, Jewett, Tamison, Elliott, Amy J., Kable, Julie A., Akshoomoff, Natacha, Falk, Daniel, Arroyo, Judith A., Hereld, Dale, Riley, Edward P., Charness, Michael E., Coles, Claire D., Warren, Kenneth R., Jones, Kenneth Lyons, and Hoyme, H. Eugene

Published
2018
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34. Perspectives on the future of dysmorphology.

Author

Solomon, Benjamin D., Adam, Margaret P., Fong, Chin‐To, Girisha, Katta M., Hall, Judith G., Hurst, Anna C. E., Krawitz, Peter M., Moosa, Shahida, Phadke, Shubha R., Tekendo‐Ngongang, Cedrik, and Wenger, Tara L.

Abstract

The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have upended the field and offered fascinating new insights. Though difficult to predict the precise paths the field will follow, rapid change may continue to be inevitable. Within genetics, the practice of dysmorphology, as defined by pioneering geneticist David W. Smith in the 1960s as "the study of, or general subject of abnormal development of tissue form" has also been affected by technological advances as well as more general trends in biomedicine. To address possibilities, potential, and perils regarding the future of dysmorphology, a group of clinical geneticists, representing different career stages, areas of focus, and geographic regions, have contributed to this piece by providing insights about how the practice of dysmorphology will develop over the next several decades. [ABSTRACT FROM AUTHOR]

Published
2023
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35. Characteristic physical traits of first‐grade children in the United States with fetal alcohol spectrum disorders ( FASD ) and associated alcohol and drug exposures

Author

May, Philip A., primary, Hasken, Julie M., additional, Manning, Melanie A., additional, Robinson, Luther K., additional, Abdul‐Rahman, Omar, additional, Adam, Margaret P., additional, Jewett, Tamison, additional, Elliott, Amy J., additional, Kalberg, Wendy O., additional, Buckley, David, additional, and Hoyme, H. Eugene, additional

Published
2022
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40. Response to Hamosh et al.

Author

Biesecker, Leslie G., primary, Adam, Margaret P., additional, Alkuraya, Fowzan S., additional, Amemiya, Anne R., additional, Bamshad, Michael J., additional, Beck, Anita E., additional, Bennett, James T., additional, Bird, Lynne M., additional, Carey, John C., additional, Chung, Brian, additional, Clark, Robin D., additional, Cox, Timothy C., additional, Curry, Cynthia, additional, Dinulos, Mary Beth Palko, additional, Dobyns, William B., additional, Giampietro, Philip F., additional, Girisha, Katta M., additional, Glass, Ian A., additional, Graham, John M., additional, Gripp, Karen W., additional, Haldeman-Englert, Chad R., additional, Hall, Bryan D., additional, Innes, A. Micheil, additional, Kalish, Jennifer M., additional, Keppler-Noreuil, Kim M., additional, Kosaki, Kenjiro, additional, Kozel, Beth A., additional, Mirzaa, Ghayda M., additional, Mulvihill, John J., additional, Nowaczyk, Malgorzata J.M., additional, Pagon, Roberta A., additional, Retterer, Kyle, additional, Rope, Alan F., additional, Sanchez-Lara, Pedro A., additional, Seaver, Laurie H., additional, Shieh, Joseph T., additional, Slavotinek, Anne M., additional, Sobering, Andrew K., additional, Stevens, Cathy A., additional, Stevenson, David A., additional, Tan, Tiong Yang, additional, Tan, Wen-Hann, additional, Tsai, Anne C., additional, Weaver, David D., additional, Williams, Marc S., additional, Zackai, Elaine, additional, and Zarate, Yuri A., additional

Published
2021
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41. Targeted long-read sequencing identifies missing disease-causing variation

Author

Miller, Danny E., primary, Sulovari, Arvis, additional, Wang, Tianyun, additional, Loucks, Hailey, additional, Hoekzema, Kendra, additional, Munson, Katherine M., additional, Lewis, Alexandra P., additional, Fuerte, Edith P. Almanza, additional, Paschal, Catherine R., additional, Walsh, Tom, additional, Thies, Jenny, additional, Bennett, James T., additional, Glass, Ian, additional, Dipple, Katrina M., additional, Patterson, Karynne, additional, Bonkowski, Emily S., additional, Nelson, Zoe, additional, Squire, Audrey, additional, Sikes, Megan, additional, Beckman, Erika, additional, Bennett, Robin L., additional, Earl, Dawn, additional, Lee, Winston, additional, Allikmets, Rando, additional, Perlman, Seth J., additional, Chow, Penny, additional, Hing, Anne V., additional, Wenger, Tara L., additional, Adam, Margaret P., additional, Sun, Angela, additional, Lam, Christina, additional, Chang, Irene, additional, Zou, Xue, additional, Austin, Stephanie L., additional, Huggins, Erin, additional, Safi, Alexias, additional, Iyengar, Apoorva K., additional, Reddy, Timothy E., additional, Majoros, William H., additional, Allen, Andrew S., additional, Crawford, Gregory E., additional, Kishnani, Priya S., additional, King, Mary-Claire, additional, Cherry, Tim, additional, Chong, Jessica X., additional, Bamshad, Michael J., additional, Nickerson, Deborah A., additional, Mefford, Heather C., additional, Doherty, Dan, additional, and Eichler, Evan E., additional

Published
2021
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43. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Author

Baxter, Ruth M., Arboleda, Valerie A., Lee, Hane, Barseghyan, Hayk, Adam, Margaret P., Fechner, Patricia Y., Bargman, Renee, Keegan, Catherine, Travers, Sharon, Schelley, Susan, Hudgins, Louanne, Mathew, Revi P., Stalker, Heather J., Zori, Roberto, Gordon, Ora K., Ramos-Platt, Leigh, Pawlikowska-Haddal, Anna, Eskin, Ascia, Nelson, Stanley F., Délot, Emmanuèle, and Vilain, Eric

Published
2015

46. CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Author

Wenger, Tara L., Harr, Margaret, Ricciardi, Stefania, Bhoj, Elizabeth, Santani, Avni, Adam, Margaret P., Barnett, Sarah S., Ganetzky, Rebecca, McDonald-McGinn, Donna M., Battaglia, Domenica, Bigoni, Stefania, Selicorni, Angelo, Sorge, Giovanni, Monica, Matteo Della, Mari, Francesca, Andreucci, Elena, Romano, Silvia, Cocchi, Guido, Savasta, Salvatore, Malbora, Baris, Marangi, Giuseppe, Garavelli, Livia, Zollino, Marcella, and Zackai, Elaine H.

Published
2014
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50. A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

Author

Shlien, Adam, Baskin, Berivan, Achatz, Maria Isabel W., Stavropoulos, Dimitrios J., Nichols, Kim E., Hudgins, Louanne, Morel, Chantal F., Adam, Margaret P., Zhukova, Nataliya, Rotin, Lianne, Novokmet, Ana, Druker, Harriet, Shago, Mary, Ray, Peter N., Hainaut, Pierre, and Malkin, David

Subjects
Cancer in children -- Genetic aspects, Chromosome deletion -- Analysis, DNA repair -- Analysis, Genetic polymorphisms -- Analysis, Nucleotide sequencing -- Usage, Biological sciences
Abstract

A purpose-built high-resolution array with 93.75% breakpoint accuracy was used to map 4000 patients with diverse diagnoses and identify eight probands harboring microdeletions at TP53 (17p13.1), a DNA copy-number variations (CNVs) which might cause childhood-onset developmental delay (DD) and cancer. The results revealed a possible association of 17p13.1 CNVs with distinct phenotypes depending on the position of the breakpoint with respect to TP53 and called for further studies to determine if other loci in the genome also give rise to phentotypically distinct disorder.

Published
2010

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